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EnglishBACKGROUND: 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
| Titolo: | Severe presentation and complex brain malformations in an individual carrying a CCND2 variant | |
| Autori: | ||
| Data di pubblicazione: | 2019 | |
| Rivista: | ||
| Abstract: | 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 | |
| Handle: | http://hdl.handle.net/11588/757973 | |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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