Congenital hepatic fibrosis with an unusual pulmonary lesion

Abstract

SYNOPSISThe necropsy findings in a 5-year-old girl with congenital hepatic fibrosis are described. She had been followed since the age of 18 months and finally developed hepatocellular failure. Extensive haemorrhagic necrosis was found at necropsy and was probably related to the terminal illness. Other unusual findings were areas of typical post-necrotic cirrhosis and marked centrilobular and diffuse emphysema of the lungs. It is suggested that the latter was also congenital in origin.A distinct form of hepatic fibrosis often occurring together with congenital cystic disease of the kidneys was first described by MacMahon in 1929 The early history of this child has already been described in detail (case 1, Kerr et al., 1961). To summarize, she was the product of a normal pregnancy and delivery and had apparently developed normally until the age of 16 months. At that time abdominal distention was noted, and subsequent investigations in hospital revealed gross hepato-splenomegaly with normal liver function tests apart from a raised serum alkaline phosphatase level

Congenital Hepatic Fibrosis: A Study of a Saudi Family and Review

“…Both of these features were present in all our three patients. Less common associated malformations have been described and include duplication of the intrahepatic portal vein branches [11], cystic dysplasia of the pancreas [9], pulmonary emphysema [12], aneurysm of renal and cerebral arteries and cleft palate [9]. More recently, adult-type autosomal dominant polycystic kidney disease has been described in association with CHF [1,6], as is the case in our patients.…”

Latent chronic cholangitis in congenital hepatic fibrosis

“…However, the 5-year-old child reported by Williams et al [14] presented with features that might, retrospectively, be interpreted as clinically latent cholangitis; hypergammaglobulinemia, inflammatory infiltrates and even a small regenerative nodule were present in both children.…”

Congenital hepatic fibrosis in Jamaican children.

“…The lungs were congested. In view of the reported emphysema in a case of congenital hepatic fibrosis (Williams, Scheuer, and Heard, 1964) and of the right ventricular hypertrophy, one lung was inflated with formalin and sections were taken of the whole lung after embedding in gelatin. There was no evidence of primary lung disease.…”