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stringlengths 6
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stringclasses 138
values | text
stringclasses 138
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stringclasses 138
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stringclasses 18
values | role-name
stringclasses 18
values | raw-initial-ground-truth
listlengths 0
18
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|---|---|---|---|---|---|---|
test-1101
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Patient-History
|
History
|
[
"A 6 - year - old male child, first born of third - degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far ( last episode at the age of 4 years )."
] |
test-1102
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Neurology
|
Neuro
|
[
"global developmental delay and stiffness of all limbs",
"recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far ( last episode at the age of 4 years ).",
"global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power ( 3/5 in lower limbs and 4/5 in upper limbs ), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs",
"mental retardation and spastic diplegia"
] |
test-1103
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[] |
test-1104
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1105
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Endocrinology
|
ENDO
|
[] |
test-1106
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Genitourinary-System
|
GU
|
[] |
test-1107
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Respiratory-System
|
RESP
|
[] |
test-1108
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Musculoskeletal-System
|
MSK
|
[
"Kyphoscoliosis of trunk was present"
] |
test-1109
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region"
] |
test-1110
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Dermatology
|
DERM
|
[
"scaly lesions on skin over both upper and lower limbs since day 5 of life,",
"diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin",
"congenital ichthyosis"
] |
test-1111
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Pregnancy
|
Pregnancy
|
[
"delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice"
] |
test-1112
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1113
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"6 - year - old"
] |
test-1114
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"day 5 of life"
] |
test-1115
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
test-1116
|
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1117
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"red colored urine for the past 1 year.",
"hemoglobin, 9.8 g / dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase ( 423U / l ) and mild increase in serum bilirubin ( 1.8 mg / dL )",
"splenomegaly ( 17 mm )"
] |
test-1118
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Gastrointestinal-System
|
GI
|
[
"no history of acute abdominal pain"
] |
test-1119
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Patient-History
|
History
|
[
"A 27 - year - old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo - exposed areas of the body for the past 12 years"
] |
test-1120
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Neurology
|
Neuro
|
[] |
test-1121
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Hematological tests reported hemoglobin, 9.8 g / dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase ( 423U / l ) and mild increase in serum bilirubin ( 1.8 mg / dL )",
"Ultrasonography of the whole abdomen showed splenomegaly ( 17 mm )"
] |
test-1122
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Cardiovascular-System
|
CVS
|
[] |
test-1123
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Endocrinology
|
ENDO
|
[] |
test-1124
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Genitourinary-System
|
GU
|
[
"red colored urine for the past 1 year"
] |
test-1125
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Respiratory-System
|
RESP
|
[] |
test-1126
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Musculoskeletal-System
|
MSK
|
[
"severe pain in the fingers of both hands 1 - year prior presentation",
"resorption of distal phalanges of all the fingers in both hands"
] |
test-1127
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"foreign body sensation in both eyes for the previous 2 years",
"The patient 's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of – 0.5 × 115 ° in the right eye and – 1.25 × 80 ° in the left eye. Air - puff tonometry measured intraocular pressure of 14 mm - Hg bilaterally. The fundus examination was unremarkable. Slit - lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer 's test 1 was 8 mm in the right eye and 10 mm in the left eye"
] |
test-1128
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Dermatology
|
DERM
|
[
"history of blistering skin lesions on the photo - exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper - pigmentation and scarring of the photo - exposed areas of the body",
"pinched up nose, scarring over the lips, nose, hands",
"onycholysis of the smallest digits. Onycholysis was present on all the toes"
] |
test-1129
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Pregnancy
|
Pregnancy
|
[] |
test-1130
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1131
