Brain, Vol 121, Issue 7 1267-1279, Copyright © 1998 by Oxford University Press
PT Ozand, GG Gascon, M Al Essa, S Joshi, E Al Jishi, S Bakheet, J Al Watban, MZ Al-Kawi and O Dabbagh
We describe a novel, biotin-responsive basal ganglia disease in 10
patients. At onset, it appears as a subacute encephalopathy, with
confusion, dysarthria and dysphagia with occasional supranuclear facial
nerve palsy or external ophthalmoplegia, and progresses to severe cogwheel
rigidity, dystonia and quadriparesis. These symptoms disappear within a few
days if biotin (5-10 mg/kg/day) is administered, and there are no
neurological sequelae. They reappear within 1 month if biotin is
discontinued. Patients diagnosed late, or who have had repeated episodes,
suffer from residual symptoms such as paraparesis, mild mental retardation
or dystonia. The numerous biochemical studies of intermediary metabolism,
like the autoimmune and toxicological studies, enzyme assays including
biotinidase, carboxylase and lysosomal activities, and bacterial and viral
studies were all normal. The aetiology may be related to a defect in the
transporter of biotin across the blood-brain barrier. The only consistent
radiological abnormality was central necrosis of the head of the caudate
bilaterally and complete, or partial, involvement of the putamen on brain
MRI. This was present during the initial acute encephalopathy and remained
unchanged during follow-up of 3-10 years. Although its aetiology is
unknown, it is important to recognize this disease, since its symptoms may
be reversed and the progression of its clinical course prevented simply by
providing biotin.
ARTICLES
Biotin-responsive basal ganglia disease: a novel entity
Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. ozand@kfshr.edu.sa
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