Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review.
Publication/Presentation Date
4-25-2023
Abstract
Biotin thiamine responsive basal ganglia disease (BTRBGD) is an inherited autosomal recessive disorder that results from the inability of thiamine to cross the blood-brain barrier. It is considered a treatable condition if vitamin supplementation, most commonly with thiamine and biotin, is initiated early. BTRBGD can present as an infantile form, classical childhood form, or adult Wernicke-like encephalopathy. The infantile form is often the most severe and portends a worse prognosis with high mortality despite vitamin supplementation. We present a two-month-old who presented with irritability, opisthotonos, and abnormal eye movements who was found to have compound heterozygous variants in the
Volume
100
Issue
17
First Page
836
Last Page
839
ISSN
1526-632X
Published In/Presented At
Maney, K., Pizoli, C., & Russ, J. B. (2023). Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review. Neurology, 100(17), 836–839. https://doi.org/10.1212/WNL.0000000000206832
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
36657988
Department(s)
Department of Pediatrics
Document Type
Article