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stringlengths 6
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stringclasses 138
values | text
stringclasses 138
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stringclasses 138
values | role
stringclasses 18
values | role-name
stringclasses 18
values | raw-initial-ground-truth
listlengths 0
18
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|---|---|---|---|---|---|---|
test-1401
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"65 - year - old"
] |
test-1402
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1403
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"VDRR",
"diagnosed with VDDR"
] |
test-1404
|
5018076
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction. The patient was first referred to our hospital because of difficulty in walking at the age of 34, when she was diagnosed with VDDR. Later, the diagnosis was genetically confirmed as described by a different research group . The patient had previously undergone T7–T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24, after which her myelopathic symptoms subsided for 7 years. At the age of 34, she underwent a second posterior decompression surgery (T4–T9) for gait disturbance due to thoracic myelopathy after a diagnosis of OPLL and OYL, which resulted in improvement of her symptoms. Since then, the patient has been followed-up on annual basis and remained functionally stable for over 30 years. At the age of 65, she reported weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. She was admitted for further investigation and treatment. On admission, she was 118 cm tall with a marked round back and bowed legs. She was able to walk only short distances supporting herself on a wall. Neurologic examination revealed decreased light touch and pinprick sensation, and motor weakness (3/5 strength) in the distal upper extremities. The grip power was 6 kg in both hands. Tendon reflexes were equivocal with indifferent Babinski sign bilaterally. Plain radiograph showed marked kyphosis of the thoracic spine (T1–T12 angle; 94°) ( Fig. 1 ). Computed tomography demonstrated ankylosis of the whole spine below the C2 vertebra with extensive ossification of the paraspinal ligaments ( Fig. 2 A, B). In contrast, decreased but preserved mobility (9° on flexion and extension) was noted at the craniovertebral junction (CVJ). No overt radiographic instability was found in the atlantoaxial region, with an atlantodental interval of 1 mm. In addition, there was ossification at the rim of the occipital bone, and OPLL at the C1 level. Magnetic resonance imaging (MRI) revealed spinal cord compression at the levels of both the occipital bone and C1 ( Fig. 3 ). The patient underwent posterior decompression, in which the posterior arch of C1 and the ossified rim of the occipital bone were resected. Deformation of the dural sac was observed at locations corresponding to the resected portions of the rim of the occipital bone and C1 posterior arch, indicating that there had been sustained pressure on the sac. Her postoperative course was uneventful. At the 18-month follow-up visit, the patient was free of pain and numbness. Her grip power had improved to 20 kg in the right and 15 kg in the left hand. She had regained the ability to walk with the support of a cane.', 'Patient consent': 'Informed consent was obtained from all individual participants included in this study.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1405
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-1406
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-1407
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Patient-History
|
History
|
[
"A 9 - year - old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour"
] |
test-1408
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Neurology
|
Neuro
|
[
"aggressive behaviour"
] |
test-1409
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"On ultrasound, there were well - defined, heterogeneous, predominantly hypoechoic, round - to - oval masses in both testes",
"The cortisol level was low, and levels of 17 alpha - hydroxyprogesterone, plasma corticotrophin ( ACTH ), and testosterone were high",
"Scrotal ultrasound revealed well - defined, heterogeneous, predominantly hypoechoic, round - to - oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2 cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement",
"decrease in testosterone and 17 alpha - hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months"
] |
test-1410
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1411
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Endocrinology
|
ENDO
|
[
"precocious puberty",
"testicular adrenal rest tumor",
"adrenal crisis",
"precocious puberty, short stature",
"The cortisol level was low, and levels of 17 alpha - hydroxyprogesterone, plasma corticotrophin ( ACTH ), and testosterone were high",
"Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement",
"bilateral testicular masses that had a typical sonographic appearance",
"testicular adrenal rest tumor",
"decrease in testosterone and 17 alpha - hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months"
] |
test-1412
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Genitourinary-System
|
GU
|
[] |
