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J Pediatr Genet 2022; 11(02): 087-090
DOI: 10.1055/s-0040-1721678
Original Article

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

Vykuntaraju K. Gowda
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Sukanya Vignesh
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Balamurugan Nagarajan
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Varunvenkat M. Srinivasan
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Manojna Battina
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Maya Bhat
2   Department of Neuroradiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Rita Christopher
3   Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
› Author Affiliations Funding None.
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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.




Publication History

Received: 12 July 2020

Accepted: 03 November 2020

Article published online:
18 December 2020

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