Teaching NeuroImage: IBA57 Mutation-Associated Infantile Cavitating Leukoencephalopathy

A 14-month-old child, born of nonconsanguineous parentage, with normal early development till 1 year of age, presented with psychomotor regression. Examination revealed developmental age of 3 months and bipyramidal signs. Brain MRI (Figures 1 and 2) showed periventricular cavitating leukoencephalopathy (PCL). Clinical exome sequencing showed compound heterozygous, disease-associated missense variant in the IBA57 gene.

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