test-1413
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Respiratory-System
|
RESP
|
[] |
test-1414
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Musculoskeletal-System
|
MSK
|
[
"short stature"
] |
test-1415
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-1416
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Dermatology
|
DERM
|
[] |
test-1417
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1418
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1419
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"9 - year - old",
"A 9 - year - old"
] |
test-1420
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age of 1 year"
] |
test-1421
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"diagnosis of CAH and precocious puberty",
"Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses , a diagnosis of testicular adrenal rest tumor was made",
"diagnosed with CAH at the age of 1 year following an adrenal crisis",
"In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance , a diagnosis of testicular adrenal rest tumor was made"
] |
test-1422
|
5894002
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses, a diagnosis of testicular adrenal rest tumor was made; biopsy was deferred and hormonal treatment was modified. A 9-year-old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour. The cortisol level was low, and levels of 17 alpha-hydroxyprogesterone, plasma corticotrophin (ACTH), and testosterone were high. Scrotal ultrasound revealed well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses with posterior acoustic shadowing in both testes, in the medial aspects near the mediastinum testis. The right testicular mass measured 1.3×1.1 cm, and the left testicular mass measured 1.5×1.2cm ( Figures 1, 2 ). On colour Doppler, the masses had minimal internal vascularity ( Figure 3 ). The rest of the testes showed normal flow. The epididymis and cord structures were normal. There was no evidence of hydrocoele on both sides. Testicular tumor markers were negative. Abdominal ultrasound did not reveal any mass lesion in the suprarenal region, ruling out adrenal gland enlargement ( Figure 4 ). In a patient with CAH and bilateral testicular masses that had a typical sonographic appearance, a diagnosis of testicular adrenal rest tumor was made, and biopsy was deferred. Hormonal treatment was intensified, and the testicular masses are followed up. The patient improved clinically, which was associated with a decrease in testosterone and 17 alpha-hydroxyprogesterone levels; however, the testicular masses did not significantly change in size on follow up ultrasound performed after 3 and 6 months. Currently, the patient is advised to undergo follow-up ultrasound examinations every 3 months.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1423
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Complete blood count and liver function tests were also normal",
"the patient ’s SpO 2 remained between 97 % and 100",
"heart rate varied from 82 to 96 beat / min",
"Vital signs were stable during the surgery"
] |
test-1424
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-1425
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Patient-History
|
History
|
[
"A 19 - year - old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents ( cousins ). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally",
"We report a 19 - year - old girl with palmoplantar hyperkeratosis who presented total loss of her teeth"
] |
test-1426
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Neurology
|
Neuro
|
[] |
test-1427
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X - ray, and skull X - ray were normal",
"Complete blood count and liver function tests were also normal"
] |
test-1428
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1429
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Endocrinology
|
ENDO
|
[] |
test-1430
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Genitourinary-System
|
GU
|
[] |
test-1431
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Respiratory-System
|
RESP
|
[] |
test-1432
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1433
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"complete loss of teeth by the age of 14 which",
"permanent and deciduous teeth were lost after erupting normally",
"complete edentulous ridges with normal overlying mucosa",
"total loss of her teeth"
] |
test-1434
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Dermatology
|
DERM
|
[
"palmoplantar hyperkeratosis from the age of 4 years",
"diffuse palmoplantar keratoderma",
"palmoplantar hyperkeratosis"
] |
test-1435
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1436
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1437
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"19 - year - old",
"19 - year - old"
] |
test-1438
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age of 4 years"
] |
test-1439
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"characteristic criteria for PLS"
] |
test-1440
|
5554421
