Hereditary recurrent intrahepatic cholestasis from birth.

Obstructive jaundice in the first months of life is a fairly frequent phenomenon. Approximately twothirds of these infants have atresia of the hepatic ducts, and about two-thirds of the remaining can be classified as 'neonatal hepatitis', 'giant cell hepatitis', or 'thick bile syndrome' (Craig and Landing, 1952; de Toni and Romano, 1962; Gellis, 1961). 'Thick bile syndrome' is defined as 'neonatal hepatitis syndrome' plus obstructive jaundice secondary to erythroblastosis fetalis (de Toni and Romano, 1962). These poorly defined syndromes have been studied extensively in the past 15 years, after the report in 1952 on the pathology of 'neonatal hepatitis' by Craig and Landing, who drew attention to the frequency of multinuclear giant cells in the liver in this syndrome. The confusion as to the entity of 'neonatal hepatitis' and its aetiology is well demonstrated by the responses from different authorities (Brent, 1962). Earlier authors presumed a viral aetiology (Craig and Landing, 1952; Friis-Hansen, 1956; Gellis, 1961; Laplane et al., 1964, and others), homologous serum hepatitis virus, transmitted to the fetus transplacentally, being held responsible. The frequent finding of sibs with the disease was thought by Aterman (1963) and others to imply a lifelong viraemia in the mothers. Hartmann (1964) found a moderately increased serum bilirubin in the mother of three children with this syndrome, and thought that this pointed to a latent serum hepatitis in the mother. Hsia et al. (1958) and Danks and Bodian (1963) analysed their material on 'neonatal hepatitis' from a genetic viewpoint, concluding that the frequency of affected sibs is not far from the supposed frequency, if the disease were caused by a recessive autosomal gene in homozygous form. Cassady, Morrison, and Cohen (1964) and Boon (1965) examined several sibs with the disease, and also favoured a genetic aetiology.