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stringclasses 18
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listlengths 0
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test-2401
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Endocrinology
|
ENDO
|
[] |
test-2402
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Genitourinary-System
|
GU
|
[] |
test-2403
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Respiratory-System
|
RESP
|
[] |
test-2404
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Musculoskeletal-System
|
MSK
|
[
"Achilles tendon xanthoma",
"normal muscle tone in the extremities, grade 5 muscle strength",
"Left - ankle - joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within",
"patient has been weak",
"swelling in her left Achilles tendon, pain, and skewed walking to the right side",
"biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages"
] |
test-2405
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"cataract",
"cataract"
] |
test-2406
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Dermatology
|
DERM
|
[] |
test-2407
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2408
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2409
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"33 - year - old",
"33 - year - old"
] |
test-2410
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-2411
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"the patient ’s history of CTX was identified",
"On the basis of these findings , the patient was ultimately diagnosed with CTX"
] |
test-2412
|
10701218
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
{'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.', 'Physical examination': 'During hospitalization in the psychiatric ward, the patient’s brief psychiatric rating sale (BPRS) score was 40, her Wechsler intelligence scale score was 65, and the total biliary acid returned to normal levels. Nervous system examination showed normal muscle tone in the extremities, grade 5 muscle strength, instability in the heel-knee-tibia test of the right lower extremity, and a positive Romberg sign. In the mental status examination, the patient exhibited the following: verbal auditory hallucination; delusions of persecution; negative perceptions; irritability; childish emotions; poor general knowledge, understanding, judgment, and calculation; impulsivity; and lack of insight.', 'Imaging examinations': 'Brain magnetic resonance imaging (MRI) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1-weighted images (T1WI) (Figure 2A ) and a slight increase in signal intensity on fluid attenuated inversion recovery (FLAIR) (Figure 2B ). Left-ankle-joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a slightly elevated signal intensity on T1WI and a similar slightly elevated signal intensity on the proton density weighted image, accompanied by linear hypointensity within (Figure 1B ). Brain magnetic resonance spectroscopy (MRS) showed decreases in N-acetylaspartate (NAA) intensities and increases in lactate and lipid signals (Figure 2C and D ).', 'Laboratory examinations': 'After nearly 3 years of adequate chenodeoxycholic acid treatment, the total biliary acid level returned to normal.', 'History of present illness': "For 6 mo, the patient showed hostility towards her colleagues, firmly believing that they wanted to harm her. She could hear abusive voices of colleagues when she was alone. The false belief and voice interfered with the social relations and behavior of the patient, leading to outrunning behavior. In addition, the patient exhibited impulsive acts and temperamental behavior, such as tearing people's clothes, smashing things, standing outside naked when she became excited, and running around at midnight. She also experienced severe depression for several days, with crying and expressing a desire to commit suicide by euthanasia.", 'History of past illness': 'According to her mother, the patient has been weak and obtuse since childhood and was unable to pass primary school exams. She required supervision and care from her family in her personal life. Despite being able to work, she could not perform her job well and did not get along with her colleagues, leading to her dismissal from several companies. At age 18, she underwent cataract surgery, and at age 26, she underwent cholecystectomy for cholestasis. A review of the patient’s medical records revealed that she presented with swelling in her left Achilles tendon, pain, and skewed walking to the right side 5 years ago. Three years ago, she was admitted to the neurology department, where biochemical tests revealed an elevated total biliary acid level of 11.2 µmol/L (normal value ≤ 10.0) and decreased levels of chenodeoxycholic acid and ursodeoxycholic acid. Subsequently, a biopsy of the left Achilles tendon was performed, revealing numerous lipid crystals and a few foamy macrophages (Figure 1A ). The patient underwent genetic analysis, which identified two mutations in the CYP27A1 gene associated with CTX: c.1263 + 3G>C and c.379C>T. On the basis of these findings, the patient was ultimately diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/d) and rosuvastatin (10 mg/d).'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"prescribed chenodeoxycholic acid ( 750 mg / d )"
] |
test-2413
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-2414
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-2415
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[
"6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week"
] |
test-2416
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[
"headache",
"no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits"
] |
test-2417
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[
"2D - echo and electrocardiogram were investigated to check for cardiac involvement but were normal",
"A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid - dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material ( mucin ). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition"
] |
test-2418
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[
"no history of breathlessness, chest pain, palpitations, claudicating pain",
"2D - echo and electrocardiogram were investigated to check for cardiac involvement but were normal."
