Case Report: Biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging

Abstract

Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, treatable autosomal recessive neurometabolic disorder. This condition eventually leads to severe disability and death if not treated correctly. The clinical features of BTBGD, especially those with unusual complications, are not widely known by neurologists or pediatricians. Case presentation: A 4-month-old male infant was admitted to the hospital with a history of cough for the past 7 days and convulsions of 6 h duration. Physical examination showed confusion, bilateral pupillary light reflex delays, hypertonia of limbs, and brisk tendon reflexes of the limbs. Brain magnetic resonance imaging (MRI) showed multiple abnormal signals in the bilateral basal ganglia, lobes, corpus callosum, brainstem, and brain atrophy. However, his condition continued to worsen. Computed tomography performed 3 months later showed severe subdural hematoma and effusion. Subsequently, he underwent puncture drainage; however, his condition did not improve postoperatively. Repeated MRIs showed increasing subdural hematoma and effusion, and brain atrophy. The patient was diagnosed with BTBGD following whole-genome sequencing, which identified a novel compound heterozygous mutation of SLC19A3 gene. He was treated with biotin and thiamine, and the symptoms gradually improved. Subsequent MRIs showed a decrease in the subdural hematoma and effusion and partial improvement in brain atrophy. Conclusion: To the best of our knowledge, this is the first reported case of BTBGD, complicated by severe subdural hematoma. These observations extend our understanding of the clinical features, neuroimaging spectrum, and gene mutation spectrum of BTBGD. The phenotypic spectrum and pathophysiology of BTBGD are not completely understood and need to be studied further.