Gonzalez Gabriel, Russi Maria Eugenia, Lodeiros Amelia
Pediatric Neurology Department, Pereira Rossell Children's Hospital, Montevideo, Uruguay.
Pediatr Neurol. 2007 Jan;36(1):51-3. doi: 10.1016/j.pediatrneurol.2006.07.011.
Bilateral segmental neurofibromatosis is a rare condition characterized by the occurrence of neurofibromas and/or café-au-lait spots limited to an area or segment of the body bilaterally. It is caused by a postzygotic mutation in the neurofibromatosis type I gene, resulting in a phenotype of genetic mosaicism. This report describes a case of bilateral segmental neurofibromatosis with multiple nodules sitting on a café-au-lait spot.
双侧节段性神经纤维瘤病是一种罕见病症，其特征为神经纤维瘤和/或咖啡斑仅限于身体双侧的某个区域或节段出现。它由I型神经纤维瘤病基因的合子后突变引起，导致遗传镶嵌现象的表型。本报告描述了一例双侧节段性神经纤维瘤病病例，在一个咖啡斑上有多个结节。
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