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