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3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Endocrinology
|
ENDO
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Genitourinary-System
|
GU
|
[
"pink - stained urine as a newborn",
"history of pink - stained diapers"
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Respiratory-System
|
RESP
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Dermatology
|
DERM
|
[
"episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation ( fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas.",
"Severe cutaneous photosensitivity, blistering of light - exposed skin",
"bullae healed, leaving milia and hyperpigmented scars"
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Pregnancy
|
Pregnancy
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"5 - year - old"
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"Disease onset occurred in the tenth month of life"
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"CEP"
] |
3635963
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation (fig. 1a ). They appeared constantly and got worse during the spring and summer months. Hypertrichosis developed on unprotected skin areas. Spleen enlargement was also observed. Urine porphyrins were extremely elevated to 16 μmol/dl with a predominance of coproporphyrins and uroporphyrins. However, the detailed concentration of each porphyrin was not analyzed. Severe cutaneous photosensitivity, blistering of light-exposed skin, history of pink-stained diapers and accumulation of porphyrins in the blood and various other tissues, particularly erythrodontia (fig. 1b ), suggested the diagnosis of CEP. The clinical and biochemical data of the patient are summarized in table 1 . With strict avoidance of UV and visible light, use of topical sunscreen, oral treatment with β-carotene and antibiotic for preventing bacterial infection of the skin, the bullae healed, leaving milia and hyperpigmented scars without the need of a blood transfusion. Mutation analysis of the UROS gene of the patient with CEP was performed. The DNA of exons 2–10 including splicing junctions of all exons was amplified by PCR and then sequenced. A single missense mutation corresponding to a G-to-T transversion (11,776 g>t) in exon 2 was found, leading to an amino acid change from valine at position 3 to phenylalanine (fig. 2 ). The result indicated that the patient was homozygous for this mutation. Then, we also analyzed the UROS genes of her parents who were shown to be heterozygote carriers of this mutation (fig. 3 ). Her brother had died of a disease similar to hers in terms of symptoms and abnormalities, suggesting that he had the same gene mutation (V3F). Conversely, on the basis of the pedigree analysis spanning three generations, no other symptomatic patients were found. To confirm the genotype-phenotype relationship, we constructed a pET-duet vector carrying mutated cDNA of UROS and transformed it into an Escherichia coli BL21 strain. The expression of UROS in bacteria was induced at 25°C. After purification of the expressed enzyme with nickel ion-beads (Qiagen Inc., Valencia, Calif., USA), the activity of mutated UROS (V3F) was compared with that of normal enzyme by the method of Wright and Lim. The specific activity of the mutated UROS was less than 16.1% that of the control.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"strict avoidance of UV and visible light , use of topical sunscreen ,"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"anemia"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Gastrointestinal-System
|
GI
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Patient-History
|
History
|
[
"A 20 - year - old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall - out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva ( xerostomia ), poor formation of tear ( xerophthalmia ), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood.",
"The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable.",
"There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar - plantar hyperkeratosis without any other complaints she presented, particularly dental problems.",
"similar palmo - plantar hyperkeratotic lesions of her parents and of few neighbors"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Neurology
|
Neuro
|
[
"normal mental development,"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia",
"Serological tests like anti - nuclear antibody, anti - cytoplasmic neutrophilic antibody, HIV - I and II, and VDRL were negative",
"Chest X - ray posterior - anterior view was within normal limit. Orthopantomonograph ( OPG ) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “ floating in air ” appearance.",
"Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Cardiovascular-System
|
CVS
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Endocrinology
|
ENDO
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Genitourinary-System
|
GU
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Respiratory-System
|
RESP
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"frequent dental caries,",
"fall - out of teeth from time to time",
"poor formation of saliva ( xerostomia ), poor formation of tear ( xerophthalmia ), recurrent conjunctivitis,",
"frequent pharyngitis, otitis, rhinitis,",
"her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years.",
"permanent teeth too were lost prematurely after having erupted normally",
"patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries.",
"Orthopantomonograph ( OPG ) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “ floating in air ” appearance."
