胆总管神经纤维瘤的诊断与治疗

Diagnosis and treatment of the neurofibroma of the common bile duct

神经纤维瘤病是由神经嵴细胞分化异常引起多系统损害的一种常染色体显性遗传病,可发生在全身大多数脏器,但发生在胆总管极为少见.2007年2月浙江省丽水市中心医院收治1例老年胆总管神经纤维瘤患者.术前MRCP检查示胆总管略扩张,直径为1.2 cm,中段见结节状短T2信号灶,大小为1.4 cm×1.6 cm.术中快速冷冻切片病理检查示胆总管中段胆管细胞癌,遂行胆总管肿瘤切除＋胆管空肠Roux-en-Y吻合术.术后病理检查示胆总管中段神经纤维瘤.术后随访7年,患者于2014年6月因肺部感染死亡.胆总管神经纤维瘤患者临床表现无特异性,若患者有胆道损伤或手术史,发现胆总管占位性病变时应考虑本病.术中应注意快速冷冻切片病理检查的准确性,以免误诊给患者造成不必要的手术创伤.

Neurofibroma is an autosomal dominant genetic disease which is originated from the abnormal differentiation of neural crest cells and would cause system damage.NF can occur at most organs in the body,while it is rarely seen in the common bile duct.In February 2007,1 old patients with NF was admitted to the Lishui Central Hospital of Zhejiang Province.The results of preoperative magnetic resonance cholangiopancreatography （MRCP） revealed that the common bile duct was slightly dilated,and the diameter of the common bile duct was 1.2 cm.A nodular short T2 signal lesion was detected at the middle part of the common bile duct with the size of 1.4 cm × 1.6 cm.The results of intraoperative rapid frozen section pathological examination showed that the lesion was cholangiocarcinoma,then cholangiocarcinoma resection ＋ biliojejunal Roux-en-Y anastomosis was applied to the patient.Postoperative pathological examination confirmed that the lesion was neurofibroma.The patient was followed up for 7 years and died of pulmonary infection in June 2014.The clinical presentation of neurofibroma of the common bile duct is untypical.Space-occupying lesions detected in the patients with history of bile duct injury or operation should be considered to be diagnosed as neurofibroma.Special attention should be paid to the accuracy of the results of rapid frozen section pathological examination in order to avoid missdiagnosis.