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Biotin-responsive basal ganglia disease: a novel entity
P T Ozand1, G G Gascon, M Al Essa
1Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. ozand@kfshr.edu.sa
Brain : a Journal of Neurology
|July 29, 1998
Summary
A novel biotin-responsive basal ganglia disease presents as encephalopathy and rigidity. Prompt biotin treatment reverses symptoms, preventing neurological damage in this rare neurological disorder.
Area of Science:
- Neurology
- Metabolic Disorders
Background:
- Describes a novel neurological condition affecting the basal ganglia.
- Characterized by subacute encephalopathy, motor deficits, and cognitive impairment.
Observation:
- Ten patients presented with acute symptoms including confusion, dysarthria, dysphagia, and facial/eye movement abnormalities.
- Progressed to severe rigidity, dystonia, and quadriparesis.
- Brain MRI revealed bilateral caudate necrosis and putaminal involvement.
Findings:
- Symptoms rapidly resolved within days upon administration of biotin (5-10 mg/kg/day).
- Neurological sequelae were absent with timely treatment.
- Recurrence of symptoms occurred within a month of biotin discontinuation.
- Late diagnosis or repeated episodes led to residual symptoms like paraparesis and dystonia.
- Extensive biochemical, autoimmune, toxicological, and infectious studies were normal.
- Potential aetiology linked to impaired biotin transport across the blood-brain barrier.
Implications:
- Early recognition and biotin supplementation are crucial for reversing symptoms and preventing permanent neurological damage.
- This condition highlights the critical role of biotin in basal ganglia function.
- Further research into biotin transport mechanisms is warranted.