Biotin–Thiamine Responsive Basal Ganglia Disease: A Treatable Metabolic Encephalopathy—Not to Be Missed!

Abstract

Biotin–thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder, characterized by encephalopathy, extrapyramidal signs following mild infection, trauma or surgery and is potentially reversible with treatment. We describe a 15-month-old female child of Indian-Muslim origin with characteristic clinical and radiological features of BTBGD that showed complete resolution with treatment. A comparison with previously reported cases reveals a different mutation (exon 2 vs. exon 5 in middle east cases) in the SLC19A3 gene that could be specific for the Indian subcontinent. We also emphasize the importance of a trial of vitamins in patients with acute metabolic encephalopathy.

Keywords

biotin–thiamine responsive basal ganglia disease - SLC19A3 gene - encephalopathy

• References

• 1 Zeng WQ, Al-Yamani E, Acierno Jr JS. , et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005; 77 (01) 16-26
• 2 Kassem H, Wafaie A, Alsuhibani S, Farid T. Biotin-responsive basal ganglia disease: Neuroimaging features before and after treatment. American Journal of Neuroradiology 2014; 35 (10) 1990-1995
• 3 Ozand PT, Gascon GG, Al Essa M. , et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998; 121 (Pt 7): 1267-1279
• 4 Distelmaier F, Huppke P, Pieperhoff P. , et al. Biotin-responsive basal ganglia disease: a treatable differential diagnosis of leigh syndrome. JIMD Rep 2014; 13: 53-57
• 5 Tabarki B, Al-Hashem A, Alfadhel M. Biotin-Thiamine-Responsive Basal Ganglia Disease. GeneReviews. 1993.®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available at: https://www.ncbi.nlm.nih.gov/books/NBK169615/
• 6 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
• 7 Dabbagh O, Brismar J, Gascon GG, Ozand PT. The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia. Brain Dev 1994; 16 (Suppl): 72-80
• 8 Kono S, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H. Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. N Engl J Med 2009; –1794; 360 (17) 1792-1794
• 9 Kevelam SH, Bugiani M, Salomons GS. , et al. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain 2013; 136 (Pt 5): 1534-1543
• 10 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
• 11 Gerards M, Kamps R, van Oevelen J. , et al. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain 2013; 136 (Pt 3): 882-890
• 12 Gowda VK, Srinivasan VM, Bhat M, Benakappa N. Biotin thiamin responsive basal ganglia disease in siblings. Indian J Pediatr 2018; 85 (02) 155-157
• 13 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
• 14 Muthusamy K, Ekbote AV, Thomas MM. , et al. Biotin thiamine responsive basal ganglia disease-a potentially treatable inborn error of metabolism. Neurol India 2016; 64 (06) 1328-1331
• 15 Bindu PS, Noone ML, Nalini A, Muthane UB, Kovoor JME. Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. J Child Neurol 2009; 24 (06) 750-752
• 16 Fassone E, Wedatilake Y, DeVile CJ, Chong WK, Carr LJ, Rahman S. Treatable Leigh-like encephalopathy presenting in adolescence. BMJ Case Rep 2013; 2013: 200838
• 17 Perez-Duenas, B, Ortigoza, JD, Rebollo, M, et al. Dramatic improvement of encephalopathy with thiamine is consistent with the diagnosis of SLC19A3 defects. Journal of Inherited Metabolic Disease 2013;36(2 suppl. 1), S258–S259
• 18 Yamada K, Miura K, Hara K. , et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet 2010; 11: 171 . Doi: 10.1186/1471-2350-11-171
• 19 Tabarki B, Al-Shafi S, Al-Shahwan S. , et al. Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology 2013; 80 (03) 261-267
• 20 Bubshait DK, Rashid A, Al-Owain MA, Sulaiman RA. Depression in adult patients with biotin responsive basal ganglia disease. Drug Discov Ther 2016; 10 (04) 223-225
• 21 El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease: case report and review of the literature. Neuropediatrics 2008; 39 (05) 268-271
• 22 Aljabri MF, Kamal NM, Arif M, AlQaedi AM, Santali EY. A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: is extended genetic family study recommended?. Medicine (Baltimore) 2016; 95 (40) e4819
• 23 Ygberg S, Naess K, Eriksson M. , et al. Biotin and thiamine responsive basal ganglia disease--a vital differential diagnosis in infants with severe encephalopathy. Eur J Paediatr Neurol 2016; 20 (03) 457-461
• 24 Tabarki B, Alfadhel M, AlShahwan S, Hundallah K, AlShafi S, AlHashem A. Treatment of biotin-responsive basal ganglia disease: open comparative study between the combination of biotin plus thiamine versus thiamine alone. Eur J Paediatr Neurol 2015; 19 (05) 547-552
• 25 Tonduti D, Invernizzi F, Panteghini C. , et al. SLC19A3 related disorder: treatment implication and clinical outcome of 2 new patients. Eur J Paediatr Neurol 2018; 22 (02) 332-335
• 26 Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M. , et al; Thiamine Deficiency Study Group. Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors. Ann Neurol 2017; 82 (03) 317-330