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"27 - year - old"
] |
test-1132
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1133
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
test-1134
|
4759899
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.', 'CASE REPORT': "A 27-year-old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo-exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper-pigmentation and scarring of the photo-exposed areas of the body. He developed severe pain in the fingers of both hands 1-year prior presentation. He complained of the passage of red colored urine for the past 1 year. There was no history of acute abdominal pain and no family history of the similar phenomenon was found. Striking features on physical examination were a pinched up nose, scarring over the lips, nose, hands, and resorption of distal phalanges of all the fingers in both hands except onycholysis of the smallest digits. Onycholysis was present on all the toes. The remainder of the systemic examination was noncontributory. The patient's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of –0.5 × 115° in the right eye and –1.25 × 80° in the left eye. Air-puff tonometry measured intraocular pressure of 14 mm-Hg bilaterally. The fundus examination was unremarkable. Slit-lamp examination indicated scleral necrosis in the interpalpebral area of both eyes that was more pronounced temporally compared to nasally. Temporally, it was 4 mm × 3 mm in the left eye and 3 mm × 3 mm in the right eye. Nasally, minimal scleral necrosis was seen with overlying fibrosed conjunctiva in both eyes. Mild conjunctival scarring was present in the temporal necrosed part of the right eye. In the left eye, the temporal necrosed part was devoid of conjunctival tissue, a frill of conjunctival tissue was present at the margin of the necrosed area. Conjunctiva and sclera in the covered area appeared to be normal. Infiltrations were seen in the peripheral cornea of both eyes near the limbus with temporal and nasal involvement. Fluorescein staining indicated normal epithelium. Schirmer's test 1 was 8 mm in the right eye and 10 mm in the left eye. These symptoms were suggestive of porphyria. Laboratory testing based on the definite pattern of accumulation and hyperexcretion of porphyrins and porphyrin precursor is the most effective measure for diagnosis and typing of porphyrias. Exact porphyrin isomer identification requires sophisticated equipment such as high-performance liquid chromatography which is unavailable at our center and in most hospitals in the developing countries. Hematological tests reported hemoglobin, 9.8 g/dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase (423U/l) and mild increase in serum bilirubin (1.8 mg/dL). Ultrasonography of the whole abdomen showed splenomegaly (17 mm). These features are suggestive of hemolytic anemia. The treatment involved complete avoidance of sunlight and use of dark goggles. The patient was prescribed topical cyclosporine 0.5% eye drop 3 times a day and ocular lubricant was prescribed for both eyes. We planned a full-thickness scleral patch graft with amniotic membrane transplant in the necrosed region. The patient was advised to return for periodic follow-up to our cornea clinic."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"The treatment involved complete avoidance of sunlight and use of dark goggles ."
] |
test-1135
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-1136
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Gastrointestinal-System
|
GI
|
[] |
test-1137
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Patient-History
|
History
|
[
"clitoral resection and vaginoplasty"
] |
test-1138
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Neurology
|
Neuro
|
[] |
test-1139
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"high testosterone level, raised 17 - hydroxyprogeterone level",
"normal karyotype ( 46, XX )",
"The first trimester screening conducted at the first visit of 12 + 3 week of gestation was normal and quad test conducted at 16 + 3 week of gestation was also normal.",
"blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24 + 6 week of gestation",
"Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age",
"mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23 + 4 week of gestation"
] |
test-1140
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Cardiovascular-System
|
CVS
|
[] |
test-1141
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Endocrinology
|
ENDO
|
[
"enlarged clitoris",
"gestational diabetes mellitus",
"gestational diabetes mellitus"
] |
test-1142
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Genitourinary-System
|
GU
|
[
"enlarged clitoris"
] |
test-1143
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Respiratory-System
|
RESP
|
[] |
test-1144
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1145
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-1146
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Dermatology
|
DERM
|
[] |
test-1147
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Pregnancy
|
Pregnancy
|
[
"got pregnant spontaneously without any trial of assisted reproductive technology",
"The first trimester screening conducted at the first visit of 12 + 3 week of gestation was normal and quad test conducted at 16 + 3 week of gestation was also normal",