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also suffered from PLS but two younger siblings were normal. Previous medical history showed that her permanent and deciduous teeth were lost after erupting normally. On physical examination, there was diffuse palmoplantar keratoderma ( Figure 1 ). Intraoral examination revealed complete edentulous ridges with normal overlying mucosa. In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X-ray, and skull X-ray were normal. She was subsequently provided with artificial dentures and she was a candidate for mandibular bone graft from her skull and dental implants of lower jaw. Complete blood count and liver function tests were also normal. The patient was informed of the indication, and risks and benefits of fiberoptic nasal intubation under sedation. Preoperatively, after careful intravenous catheter insertion, she was premedicated with intravenous midazolam 1 mg and glycopyrolate 0.2 mg. Topical nasal vasoconstriction was achieved with oxymetazolin nasal drop and xylocaine spray 10% in both nostrils. Nasal oxygenation through the nasopharyngeal airway with 100% oxygen was started 3 minutes before the nasal intubation. The patient received a loading dose of dexmedetomidine (Precedex) 1 µg/kg infused over 10 minutes, followed by maintenance dose of Precedex (0.4 µg/kg/h). Gently, she was intubated by fiberoptic. During the awake nasal intubation, the patient’s SpO 2 remained between 97% and 100%. The heart rate varied from 82 to 96 beat/min. Fentanyl (1.5 µg/kg), propofol (2 mg/kg), and cisatracurium (0.15 mg/kg) were used for induction, and general anesthesia was maintained with Sevoflurane, 50% oxygen and 50% nitro oxide. Vital signs were stable during the surgery. Fentanyl (50 µg) and cisatracurium (2 mg) were repeated every 45 minutes. At the end of the surgery, the patient was extubated when she was fully awake and shifted to post anesthesia care unit (PACU) and had a recovery without any complication. Informed consent was taken from the patient regarding the publication of information in the journal. The patient reviewed the case and gave written permission for the authors to publish the report.', 'Case Presentation': 'We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1441
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"he weighed 38 kg and his height was 148 cm",
"pulse rate was 47 / minute"
] |
test-1442
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Gastrointestinal-System
|
GI
|
[
"recurrent episodes of vomiting",
"liver was not enlarged"
] |
test-1443
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Patient-History
|
History
|
[
"A 14 - year - old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light",
"His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities"
] |
test-1444
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Neurology
|
Neuro
|
[
"no episodes of syncope, pre - syncope or night terrors",
"His developmental history was normal",
"Clinical evaluation of the neurological system was normal"
] |
test-1445
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non - diagnostic",
"His chest x - ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits",
"Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature ( a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence"
] |
test-1446
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Cardiovascular-System
|
CVS
|
[
"low heart rate",
"not associated with breathlessness or chest pain. There were no episodes of syncope, pre - syncope",
"peripheral perfusion was good and all peripheral pulses were felt equally",
"regular pulses and a normal volume",
"no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space",
"His chest x - ray showed a normal cardiac silhouette",
"Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits",
"His electrocardiogram revealed complete atrio - ventricular disassociation with an atrial rate of 100 / min and a broad complex ventricular escape rhythm with a rate of 43 / minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds",
"Electrocardiogram showing evidence of complete heart block with an atrial rate of 100 / minute and a broad complex escape rhythm with a ventricular rate of 43 / minute",
"improvement in his effort levels as well as appetite",
"his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive"
] |
test-1447
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Endocrinology
|
ENDO
|
[] |
test-1448
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Genitourinary-System
|
GU
|
[] |
test-1449
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Respiratory-System
|
RESP
|
[
"not associated with breathlessness or chest pain",
"His chest was clear on auscultation",
"clear lung fields"
] |
test-1450
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1451
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina",
"Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina"
] |
test-1452
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Dermatology
|
DERM
|
[
"no dysmorphic features or congenital anomalies"
] |
test-1453
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Pregnancy
|
Pregnancy
|
[] |
test-1454
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1455
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"14 - year - old"
] |
test-1456
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1457
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Kearns Sayre Syndrome"
] |
test-1458
|
5478910
