Background: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K-AKT pathway. Only a few patients with CCND2 mutations have been reported to date.
Methods: We describe an individual harboring a de novo variant in CCND2 undergoing neuroradiological evaluation including diffusion tensor imaging (DTI).
Results: The individual presented with a severe brain malformation extending to both brainstem and cerebellum with hypomyelination not previously reported in CCND2-related disorder. Severe hypoplasia and white matter disorganization were confirmed by DTI.
Conclusion: This report expands the phenotypic spectrum of the disorder due to CCND2 variants.
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| http://dx.doi.org/10.1002/mgg3.708 | DOI Listing |
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