pmcid
stringclasses 138
values | text
stringclasses 138
values | context
stringclasses 138
values | role
stringclasses 18
values | role-name
stringclasses 18
values | raw-initial-ground-truth
listlengths 0
18
|
|---|---|---|---|---|---|
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"Funduscopic examination was normal"
] |
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Dermatology
|
DERM
|
[
"ichthyosis",
"had ichthyosis",
"Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen",
"Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis"
] |
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Pregnancy
|
Pregnancy
|
[] |
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Lymphatic-System
|
LYMPH
|
[] |
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"2 - year - old"
] |
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"at birth"
] |
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"the diagnosis of SLS was confirmed ."
] |
4958706
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes of pneumonia also were observed in his first year of life. He had no history of seizure. His physical examination revealed spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sitting without support at 5 and 12 months, respectively. Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen ( Fig. 1 ). Funduscopic examination was normal. Electroencephalography, routine laboratory tests, and chromosomal study were also normal. Magnetic resonance imaging (MRI) demonstrated high-intensity lesions in the deep white matter around the trigons of lateral ventricles ( Fig. 2 ). Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis. Molecular genetics study utilizing sequencing of the polymerase chain reaction product using the exon-specific primers revealed a c.370-372 (GGA) deletion mutation in the second exon of ALDH3A2 gene in a homozygote state. Therefore, the diagnosis of SLS was confirmed. The patient was treated, symptomatically with inhaled corticosteroid, and bronchodilator, local paraffin applicants, and rehabilitation therapy.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia"
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Gastrointestinal-System
|
GI
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Patient-History
|
History
|
[
"Case one was a 30 - year - old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected",
"Case two was a 22 - year - old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years.",
"Case three was a 14 - year - old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation",
"Case four was the 9 - year - old sibling of the 14 - year - old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth.",
"Case five was a 21 - year - old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1 - year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history."
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Neurology
|
Neuro
|
[
"mental retardation"
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin",
"Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia",
"His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests ( ELISA ) were negative",
"Histopathology showed similar features as that of the first case.",
"Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer."
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Cardiovascular-System
|
CVS
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Endocrinology
|
ENDO
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Genitourinary-System
|
GU
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Respiratory-System
|
RESP
|
[
"recurrent upper respiratory tract infections"
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Musculoskeletal-System
|
MSK
|
[
"severe growth retardation"
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Dermatology
|
DERM
|
[
"asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body",
"initial lesions started in the chest and then spread to the entire body in 2 years",
"no history of photosensitivity",
"skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal",
"Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin",
"asymptomatic multiple hypo and hyperpigmented macules all over the body",
"similar lesions all over the body",
"palms and soles also showed similar mottled pigmentation",
"multiple verucca vulgaris over the left arm and dorsum of hands",
"similar lesions all over the body",
"Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth",
"molluscum contagiosum lesions on the face",
"Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate",
"Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body",
"Histopathology showed similar features as that of the first case",
"asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities",
"His palms and soles were normal.",
"Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer"
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Pregnancy
|
Pregnancy
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Lymphatic-System
|
LYMPH
|
[] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"30 - year - old",
"22 - year - old",
"9 - year - old",
"21 - year - old"
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Age-of-Onset
|
Age (of onset)
|
[
"age of 1 - year ."
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"a diagnosis of dyschromatosis universalis hereditaria ( DUH ) was made",
"diagnosis of DUH was made in all the four cases .",
"a diagnosis of dyschromatosis symmetrica hereditaria was made"
] |
4681223
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made. Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body since 12 years. There was no other significant positive clinical findings. Case three was a 14-year-old boy who presented with similar lesions all over the body since the age of 2 years. His palms and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia. Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body since 9 months of age. Similar lesions were seen in his palms and soles also. He had recurrent pyodermas since birth. On examination, he had molluscum contagiosum lesions on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case. Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis. Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern. The features of all these five cases have been summarized in Table 1 .'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Gastrointestinal-System
|
GI
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Patient-History
|
History
|
[
"Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady.",
"Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family."