] |
test-2419
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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-2420
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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-2421
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[
"no history of breathlessness, chest pain"
] |
test-2422
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[] |
test-2423
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[
"blurring of vision, photophobia",
"Fundus examination of both eyes showed dark brownish - red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks"
] |
test-2424
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[
"6 year history of increased laxity of the skin over the neck, thighs, and abdomen",
"prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin - colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin - colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face",
"A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid - dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material ( mucin ). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition"
] |
test-2425
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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
|
[] |
test-2426
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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-2427
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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)
|
[
"38 - year - old"
] |
test-2428
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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)
|
[] |
test-2429
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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)
|
[
"Based on the clinical and histopathological findings , a diagnosis of PXE was made ."
] |
test-2430
|
10040992
|
{'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits. On cutaneous examination, prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin-colored papule of a size of 2 mm was present over the right lower lid, near the medial canthus, and similar skin-colored to yellowish papules of a size of 1.5–2 mm were noted over the neck and face. Fundus examination of both eyes showed dark brownish-red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks. 2D-echo and electrocardiogram were investigated to check for cardiac involvement but were normal. A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid-dermis and lower dermis with intervening sclerotic areas that were seen extending to the lower dermis. Certain areas in the dermis showed a pale interstitial material (mucin). Verhoeff Van Gieson staining showed elastic fibers with a short and curled appearance. Von Kossa staining was performed, and it showed evidence of calcium deposition. Based on the clinical and histopathological findings, a diagnosis of PXE was made. The patient was started on oral and topical sunscreens, advised rigid eye protection to prevent accidental blunt trauma, and regular follow-up.', '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-2431
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg ( 75th-90th centile ) and his height measured 138 cm ( 50th centile )"
] |
test-2432
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Gastrointestinal-System
|
GI
|
[] |
test-2433
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Patient-History
|
History
|
[
"history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4 - 5 years"
] |
test-2434
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Neurology
|
Neuro
|
[
"restlessness, anger, and dizziness"
] |
test-2435
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size ( right and left testicular volume – 2.9 mL and 2.8 mL respectively ) with multiple well - defined round to oval hetero - echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B ). On screening abdominal sonography, a large well - defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity",
"Contrast - enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands ( left > right ) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A ). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C ). Serum tumor markers ( alpha - fetoprotein, LDH, and Beta hCG ) were negative",
"Grayscale US of scrotum showing normal - sized right testis with heterogeneous appearance. ( B ) US image of bilateral testes with multiple nodules containing tiny calcific foci ( black arrow ). Fig 1 Fig. 2 ( A ) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. ( B ) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 ( A ) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions ( white arrow ). ( B ) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions ( white arrow ). Fig 3 Fig. 4 ( A ) Contrast enhanced computed tomography ( CECT ) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia ( White arrows ). ( B ) CECT pelvis axial section showing multiple enhancing nodules in the right testis ( black arrow ). ( C ) CECT pelvis axial section showing multiple enhancing nodules in left testis ( black arrow ). Fig 4 X - ray left wrist AP / lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq / L ( normal range : 3.5 - 4.5 mEq / L ), whereas the sodium level remained within normal limits at 140 mEq / L. There was a significantly heightened level of 17 - hydroxyprogesterone at 1800 ng / dL ( normal range : < 110 ng / dL ), accompanied by normal levels of lactate dehydrogenase ( LDH ), beta - human chorionic gonadotropin hormone ( B - HCG ), and alpha - fetoprotein ( AFP ). Additionally, the serum adrenocorticotropic hormone ( ACTH ) concentration was elevated, measuring 564 pg / mL ( normal range : 7.2 - 63.3 pg / mL ), while cortisol levels were diminished, measuring 5.7 µg / dL ( normal range : 7 - 25 µg / dL ). Dehydroepiandrosterone sulfate ( DHEA - S ) was measured at 5.25 µmol / L ( normal range : ≤ 3.726 µmol / L ), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng / dL ( normal range : 31 - 65 ng / dL ), and there was a reduced level of Inhibin B, measuring 71.1 pg / mL ( normal range : 240 - 445 pg / mL )."
