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[朱伯特综合征。1例新病例报告及文献复习(作者译)]

[Joubert syndrome. Report of a new case and review of literature (author's transl)].

作者信息

Aparicio Meix J M, Pascual Castroviejo I

出版信息

An Esp Pediatr. 1980 Jul;13(7):625-32.

PMID:7416655
Abstract

A two-month old male with episodic hyperpnea, facial hemispasms, abnormal eye movements and mental retardation is presented. Pneumoencephalography and C.T. showed an occipital encephalocele and partial defects of the cerebellar vermis. The case agrees with the few cases reported like Joubert syndrom" At present he is three years old. Episodic hyperpnea and facial hemispasms have disappeared but his motor and mental development is obviously retarded.

摘要

本文报告了一名两个月大的男性患儿,其症状包括发作性呼吸急促、面部抽搐、异常眼动及智力发育迟缓。气脑造影和CT显示存在枕部脑膨出及小脑蚓部部分缺损。该病例与少数已报道的如Joubert综合征的病例相符。目前他三岁,发作性呼吸急促和面部抽搐已消失,但运动和智力发育仍明显迟缓。

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