Santos F, Temudo T
Servicio de Pediatría, Hospital Geral Santo António, Porto, Portugal.
Rev Neurol. 2000;31(11):1039-42.
X-linked hydrocephalus (HLX) is a form of hydrocephalus with recessive transmission linked to the X chromosome, and a recurrence rate of 50% in male foetuses. It is the commonest genetic form of congenital hydrocephalus, with an incidence of 1/30,000 male births. It is characterized by dilation of the lateral ventricles and mental retardation, usually severe. Other common characteristics are abducted thumbs and spastic paraplegia (or quadriplegia).
A baby whose family and clinical history, neuroimaging and genetic studies lead to the diagnosis of HLX.
Identification of the mutation L1CAM in this family will permit identification of the carriers and make it possible to give genetic counselling and prenatal diagnosis.
X连锁脑积水（HLX）是一种与X染色体连锁的隐性遗传形式的脑积水，男性胎儿的复发率为50%。它是先天性脑积水最常见的遗传形式，男性发病率为1/30000。其特征为侧脑室扩张和智力迟钝，通常较为严重。其他常见特征包括拇指外展和痉挛性截瘫（或四肢瘫）。
一名婴儿，通过其家族史、临床病史、神经影像学和基因研究确诊为HLX。
在该家族中鉴定出L1CAM突变将有助于识别携带者，并进行遗传咨询和产前诊断。
