Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

Author:

Gowda Vykuntaraju K.1,Vignesh Sukanya1,Nagarajan Balamurugan1,Srinivasan Varunvenkat M.1,Battina Manojna1,Bhat Maya2,Christopher Rita3

Affiliation:

1. Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India

2. Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India

3. Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India

Abstract

AbstractBiotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging findings but demyelinating leukoencephalopathy is an unusual finding in children with biotinidase deficiency that can cause diagnostic challenge as it can radiologically mimic perinatal hypoxic–ischemic encephalopathy or other leukodystrophies. It reverses with early diagnosis and treatment with biotin supplementation and the outcome is rewarding.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

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