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HEREDITARY RECURRENT CHOLESTASIS WITH LYMPHOEDEMA–TWO NEW FAMILIES
Author(s) -
AAGENÆS Ø.
Publication year - 1974
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1974.tb04832.x
Subject(s) - medicine , cholestasis , pediatrics , etiology , cirrhosis , heredity , norwegian , jaundice , linguistics , philosophy , genetics , biology
. Aagenres, Ø. (Paediatric Department, University Hospital, Oslo, Norway). Hereditary recurrent cholestasis with lymphoedema–two new families. Acta Paediatr Scand, 63: 465, 1974.–Hereditary, neonatal cholestasis with primary lymphoedema at birth or later have earlier heen described in two families of Norwegian origin. This report includes the clinical course and the liver histology in two new cases with this syndrome. The two patients were unrelated and unrelated to the earlier described families. Both had neonatal intrahepatic cholestasis, in one lasting many years, in the other only about 6 months. Lymphwdema was severe in the fvst mentioned and more moderate in the latter. Liver histology showed giant cell transformation in infancy and some fibrosis or cirrhosis in later childhood. In the first family 3 of 6 siblings were similarly affected at birth, and in the other family, the parents were related, supporting earlier theory of an autosomal, recessive heredity as the aetiology of this condition.