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina ( Fig. 1 ). He was also noticed to have a low heart rate. Hence KSS was suspected. His parents reported that he was not a sporty person and became fatigued earlier than his peers during physical activities. However this was not associated with breathlessness or chest pain. There were no episodes of syncope, pre-syncope or night terrors. His developmental history was normal. He had previously been evaluated at 3 years of age for recurrent episodes of vomiting. His clinical examination at that age was reported to be normal. Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non-diagnostic. Hence no metabolic diagnosis was made and he was kept on follow up. Fig. 1 Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina. Fig. 1 On examination he weighed 38 kg and his height was 148 cm. There were no dysmorphic features or congenital anomalies. His peripheral perfusion was good and all peripheral pulses were felt equally. His pulse rate was 47/minute with regular pulses and a normal volume. There was no clinical evidence of cardiomegaly. His first heart sound was normal, second heart sound was normally split and a grade 2/6 ejection systolic murmur was heard in the left 2nd intercostal space. His chest was clear on auscultation and his liver was not enlarged. Clinical evaluation of the neurological system was normal. His chest x-ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal limits. His electrocardiogram revealed complete atrio-ventricular disassociation with an atrial rate of 100/min and a broad complex ventricular escape rhythm with a rate of 43/minute ( Fig. 2 ). The QRS duration was 160 milliseconds. The QT interval was 520 milliseconds and the QTc was calculated to be 474 milliseconds. Genetic testing revealed a large mitochondrial DNA deletion that on mapping proved to be a novel mutation not previously reported in literature (a 3898bp deletion m.6162_10059del that does not occur at a repeat sequence). Fig. 2 Electrocardiogram showing evidence of complete heart block with an atrial rate of 100/minute and a broad complex escape rhythm with a ventricular rate of 43/minute. Fig. 2 As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra-Hisian rhythm he was implanted with a dual chamber transvenous pacing system (St Jude's Accent MRI system with 52 cm (atrial) and 58 cm (ventricular) St Jude Tendril MRI leads). The pacemaker was set in DDD mode with a lower rate of 50/min, a maximum sensor rate of 110/minute and an upper tracking rate of 130/minute. The procedure was uneventful. His device was interrogated regularly with no significant concerns. On follow up, his parents reported an improvement in his effort levels as well as appetite. Two years after his pacemaker implantation and two weeks after his last pacemaker clinic visit, his parents returned home at 12.30 PM to find him sitting on the sofa with his earphones over his ears and his computer by his side apparently asleep. He had contacted his mother approximately 45 minutes earlier. They found him to be unresponsive and started cardio-pulmonary resuscitation. An ambulance arrived twenty minutes later and continued resuscitation en route to the nearest hospital where he could not be revived and declared dead on arrival. An autopsy was not performed in honor of his parents' wishes."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra - Hisian rhythm he was implanted with a dual chamber transvenous pacing system ( St Jude 's Accent MRI system with 52 cm ( atrial ) and 58 cm ( ventricular ) St Jude Tendril MRI leads ) . The pacemaker was set in DDD mode with a lower rate of 50 / min , a maximum sensor rate of 110 / minute and an upper tracking rate of 130 / minute ."
] |
test-1459
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"pulmonary embolism"
] |
test-1460
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-1461
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Patient-History
|
History
|
[
"A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS : obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections ( UTIs"
] |
test-1462
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Neurology
|
Neuro
|
[] |
test-1463
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Supine KUB ( A ) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre - operation non - contrast urinary tract CT ( B + C ) showing multiple stones in the urinary bladder and prostate",
"Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen ( PSA ). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative",
"Post operation non - contrast urinary tract CT ( A + B ) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR ( C ) showing fluid filled diverticulum in the left lateral aspect of the prostate ( arrow ), axial T2 ( D ) showing the prostatic diverticulum containing tiny hypointense stone",
"Axial non - contrast urinary tract CT ( A + B ) show near completely removal of all stones ( residual tiny stone in the prostate",
"chemical calculus analysis showed black stones with a composition of 20 % uric acids and 80 % calcium oxalate"
] |
test-1464
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Cardiovascular-System
|
CVS
|
[
"hypertension",
"pulmonary embolism"
] |
test-1465
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Endocrinology
|
ENDO
|
[] |
test-1466
