Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation

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• 作者：Yu Kobayashi^a ; ^{u-kb@masa.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Shinichi Magara^a ; Kenichi Okazaki^a ; Takao Komatsubara^a ; Hirotomo Saitsu^b ; Naomichi Matsumoto^b ; Mitsuhiro Kato^c ; Jun Tohyama^a ; ^d
• 关键词：Megalencephaly ; Polymicrogyria ; Subcortical heterotopia ; Ribbon-like heterotopia ; Cortical malformation
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：38
• 期：10
• 页码：950-953
• 全文大小：548 K

文摘

Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. The heterotopias exhibited inhomogeneous signals with undulatory mixtures of gray and white matter, resembling ribbon-like heterotopia, with a predominance in the temporal to occipital regions. These neuroradiological findings were not consistent with those in known megalencephalic polymicrogyria syndromes. No genetic abnormality was identified through whole-exome sequencing. The neuroimaging findings of this patient may represent a novel cortical malformation involving megalencephaly with polymicrogyria and ribbon-like band heterotopia.