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

详细信息    查看全文

• 作者：Rony Cohen ; Ayelet Halevy ; Sharon Aharoni ; Dror Kraus ; Osnat Konen…
• 关键词：Polymicrogyria ; Myoclonic epilepsy ; Autosomal recessive cutis laxa type 2A
• 刊名：neurogenetics
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：17
• 期：4
• 页码：251-257
• 全文大小：823 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Neurosciences
  Human Genetics
  Molecular Medicine
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1364-6753
• 卷排序：17

文摘

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.