منابع مشابه
Biotin responsive limb weakness.
We report acute onset quadriplegia in a ten year old boy associated with basal ganglia lesions due to biotin deficiency. Prolonged raw egg consumption was identified as predisposing factor for biotin deficiency. Treatment with biotin resulted in remarkable recovery.
متن کاملNovel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
BACKGROUND Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous mutations have been reported. This makes the diagnosis uncertain and may delay treatment. METHODS AND RESULTS In two...
متن کاملSteroid-responsive encephalopathy associated with autoimmune thyroiditis.
BACKGROUND Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), often termed Hashimoto encephalopathy, is a poorly understood and often misdiagnosed entity. OBJECTIVE To characterize the clinical, laboratory, and radiologic findings in patients with SREAT to potentially improve recognition of this treatable entity. DESIGN Retrospective analysis of clinical featu...
متن کاملBiotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic a...
متن کاملAlopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
Three siblings with infantile-onset biotin-responsive multiple carboxylase deficiency are described. Recognition of the characteristic dermatologic manifestations, alopecia and periorificial dermatitis, should result in early diagnosis and institution of potentially lifesaving therapy with biotin. Other metabolic disorders may present a similar clinical picture. Immunologic dysfunction and/or a...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1989
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-3-11-7