Article
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Orphanet journal of rare diseases - 6 Jun 2013
Alfadhel Majid, Almuntashri Makki, Jadah Raafat H, Bashiri Fahad A, Al Rifai Muhammad Talal, Al Shalaan Hisham, Al Balwi Mohammed, Al Rumayan Ahmed, Eyaid Wafaa, Al-Twaijri Waleed
Abstract excerpt
BACKGROUND: Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. If left untreated with biotin, the disease can progress to severe quadriparesis and even death. METHOD: A retrospective chart review of 18 patients with BBGD from two...
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