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[一种伴有症状性高钠血症的家族性脑畸形综合征]

[A familial brain malformation syndrome with symptomatic hypernatremia].

作者信息

Franek A, Böcker H, Kahlen T

出版信息

Klin Padiatr. 1986 Sep-Oct;198(5):425-8. doi: 10.1055/s-2008-1033901.

Abstract

A familial cerebral malformation combined with chronic hypernatremia is reported. We found three children of a Moroccan family with microcephaly and hypoplasia of the frontal brain. The frontal parts of the lateral ventricles were absent. Two of the children had a defect of the midline structures with fusion of the lateral ventricles similar to holoprosencephaly. Further clinical symptoms were generalized spasticity, delay of mental development and hypodipsia.

摘要

报告了一种伴有慢性高钠血症的家族性脑畸形。我们发现一个摩洛哥家庭的三个孩子患有小头畸形和额叶发育不全。侧脑室的额叶部分缺失。其中两个孩子存在中线结构缺陷,侧脑室融合,类似于前脑无裂畸形。进一步的临床症状包括全身性痉挛、智力发育迟缓及饮水过少。

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