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.

Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-Responsive Basal Ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene

“…BTBGD represents a remarkably rare genetic condition, the diagnosis of which is complicated by its nonspeci c clinical manifestations. These typically include seizures and encephalopathy, compounded by a broad spectrum of imaging differentials, including cortical T2hyperintensities and bilateral involvement of the basal ganglia [22]. It has also been established that the prognosis of BTBGD is signi cantly compromised by the delayed administration of biotin and thiamine, underscoring the necessity for timely intervention [6,23].…”

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants

“…We thus strongly recommend considering molecular screening of this Arab founder variant in all individuals of Arab ancestry presenting with acute encephalopathy. Further cases with about 41 different pathogenic variants from other ethnicities have been reported in the literature, including Canadian, Indian, Mexican, and Western European origin, making it a pan-ethnic disorder [ 8 ]. The fact that 90% of the identified BTBGD cases in Kuwait are due to the Saudi founder variant provides a great opportunity for prevention through premarital screening.…”

“…The correlation between early infantile presentation and c.175T > C; p.(Trp59Arg) variant cannot be assessed on a single case basis and further reported cases are needed. Six of our cases developed residual neurological deficient mainly due to late diagnosis and/or non-compliance to the management of biotin and thiamine (Additional files 1 and 2 : Table S1) [ 8 ].…”

“…Symptoms typically resolve within few days of administering high doses of biotin and thiamine and may reappear within one month of supplementation discontinuity [ 2 , 8 ]. We report twenty-one genetically-confirmed BTBGD cases in Kuwait and describe their clinical and radiological findings, along with residual neurological deficits in few individuals with late diagnosis, emphasizing the importance of early diagnosis and timely treatment with high doses of biotin and thiamine.…”