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Dermatology
|
DERM
|
[
"persistent thickening, flaking, and scaling of the skin of her palms and soles",
"alopecia",
"pyogenic skin lesions",
"presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands",
"there were symmetrical, well - demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo / hyper - pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes",
"mild to moderate pallor",
"palmo - planter hyperkeratosis."
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Pregnancy
|
Pregnancy
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"20 - year - old"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"since the age of 3–4 years"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"chronic arsenicosis"
] |
3683185
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent thickening, flaking, and scaling of the skin of her palms and soles for past 14 years. She also complained of poor formation of saliva (xerostomia), poor formation of tear (xerophthalmia), recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9–10 years. The remainder of her past medical history was unremarkable. There was a family history of acquired palmoplantar keratodermas of her parents. She also informed that many of her neighbors of her locality had similar palmar-plantar hyperkeratosis without any other complaints she presented, particularly dental problems. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees, few areas of hypo/hyper-pigmentation of anterior and posterior part of the chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; she also had decreased body hair and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that patient′s central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing. All permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable, except for mild to moderate pallor. Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and II, and VDRL were negative. Chest X-ray posterior-anterior view was within normal limit. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a “floating in air” appearance. At this point, we made a clinical provisional diagnosis of Papillon-Lefevre syndrome, with a possible differential diagnosis of chronic arsenicosis. All the clinical features were in favor of Papillon-Lefevre syndrome, except for those that were similar palmo-plantar hyperkeratotic lesions of her parents and of few neighbors. Histopathology of skin lesions was not done as her parents declined a biopsy. To rule out chronic arsenicosis, we decided to send her hair and nail for estimation of arsenic level by neutron activation analysis at our own costs as she was from a poor family. Neutron activation analysis of hair and nail proved the diagnosis of chronic arsenicosis. She and her parents and affected neighbors were advised to change the source of drinking water. She was initiated with a standard dose of penicillamine as a chelating agent and was referred to a dermatologist for treatment of palmo-planter hyperkeratosis.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"standard dose of penicillamine as a chelating agent"
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Gastrointestinal-System
|
GI
|
[
"upper abdominal discomfort for 15–20 days",
"pendulous abdomen.",
"hepatomegaly",
"protuberant abdomen"
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Patient-History
|
History
|
[
"A 12 - year - old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days"
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Neurology
|
Neuro
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm – sized, well - defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well - circumscribed, low - attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted.",
"increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits",
"histopathological examination along with a small bit of liver tissue, which showed PAS - positive glycogen - rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma."
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Cardiovascular-System
|
CVS
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Endocrinology
|
ENDO
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Genitourinary-System
|
GU
|
[
"Multiple small bilateral renal calculi were also noted.",
"bilateral renal calculi"
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Respiratory-System
|
RESP
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Musculoskeletal-System
|
MSK
|
[
"retarded growth ( dwarfism )",
"clinical features of dwarfism"
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Dermatology
|
DERM
|
[
"facial dysmorphism"
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Pregnancy
|
Pregnancy
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"12 - year - old"
] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
3354359
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm–sized, well-defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well-circumscribed, low-attenuation, subcapsular focal lesion in segment VI of the right lobe; this lesion showed mild to moderate heterogeneous contrast enhancement and had a nonenhancing area within it. Multiple small bilateral renal calculi were also noted. Hepatomegaly with diffusely low attenuation of liver, bilateral renal calculi (which hinted at hyperuricemia – a known feature of von Gierke disease), clinical features of dwarfism, facial dysmorphism, and protuberant abdomen, were all features that favored the diagnosis of von Gierke disease. Moreover, in the pediatric age-group, liver tumors are rare and hepatic adenoma occurs almost exclusively in patients with underlying von Gierke disease. CT scan features like well-circumscribed margins, subcapsular location, and contrast enhancement also supported the diagnosis of hepatic adenoma. Based on these CT scan findings and clinical features, a probable diagnosis of hepatic adenoma in a case of type Ia glycogen storage disease (von Gierke disease) was suggested. Preoperative laboratory evaluation revealed increased uric acid levels and raised cholesterol. The random blood sugar level was 60 mg%. Liver function tests were within normal limits. The patient was operated and the mass in the liver was surgically resected. The specimen was sent for histopathological examination along with a small bit of liver tissue, which showed PAS-positive glycogen-rich hepatic cells, confirming glycogen deposition in the liver, while the lesion itself was confirmed to be a hepatic adenoma.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Gastrointestinal-System
|
GI
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Patient-History
|
History
|
[
"An 18 - month - old boy born after an uncomplicated full - term pregnancy was hospitalized for psychomotor regression and drug - resistant myoclonic epilepsy.",
"There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected.",
"The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay."
