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结节性硬化症:附8例病例研究的文献综述

Tuberous sclerosis complex: a review with a study of eight cases.

作者信息

Malik A S, Hussin Z A, Shriwas S R, Kasim Z M

机构信息

Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan.

出版信息

Med J Malaysia. 1994 Dec;49(4):375-84.

PMID:7674974
Abstract

This paper reviews the subject of tuberous sclerosis complex and presents data in eight cases of this condition, admitted to Hospital Universiti Sains Malaysia over a period of 8.5 years. The average age at presentation was 53 months. Seizures were the most common presenting feature. Male to female ratio was 3:1. Family history was present in four patients. All of the patients had one or more skin lesions. Six of them had retinal in six patients. Two patients had renal angiomyolipomas. A high index of hamartomas. Cardiac tumours were found in two patients. Multiple subependymal hamartomas were detected in six patients. Two patients had renal angiomyolipomas. A high index of suspicion and a detailed physical examination is required to diagnose this rare disorder.

摘要

本文回顾了结节性硬化症这一主题,并呈现了马来西亚理科大学医院在8.5年期间收治的8例该病症患者的数据。就诊时的平均年龄为53个月。癫痫发作是最常见的就诊特征。男女比例为3:1。4例患者有家族病史。所有患者均有一处或多处皮肤损害。6例患者有视网膜病变。2例患者有肾血管平滑肌脂肪瘤。错构瘤指数较高。2例患者发现有心脏肿瘤。6例患者检测到多发室管膜下错构瘤。2例患者有肾血管平滑肌脂肪瘤。诊断这种罕见疾病需要高度的怀疑指数和详细的体格检查。

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