] |
test-2436
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Cardiovascular-System
|
CVS
|
[
"palpitation"
] |
test-2437
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Endocrinology
|
ENDO
|
[
"Tanner staging was done which was stage 3 for genitalia ( testis length 3.5 cm, penile length 10 cm ) and stage 3 for pubic hair."
] |
test-2438
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Genitourinary-System
|
GU
|
[
"bilateral scrotal enlargement",
"bilateral scrotal swelling with normal - appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia ( testis length 3.5 cm, penile length 10 cm ) and stage 3 for pubic hair",
"Bilateral testis was normal in size ( right and left testicular volume – 2.9 mL and 2.8 mL respectively ) with multiple well - defined round to oval hetero - echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity",
"Bilateral testes appeared hypodense with multiple enhancing nodules within",
"Grayscale US of scrotum showing normal - sized right testis with heterogeneous appearance. ( B ) US image of bilateral testes with multiple nodules containing tiny calcific foci ( black arrow ). Fig 1 Fig. 2 ( A ) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. ( B ) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity",
"CECT pelvis axial section showing multiple enhancing nodules in the right testis ( black arrow ). ( C ) CECT pelvis axial section showing multiple enhancing nodules in left testis",
"serum potassium concentration was found to be elevated at 5.8 mEq / L ( normal range : 3.5 - 4.5 mEq / L ), whereas the sodium level remained within normal limits at 140 mEq / L."
] |
test-2439
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Respiratory-System
|
RESP
|
[] |
test-2440
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-2441
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-2442
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Dermatology
|
DERM
|
[
"Generalized skin hyperpigmentation was present"
] |
test-2443
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2444
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2445
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"11 - year - old"
] |
test-2446
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-2447
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"these findings point towards a diagnosis of congenital adrenal hyperplasia"
] |
test-2448
|
10542771
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
{'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg (75th-90th centile) and his height measured 138 cm (50th centile). Generalized skin hyperpigmentation was present. Systemic examinations were normal. Local examination revealed bilateral scrotal swelling with normal-appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia (testis length 3.5 cm, penile length 10 cm) and stage 3 for pubic hair. The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size (right and left testicular volume – 2.9 mL and 2.8 mL respectively) with multiple well-defined round to oval hetero-echoic nodules with calcific foci within and color Doppler showed increased peripheral and internal vascularity ( Figs. 1 A, B and 2 A, B). On screening abdominal sonography, a large well-defined triangular hypoechoic lesion was noted in the left suprarenal region and a smaller similar lesion in the right suprarenal region without internal vascularity ( Figs. 3 A and B). Based on these findings, the possibility of testicular malignancy with