Abstract
BackgroundBiotin-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.MethodA retrospective chart review of 18 patients with BBGD from two tertiary institutions describing their clinical, magnetic resonance imaging and molecular findings was conducted.ResultEighteen children from 13 families seen over a period of nine years (2003–2012) were included. (Age range: 14month to 23 years, M: F: 1:1). The clinical features included sub acute encephalopathy, ataxia (n= 18), seizures (n= 13) dystonia (n=12) ,dysarthria (n= 9), quadriparesis and hyperreflexia (n=9). Magnetic resonance imaging demonstrated abnormal signal intensity with swelling in the basal ganglia during acute crises (n= 13/13) and atrophy of the basal ganglia and necrosis during follow up (n= 13/13). One-third of the present patients showed the recurrence of acute crises while on biotin therapy alone, but after the addition of thiamine, crises did not recur. All of the patients have a homozygous missense mutation in exon 5 of the SLC19A3 gene. The frequency of acute crises, delay in diagnosis and initiation of treatment significantly influenced the outcome. On follow up, four patients died, two had spastic quadriplegia, six had normal outcome and the rest had speech and motor dysfunctions. ConclusionClinicians should suspect BBGD in any child presenting with sub acute encephalopathy, abnormal movement and MRI findings as described above. Both biotin and thiamine are essential for disease management. Since biotin alone could not prevent the recurrence of crises in some patients, a more appropriate term to describe the disease would be biotin-thiamine-responsive basal ganglia disease (BTBGD).
Highlights
Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder
Clinicians should suspect BBGD in any child presenting with sub acute encephalopathy, abnormal movement and Magnetic Resonance Imaging (MRI) findings as described above
Since biotin alone could not prevent the recurrence of crises in some patients, a more appropriate term to describe the disease would be biotin-thiamine-responsive basal ganglia disease (BTBGD)
Summary
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. Biotin-responsive basal ganglia disease (BBGD), known as thiamine metabolism dysfunction syndrome-2 (THMD2) (MIM: 607483), is an autosomal recessive inherited neurometabolic disorder. The disease is characterized by sub acute encephalopathy with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia that progresses to severe cogwheel rigidity, dystonia and quadriparesis with a vague history of febrile illness [1]. Neuroradiological findings include bilateral abnormal signal intensity in the basal ganglia with swelling during acute crises [1,3,4,5,6], in the central part of the caudate heads and in part or all of the putamen [1]. Abnormal signal intensity in the thalami [6], globi pallidi [3], white [1], and brain and cerebellar atrophy [6] are observed
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