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Genitourinary-System
|
GU
|
[
"severe LUTS : obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention",
"blackish discoloration of his urine and history of recurrent urinary tract infections ( UTIs",
"urethral stone was felt in the shaft of the penis during palpation, bladder was not full",
"prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum",
"Supine KUB ( A ) showing numerous radiopaque stones at the projection of urinary bladder and prostate",
"pre - operation non - contrast urinary tract CT ( B + C ) showing multiple stones in the urinary bladder and prostate",
"presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative",
"Post operation non - contrast urinary tract CT ( A + B ) showing only few residual stones, the largest on the right side of the prostate",
"pelvic MRI coronal STIR ( C ) showing fluid filled diverticulum in the left lateral aspect of the prostate ( arrow ), axial T2 ( D ) showing the prostatic diverticulum containing tiny hypointense stone",
"complicated by clot retention",
"urethral and left paraprostatic diverticulum with multiple black stones",
"residual tiny stone in the prostate",
"weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20 % uric acids and 80 % calcium oxalate",
"was passing urine with good stream",
"without any bothersome urinary symptoms"
] |
test-1467
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Respiratory-System
|
RESP
|
[
"asthma",
"pulmonary embolism"
] |
test-1468
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Musculoskeletal-System
|
MSK
|
[
"presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB ), short stature",
"advanced changes of alkaptonuria seen in spine"
] |
test-1469
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"black discoloration of the nose and ear cartilages"
] |
test-1470
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Dermatology
|
DERM
|
[] |
test-1471
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1472
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1473
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[] |
test-1474
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1475
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"AKU",
"alkaptonuria"
] |
test-1476
|
5544469
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urination and acute urinary retention that was relieved by suprapubic catheterization and cystolitholapaxy for his urinary bladder stones. He also reports blackish discoloration of his urine and history of recurrent urinary tract infections (UTIs). On examination, a urethral stone was felt in the shaft of the penis during palpation, bladder was not full. By digital rectal examination, the prostate was hard with indentation mostly representing palpable stones in the prostatic urethra and para prostatic diverticulum. Other extra genitourinary manifestations due to AKU disease were apparent; including the presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB), short stature, and black discoloration of the nose and ear cartilages. Fig. 1 Supine KUB (A) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre-operation non-contrast urinary tract CT (B + C) showing multiple stones in the urinary bladder and prostate. Fig. 1 Laboratory investigations revealed a normal complete blood count, kidney function tests, serum parathyroid hormone, uric acid, calcium, and prostate specific antigen (PSA). The only positive finding was the presence of red blood cells and white blood cells in his urine analysis; however, his urine culture results came back negative. A Kidney, Ureter and Bladder plain film (KUB) and unenhanced urinary tract computed tomography (CT) were done with results as shown in ( Fig. 1 A) and ( Fig. 1 B + C) respectively. Two operative sessions were done to completely clear his stones in the urethra, paraprostatic diverticulum and bladder. During the first operation, cystoscopy revealed multiple urethral, urinary bladder, and left para prostatic diverticulum black stones. His urethral stones were pushed back up to urinary bladder and cystolitholapaxy were used to eliminate urinary bladder stones. A 3-way urethral catheter was inserted into urinary bladder. Another unenhanced urinary tract CT ( Fig. 2 A + B) and pelvic magnetic resonance imaging (MRI) ( Fig. 2 C + D) were taken postoperatively. Fig. 2 Post operation non-contrast urinary tract CT (A + B) showing only few residual stones, the largest on the right side of the prostate and pelvic MRI coronal STIR (C) showing fluid filled diverticulum in the left lateral aspect of the prostate (arrow), axial T2 (D) showing the prostatic diverticulum containing tiny hypointense stone (arrow). Fig. 2 Few days after his first operation, the patient developed pulmonary embolism and started on an anticoagulant (enoxaparin), then the patient course was complicated by clot retention, so suprapubic catheter was inserted and patient was kept on continuous irrigation. Repeat cystoscopy revealed urethral and left paraprostatic diverticulum with multiple black stones that were then fragmented using a pneumatic lithotripter, and evacuated by inserting a 3-ways Foley’s catheter. An unenhanced urinary tract CT ( Fig. 3 ) was taken for comparison with the his baseline CT prior to operation ( Fig. 1 (B + C)). Fig. 3 Axial non-contrast urinary tract CT (A + B) show near completely removal of all stones (residual tiny stone in the prostate, arrow). Fig. 3 The weight of the stones was 78 g, and chemical calculus analysis showed black stones with a composition of 20% uric acids and 80% calcium oxalate. After few days from the last cystoscopy procedure, Foley’s catheter was removed followed by suprapubic catheter removal, after that, patient was passing urine with good stream and discharged home. The patient has been visiting outpatient clinic with a regular follow up visits without any bothersome urinary symptoms.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1477