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Neurology
|
Neuro
|
[
"psychomotor regression and drug - resistant myoclonic epilepsy.",
"myoclonus of the face and upper limbs,",
"psychomotor developmental delay.",
"macrocephaly of 51 cm",
"axial hypotonia with no further optical problems or responsiveness to light",
"Cerebral computed tomography ( CT ) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter ( Fig. 1 ).",
"With magnetic resonance imaging ( MRI ) the thalamus was hyperintense on T1 - weighted images and hypointense on T2 - weighted images ( Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Cerebral computed tomography ( CT ) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter ( Fig. 1 ). With magnetic resonance imaging ( MRI ) the thalamus was hyperintense on T1 - weighted images and hypointense on T2 - weighted images ( Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Cardiovascular-System
|
CVS
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Endocrinology
|
ENDO
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Genitourinary-System
|
GU
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Respiratory-System
|
RESP
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"no further optical problems or responsiveness to light.",
"cherry - red spot without optic atrophy"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Dermatology
|
DERM
|
[
"dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Pregnancy
|
Pregnancy
|
[
"born after an uncomplicated full - term pregnancy"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"18 - month - old"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"The onset of clinical symptoms began at the age of 6 months"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Sandhoff disease"
] |
3145082
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The other brother and sister were unaffected. The onset of clinical symptoms began at the age of 6 months with myoclonus of the face and upper limbs, recurrent fever and psychomotor developmental delay. Physical examination revealed a macrocephaly of 51 cm with a dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge. The neurological examination revealed an axial hypotonia with no further optical problems or responsiveness to light. Ophthalmologic examination showed a cherry-red spot without optic atrophy. Cerebral computed tomography (CT) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter (Fig. 1 ). With magnetic resonance imaging (MRI) the thalamus was hyperintense on T1-weighted images and hypointense on T2-weighted images (Fig. 2 ) with an increased T2 signal of the white matter. No imaging changes could be observed in the caudate nucleus, putamen, globus pallidum and brainstem. Clinical data and thalamic involvement suggest metabolic diseases such GM2 gangliosidosis (e.g. Tay-Sachs and Sandhoff diseases) or GM1 gangliosidosis (e.g. Landing disease), Canavan disease or Alexander disease. Chromatography of amino acids in the blood, urine and cerebrospinal fluid (CSF) was normal and chromatography of organic acids in the urine was also normal. Enzymatic assays were performed in France and revealed a deficiency of both hexosaminidases A and B confirming the diagnosis of Sandhoff disease.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"blood pressure and other vital signs were normal"
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Gastrointestinal-System
|
GI
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Patient-History
|
History
|
[
"A 21 - year - old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever",
"The patient had been married for 2 years. She had no history of abortion or any systemic complaints",
"Her family history was not contributory"
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Neurology
|
Neuro
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X - ray and EKG were also normal",
"The feces was negative for occult blood",
"Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid - dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium"
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Cardiovascular-System
|
CVS
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Endocrinology
|
ENDO
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Genitourinary-System
|
GU
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Respiratory-System
|
RESP
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"mucosa over the hard palate showed small, firm, yellowish - white plaques",
"Ocular examination did not reveal any abnormality"
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Dermatology
|
DERM
|
[
"pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture,",
"multiple brownish - black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal",
"fragmented, irregularly clumped, basophilic material throughout the mid - dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium."
