J Pediatr Neurol
DOI: 10.1055/s-0038-1676811
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Tarishi Nemani
1  Department of Pediatric Neurology, Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India
,
Puja Mehta
2  Department of Child Neurology, SRCC Children's Hospital, Managed by Narayana Health, Mumbai, Maharashtra, India
,
Anaita Udwadia-Hegde
1  Department of Pediatric Neurology, Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India
› Institutsangaben
Funding None.
Weitere Informationen

Publikationsverlauf

11. September 2018

10. November 2018

Publikationsdatum:
21. Dezember 2018 (eFirst)

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.