adrenal metastasis was considered. Contrast-enhanced CT abdomen and pelvis were performed which showed homogeneously enhancing enlarged bilateral adrenal glands (left>right) with maintained shape, suggesting adrenal hyperplasia ( Fig. 4 A). Bilateral testes appeared hypodense with multiple enhancing nodules within ( Fig. 4 B and C). Serum tumor markers (alpha-fetoprotein, LDH, and Beta hCG) were negative hence, the diagnosis was reconsidered for the possibility of testicular adrenal rest tumors in an undiagnosed case of congenital adrenal hyperplasia. Fig. 1 (A) Grayscale US of scrotum showing normal-sized right testis with heterogeneous appearance. (B) US image of bilateral testes with multiple nodules containing tiny calcific foci (black arrow). Fig 1 Fig. 2 (A) Color Doppler US of scrotum showing iso to heteroechoic nodules within right testis with increased vascularity. (B) Color Doppler US of scrotum showing iso to heteroechoic nodules within left testis with increased vascularity. Fig 2 Fig. 3 (A) Grayscale US of the abdomen showing triangular hypoechoic lesions in right suprarenal regions (white arrow). (B) Grayscale US of the abdomen showing triangular hypoechoic lesions in left suprarenal regions (white arrow). Fig 3 Fig. 4 (A) Contrast enhanced computed tomography (CECT) image of abdomen in coronal reformatted section showing bilateral adrenal hyperplasia (White arrows). (B) CECT pelvis axial section showing multiple enhancing nodules in the right testis (black arrow). (C) CECT pelvis axial section showing multiple enhancing nodules in left testis (black arrow). Fig 4 X-ray left wrist AP/lateral view was done for estimating the bone age which showed accelerated bone age corresponding to approximately 18 years of age ( Fig. 5 ). The serum potassium concentration was found to be elevated at 5.8 mEq/L (normal range: 3.5-4.5 mEq/L), whereas the sodium level remained within normal limits at 140 mEq/L. There was a significantly heightened level of 17-hydroxyprogesterone at 1800 ng/dL (normal range: <110 ng/dL), accompanied by normal levels of lactate dehydrogenase (LDH), beta-human chorionic gonadotropin hormone (B-HCG), and alpha-fetoprotein (AFP). Additionally, the serum adrenocorticotropic hormone (ACTH) concentration was elevated, measuring 564 pg/mL (normal range: 7.2-63.3 pg/mL), while cortisol levels were diminished, measuring 5.7 µg/dL (normal range: 7-25 µg/dL). Dehydroepiandrosterone sulfate (DHEA-S) was measured at 5.25 µmol/L (normal range: ≤ 3.726 µmol/L), reflecting an increase. Moreover, androstenedione levels were elevated at 250 ng/dL (normal range: 31-65 ng/dL), and there was a reduced level of Inhibin B, measuring 71.1 pg/mL (normal range: 240-445 pg/mL). Collectively, these findings point towards a diagnosis of congenital adrenal hyperplasia. The patient is currently undergoing treatment with hydrocortisone and is on regular follow-up. The 3-month follow-up revealed clinical improvement with a reduction in testis size and decreased ACTH levels, indicating positive progress. Fig. 5 X-ray of left wrist AP and a lateral view showing accelerated bone age corresponding to approximately 18 years. Fig 5', 'Patient consent': 'Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"The patient is currently undergoing treatment with hydrocortisone and is on regular follow - up . The 3 - month follow - up revealed clinical improvement with a reduction in testis size and decreased ACTH levels , indicating positive progress ."
