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Neuropediatrics 2023; 54(02): 153-156
DOI: 10.1055/s-0042-1760367
Short Communication

The Coexistence of Two Genetic Astrocytopathies—Megalencephalic Leukoencephalopathy and Vanishing White Matter Disease—in an Indian Child

Suman Das
1   Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
,
Biman Kanti Ray
1   Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
,
Uddalak Chakraborty
1   Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
,
Jayakrishna Tippabathani
2   Department of Research and Development, LifeCell Laboratories, Chennai, Tamil Nadu, India
,
Arindam Santra
1   Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
› Author Affiliations Funding None.
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Abstract

A 9-month-old male child, born of second-degree consanguinity, presented with a progressively enlarging head since early infancy. The child had normal early development, but further acquisition of milestones after 6 months was delayed. He had afebrile seizures at 9 months, followed by the appearance of appendicular spasticity. First magnetic resonance imaging (MRI) showed nonenhancing, diffuse, bilaterally symmetrical T1/fluid-attenuated inversion recovery (FLAIR) hypointensity and T2 hyperintensity of the cerebral white matter and anterior temporal cysts. Subsequently, the periventricular and deep white matter developed microcystic changes with a pattern of radial stripes. Next-generation sequencing revealed homozygous autosomal recessive variations in the MLC1 gene [c.188T > G, (p.Leu63Arg)] on exon 3 and also in the EIF2B3 gene [c.674G > A, (p.Arg225Gln)] on exon 7, the parents being heterozygous carriers for both variations. This article highlights the rare occurrence of two leukodystrophies of diverse pathogenesis in a child from a nonpredisposed community.

Keywords

leukodystrophies - MLC1 - EIF2B - coexistence - MRI

Supplementary Material



Publication History

Received: 11 July 2022

Accepted: 28 October 2022

Article published online:
06 March 2023

© 2023. Thieme. All rights reserved.

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