"She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24 + 6 week of gestation",
"Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age",
"Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38 + 4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype ( 46, XX ) in the result of chromosomal study",
"After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23 + 4 week of gestation",
"The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign",
"She delivered 3,250 g female baby at 38 + 2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance"
] |
test-1148
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1149
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"27 - year - old"
] |
test-1150
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Age-of-Onset
|
Age (of onset)
|
[
"eleven years old"
] |
test-1151
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"a diagnosed case of 21 - hydroxylase deficient simple virilizing form of classic CAH"
] |
test-1152
|
4742476
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxyprogeterone level, enlarged clitoris and normal karyotype (46, XX). At the age of 12, she underwent clitoral resection and vaginoplasty at urology department of our hospital. She took dexamethasone (minimum dose 0.5 mg/day to maximum dose 1.0 mg/day) after operation. Four months later, her breasts expanded and in six months' time, menstruation began. The treatment sustained without any other complication. The treatment had continued and urology department referred this case to endocrinology department when she was 27 years old. Medication was changed to prednisolone and the endocrinology department had prescribed it (minimum dose 10 mg/day to maximum dose 20 mg/day) before pregnancy. She married at 25 years old and had a spontaneous abortion at 26 years old. After the abortion, she got pregnant spontaneously without any trial of assisted reproductive technology. At 12+3 week of gestation, she first visited our department. The first trimester screening conducted at the first visit of 12+3 week of gestation was normal and quad test conducted at 16+3 week of gestation was also normal. She was diagnosed with gestational diabetes mellitus as blood sugar was mildly increased than normal range in the 100 g oral glucose tolerance test conducted at 24+6 week of gestation. Lifestyle modification was recommended to the patient and blood sugar was well-controlled without any medication. Ultrasonography was performed at two to four weeks. The development of fetus was appropriate to the gestational age without any sign of intrauterine growth retardation or large for gestational age. During pregnancy, she continued to take prednisolone (minimum dose 7.5 mg/day to maximum dose 20 mg/day) on demand at endocrinology department. Cesarean section was preferred other than vaginal delivery, as she had cephalopelvic disproportion on examination and history of vaginoplasty. She delivered female weighs 2,990 g by elective cesarean section at 38+4 week of gestation. The baby exhibited normal 7 Apgar score and did not require oxygen or respiratory assistance. The external genitalia was normal and there was a sign of normal karyotype (46, XX) in the result of chromosomal study. After the delivery, the patient had took prednisolone (15 mg/day) consistently for the CAH. After one time of spontaneous abortion, 3 years later, at the age of 30, she became pregnant of the second baby spontaneously. She was diagnosed with gestational diabetes mellitus due to the mildly increased level of blood sugar at the 100 g oral glucose tolerance test conducted at 23+4 week of gestation, however, the blood sugar was well-controlled by life style modification without medication. The development of fetus was appropriate to the gestational age and antenatal care did not show any particular sign. During this pregnancy, she continuously took the prednisolone (minimum dose 7.5 mg/day to maximum dose 15 mg/day) prescribed by endocrinology department. She delivered 3,250 g female baby at 38+2 week of gestation, by cesarean section. The baby exhibited normal Apgar score and did not require oxygen or respiratory assistance. Four years old baby and eleventh month old bay have shown normal external genitalia and normal development up to now."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"dexamethasone ( minimum dose 0.5 mg / day to maximum dose 1.0 mg / day )",
"changed to prednisolone and the endocrinology department had prescribed it ( minimum dose 10 mg / day to maximum dose 20 mg / day ) before pregnancy ."
] |
test-1153
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"hemoglobin level of 13.1 g / dL; white blood cell count, 17,800 / mm 3; platelet count, 553,000 / mm 3"
] |
test-1154
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Gastrointestinal-System
|
GI
|
[
"abdominal discomfort, diarrhea and weight loss",
"cachectic and his abdomen slightly distended with shifting dullness",
"diarrhea more than 10 times daily",
"protracted diarrhea,",
"marked improvement of the diarrhea",
"abdominal pain"
] |
test-1155
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Patient-History
|
History
|
[
"A 56 - year - old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital."