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Neurology
|
Neuro
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers",
"echocardiogram were normal.",
"The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis",
"normal electrocardiogram and echocardiogram )"
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Cardiovascular-System
|
CVS
|
[
"Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal",
"arterial hypertension",
"Cardiological evaluation did not show changes ( normal electrocardiogram and echocardiogram )"
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Endocrinology
|
ENDO
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Genitourinary-System
|
GU
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Respiratory-System
|
RESP
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Musculoskeletal-System
|
MSK
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"Right ophthalmoscopy, retinography and angiography revealed angioid streaks",
"Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography"
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Dermatology
|
DERM
|
[
"yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas.",
"grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region",
"The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers",
"yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae.",
"coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae",
"The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis,"
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Pregnancy
|
Pregnancy
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Lymphatic-System
|
LYMPH
|
[] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"55 years old"
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Age-of-Onset
|
Age (of onset)
|
[
"The lesions started during infancy"
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"pseudoxanthoma elasticum",
"pseudoxanthoma elasticum"
] |
4155964
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denied familial cases of the same malady. At the dermatological examination grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal region ( Figure 4 ). The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers, confirming the diagnosis of pseudoxanthoma elasticum ( Figure 5 ). Right ophthalmoscopy, retinography and angiography revealed angioid streaks ( Figure 6 ). Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal.', 'Case 1': 'Female patient, 48 years old, white, reported the onset of yellowish asymptomatic micropapules in the cervical region five years ago, which later progressed to the axillae and cubital fossae. In her personal records, a past history of arterial hypertension was noticed. The patient denied similar cases in her family. At the dermatological examination, coalescent yellowish papules forming plaques distributed symmetrically in the cervical region, axillas and cubital fossae ( Figure 1 ) were observed. The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis, compatible with the diagnosis of pseudoxanthoma elasticum ( Figure 2 ). Cardiological evaluation did not show changes (normal electrocardiogram and echocardiogram). Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography ( Figure 3 ).'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Body weight was 8.8 kg ( 3 to 10 percentile ) in patient A, 9.4 kg ( 10 to 25 percentile ) in patient B, body length was 73.7 cm ( 3 to 10 percentile ) in patient A, 75.4 cm ( 10 to 25 percentile ) in patient B at 14 months of age."
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Gastrointestinal-System
|
GI
|
[
"poor oral intake, vomiting, lethargy and dehydration"
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Patient-History
|
History
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Neurology
|
Neuro
|
[
"normal development"
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit ( NICU ). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17 - OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17 - OHP, elevated ACTH ( A, 4,379.2 pg / mL at 23 days of life; B, 11,616.1 pg / mL at 29 days of life ), and high plasma renin activity ( A, 49.02 ng / mL / hr; B, 52.7 ng / mL / hr ). However, the level of plasma cortisol before treatment were normal ( 8.71 µg / dL initially, 7.11 µg / dL in 2nd sample ) in patient A, but low ( 1.5 µg / dL ) in patient B. The results of endocrinologic investigation are shown in Table 1. The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography ( CT ) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level ( 132 to 139 mmol / L ) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia ( 129 to 133 mmo / L )",
"Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C > T ( p. R182C ) in exon 5 and c.722C > T ( p. Q258X ) in exon 7"
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Cardiovascular-System
|
CVS
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Endocrinology
|
ENDO
|
[
"slightly elevated potassium level and low level of sodium",
"The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17 - OHP, elevated ACTH ( A, 4,379.2 pg / mL at 23 days of life; B, 11,616.1 pg / mL at 29 days of life ), and high plasma renin activity ( A, 49.02 ng / mL / hr; B, 52.7 ng / mL / hr ). However, the level of plasma cortisol before treatment were normal ( 8.71 µg / dL initially, 7.11 µg / dL in 2nd sample ) in patient A, but low ( 1.5 µg / dL ) in patient B.",
"The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography ( CT ) performed at 11 months of age in both patients.",
"slightly decreased to normal sodium level ( 132 to 139 mmol / L )",
"hyponatremia ( 129 to 133 mmo / L )",
"adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration",
"retarded physical growth"
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Genitourinary-System
|
GU
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Respiratory-System
|
RESP
|
[
"desaturation and tachypnea."
