Alagille's syndrome: a family case and its association with hepatocellular carcinoma

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...

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Published inRevista clínica espanõla Vol. 188; no. 9; p. 459
Main Authors Pérez Becerra, E, Fuster, M, Fraga, M, Antúnez, J, Pintos, E, Pavón, P, Forteza, J
Format Journal Article
LanguageSpanish
Published Spain 01.05.1991
Subjects
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adult
Biliary Atresia - diagnosis
Biliary Atresia - genetics
Biliary Atresia - pathology
Carcinoma, Hepatocellular - diagnosis
Carcinoma, Hepatocellular - genetics
Carcinoma, Hepatocellular - pathology
Child
Humans
Liver - pathology
Liver Neoplasms - diagnosis
Liver Neoplasms - genetics
Liver Neoplasms - pathology
Male
Syndrome
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Summary: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.
ISSN:0014-2565