PMC9201487_01
(A) Family pedigree of a Sudanese family with PCH10. (B) Brain MRI of patient 1 showing mild pontine and cerebellar atrophy and thin corpus callosum (B1) and periventricular white matter changes (red arrows in B2). (C) Segregation of CLP1 (c.419G>A; p.Arg140His) pathogenic variant in the family with pontocerebellar hypoplasia 10.
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F1
Brain MRI showed mild pontine and cerebellar atrophy, thin corpus callosum, and periventricular white matter changes (Figure 1).