] |
test-1156
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Neurology
|
Neuro
|
[
"general weakness,",
"depressed and agitated",
"mental change"
] |
test-1157
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Laboratory examination revealed a hemoglobin level of 13.1 g / dL; white blood cell count, 17,800 / mm 3; platelet count, 553,000 / mm 3; albumin, 2.6 g / dL; total bilirubin, 0.3 mg / dL; GOT, 48 IU / L; GPT, 22 IU / L; and alkaline phosphatase, 117 IU / L. His serum amylase was 856 IU / L and serum lipase 1,077 IU / L.",
"computed tomographic ( CT ) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted",
"His serum zinc level was found to have fallen to 17.4 μ g / dL ( normal range, 70 to 150 μ g / dL )",
"A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction"
] |
test-1158
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1159
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Endocrinology
|
ENDO
|
[] |
test-1160
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Genitourinary-System
|
GU
|
[] |
test-1161
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Respiratory-System
|
RESP
|
[] |
test-1162
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1163
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-1164
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Dermatology
|
DERM
|
[
"multiple skin lesions",
"skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet",
"typical skin lesions",
"skin lesions began to alleviate",
"By this time, his skin lesions had almost healed"
] |
test-1165
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-1166
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1167
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"56 - year - old"
] |
test-1168
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1169
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
test-1170
|
4531688
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a hemoglobin level of 13.1 g/dL; white blood cell count, 17,800/mm 3 ; platelet count, 553,000/mm 3 ; albumin, 2.6 g/dL; total bilirubin, 0.3 mg/dL; GOT, 48 IU/L; GPT, 22 IU/L; and alkaline phosphatase, 117 IU/L. His serum amylase was 856 IU/L and serum lipase 1,077 IU/L. A computed tomographic (CT) scan of the abdomen ( Figure 1 ) revealed evidence of acute exacerbated, chronic pancreatitis, including pseudocysts, one of which was approximately 7 cm in diameter and was located in the tail of the pancreas with adjacent splenic vein occlusion. In addition, right portal vein occlusion, with corresponding perfusion defect and liver infarction, was noted. The patient was treated initially with intravenous fluids, antibiotics and TPN. Two weeks after treatment including TPN, the patient exhibited multiple skin lesions and continued to experience diarrhea more than 10 times daily. These skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet ( Figure 2B, 2C ). He became depressed and agitated. In view of typical skin lesions, mental change and protracted diarrhea, we strongly suspected acrodermatitis enteropathica due to zinc deficiency. His serum zinc level was found to have fallen to 17.4 μ g/dL (normal range, 70 to 150 μ g/dL) and, therefore, we initiated therapy with zinc sulfate at 5 mg daily. Three to four days of zinc supplementation produced marked improvement of the diarrhea and, after one week of zinc supplementation, the skin lesions began to alleviate. The patient continued to do well until five weeks after TPN when abdominal pain and fever developed. With strong suspicions of an infected pancreatic pseudocyst, we performed an abdominal CT scan and subsequently a percutaneous pigtail insertion to drain the pseudocyst. Soon thereafter, he felt well with no pain or fever. A repeat CT scan 10 days later showed total collapse of the pseudocyst and resolution of the PVT and liver infarction. On the 74th hospital day, he was discharged without any problem. By this time, his skin lesions had almost healed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"we initiated therapy with zinc sulfate at 5 mg daily . Three to four days of zinc supplementation produced marked improvement of the diarrhea and , after one week of zinc supplementation , the skin lesions began to alleviate ."
] |
test-1171
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-1172
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-1173
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Patient-History
|
History
|
[
"A one - and - half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis."
] |
test-1174
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Neurology
|
Neuro
|
[] |
test-1175
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Blood investigations, chest X - ray, urine examination showed no abnormality",
"Histopathological examination was done which revealed mild hyperkeratosis"
] |
test-1176
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-1177
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Endocrinology
|
ENDO
|
[] |
test-1178
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Genitourinary-System
|
GU
|
[
"Left - sided cryptorchidism was present",
"cryptorchidism"
] |
test-1179
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Respiratory-System
|
RESP
|
[] |
test-1180
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1181
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis",
"Ophthalmological examination was done and no abnormality found"
] |
test-1182
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Dermatology
|
DERM
|
[
"generalized scaling over whole body and redness over both cheeks.",
"no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer",
"fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish - grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish - brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose",
"Histopathological examination was done which revealed mild hyperkeratosis",
"generalized scaling with flexural involvement"
] |
test-1183
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Pregnancy
|
Pregnancy
|
[
"prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane",
"prolonged labor"
] |
test-1184
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-1185
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"one - and - half year old"
] |
test-1186
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-1187
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
test-1188
|
4601419
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer. Immunization was completed according to the immunization schedule. There was no family history of similar kind of illness. There was no history of any drug intake prior to the scaling or atopic diathesis. On examination there was fine white to brown scaling over the whole body without any spared area with glistening surface over palms and soles with involvement of flexures. On the scalp fine whitish-grey and grayish brown scaling was present and in some areas there was thick crusting which on removal revealed a moistened surface. On the frontal scalp margin, there were large grayish-brown ichthyotic scales. Both the cheeks were erythematous along with scaling and scales also involved the upper eyelid, upper lips and over the nose. There was no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis. Left-sided cryptorchidism was present for which the patient was referred to pediatric surgery and they have suggested waiting for another 6 months after which they would suggest surgical intervention. Ophthalmological examination was done and no abnormality found. Blood investigations, chest X-ray, urine examination showed no abnormality. Histopathological examination was done which revealed mild hyperkeratosis. As it is not confirmatory and does not help in making the diagnosis, we made a diagnosis of erythroderma due to X-linked ichthyosis as there were components of history of consanguinity and prolonged labor and examination showed cryptorchidism and generalized scaling with flexural involvement. The patient was prescribed emollient and urea 10% cream and after 4 weeks he showed improvement in scaling and oral retinoid was not needed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
test-1189
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"65 kg weight, 160 cm height and 116/82 blood pressure"
] |
test-1190
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Gastrointestinal-System
|
GI
|
[] |
test-1191
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Patient-History
|
History
|
[
"born of a non - consanguineous marriage following a full term normal vaginal delivery."