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"The blood pressure at clinic was 80/50 mm Hg",
"104.5 cm tall and weighs 23.3 kg"
] |
test-1478
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Gastrointestinal-System
|
GI
|
[
"vomiting",
"vomiting"
] |
test-1479
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Patient-History
|
History
|
[
"An 11 - month - old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full - term by Cesarean section and was the second child of the nonconsanguineous parents. The patient 's older sibling was phenotypically female, but died in infancy without a clear diagnosis",
"Both parents were found to be heterozygous for the variant",
"patient 's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes ( such as mild amenorrhea in women ) were recorded, and there were no abnormalities in physical and laboratory examinations",
"A case was reported that an 11 - month - old Chinese girl who presented with a sex development disorder and hyponatremia"
] |
test-1480
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Neurology
|
Neuro
|
[] |
test-1481
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"hyponatremia and an elevated adrenocorticotropic hormone ( ACTH ) level were detected by tests.",
"the baby had a mildly elevated cholesterol level of 5.72 mmol / L ( normal : 2.85–5.70 mmol / L ), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol / L ( normal : 135–145 mmol / L ) with potassium concentration of 6.61 mmol / L ( normal : 3.5–5.5 mmol / L ). ACTH was > 1250 pg / mL ( 0–46 pg / mL ) with a morning cortisol of 1.23 μg / dL ( normal : 4–22 μg / dL ). Baseline sex hormone tests revealed luteinizing hormone < 0.10 U / L, follicle stimulating hormone 1.78 U / L, testosterone 2.50 ng / dL, progesterone 0.44 ng / dL, estradiol 22.99 pg / mL, and dehydroepiandrosterone ( DHEA ) sulfate < 0.1 μg / dL. Adrenal computed tomography ( CT ) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular - like tissues were detected in the bilateral inguinal regions ( left : 0.6 × 0.4 cm; right : 0.7 × 0.4 cm ) by ultrasonography. Plasma renin activity ( PRA ) was 0.11 ng / mL per h ( normal : 0.93–6.56 ng / mL per h ) with a normal aldosterone level of 8.84 ng / dL ( normal : 6.5–29.6 ng / dL ).",
"a homozygous variant c.707_708delins CTT ( p. Lys236Thrfs∗47 ) was found on exon 6 of the STAR gene.",
"Both parents were found to be heterozygous for the variant ( c.707_708delins CTT, p. Lys236Thrfs∗47 ) at the same locus of the STAR gene without phenotypic consequences.",
"The patient 's paternal grandfather and maternal grandmother both carried the same mutant allele",
"hyponatremia",
"The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular - like tissue in the bilateral inguinal regions were detected with abdominal ultrasound."
] |
test-1482
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Cardiovascular-System
|
CVS
|
[
"Lacking hypertension"
] |
test-1483
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Endocrinology
|
ENDO
|
[] |
test-1484
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Genitourinary-System
|
GU
|
[
"female external genitalia",
"plasma sodium level was 131.7 mmol / L ( normal : 135–145 mmol / L ) with potassium concentration of 6.61 mmol / L ( normal : 3.5–5.5 mmol / L )",
"Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular - like tissues were detected in the bilateral inguinal regions ( left : 0.6 × 0.4 cm; right : 0.7 × 0.4 cm ) by ultrasonography",
"ambiguous genitalia",
"sex development disorder",
"hyponatremia",
"hyponatremia",
"female vulva despite a 46, XY karyotype",
"testicular - like tissue in the bilateral inguinal regions"
] |
test-1485
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Respiratory-System
|
RESP
|
[] |
test-1486
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1487
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-1488
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Dermatology
|
DERM
|
[
"skin hyperpigmentation",
"skin hyperpigmentation"
] |
test-1489
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Pregnancy
|
Pregnancy
|
[
"was born at full - term by Cesarean section"
] |
test-1490
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1491
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"11 - month - old",
"11 - month - old"
] |
test-1492
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1493
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"She was suspected of having LCAH , and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT ( p. Lys236Thrfs∗47 ) on exon 6 of the STAR gene ."
