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A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Medicine - 1 Oct 2016

Aljabri Mohammad F, Kamal Naglaa M, Arif Moinuddin, AlQaedi Asrar M, Santali Enas Y M

Abstract excerpt

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index...

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PMID: 27749535
DOI: 10.1097/MD.0000000000004819
PMCID: PMC5059037

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