Yazar O, Topal H, Streukens S
Acta Chir Belg. 2014 Jan-Feb;114(1):84-6.
Von Recklinghausen's disease, an autosomal dominant genetic disorder, may occasionally present with unusual localizations of neurofibromas.
A 46-year old woman, known with Von Recklinghausen's disease, reported a swelling and a feeling of pressure and globus sensation. Clinical examination revealed multiple large nodi on the right side of the neck. Laboratory testing including thyroid-stimulating hormone (TSH) was normal. An MRI showed a 1 x 3 x 10 centimeter sausage-like structure compressing the right jugular vein. At surgical exploration a string-like tumour firmly attached to the right vagal and recurrent laryngeal nerve was found. The tumor and both nerves were macroscopically curative resected. Histopathological examination demonstrated a plexiform cervical vagus nerve neurofibroma without malignancy.
Patients with Von Recklinghausen's disease presenting with painless neck swellings may harbour cranial nerve neurofibromas.
冯雷克林霍增氏病是一种常染色体显性遗传病，偶尔可能出现神经纤维瘤的异常定位。
一名46岁女性，患有冯雷克林霍增氏病，报告有肿胀感、压迫感和咽部异物感。临床检查发现颈部右侧有多个大结节。包括促甲状腺激素（TSH）在内的实验室检查结果正常。磁共振成像（MRI）显示一个1×3×10厘米的香肠样结构压迫右侧颈静脉。手术探查时发现一个条索状肿瘤，牢固地附着于右侧迷走神经和喉返神经。肿瘤及两条神经均进行了肉眼下根治性切除。组织病理学检查显示为无恶性特征的丛状颈迷走神经神经纤维瘤。
患有冯雷克林霍增氏病且有无痛性颈部肿胀的患者可能患有颅神经神经纤维瘤。
