Open AccessRare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss
Author(s) -
Vykuntaraju K Gowda,
Sukanya Vignesh,
Balamurugan Nagarajan,
Varunvenkat M. Srinivasan,
Manojna Battina,
Maya Bhat,
Rita Christopher
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1721678
Subject(s) - biotinidase deficiency , leukoencephalopathy , medicine , demyelinating disorder , hypotonia , encephalopathy , pediatrics , ataxia , neuroimaging , magnetic resonance imaging , pathology , radiology , psychiatry , disease , newborn screening
Biotinidase 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.