Two Siblings with Different Presentation of Melas
نویسندگان
چکیده
منابع مشابه
Langerhans-cell histiocytosis (LCH) a presentation of two siblings with two different entities
Langerhans cell histiocytosis (LCH) as a term encompasses eosinophilic granuloma and two clinical syndromes: Letterer-Siwe disease and Hand-Schüller-Christian. All these syndromes seem to represent similar processes in which the proliferating cells have the structural and functional features of Langerhans cells. In reviewing the literature found that this disease does indeed occur in some famil...
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چکیده ندارد.
15 صفحه اولDifferent clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
Mitochondrial acetoacetyl-CoA thiolase (T2) catalyzes 2-methylacetoacetyl-CoA cleavage into acetyl-CoA and propionyl-CoA in isoleucine catabolism and interconversion between acetyl-CoA and acetoacetyl-CoA in ketone body metabolism. T2 deficiency is a rare metabolic disease of autosomal recessive inheritance. The disorder is characterized by intermittent ketoacidotic episodes. The onset of clini...
متن کاملMELAS SYNDROME IN TWO IRANIAN CHILDREN
MELAS syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. Diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or C.S.F. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in ...
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Intestinal malrotation is an uncommon cause of abdominal pain and normally presents during infancy. Familial cases of malrotation are extremely rare in the absence of other congenital malformations. We present the case of a 22-year-old woman with undiagnosed chronic abdominal pain and her previously well 16-year-old brother who presented within 18 months of each other with acute midgut volvulu...
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ژورنال
عنوان ژورنال: Bangladesh Journal of Medicine
سال: 2019
ISSN: 2408-8366,1023-1986
DOI: 10.3329/bjmed.v30i2.41537