{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T05:45:43Z","timestamp":1678167943841},"reference-count":14,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2009&gt;\u2009G, (p.Leu63Arg)] on exon 3 and also in the EIF2B3 gene [c.674G\u2009&gt;\u2009A, (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.<\/jats:p>","DOI":"10.1055\/s-0042-1760367","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T23:38:18Z","timestamp":1678145898000},"page":"153-156","source":"Crossref","is-referenced-by-count":0,"title":["The Coexistence of Two Genetic Astrocytopathies\u2014Megalencephalic Leukoencephalopathy and Vanishing White Matter Disease\u2014in an Indian Child"],"prefix":"10.1055","volume":"54","author":[{"given":"Suman","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biman Kanti","family":"Ray","sequence":"additional","affiliation":[{"name":"Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uddalak","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayakrishna","family":"Tippabathani","sequence":"additional","affiliation":[{"name":"Department of Research and Development, LifeCell Laboratories, Chennai, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arindam","family":"Santra","sequence":"additional","affiliation":[{"name":"Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"332","DOI":"10.4103\/0972-2327.179975","article-title":"The spectrum of 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