] |
test-1494
|
5457889
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling was phenotypically female, but died in infancy without a clear diagnosis. Although the karyotype was 46, XY, the patient was raised as female gender since she had female external genitalia. In addition, hyponatremia and an elevated adrenocorticotropic hormone (ACTH) level were detected by tests. The blood pressure at clinic was 80/50 mm Hg. Laboratory analysis revealed that the baby had a mildly elevated cholesterol level of 5.72 mmol/L (normal: 2.85–5.70 mmol/L), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol/L (normal: 135–145 mmol/L) with potassium concentration of 6.61 mmol/L (normal: 3.5–5.5 mmol/L). ACTH was >1250 pg/mL (0–46 pg/mL) with a morning cortisol of 1.23 μg/dL (normal: 4–22 μg/dL). Baseline sex hormone tests revealed luteinizing hormone <0.10 U/L, follicle stimulating hormone 1.78 U/L, testosterone 2.50 ng/dL, progesterone 0.44 ng/dL, estradiol 22.99 pg/mL, and dehydroepiandrosterone (DHEA) sulfate <0.1 μg/dL. Adrenal computed tomography (CT) scan revealed enlarged adrenal glands. Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular-like tissues were detected in the bilateral inguinal regions (left: 0.6 × 0.4 cm; right: 0.7 × 0.4 cm) by ultrasonography. Plasma renin activity (PRA) was 0.11 ng/mL per h (normal: 0.93–6.56 ng/mL per h) with a normal aldosterone level of 8.84 ng/dL (normal: 6.5–29.6 ng/dL). Given ambiguous genitalia, karyotype of 46, XY and decreased DHEA and testosterone levels, the diagnosis of 21-hydroxylase deficiency and 11 beta hydroxylase deficiency were excluded. Lacking hypertension and hypopotassemia, the clinical presentation of salt loss and decreased progesterone also did not support the diagnosis of 17OHD. Without an elevated progesterone level, cytochrome PORD was less considered. The differential diagnosis included 3β-HSD deficiency and LCAH. After the informed consent form was signed by the families and approved by the Institutional Review Board of Peking Union Medical College Hospital, further genetic analysis with gene sequencing indicated it is not defective HSD3B2 (related to 3β-HSD deficiency). However, a homozygous variant c.707_708delins CTT (p.Lys236Thrfs∗47) was found on exon 6 of the STAR gene. A truncated disease-causing protein was predicted with MutationTaster software. The variant mutation was found to cause a frameshift at codon 236 with a stop at codon 282. Both parents were found to be heterozygous for the variant (c.707_708delins CTT, p.Lys236Thrfs∗47) at the same locus of the STAR gene without phenotypic consequences. To further evaluate the family pedigree for mutation carriers, the patient's paternal and maternal grandparents also took part in the gene sequencing. The patient's paternal grandfather and maternal grandmother both carried the same mutant allele; her paternal grandmother and maternal grandfather were negative for the mutant allele. All the family members denied consanguinity and no subclinical phenotypes (such as mild amenorrhea in women) were recorded, and there were no abnormalities in physical and laboratory examinations. The results of the patient, her parents, and paternal grandfather and maternal grandmother are shown in Fig. 1 . The genogram of LCAH in this family is presented in Fig. 2 . The patient was prescribed hydrocortisone 10 to 12 mg/m 2 and 9α-fludrocortisone 100 μg/d. Gradually, her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium level is 138 mmol/L with a normal potassium concentration of 4.8 mmol/L. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range.", 'Patient concerns:': 'A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs∗47) on exon 6 of the STAR gene.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"The patient was prescribed hydrocortisone 10 to 12 mg / m 2 and 9α - fludrocortisone 100 μg / d."
