Alagille综合征合并肝细胞癌1例报告并文献复习

Alagille syndrome in a child combined with hepatocellular carcinoma: a case report and literature review

目的探讨儿童Alagille综合征合并肝细胞癌的临床表现、影像学检查、治疗及预后。方法分析1例Alagille综合征合并肝细胞癌患儿的临床表现、辅助检查、诊断,并复习相关文献。结果患儿,女,6岁,因反复皮肤黄染入院,曾有心脏手术史。入院后查体有特殊面容(前额突出、眼眶深陷、尖下颌、鼻前端肥大)。血生化提示存在肝内胆汁淤积,甲胎蛋白升高;影像学腹部B超示肝内弥漫性多发实性占位,肝脏磁共振提示肝大,肝脏多发占位。Jagged 1基因检测为c.1205delC,杂合型。结论儿童期Alagllie综合征合并肝细胞癌极为罕见,早期诊断和长期随访对治疗及预后具有积极意义。

Objective To explore the clinical manifestation,imaging examination,treatment and prognosis of Alagillesyndrome in a child combined with hepatocellular carcinoma.Method The clinical manifestation,assistant examination anddiagnosis of Alagille syndrome combined with hepatocellular carcinoma were analyzed in the child,and the pertinent literaturewere reviewed.Results The6-year-old girl was admitted to hospital for repeated jaundice,and had a history of cardiacsurgery.After admission,the patient was found to have a typical face look such as frontal bossing,sunken eyes,pointed chinand hypertrophy of nasal tip.Blood biochemistry showed intrahepatic cholestasis and increased alpha-fetoprotein.Abdominalultrasonography revealed diffuse multiple solid lesions in the liver.And magnetic resonance imaging of the liver indicated thatthe liver was enlarged and multiple solid space occupying masses.Jagged1gene detection showed heterozygosis mutation ofc.1205delC.Conclusion Alagllie syndrome complicated with hepatocellular carcinoma in childhood is extremely rare,andearly diagnosis and long-term follow-up are of positive significance for its treatment and prognosis.