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[结节性硬化症与儿童癫痫——以多哥的4例病例为例]

[Bourneville's tuberous sclerosis and childhood epilepsy Apropos of 4 cases in Togo].

作者信息

Pitché P, Agbèrè A D, Gbadoé A J, Tatagan A, Tchangaï-Walla K

机构信息

Service de dermato-vénéréologie, CHU-Tokoin, Lomé, Togo.

出版信息

Bull Soc Pathol Exot. 1998;91(3):235-7.

PMID:9773199
Abstract

The authors report four cases of childhood epilepsy symptomatic of tuberous sclerosis. Epilepsy appeared in the forefront of the epileptic scene: in two cases, the features of epilepsy were haut mal and in two cases, WEST'S syndrome. Epileptic seizures began precociously for all children. Mental retardation was identified in three cases with one case of autistic behaviour. Diagnosis was possible given skin lesions, family investigations, and X-ray of the skull. Brain scanners were not carried out on any of the children. Whilst recognizing the scarcity of BOURNEVILLE'S tuberous sclerosis, the authors point out the need for interdisciplinary collaboration in the diagnosis of rare but not exceptional hereditary affections.

摘要

作者报告了4例结节性硬化症所致儿童症状性癫痫。癫痫在癫痫病症中最为突出:2例为癫痫大发作,2例为韦斯特综合征。所有儿童癫痫发作均早发。3例有智力发育迟缓,1例有自闭症行为。根据皮肤损害、家族调查及头颅X线检查得以确诊。所有儿童均未进行脑部扫描。作者认识到布尔内维尔结节性硬化症病例稀少,但指出在诊断罕见但并非异常的遗传性疾病时需要多学科协作。

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