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先证者(Ⅳ_1):男,10岁,因颈椎半脱位收住院,2年前曾行颈部神经纤维瘤切除术。体检:全身皮肤有散在大小不一、形状不规则的牛奶咖啡样斑,尤以颈部皮肤居多,成片状,可扪及硬性皮下结节,胸式呼吸减弱,X 线片示颈推半脱位,MRI示 C_2～C_5椎管内有瘤体占位,脊髓受压变扁向前移位。入院后行探查术,术中见肿瘤位于硬膜下,1粒3 cm×2 cm×2 cm,1粒黄豆大,共2枚,质较软,呈淡红色,皮下组织为肿瘤广泛浸润。术后病理报告为神经纤维瘤。家系调查4代33人中有4人发病,均为典型神经纤维瘤患者。讨论:神经纤维瘤为一种发生在皮肤及皮下组织的良性肿瘤,但可侵入深层组织。本例先证者(Ⅳ_1)肿瘤位于皮下及椎管硬膜下。该病为常染色体
Probate (IV_1): Male, 10 years old, was hospitalized for subluxation of the cervical spine, and 2 years ago had a neck neurofibroma resection. Physical examination: whole body skin scattered in different sizes, irregular shape of milk coffee-like spot, especially in the majority of the neck skin, into a sheet, palpable and hard subcutaneous nodules, thoracic respiratory weakness, X-ray showed half neck Dislocation, MRI showed C_2 ~ C_5 spinal tumor space, spinal cord compression flat shift forward. Surgical exploration after admission, the surgery see the tumor located in the subdural, a 3 cm × 2 cm × 2 cm, a large soybean, a total of 2, the quality of soft, pale red, subcutaneous tissue extensive tumor invasion. Postoperative pathology report for neurofibroma. Family survey 4 generation 33 people in 4 cases, are typical of patients with neurofibromatosis. Discussion: Neurofibroma is a benign tumor that occurs in the skin and subcutaneous tissue, but can invade deeper tissues. The case of proband (Ⅳ_1) tumors located subcutaneously and subdurally. The disease is autosomal