Pérez Becerra E, Fuster M, Fraga M, Antúnez J, Pintos E, Pavón P, Forteza J
Departamento de Anatomía Patológica, Facultad de Medicina, Hospital Clínico Universitario, Santiago de Compostela.
Rev Clin Esp. 1991 May;188(9):459-62.
Two cases of Alagille syndrome are reported, father and son. This, a 6-year-old boy, presented with neonatal cholestasis but thereafter evolved with progressively decreasing jaundice and persisting pruritus. A liver biopsy confirmed the absence of intrahepatic bile ducts with preservation of hepatic architecture and no fibrosis. The patient had a characteristic phenotype: short stature, triangular face, deep eyes with hypertelorism, partial embryotoxon and data of peripheral pulmonary artery stenosis. His father died 43-year-old by a hepatocarcinoma. His liver biopsy showed also absence of intrahepatic bile ducts. In addition to the association Alagille's syndrome hepatocarcinoma (previously reported in six cases, three into the same family), it should be stressed in this case the long survival and the fact he had many children: the case with Alagille's syndrome, five children in good health, and one who died shortly after birth.
报道了一对父子患阿拉吉耶综合征的两个病例。这个6岁男孩表现为新生儿胆汁淤积,但此后黄疸逐渐减轻,瘙痒持续存在。肝脏活检证实肝内胆管缺如,肝结构保留且无纤维化。该患者具有典型的表型:身材矮小、三角脸、眼深陷且眼距增宽、部分角膜缘胚胎环以及外周肺动脉狭窄的数据。他的父亲43岁时死于肝癌。其肝脏活检也显示肝内胆管缺如。除了阿拉吉耶综合征与肝癌的关联(此前已报道6例,其中3例在同一家族)外,该病例应强调的是患者存活时间长且子女众多:该患有阿拉吉耶综合征的患者有5个健康子女,1个出生后不久死亡。