Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
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DOI：
10.1002/mgg3.708
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发表时间：
2019-06-01
影响因子：
2
通讯作者：
Brunetti-Pierri, Nicola
中科院分区：
文献类型：
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作者：
Cappuccio, Gerarda;Ugga, Lorenzo;Brunetti-Pierri, Nicola
背景：MPPH是一种由PI3K-AKT通路基因缺陷引起的发育性脑障碍，其特征为大脑畸形和双侧左右型多小脑回畸形。迄今为止，只有少数CCND2突变患者被报道。方法我们描述了一个患有CCND2新发变异的个体，并进行了包括扩散张量成像（DTI）在内的神经放射学评估。结果该患者表现为严重的脑部畸形，延伸至脑干和小脑，并伴有髓鞘化过低，此前ccnd2相关疾病未见报道。DTI证实严重发育不全和白质紊乱。结论本报告扩大了CCND2变异引起的疾病的表型谱。
BackgroundMegalencephaly-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.MethodsWe describe an individual harboring a de novo variant in CCND2 undergoing neuroradiological evaluation including diffusion tensor imaging (DTI).ResultsThe 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.ConclusionThis report expands the phenotypic spectrum of the disorder due to CCND2 variants.