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Musculoskeletal-System
|
MSK
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Dermatology
|
DERM
|
[
"hyperpigmentation",
"skin hyperpigmentation"
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Pregnancy
|
Pregnancy
|
[
"Phenotypic female twins ( A, B ) were born at 36 + 2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g ( < 10 percentile ) in A and 2,040 g ( 10 to 25 percentile ) in B, height was 43 cm ( 10 to 25 percentile ) in A and 44 cm ( 10 to 25 percentile ) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit ( NICU )"
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Lymphatic-System
|
LYMPH
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"14 months of age ."
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"CLAH"
] |
4027067
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 to 25 percentile) in B. Patient A needed the oxygen supplementation with hood and nasal prong for 3 days due to desaturation and tachypnea. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit (NICU). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17-OHP for congenital adrenal hyperplasia. The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory findings revealed normal 17-OHP, elevated ACTH (A, 4,379.2 pg/mL at 23 days of life; B, 11,616.1 pg/mL at 29 days of life), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng/mL/hr). However, the level of plasma cortisol before treatment were normal (8.71 µg/dL initially, 7.11 µg/dL in 2nd sample) in patient A, but low (1.5 µg/dL) in patient B. The results of endocrinologic investigation are shown in Table 1 . The enlargement adrenal glands in both patients were not remarkable on the abdominal ultrasound soon after birth. Moreover, hyperplasia of the adrenal glands was not observed on abdominal computed tomography (CT) performed at 11 months of age in both patients. Patient A showed slightly decreased to normal sodium level (132 to 139 mmol/L) not to need sodium supplementation during hospitalization and she was discharged from NICU at 22 days of age. Discharge of patient B was delayed for correction of hyponatremia (129 to 133 mmo/L) and further evaluation for skin hyperpigmentation. She was treated with oral supplementation of sodium (0.8 to 0.9 mmol/kg) at 11 to 35 days of age, and she discharged from the hospital with normal sodium level after tapering off sodium supplementation at 37 days of age. Patient A was admitted at 38 days of age with adrenal insufficiency symptoms of poor oral intake, vomiting, lethargy and dehydration. Clinical findings of patient A were suggestive of CLAH and prompted us to order a gene analysis in both twins. Chromosome analysis of both patients revealed normal 46, XX karyotype. The result of gene analysis of StAR revealed a heterozygous condition for c.544C>T (p.R182C) in exon 5 and c.722C>T (p.Q258X) in exon 7 ( Fig. 1 ). Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms, except hyponatremia, but she was also diagnosed with CLAH with the same StAR gene mutation with patient A. The results of gene analysis of parents showed heterozygous for the mutations in the StAR gene; the heterozygous gene mutations; c.772C>T in the mother, and c.544C>T in the father, were documented. They showed suboptimal levels of hormone despite of administration of 20 mg/m 2 /24-hr of hydrocortisone, dose of hydrocortisone was increased up to 30 mg/m 2 /24-hr. Both patients have been under steroid supplementation (fludrocortisones 0.2 mg daily in 2 divided doses, and hydrocortisone 12 mg daily in 3 divided doses) at 14 months of age. They showed normal development except retarded physical growth, and hormones and electrolyte levels on follow up are shown as Table 1 . Body weight was 8.8 kg (3 to 10 percentile) in patient A, 9.4 kg (10 to 25 percentile) in patient B, body length was 73.7 cm (3 to 10 percentile) in patient A, 75.4 cm (10 to 25 percentile) in patient B at 14 months of age. They had been regularly followed.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms , except hyponatremia",
"steroid supplementation ( fludrocortisones 0.2 mg daily in 2 divided doses , and hydrocortisone 12 mg daily in 3 divided doses ) at 14 months of age"
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"Coagulopathy was also detected",
"height was 42 cm ( < 3rd percentile ), her weight was 2.9 kg ( < 3rd percentile ), and her head circumference was 33.5 cm ( < 3rd percentile",
"white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g / dL and a thrombocyte count of 93,000/µL.",
"The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng / mL ( normal values are 14.0 - 647.2 ng / mL ), and the transferrin saturation was 97.2 %",
"coagulopathy",
"her vital signs were unstable",
"Active gastrointestinal bleeding"
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Gastrointestinal-System
|
GI
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Patient-History
|
History
|
[
"A two - month - old female infant was transferred to Seoul National University Children 's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg ( < 3rd percentile ). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient 's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion"
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Neurology
|
Neuro
|
[
"neurological development was delayed",
"brain MRI and chromosomal study produced normal findings."
