一名47 XXY男性的艾卡迪综合征——一种可变的发育表型？

Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?

作者信息

Shetty Jayakara, Fraser Jenny, Goudie David, Kirkpatrick Martin

机构信息

Tayside Children's Hospital, NHS Tayside, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.

出版信息

Eur J Paediatr Neurol. 2014 Jul;18(4):529-31. doi: 10.1016/j.ejpn.2014.03.004. Epub 2014 Mar 12.

DOI:10.1016/j.ejpn.2014.03.004

PMID:24657013

Abstract

BACKGROUND

Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal in males, is postulated, but the gene has not yet been isolated. There are three case reports of 47 XXY males with classic features of AS who all had severe developmental disability.

CASE REPORT

We report a case of a 3.5-year old 47 XXY male with the classic triad of Aicardi syndrome but with good seizure control and mild learning disability.

摘要

背景

艾卡迪综合征（AS）是一种罕见的神经发育障碍，其特征为胼胝体发育不全、脉络膜视网膜缺损和婴儿痉挛三联征。大多数AS患者还患有难治性癫痫、中度至重度学习障碍，预期寿命缩短。推测其由新发突变导致X连锁显性遗传模式，对男性致死，但该基因尚未分离出来。有3例47 XXY男性患者的病例报告，他们具有AS的典型特征，均有严重发育障碍。