] |
test-2449
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
test-2450
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Gastrointestinal-System
|
GI
|
[
"recurring episodes of intense abdominal pain",
"uncontrollable vomiting"
] |
test-2451
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Patient-History
|
History
|
[
"We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department",
"abdominal surgery for suspected acute appendicitis",
"However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury",
"Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation",
"Over the past years, her symptoms have been sporadic, and she has not required hospitalization"
] |
test-2452
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Neurology
|
Neuro
|
[
"weakness in her upper and lower extremities",
"insomnia",
"paralysis"
] |
test-2453
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"episode of elevated urine PBG during a crisis",
"elevated urine PBG was even detected during asymptomatic periods.",
"This analysis revealed a heterozygous state mutation, c.457C > T ( p. Q153, exon 9, HMBS gene"
] |
test-2454
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Cardiovascular-System
|
CVS
|
[] |
test-2455
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Endocrinology
|
ENDO
|
[] |
test-2456
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Genitourinary-System
|
GU
|
[] |
test-2457
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Respiratory-System
|
RESP
|
[] |
test-2458
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Musculoskeletal-System
|
MSK
|
[
"weakness in her upper and lower extremities"
] |
test-2459
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
test-2460
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Dermatology
|
DERM
|
[] |
test-2461
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2462
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2463
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"28‐year‐old"
] |
test-2464
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age of 17"
] |
test-2465
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"confirmed the diagnosis of AIP"
] |
test-2466
|
10600359
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
{'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency department. Despite undergoing normal biochemical and imaging tests, not responding to pain relief medications, and even undergoing abdominal surgery for suspected acute appendicitis, her symptoms persisted. After enduring nearly 3 years of almost daily symptoms, an episode of elevated urine PBG during a crisis finally confirmed the diagnosis of AIP. Treatment with hematin derivatives (Normosang®, Panhematin®) was initiated, resulting in partial improvement. However, subsequent years witnessed progressively severe crises, some accompanied by paralysis and kidney injury. Remarkably, elevated urine PBG was even detected during asymptomatic periods. Notably, her first cousin was also diagnosed with AIP and had a similar clinical presentation. A molecular genetic study was conducted at a reference center in Belgium. All coding exons (1, 3–15), including parts of the adjacent intronic sequences and regions of the 5′‐ and 3´‐UTR of the HMBS gene, were PCR‐amplified from genomic DNA. The amplicons underwent direct sequencing using capillary electrophoresis and the BigDye technology (Applied Biosystems). Data alignment and comparison with the wildtype sequence (NM_000190.3) were performed using the GenBank Database. This analysis revealed a heterozygous state mutation, c.457C > T (p.Q153, exon 9, HMBS gene). At the age of 38, she enrolled in a clinical trial for Givosiran, an RNA interference therapeutic targeting ALAS1 mRNA. Remarkably, she exhibited a notable response to the treatment and continued it even after the trial. Over the past years, her symptoms have been sporadic, and she has not required hospitalization. The patient is now 42 years old.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Treatment with hematin derivatives ( Normosang ® , Panhematin ® ) was initiated , resulting in partial improvement",
"At the age of 38 , she enrolled in a clinical trial for Givosiran , an RNA interference therapeutic targeting ALAS1 mRNA . Remarkably , she exhibited a notable response to the treatment and continued it even after the trial"
] |
test-2467
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"systolic blood pressure 180 mm Hg"
] |
test-2468
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Gastrointestinal-System
|
GI
|
[
"worsening abdominal pain",
"abdominal pain was severe, generalized, non - radiating and associated with constipation"
] |
test-2469
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Patient-History
|
History
|
[
"A 26 - year - old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications ( OCPS ), presented with a 5 - day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities.",
"The abdominal pain was severe, generalized, non - radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle"
] |
test-2470
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Neurology
|
Neuro
|
[
"tingling sensation in her hands",
"seizure and postictal confusion",
"Magnetic Resonance ( MR ) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES"
