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J Pediatr Genet 2021; 10(03): 205-212
DOI: 10.1055/s-0040-1714717
Original Article

Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India

Vykuntaraju K. Gowda 
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
,
Balamurugan Nagarajan
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, Bangalore, Karnataka, India
,
Sanjay K. Shivappa
3   Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
,
Naveen Benakappa
3   Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
› Author Affiliations Funding None.
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Abstract

Background Childhood ataxia with central nervous system hypomyelination (CACH) is a recently described childhood inherited white matter disease, caused by mutations in any of the five genes encoding eukaryotic translation initiation factor (eIF2B).

Methods Retrospective review of the charts of children with CACH was performed from January 2014 to March 2020 at tertiary care center from Southern India. Diagnosis was based on magnetic resonance imaging (MRI) criteria or genetic testing.

Results Total number of children with CACH enrolled were 18. Male/female ratio was 10:8. Mean age of presentation was 37.11 months (range =  6–144 months). Affected siblings were seen in five (28%) cases. All children had spasticity, ataxia, and diffuse white matter changes with similar signal as cerebrospinal fluid on all pulse sequences on MRI brain. Of the 18 children, only nine are alive. Duration of illness among deceased children was 9.6667 months (range = 2–16 months). Waxing and waning of symptoms were seen in seven cases. Genetic analysis of EIF2B gene was performed in five cases, among which three mutations were novel.

Conclusion A diagnosis of childhood ataxia with central nervous system hypomyelination should be considered in patients presenting with acute onset neuroregression following infection or trauma with associated neuroimaging showing classical white matter findings.

Keywords

EIF2B - childhood ataxia with central hypomyelination - vanishing white matter disease

Authors' Contributions

V.K.G. involved in supervision, guidance, and review of the manuscript. V.M.S. and B.N. were dedicated in the management of the child and the preparation of manuscript. M.B. supported in diagnosis and preparation of the manuscript. S.K.S. contributed in the diagnosis and management of the child. N.B. has given valuable inputs in the management of this child.




Publication History

Received: 10 May 2020

Accepted: 28 June 2020

Article published online:
27 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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