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"aspartate aminotransferase ( AST ), 176 U / L; alanine aminotransferase ( ALT ), 106 U / L; total bilirubin, 1.76 mg / dL; and direct bilirubin, 1.2 mg / dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non - diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract.",
"When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg / dL and a direct bilirubin level of 9.61 mg / dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum - ascites - albumin gradient level was elevated,",
"The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g / dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg / dL, a direct bilirubin level of 6.4 mg / dL, an AST level of 225 U / L and an ALT level of 114 U / L. The albumin level was 2.4 g / dL, and the ammonia level was increased to 149 µg / dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng / mL ( normal values are 14.0 - 647.2 ng / mL ), and the transferrin saturation was 97.2 %. The serum alpha - fetoprotein level was in the high normal range ( 19,737.27 ng / mL; normal values are 40 - 19,953 ng / mL ). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging ( MRI ) verified a diffuse heterogeneous low signal intensity in the liver on T2 - weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra - hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non - diagnostic findings.",
"The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining.",
"Assessments by brain MRI and chromosomal study produced normal findings. \""
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Cardiovascular-System
|
CVS
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Endocrinology
|
ENDO
|
[
"hypoglycemia"
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Genitourinary-System
|
GU
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Respiratory-System
|
RESP
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Musculoskeletal-System
|
MSK
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Dermatology
|
DERM
|
[
"whole - body jaundice"
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Pregnancy
|
Pregnancy
|
[
"born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg ( < 3rd percentile ). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly."
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Lymphatic-System
|
LYMPH
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"two - month - old"
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Age-of-Onset
|
Age (of onset)
|
[
"birth"
] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[] |
4942314
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth. Initially, hypoglycemia was noted and dextrose fluid was administered. Antenatal sonography findings presented no evidence of fetal hydrops or hepatomegaly. She had no familial medical history of gastrointestinal or hepatobiliary diseases. The patient's older brother was healthy and had experienced no medical problems. Her mother denied having any history of stillbirth or abortion. The initial laboratory findings after birth showed the following increased values on the liver function test: aspartate aminotransferase (AST), 176 U/L; alanine aminotransferase (ALT), 106 U/L; total bilirubin, 1.76 mg/dL; and direct bilirubin, 1.2 mg/dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis, but all results were non-diagnostic. Abdominal sonography was performed to exclude biliary atresia, but there was no specific finding in the hepatobiliary tract. The patient was fed with preterm formula milk without feeding intolerance. No definitive sepsis event occurred during her hospitalization. When the infant was 50 days old, a small amount of ascites was noted, and bilirubin levels had increased to a total serum bilirubin level of 10.89 mg/dL and a direct bilirubin level of 9.61 mg/dL. Coagulopathy was also detected. The amount of ascites increased thereafter, and ascites tapping was performed. The serum-ascites-albumin gradient level was elevated, and portal hypertension was suspected. By the age of 70 days, the infant was transferred to our hospital for further evaluation of persistent ascites suggesting portal hypertension and hyperbilirubinemia. On the day of admission to our unit, the infant's height was 42 cm (<3rd percentile), her weight was 2.9 kg (<3rd percentile), and her head circumference was 33.5 cm (<3rd percentile). A physical examination indicated whole-body jaundice, a markedly distended abdomen with ascites and an umbilical hernia. The initial laboratory examination showed a white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g/dL and a thrombocyte count of 93,000/µL. The liver function laboratory studies showed a total serum bilirubin level of 8.4 mg/dL, a direct bilirubin level of 6.4 mg/dL, an AST level of 225 U/L and an ALT level of 114 U/L. The albumin