] |
test-2471
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Multiple pelvic examinations and 3 computerized tomography ( CT ) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen",
"initial laboratory studies showed hypokalemia ( potassium 3.4 mmol / L, reference range 3.5–5.1 mmol / L ), and an elevated creatinine 1.14 mg / dl ( baseline around 0.80 mg / dl ). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit",
"serum sodium decreased abruptly from 136 mmol / L to 127 mmol / L ( range : 135–145 mmol / L ). Serum osmolality was low at 271 mOsm / kg ( range : 280–300mOsm / kg ), urine sodium was markedly elevated at 168 mmol / L and urinalysis was remarkable for increased urine specific gravity ( > 1.042 )",
"Magnetic Resonance ( MR ) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES",
"urine porphobilinogen was measured and was found to be elevated at 188.4 mg / L ( range : 0.0–2.0 mg / L ). 24 - hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr ( range : 0.0–1.5mg/24hr )"
] |
test-2472
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Cardiovascular-System
|
CVS
|
[
"significant hypertension ( systolic blood pressure 180 mm Hg )"
] |
test-2473
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Endocrinology
|
ENDO
|
[
"serum sodium decreased abruptly from 136 mmol / L to 127 mmol / L ( range : 135–145 mmol / L ). Serum osmolality was low at 271 mOsm / kg ( range : 280–300mOsm / kg ), urine sodium was markedly elevated at 168 mmol / L and urinalysis was remarkable for increased urine specific gravity ( > 1.042 ).",
"Syndrome of Inappropriate Antidiuretic Hormone secretion ( SIADH )"
] |
test-2474
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Genitourinary-System
|
GU
|
[
"ruptured ovarian cyst,",
"A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen",
"was in the luteal phase of her menstrual cycle",
"hypokalemia ( potassium 3.4 mmol / L, reference range 3.5–5.1 mmol / L ), and an elevated creatinine 1.14 mg / dl ( baseline around 0.80 mg / dl ).",
"red discoloration of urine"
] |
test-2475
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Respiratory-System
|
RESP
|
[] |
test-2476
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Musculoskeletal-System
|
MSK
|
[] |
test-2477
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"acute visual disturbances"
] |
test-2478
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Dermatology
|
DERM
|
[] |
test-2479
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Pregnancy
|
Pregnancy
|
[] |
test-2480
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Lymphatic-System
|
LYMPH
|
[] |
test-2481
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"26 - year - old"
] |
test-2482
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
test-2483
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"acute porphyria"
] |
test-2484
|
10589034
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
|
{'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities. Multiple pelvic examinations and 3 computerized tomography (CT) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen. The abdominal pain was severe, generalized, non-radiating and associated with constipation. Of note, the patient had recently been engaging in significant exercises, and was in the luteal phase of her menstrual cycle. On prior hospitalizations, her recurrent abdominal was assumed to be secondary to a ruptured ovarian cyst. On presentation, initial laboratory studies showed hypokalemia (potassium 3.4 mmol/L, reference range 3.5–5.1 mmol/L), and an elevated creatinine 1.14 mg/dl (baseline around 0.80 mg/dl). Pelvic examination was again benign. A small bowel followthrough showed significant delay in contrast transit, which was managed conservatively ( Fig. 1 ). Patient also reported tingling sensation in her hands and red discoloration of urine. On hospital day 2, serum sodium decreased abruptly from 136 mmol/L to 127 mmol/L (range: 135–145 mmol/L). Serum osmolality was low at 271 mOsm/kg (range: 280–300mOsm/kg), urine sodium was markedly elevated at 168 mmol/L and urinalysis was remarkable for increased urine specific gravity (>1.042). A diagnosis of Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) was made, and water restriction and salt tablet intake were initiated. Early hospital course was complicated by significant hypertension (systolic blood pressure 180 mm Hg), acute visual disturbances followed by seizure and postictal confusion. Magnetic Resonance (MR) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES and Levetiracetam was initiated ( Fig. 2 ). Given suspicion of acute porphyria, urine porphobilinogen was measured and was found to be elevated at 188.4 mg/L (range: 0.0–2.0 mg/L). 24-hour urine Uroporphyrin was also significantly elevated at 135.6mg/24hr (range: 0.0–1.5mg/24hr). Delta-Aminolevulinic Acid (ALA) and PBGD urine tests were ordered. Since Hemin treatment was unavailable at our facility, patient was transferred to a tertiary center. Patient was treated with Hematin, and symptomatic improvement ensued ( Table 1 ).'}
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IEM-Treatment
|
IEM_Treatment
|
[
"Hemin treatment was unavailable at our facility"
] |
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