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Pregnancy
|
Pregnancy
|
[
"nullipara",
"no history of abortion"
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"21 - year - old"
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"PXE"
] |
3371526
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The patient had been married for 2 years. She had no history of abortion or any systemic complaints. Her family history was not contributory. Her systemic examination was unremarkable; blood pressure and other vital signs were normal. Dermatologic examination revealed multiple brownish-black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over the area was soft, lax, and wrinkled. A few of the papules above the umbilicus were relatively keratotic. The rest of the skin was normal. The mucosa over the hard palate showed small, firm, yellowish-white plaques. Based on these findings we arrived at a clinical diagnosis of PXE. Ocular examination did not reveal any abnormality. The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X-ray and EKG were also normal. The feces was negative for occult blood. Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material throughout the mid-dermis. The section from the periumbilical plaque showed discontinuity of the epidermis through which the elastic fibers were being extruded through this break in the epithelium. The patient is being followed up and has been specifically instructed to report if she becomes pregnant.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105 / min, and a respiratory rate of 18 / min. His height was 152.5 cm ( < 3th percentile ) and body weight was 72.5 kg. The body mass index was 32.5."
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Gastrointestinal-System
|
GI
|
[
"dark urine, and jaundice"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Patient-History
|
History
|
[
"A 41 - yr - old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community - acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children."
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Neurology
|
Neuro
|
[
"generalized weakness,",
"carpal tunnel syndrome,"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Total and direct bilirubin levels were elevated at 11.6 mg / dL and 8.6 mg / dL, respectively. The AST and ALT levels were 224 and 1,044 U / L, respectively. Serum BUN level was 9.7 mg / dL, and serum creatinine level was 0.82 mg / dL. Serum electrolytes were normal. Based on a positive anti - HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty - four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements ( 226.4 µg/24 hr; 122.1 µg/24 hr ). Plasma cortisol was within the normal range ( 7.4 µg / dL ), however, ACTH level was very high ( 676.5 pg / mL ). Urine 17 - OHCS and 17 - ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated ( 0.414 ng / mL ). DHEA - S was within the normal range ( 1.88 µg / mL ). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass",
"The testosterone level was normal ( 3.51 ng / mL ), but 17α - hydroxyprogesterone ( 17 - OHP ) was markedly elevated to 30,000 ng / dL, strongly supporting the diagnosis of a simple virilizing form of CAH",
"compound heterozygote for CYP21 mutations : Ile173Asn ( I173N ) and Arg357Trp ( R357W ) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Cardiovascular-System
|
CVS
|
[
"nor hypertension"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Endocrinology
|
ENDO
|
[
"neither diabetes mellitus",
"precocious puberty",
"Acanthosis nigricans was present in both axillae,",
"central obesity",
"rather ambiguous buffalo hump; however, moon face or red stria was not present",
"4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT",
"Twenty - four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements ( 226.4 µg/24 hr; 122.1 µg/24 hr ). Plasma cortisol was within the normal range ( 7.4 µg / dL ), however, ACTH level was very high ( 676.5 pg / mL ). Urine 17 - OHCS and 17 - ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated ( 0.414 ng / mL ). DHEA - S was within the normal range ( 1.88 µg / mL ).",
"high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass",
"24 - hr urine cortisol was markedly suppressed, not only by high - dose dexamethasone but also by low - dose dexamethasone",
"short stature, precocious pubarche and marked suppression of 24 - hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH",
"The testosterone level was normal ( 3.51 ng / mL ), but 17α - hydroxyprogesterone ( 17 - OHP ) was markedly elevated to 30,000 ng / dL,",
"After 6 months of treatment with dexamethasone ( 0.25 mg daily ), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size",
"17 - OHP and ACTH levels were normalized to 118 ng / dL and 20.8 pg / mL"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Genitourinary-System
|
GU
|
[
"dark urine",
"impotence,",
"Serum BUN level was 9.7 mg / dL, and serum creatinine level was 0.82 mg / dL. Serum electrolytes were normal.",
"impotence was improved"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Respiratory-System
|
RESP
|
[
