Herrero Valverde A, Moiron Simões R, Mera Campillo J, Palma T
Serviço de Neurologia. Hospital Fernando Fonseca. Lisboa.
Neurologia. 2007 Dec;22(10):911-4.
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome due to a mutation in chromosome 17 (at 17q11.2). The association of NF-1 with Arnold-Chiari I malformation has been previously described.
A 23 year-old woman diagnosed of NF-1 based on the presence of cutaneous lesions and a familiar background consistent with this was referred to the neurologist due to oppressive frontooccipital bilateral headache that irradiated to both shoulders. It worsened on physical effort and Valsalva maneuver and had more than one year of evolution. Physical examination showed multiple café au lait spots in the trunk and cutaneous neurofibromas in the cervico-dorsal region, as well as short height and mild dorsal scoliosis. Neurological examination showed hyperreflexia in both legs and slight light touch and pinprick hyposthesia in the left arm. The magnetic resonance findings suggested Arnold - Chiari I malformation with associated cervical syrinx, without any other abnormalities in the central nervous system. She underwent surgery, with partial improvement of the symptoms.
The association between NF-1 and Arnold- Chiari I malformation seems to be more than coincidental. The abnormalities of the embrionary development secondary to NF-1 would be responsible for the posterior fossa hypoplasia found in Arnold-Chiari malformation. Our case focuses on the idea that Arnold- Chiari malformation should be included in the list of abnormalities reported in NF-1.
1型神经纤维瘤病（NF-1）是一种常染色体显性神经皮肤综合征，由17号染色体（17q11.2）突变引起。此前已有NF-1与阿诺德-奇阿里I型畸形相关联的报道。
一名23岁女性，因躯干出现皮肤病变且有家族病史而被诊断为NF-1。因双侧额枕部压迫性头痛放射至双肩，她被转诊至神经科医生处。头痛在体力活动和瓦尔萨尔瓦动作时加重，病程超过一年。体格检查显示躯干有多个咖啡牛奶斑，颈背部有皮肤神经纤维瘤，身高较矮且有轻度背部脊柱侧弯。神经学检查显示双下肢反射亢进，左臂有轻微轻触觉和针刺觉减退。磁共振成像结果提示阿诺德-奇阿里I型畸形合并颈髓空洞症，中枢神经系统无其他异常。她接受了手术，症状部分改善。
NF-1与阿诺德-奇阿里I型畸形之间的关联似乎并非偶然。NF-1继发的胚胎发育异常可能是阿诺德-奇阿里畸形中发现的后颅窝发育不全的原因。我们的病例强调了应将阿诺德-奇阿里畸形列入NF-1报告的异常情况清单中的观点。
