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

Abstract

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.

Keywords

leukoencephalopathy - demyelination - biotinidase - neurometabolic disorders

Authors' Contributions

V.K. was involved in the supervision, guidance, and review of the manuscript. S.S. given valuable inputs in the management of this child. B.N. was involved in the management of the child and the preparation of the manuscript. M.B. has helped in diagnosis and the preparation of the manuscript. R.C. has helped in diagnosis and the preparation of the manuscript.

Ethical Approval

Ethical approval was obtained from Institute Ethical Committee, Indira Gandhi Institute of Child Health, Bengaluru.

Publikationsverlauf

Eingereicht: 12. Juli 2020

Angenommen: 03. November 2020

Artikel online veröffentlicht:
18. Dezember 2020

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