"community - acquired pneumonia"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Musculoskeletal-System
|
MSK
|
[] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Dermatology
|
DERM
|
[
"hirsutism",
"Acanthosis nigricans was present in both axillae",
"erythematous, scaly, guttate papules on the lower abdominal skin",
"rather ambiguous buffalo hump; however, moon face or red stria was not present"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Pregnancy
|
Pregnancy
|
[] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Lymphatic-System
|
LYMPH
|
[] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"41 - yr - old"
] |
3492685
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community-acquired pneumonia and carpal tunnel syndrome, but neither diabetes mellitus nor hypertension. He complained of impotence, and his mother described precocious puberty and hirsutism beginning at the age of 7. He was not married and had no children. His vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105/min, and a respiratory rate of 18/min. His height was 152.5 cm (< 3th percentile) and body weight was 72.5 kg. The body mass index was 32.5. Acanthosis nigricans was present in both axillae, and there was central obesity with erythematous, scaly, guttate papules on the lower abdominal skin. He also had a rather ambiguous buffalo hump; however, moon face or red stria was not present ( Fig. 1 ). Total and direct bilirubin levels were elevated at 11.6 mg/dL and 8.6 mg/dL, respectively. The AST and ALT levels were 224 and 1,044 U/L, respectively. Serum BUN level was 9.7 mg/dL, and serum creatinine level was 0.82 mg/dL. Serum electrolytes were normal. Based on a positive anti-HAV IgM titer, he was diagnosed with acute hepatitis A. During the evaluation to exclude other causes of liver dysfunction, a 4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal CT ( Fig. 2A, B ). We evaluated the endocrine function ( Table 1 ). Twenty-four hour urine catecholamines and VMA were within the normal range. However, hypercortisoluria was noted in 2 independent measurements (226.4 µg/24 hr; 122.1 µg/24 hr). Plasma cortisol was within the normal range (7.4 µg/dL), however, ACTH level was very high (676.5 pg/mL). Urine 17-OHCS and 17-ketosteroid levels were markedly elevated to 123.0 mg/24 hr and 54.6 mg/24 hr, respectively. Serum aldosterone level was marginally elevated (0.414 ng/mL). DHEA-S was within the normal range (1.88 µg/mL). Based on the high serum ACTH level, hypercortisoluria, and bilateral adrenal hyperplasia with a large left adrenal mass, we suspected a pituitary corticotrophic adenoma with marked asymmetric adrenal hyperplasia. To confirm the diagnosis of Cushing's syndrome, low- and high-dose dexamethasone suppression tests were performed. Then, 24-hr urine cortisol was markedly suppressed, not only by high-dose dexamethasone but also by low-dose dexamethasone ( Table 2 ); this result essentially eliminates the diagnosis of Cushing's syndrome ( 7, 8 ). We thus suspected CAH based on the short stature, precocious pubarche and marked suppression of 24-hr urine cortisol by dexamethasone suggesting hyperresponsiveness of the adrenal cortex to ACTH. The testosterone level was normal (3.51 ng/mL), but 17α-hydroxyprogesterone (17-OHP) was markedly elevated to 30,000 ng/dL, strongly supporting the diagnosis of a simple virilizing form of CAH. Gene analysis revealed CAH due to 21-hydroxylase deficiency by a compound heterozygote for CYP21 mutations: Ile173Asn (I173N) and Arg357Trp (R357W) ( Fig. 3 ), confirming the diagnosis of a simple virilizing from of CAH due to mutations in CYP21 . We began administration of adrenal steroids. After 6 months of treatment with dexamethasone (0.25 mg daily), bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig. 2C, D ). 17-OHP and ACTH levels were normalized to 118 ng/dL and 20.8 pg/mL, respectively, and impotence was improved.", 'Mutation analysis': "Genomic DNA was extracted from the peripheral blood leukocytes of patient by using the Wizard Genomic DNA Purification Kit according to the manufacturer's instructions (Promega, Madison, WI, USA). All exons of the CYP21 gene were amplified by PCR on a thermal cycler (Applied Biosystems, Foster City, CA, USA). Direct sequencing was performed using the BigDye Terminator Cycle Sequencing Ready Reaction kit and an ABI Prism 3130 Genetic Analyzer (Applied Biosystems). The sequences were analyzed using the Sequencer program (Gene Codes Corp., Ann Arbor, MI, USA) and were compared to the reference sequences. The numbering of nucleotide positions was done according to the CYP21 DNA sequence, and the Gen-Bank accession number was NM000500.", 'Biochemical assays': 'Blood samples were obtained in the morning after an overnight fast and a 30-min resting period in the supine position. Hormones were assayed using IRMA kits. For low- or high-dose dexamethasone suppression test, 0.5 or 2 mg dexamethasone was administered 4 times a day for 2 consecutive days.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age of 7"
] |
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