] |
test-1192
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Neurology
|
Neuro
|
[
"average intelligence and had no persistent aggressive, violent or criminal tendencies"
] |
test-1193
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Karyotyping showed 46XX pattern",
"Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X - ray were normal",
"Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17 - OH progesterone and dehydro - epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test"
] |
test-1194
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Cardiovascular-System
|
CVS
|
[] |
test-1195
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Endocrinology
|
ENDO
|
[
"gain weight, developed hirsutism and never attained menarche",
"External body habitus was of male and external genitalia was of female",
"no apparent cushingoid features",
"normal female internal genitalia and adrenals",
"thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17 - OH progesterone and dehydro - epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test"
] |
test-1196
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Genitourinary-System
|
GU
|
[
"never attained menarche",
"external genitalia was of female",
"normal female internal genitalia"
] |
test-1197
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Respiratory-System
|
RESP
|
[] |
test-1198
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Musculoskeletal-System
|
MSK
|
[] |
test-1199
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-1200
|
4040068
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced self in a husky masculine voice as Ms. T, a 21-year old female patient and expressed desire to be named as Mr. T, in further conversation. On interview, parents reported patient to be their eldest daughter born of a non-consanguineous marriage following a full term normal vaginal delivery. Parents reported since early childhood, patient was tomboyish, more comfortable playing with boys, watching wrestling and never showed interest in dolls or playing with younger sister or girls at school. Patient used to wear shirt and skirt to school, but at home used to prefer wearing T-shirt and jeans. From adolescence onwards, patient started to gain weight, developed hirsutism and never attained menarche. Mother had to frequently remove patient's facial hairs by hair removing cream. Patient started to feel attracted towards females though never had any sexual contact. Patient started to develop strong disliking towards self being called as a female, withdrew self from female friends and interest in studies declined; but never verbalised these feelings to anyone. 17 years onwards, after completing high school patient started to express strong resentment. Thereafter, with parents consent patient started to dress as males, stopped removing facial hairs. From 18 years onwards, proclaiming self as Mr. T patient started to work as a salesman. Patient and parents were happy with the new desirable identity. Difficulties faced were using common urinals, feeling ashamed of getting the anatomical sex being disclosed and inability to study further or procure a white collared job because of high school certificate mentioning sex as female. Despite these problems, patient was more comfortable in male gender role and since past 2 years, started seeking help for gender affirmation surgery. Patient appeared to be of average intelligence and had no persistent aggressive, violent or criminal tendencies. There was no past history of taking any hormones exogenously. Examination revealed 65 kg weight, 160 cm height and 116/82 blood pressure. External body habitus was of male and external genitalia was of female. There were no apparent cushingoid features. Karyotyping showed 46XX pattern. Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X-ray were normal. Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone, estrogen, cortisol were within the normal limit. 17-OH progesterone and dehydro-epiandrosteine were elevated and showed complete suppression with low dose dexamethasone suppression test suggesting diagnosis of non-classical congenital adrenal hyperplasia."}
|
Dermatology
|
DERM
|
[
"Mother had to frequently remove patient 's facial hairs by hair removing cream"
] |
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