A classic case of benign recurrent intrahepatic cholestasis (Summer-skill-Walshe-Tygstrup Syndrome)

Background: The benign recurrent intrahepatic cholestasis is an autosomal r ecessively inherited liver disease. The gene was mapped to a region on chro mosome 18q21-22. Because of its rareness this disease is first considered i n the differential diagnosis of cholestasis after many years of extensive i nvestigations. Case Report: We report about a 17-year-old patient, who suff ered from intermittent attacks of cholestatic jaundice and pruritus. Clinic al course, laboratory data and invasive investigations led to the diagnosis of a typical case of benign recurrent intrahepatic cholestasis (Summerskil l-Walshe-Tygstrup syndrome). Conclusion: This disease is remarkable for a discrepancy between arise of s erum bile acids at the onset of each attack and a later rise of bilirubin. Typically high bilirubin levels are noted, and bilirubin can even reach mor e than 50 mg/dl. The serum alkaline phosphatase is increased, too, whereas the values for the transaminases and gamma GT are normal or only slightly e levated. Histological studies reveal a cholestasis, bile plugs in the bile canaliculi, a perilobular fibrosis and inflammatory infiltrations of the pe riportal zones. Differential diagnosis includes an abundance of diseases wi th cholestasis. Treatment is difficult, purely symptomatic and often withou t marked effect. Nevertheless prognosis is good, histories of about 50 year s were without evidence of progression to cirrhosis.