儿童1型神经纤维瘤病4例分析

C. Mammad, N. Mekaoui, F. Z. Ouadghiri, K. Mammad, B. Dakhama
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引用次数: 1

摘要

1型神经纤维瘤病(NF-1或Von Recklinghausen病)是一种常染色体显性遗传病,其临床表现具有极端的可变性,也可在同一家族中发现。我们的工作重点是利用在拉巴特儿童医院进行儿科神经病学会诊的4例NF-1患者。他们是两个婴儿和两个孩子。另外,在两名男孩存在咖啡焦斑和透镜斑的情况下进行诊断,在两名女孩存在咖啡焦斑和脑成像异常的情况下进行诊断。因此,进化的标志是三名患者的有利结果和一名患者的神经系统后遗症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Neurofibromatosis Type 1 in Four Children Cases
Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal dominant genetic disease, characterized by an extreme variability of its clinical expression which is also found in the same family. Our work focuses on the exploitation of four cases of patients with NF-1 who were enrolled in the paediatric neurology consultation at Rabat Children’s Hospital. They are two infants and two children. Otherwise the diagnosis was made in front of the existence of cafe au lait and lentiginous spots in two boys, also the existence of cafe au lait spots and abnormalities in brain imaging in two girls. Thus an evolution was marked by a favorable outcome for three patients and neurological sequelae in one patient.
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