Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

被引：0

作者：

Rony Cohen

Ayelet Halevy

Sharon Aharoni

Dror Kraus

Osnat Konen

Lina Basel-Vanagaite

Hadassa Goldberg–Stern

Rachel Straussberg

机构：

[1] Schneider Children’s Medical Center of Israel,Department of Pediatric Neurology and Epilepsy Center

[2] Schneider Children’s Medical Center of Israel,Department of Radiology

[3] Schneider Children’s Medical Center of Israel,Pediatric Genetic Service

[4] Sackler School of Medicine,undefined

[5] Tel Aviv University,undefined

[6] Raphael Recanati Genetics Institute,undefined

[7] Rabin Medical Center - Beilinson Hospital,undefined

来源：

neurogenetics | 2016年 / 17卷

关键词：

Polymicrogyria; Myoclonic epilepsy; Autosomal recessive cutis laxa type 2A;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis). One of the patients has myoclonic epilepsy which may have contributed to his more severe clinical presentation. The literature on cutis laxa syndromes is reviewed.

引用

页码：251 / 257

页数：6

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