背景:VACTERL关联的临床表现包括椎体异常,肛门闭锁,先天性心脏病,气管食管瘘,肾发育不良,和肢体异常。肝内异常和VACTERL综合征的关联是一个罕见的巧合。VACTER综合征和肝内胆汁引流异常可能与遗传有关。
方法:一名12岁女孩出现阵发性绞痛腹痛,恶心,呕吐了几年。个别发作在几天内自发解决。她有VACTERL综合征病史,包括L3椎骨的蝴蝶形状,肛门闭锁,和房间隔缺损.
方法:关于实验室发现,肝功能异常检查包括总胆红素升高,丙氨酸氨基转移酶,天冬氨酸转氨酶,和γ-谷氨酰转移酶。肝胆系统超声检查除轻度胆囊壁增厚外,无明显异常。我们进行了磁共振胰胆管造影术,并证实了异常的肝内胆管汇合,这表明3胆管直接排入胆囊的颈部。
方法:她的症状与胆囊收缩期间胆汁反流有关。由于胆汁引流段交织在一起,因此进行了胆囊切除术和胆总管空肠吻合术。
结果:手术后,她的症状减轻了,但由于未纠正的左肝内异常,腹部不适仍然存在。
结论:尽管肝胆异常未包括在VACTERL关联诊断标准中,当VACTERL协会患者出现胃肠道症状时,需要进行详细的肝胆检查.
BACKGROUND: The clinical manifestations of VACTERL association include vertebral anomalies, anal atresia, congenital heart diseases, tracheoesophageal fistula, renal dysplasia, and limb abnormalities. The association of intrahepatic anomalies and VACTERL syndrome is a rare coincidence. VACTER syndrome and intrahepatic bile drainage anomalies might be genetically related.
METHODS: A 12-year-old girl presented with episodic colicky abdominal pain, nausea, and vomiting for several years. The individual episodes resolved spontaneously within a few days. She had a history of VACTERL syndrome, including a butterfly shape of the L3 vertebra, anal atresia, and an atrial septal defect.
METHODS: On laboratory findings, abnormal liver function tests included elevated total bilirubin, alanine aminotransferase, aspartate aminotransferase, and gamma-glutamyltransferase. There was no significant abnormal finding in hepatobiliary system sonography except mild gallbladder wall thickening. We performed magnetic resonance cholangiopancreatography and demonstrated an abnormal intrahepatic bile duct confluence, which showed 3 bile ducts draining directly into the neck of the gallbladder.
METHODS: Her symptoms related to bile reflux during gallbladder contraction. Cholecystectomy with choledochojejunostomy was undertaken because segments of the bile drainage were intertwined.
RESULTS: After surgery, her symptoms decreased, but abdominal discomfort remained due to uncorrected left intrahepatic anomalies.
CONCLUSIONS: Although hepatobiliary anomalies are not included in VACTERL association diagnostic criteria, detailed hepatobiliary work up is needed when gastrointestinal symptoms are present in VACTERL association patients.