儿童1型神经纤维瘤病伴Arnold Chiari 1型畸形

Q4 Medicine Annals of Child Neurology Pub Date : 2023-06-09 DOI:10.26815/acn.2023.00087

Hae Young Ro, S. Yoon, Woo Ri Jang, Y. Kwon

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引用次数: 0

摘要

神经皮肤疾病主要影响中枢和外周神经系统以及皮肤，并最终导致这些器官中肿瘤的发展。1型神经纤维瘤病（NF1）是最常见的神经皮肤综合征之一，据报道其发病率约为2600至3000人中的1人[1]。它是一种常染色体显性遗传病，由位于chromosome 17q11.2的NF1肿瘤抑制基因的致病性变体引起

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Neurofibromatosis Type 1 with Arnold Chiari Type 1 Malformation in A Child

Neurocutaneous disorders primarily affect the central and peripheral nervous systems, as well as the skin, and can ultimately lead to the development of tumors in these organs. Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous syndromes, with a reported incidence of approximately 1 in 2,600 to 1 in 3,000 individuals [1]. It is an autosomal dominant genetic disorder caused by pathogenic variants of the NF1 tumor suppressor gene located on chro-mosome 17q11.2

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