Abstract
Background
Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is an extremely rare, inherited autosomal recessive neurometabolic disorder associated with episodes of sub-acute encephalopathy and seizures. It occurs due to impaired transport of thiamine across the blood-brain barrier and is considered as a treatable condition, if biotin and thiamine supplementation is initiated early. BTRBGD classically presents in childhood, but very rarely can also present as infantile form and adult Wernicke-like encephalopathy. The infantile form, referred to as infantile leigh-like syndrome, is considered the most severe presentation with high mortality rates despite vitamin supplementation.
Case presentation
: A 3-month-old child presented with irritability and infantile spasms was found to have a pathogenic variant in SLC19A3 gene and diagnosed with infantile BTRBGD. MRI brain showed symmetrical T2 hyper-intensities in the bilateral cerebellar hemispheres, thalami, and the basal ganglia. MR spectroscopy revealed an elevated inverted doublet lactate peak, with video EEG was suggestive of multifocal epileptiform abnormality. Patient was diagnosed with infantile BTRBGD through exome sequencing and was started on high-dose biotin and thiamine supplementation, resulting in resolution of the symptoms.
Conclusion
Neurologists and radiologists need to be aware of and consider suspicion of the disease entity in encephalopathic infants having the characteristic MRI pattern showing bilateral hyper-intensities in the basal ganglia along with elevated lactate, and consider initiating them on empirical high-dose biotin and thiamine supplementation even before acquiring results of the genetic testing as early initiation of treatment can slow the progression of the disease and have a positive impact on patient outcomes.