Subscribe to RSS
DOI: 10.1055/s-0040-1716346
Biotin–Thiamine Responsive Basal Ganglia Disease Presented as Intractable Seizure in a 1-Month-Old Infant
Abstract
Biotin–thiamine responsive basal ganglia disease is a neurometabolic disorder, seen in children presenting with encephalopathy, seizures, and positive family history. The disease is diagnosed based on typical magnetic resonance imaging (MRI) findings and whole exome sequencing but may be initially misdiagnosed as a mitochondrial encephalopathy or an inborn error of metabolism (IEM). We describe the case of an infant who presented with uncontrolled seizures and encephalopathy, responding to high doses of thiamine and biotin. Life-long supplementation of biotin (2–10 mg/kg/day) and thiamine (200–300 mg/day) improves the symptomatology and prevents relapse. Outcomes of the disease are heterogeneous, ranging in scope from complete remission to severe neurological sequelae.
Publication History
Received: 30 May 2020
Accepted: 28 July 2020
Article published online:
04 September 2020
© 2020. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
References
- 1 Ozand PT, Gascon GG, Al Essa M. et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998; 121 (Pt 7): 1267-1279
- 2 Savasta S, Bassanese F, Buschini C. et al. Biotin – thiamine responsive encephalopathy: report of an Egyptian family with a novel SLC19A3 mutation and review of literature. J Pediatr Genet 2019; 8 (02) 100-108
- 3 Debs R, Depienne C, Rastetter A. et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 2010; 67 (01) 126-130
- 4 Tabariki B, Al-Hashem A, Alfadhel M. Biotin-thiamine-responsive basal ganglia disease. In: Adam MP, Ardinger HH, Pagon RA. et al, eds. Gene Reviews. Seattle, WA: University of Washington, Seattle; 1993. –2018
- 5 Whitford W, Hawkins I, Glamuzina E. et al. Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. Cold Spring Harb Mol Case Stud 2017; 3 (06) a001909
- 6 Savasta S, Comi GP, Perini MP. et al. Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency. J Child Neurol 2001; 16 (08) 608-613
- 7 Alfadhel M, Almuntashri M, Jadah RH. et al. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis 2013; 8: 83
- 8 Pérez-Dueñas B, Serrano M, Rebollo M. et al. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics 2013; 131 (05) e1670-e1675
- 9 Ortigoza-Escobar JD, Serrano M, Molero M. et al. Thiamine transporter-2 deficiency: outcome and treatment monitoring. Orphanet J Rare Dis 2014; 9: 92