Biotin-thiamine-responsive basal ganglia disease: A case report

Abstract

Biotin-Thiamine-Responsive Basal Ganglia Disease is an extremely rare autosomal recessive neurometabolic disorder characterized by recurrent waxing and waning episodes of subacute encephalopathy and seizures. High dose biotin and thiamine administration has been shown to improve symptoms within days, and the symptoms may reappear rapidly if supplementation is discontinued. Here we present a case of a 20-year-old male with classical clinical and imaging findings of Biotin-Thiamine-Responsive Basal Ganglia Disease, with a 12-year delay in diagnosis, finally diagnosed after presenting at our institution based on imaging and subsequent reexamination of exome sequencing. In this report, we review the classic imaging findings in this disease and examine why making the diagnosis can be extremely challenging due to its wide differential. Both clinically and radiographically, this condition demonstrates significant overlap with a vast array of disease entities, ranging from viral or autoimmune encephalitis to metabolic disorders. Finally, we discuss the various negative prognostic predictors described in the literature, several of which were observed in this patient's clinical course.

Keywords: Basal ganglia; Biotin-thiamine-responsive basal ganglia disease; Neurometabolic disorder; Seizure disorder; Thiamine transporter-2 gene.

Fig. 1

Axial magnetic resonance images of the brain during acute encephalopathic phase. (A) FLAIR sequence images demonstrate symmetric signal hyperintensity of the caudate, putamen, and medial thalami bilaterally, along with asymmetric scattered cortical hyperintensities. (B) FLAIR sequence at level of midbrain demonstrates increased signal of the periaqueductal gray matter. (C) Diffusion-weighted images show symmetric restricted diffusion in the bilateral basal ganglia corresponding to areas of increased FLAIR signal. (D) Post-contrast images demonstrate heterogenous enhancement of bilateral caudate and putamen.

Fig. 2

Axial magnetic resonance images of the brain near end of hospital course. (A) Compared to Figure 1A, there is decreased FLAIR hyperintensity involving bilateral ganglia. (B) Diffusion-weight images demonstrates mild residual restricted diffusion in the bilateral basal ganglia, decreased compared to prior exam.