level was 2.4 g/dL, and the ammonia level was increased to 149 µg/dL. The prothrombin time was 31.2 seconds, and the international normalized ratio was 3.02. The serum ferritin level was elevated to 1,181.38 ng/mL (normal values are 14.0-647.2 ng/mL), and the transferrin saturation was 97.2%. The serum alpha-fetoprotein level was in the high normal range (19,737.27 ng/mL; normal values are 40-19,953 ng/mL). Tyrosine was elevated in the plasma amino acid studies. However, no succinylacetone peak was found in the urine organic acid studies, which excluded the diagnosis of tyrosinemia. Abdominal magnetic resonance imaging (MRI) verified a diffuse heterogeneous low signal intensity in the liver on T2-weighted images, suggesting iron deposition ( Fig. 1 ). An oral mucosal biopsy was performed to detect extra-hepatic siderosis, but adequate submucosal gland tissues could not be obtained. All of the studies performed to evaluate metabolic diseases presented non-diagnostic findings. The infant received supportive medical treatment, including fat-soluble vitamins, ursodeoxycholic acid, fresh frozen plasma, lactulose, diuretics, and sodium benzoate. Her general condition and coagulopathy were aggravated, and her vital signs were unstable. She was transferred to the intensive care unit on day 18 of hospitalization for further management. Her mother began the donor evaluation process. Active gastrointestinal bleeding was observed on day 21 of the infant's hospitalization, and an emergency living donor liver transplantation was performed. The infant was 3 months old, and her weight was 3 kg on the day of transplantation. The graft was tailored by reducing its left lateral section. The pathological findings, which are presented in Fig. 2, revealed diffuse parenchymal iron deposition in the liver with iron staining; these findings were consistent with NH and distinct from mesenchymal iron deposition in cases of excessive iron supply. The studies also revealed diffuse parenchymal collapse and occasional nodular regeneration, sinusoidal collagen accumulation and fibrosis, intracytoplasmic and intracanalicular cholestasis, and a decreased number of bile ducts with hematoxylin and eosin staining. The infant fully recovered from hepatic failure after liver transplantation. The infant was discharged one month after the operation. She exhibited normal renal function after transplantation. She received medical treatment for hyperkalemia, which occurred after the administration of tacrolimus. Following her discharge, the patient's neurological development was delayed, and she entered rehabilitation with outpatient clinic follow-up in the hospital's neurology department. Assessments by brain MRI and chromosomal study produced normal findings."}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Gastrointestinal-System
|
GI
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Patient-History
|
History
|
[
"We report a case of a 40 - year - old man with CAH/21 - hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinomabilateral orchiectomy",
"surgical removal of his right adrenal gland"
] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Neurology
|
Neuro
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Serum hormonal screening showed high 17 - OH progesterone and ACTH",
"Serum tumor markers at 12.09.2013 : AFP 10.56 IU / mL ( AFP 4.03 IU / mL 01.2012 ), hGT beta and CEA – not elevated, semen analyses : azoospermia.",
"Gross findings : right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds ( 0.1–1.5 cm ). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin - α were positive in 50 % of the cells. There were no mitotic figures on HE - staining ( Ki 67 negative ). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated.",
"In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity ( Ki 67 positive in < 1 % of nuclei ). The clear cell component was about 26 %. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis - type cells ( lipid - depleted ). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata - type cells and nodules composed of zona reticularis - type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met"
] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Cardiovascular-System
|
CVS
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Endocrinology
|
ENDO
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Genitourinary-System
|
GU
|
[
"bilateral testicular masses",
"semen analyses : azoospermia",
"frozen sections were interpreted as malignant tumors. Gross findings : right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds ( 0.1–1.5 cm ). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin - α were positive in 50 % of the cells. There were no mitotic figures on HE - staining ( Ki 67 negative ). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated."
] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Respiratory-System
|
RESP
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Musculoskeletal-System
|
MSK
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Dermatology
|
DERM
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Pregnancy
|
Pregnancy
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Lymphatic-System
|
LYMPH
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"40 - year - old"
] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"CAH/21 - hydroxylase deficiency",
"TARTs",
"CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules , pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes"
] |
4672664
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirmed in 2013 by MRI, with retroperitoneal lymphadenomegaly. Serum hormonal screening showed high 17-OH progesterone and ACTH. The patient refused operation. He was referred to us from another hospital because of a synchronous progressive enlargement of bilateral testicular masses during substitutive medical therapy ( Fig. 2 ). Serum tumor markers at 12.09.2013: AFP 10.56 IU/mL (AFP 4.03 IU/mL 01.2012), hGT beta and CEA – not elevated, semen analyses: azoospermia. Considering the possibility of malignant testicular neoplasm, the patient underwent bilateral orchiectomy, because the frozen sections were interpreted as malignant tumors. Gross findings: right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds (0.1–1.5 cm). The microscopic examination showed complete replacement of the normal testicular tissue by sheets and nests of large bizarre mono- and multinucleated cells, large nuclei with prominent nucleoli, abundant eosinophilic cytoplasm with lipochrome pigments ( Fig. 3 ). Nests of cells were separated by fibrous septs. Only the epididymis and a thin band of atrophic testicular parenchyma were preserved. The tumor cells did not express CD 117, PLAP, CK. Melan A and inhibin-α were positive in 50% of the cells. There were no mitotic figures on HE-staining (Ki 67 negative). No vascular invasion and tumor emboli were found. The spermatic cord and tunica vaginalis were not infiltrated. We excluded primary germ cell testicular tumors and anaplastic large cell lymphoma, metastatic nonsecreting pheochromocytoma. “TARTs” was the appropriate diagnosis. There was still suspicion for metastatic adrenocortical carcinoma because of the CT and MRI findings. In order to prove the diagnosis the patient agreed to the surgical removal of his right adrenal gland in 01.2014. Adrenocortical carcinoma was histologically diagnosed again at other hospital. We revised all slides and performed immunohistochemical analyses. In the left adrenal gland we found polygonal cells with mild nuclear pleomorphism, conspicuous nucleoli, abundant eosinophilic granular cytoplasm, some with lipochrome pigments, without mitotic activity (Ki 67 positive in <1% of nuclei). The clear cell component was about 26%. In CAH, marked diffuse hyperplasia of zona fasciculata is a result of ACTH stimulation. There is also a conversion of zona fasciculata cells into zona reticularis-type cells (lipid-depleted). The cells exhibited strong positive expression for vimentin, Melan A and inhibin. In the right adrenal gland microscopically we found fields and circumscribed but nonencapsulated nodules that protruded into the adjacent fat, consisting of fasciculata-type cells and nodules composed of zona reticularis-type cells with lipofuscin. Nuclear and cellular pleomorphism was more prominent than in the left adrenal gland. Mitoses necrosis, hemorrhage, sinusoidal, vascular and capsular invasion were not found. The required number of morphological criteria, according to Weiss and Aubert, to classify the lesion as carcinoma, were not met. 2 Revised diagnosis: CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules, pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes.'}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Prednisolone"
] |
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
4862294
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice. He had recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far (last episode at the age of 4 years). On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.', 'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.'}
|
Gastrointestinal-System
|
GI
|
[] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.