Castañeda C, Fragoso T, Gra B, Guerra L, Castellanos O, Trujillo M E
Sección de Gastroenterología Pediátrica, Instituto Nacional de Gastroenterología, La Habana, Cuba.
G E N. 1992 Oct-Dec;46(4):341-6.
Alagille's syndrome or arteriohepatic dysplasia has been described in Cuba in nine patients between nine months and 12 years of age (8 males and one female). Among the clinical features we found five major abnormalities: chronic cholestasis with neonatal jaundice (9/9), peculiar facies (9/9), peripheral pulmonary artery hypoplasia associated with cardiac murmur (6/9), butter-fly-like arch defects (4/9), and posterior embryotoxon (6/7). Two children had a severe xanthomatosis. Laparoscopy showed green hepatomegaly depending on the degree of cholestasis, and only one patient had incipient signs of micronodular cirrhosis. Liver histology showed a paucity of interlobular bile ducts. Survival was of 60%. One patient survived more than 30 years. Four patients died of liver carcinoma (unique report in infants), broncho-pneumonia, acute renal failure, and sudden death respectively. Among the minor features were mental retardation (5/9), a peculiar voice (3/9), growth retardation observed in some of our patients. This is the first report on Alagille's syndrome in Latin America, because so far reports have come only from Europe and North America.
阿拉吉耶综合征或动脉肝发育不良在古巴已有报道,涉及9名年龄在9个月至12岁之间的患者(8名男性和1名女性)。在临床特征方面,我们发现了5个主要异常:伴有新生儿黄疸的慢性胆汁淤积(9/9)、特殊面容(9/9)、与心脏杂音相关的外周肺动脉发育不全(6/9)、蝶形弓缺损(4/9)以及后胚胎环(6/7)。两名儿童患有严重的黄瘤病。腹腔镜检查显示肝脏肿大呈绿色,取决于胆汁淤积的程度,只有1名患者有早期小结节性肝硬化的迹象。肝脏组织学显示小叶间胆管稀少。存活率为60%。1名患者存活超过30年。4名患者分别死于肝癌(婴儿中的独特报告)、支气管肺炎、急性肾衰竭和猝死。次要特征包括智力发育迟缓(5/9)、特殊嗓音(3/9),我们的一些患者存在生长发育迟缓。这是拉丁美洲关于阿拉吉耶综合征的首次报告,因为迄今为止的报告仅来自欧洲和北美。