Farina Renato, Garofalo Alfredo, Valerio Foti Pietro, Inì Corrado, Motta Claudia, Galioto Sebastiano, Clemenza Mariangela, Ilardi Adriana, Gavazzi Livio, Grippaldi Daniele, D'Urso Mattia, Basile Antonio
Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia". University of Catania, Italy.
Radiol Case Rep. 2024 Jul 12;19(9):4082-4086. doi: 10.1016/j.radcr.2024.06.031. eCollection 2024 Sep.
Alagille syndrome is an autosomal dominant and multisystemic disease that generally manifests itself with intrahepatic bile ducts paucity, chronic cholestasis, xanthomas and with other less frequent clinical manifestations such as congenital heart disease, skeletal abnomalies, ophthalmic, vascular, renal and growth failure. Symptoms can be subclinical or very severe. Is caused by various genetic mutations and the majority of patients have a detectable mutation in JAG1 (90%), the remainder have mutations in NOTCH2. The diagnosis is molecular and the incidence is approximately 1 in 30,000 - 50.000. Patient management can be very complex and treatment depends on the district affected and on the symptoms. In more serious cases, with terminal liver disease, liver transplantation is used. We describe a case with main bile duct hypoplasia, intrahepatic bile ducts paucity, cholestasis and gallbladder dimorphism associated with renal malrotation and butterfly vertebrae.
阿拉吉耶综合征是一种常染色体显性多系统疾病，通常表现为肝内胆管稀少、慢性胆汁淤积、黄色瘤，以及其他不太常见的临床表现，如先天性心脏病、骨骼异常、眼科、血管、肾脏和生长发育迟缓。症状可能是亚临床的，也可能非常严重。它由多种基因突变引起，大多数患者在JAG1基因中存在可检测到的突变（90%），其余患者在NOTCH2基因中存在突变。诊断依靠分子检测，发病率约为1/30000 - 1/50000。患者的管理可能非常复杂，治疗取决于受影响的部位和症状。在更严重的终末期肝病病例中，会采用肝移植。我们描述了一例伴有主胆管发育不全、肝内胆管稀少、胆汁淤积和胆囊二态性，并伴有肾脏旋转不良和蝴蝶椎的病例。