] |
test-1495
|
5633257
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"normal vital signs"
] |
test-1496
|
5633257
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
Gastrointestinal-System
|
GI
|
[
"neuro - visceral and psychiatric manifestations",
"right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion",
"mild pain distress",
"acute abdominal pain",
"abdominal pain",
"four recurrent milder attacks in the form of abdominal and back pain"
] |
test-1497
|
5633257
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
Patient-History
|
History
|
[
"We present a 24 year - old woman who developed acute intermittent porphyria five days after right hemi - colectomy",
"A 24 year - old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission",
"the family history showed that two of her cousins ( from mother side ) had AIP"
] |
test-1498
|
5633257
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
Neurology
|
Neuro
|
[
"neuro - visceral and psychiatric manifestations",
"sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light",
"brain CT scan and magnetic resonance imaging ( MRI ), and cerebrospinal fluid analysis. These tests and septic work - up were normal",
"developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes",
"neurological and psychiatric symptoms",
"four recurrent milder attacks in the form of abdominal and back pain and confusion"
] |
test-1499
|
5633257
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"positive urine test for porphobilinogen",
"presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene ( c.760delC p Leu254 )",
"Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase ( AST, SGOT ) range was 18–33 U / L ( normal range : 15–37 U / L ). Alanine aminotransferase ( ALT, SGPT ) range was 25–51 U / L ( normal range : 14–63 U / L ). On admission, level of serum sodium ( Na ) was normal : 138 mEq / L ( normal range 135–145 mEq / L ) and remained normal ( range : 135–139 mEq / L ) until the 5th postoperative day",
"Plain abdominal X - ray and abdominal computed tomography ( CT ) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable",
"The histology revealed normal colon",
"Blood work up revealed severe hyponatremia; serum Na : 107 mEq / l with normal renal and liver function tests",
"brain CT scan and magnetic resonance imaging ( MRI ), and cerebrospinal fluid analysis. These tests and septic work - up were normal",
"presence of high PBG in the urine",
"she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene ( c.760delC p Leu254"
] |
test-1500
|
5633257
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The diagnosis was based on a positive urine test for porphobilinogen and confirmed by the presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). This work has been reported in line with the SCARE criteria . A 24 year-old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion. She had no constitutional symptoms of chronic illness. She was not on any medications and her social history was unremarkable. Her menstrual cycle was regular and she was menstruating one day after admission. Physical examination revealed a thin patient in mild pain distress with normal vital signs. Her abdomen was soft and lax with normal bowel sounds. Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspartate aminotransferase (AST, SGOT) range was 18–33 U/L (normal range: 15–37 U/L). Alanine aminotransferase (ALT, SGPT) range was 25–51 U/L (normal range: 14–63 U/L). On admission, level of serum sodium (Na) was normal: 138 mEq/L (normal range 135–145 mEq/L) and remained normal (range: 135–139 mEq/L) until the 5th postoperative day (see below). Plain abdominal X-ray and abdominal computed tomography (CT) showed a distended cecum located in the pelvis with fecal impaction; the rest of the viscera were unremarkable. These findings were consistent with mobile cecum syndrome. The patient was scheduled for laparoscopy and possible laparotomy. The only abnormality during laparoscopy was that the cecum and ascending colon were not attached to posterior abdominal wall. The procedure was converted to laparotomy. Right hemi-colectomy was performed. She was kept on epidural analgesia, intravenous (IV) fluids and nil by mouth for four days and had a smooth post-operative course. After surgery, she received intravenous (IV) 5% dextrose/0.9% NaC) three liters/day (her weight was 48 kg). In addition, her pain was controlled by epidural analgesia of lidocaine and fentanyl. The histology revealed normal colon. On the 5th postoperative day, oral intake was resumed and epidural analgesia was discontinued. Eight hours later, she had a sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light. The patient was immediately intubated, mechanically ventilated, resuscitated, and admitted to the intensive care unit (ICU). Blood work up revealed severe hyponatremia; serum Na: 107 mEq/l with normal renal and liver function tests. Our differential diagnoses for the severe hyponatremia included drug intoxicity, encephalitis, and salt losing nephropathy. Consultations to neurology and psychiatry were made and they advised brain CT scan and magnetic resonance imaging (MRI), and cerebrospinal fluid analysis. These tests and septic work-up were normal. She was extubated two days later. At this stage, she started to complain of acute abdominal pain and developed altered mental status, personality changes, visual and auditory hallucinations with euphoric and aggression episodes despite correction of serum Na. The presence of abdominal pain, neurological and psychiatric symptoms and unexplained severe hyponatremia raised the suspicion of AIP. The diagnosis of AIP was based on the presence of high PBG in the urine (test was done at another center). At no time, her urine was dark. In retrospect, the family history showed that two of her cousins (from mother side) had AIP. The patient condition improved markedly after proper pain control and high carbohydrate intake. We referred her to a higher center where she was found to have a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene (c.760delC p Leu254). There, she received premenstrual regime of IV hematin (heme arginate) 4 mg/Kg body weight/day for three days. She had four recurrent milder attacks in the form of abdominal and back pain and confusion and was treated with similar regime of hematin. Thereafter, she was kept on once monthly prophylactic IV hematin 4 mg/Kg body weight/day for three days. Now, one and a half years after discharge from our service, she is doing fine and on no hematin treatment.'}
|
Cardiovascular-System
|
CVS
|
[] |
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