[Classic case of benign recurrent intrahepatic cholestasis (Summerskill-Halshe-Tygstrup syndrome)]

The benign recurrent intrahepatic cholestasis is an autosomal recessively inherited liver disease. The gene was mapped to a region on chromosome 18q21-22. Because of its rareness this disease is first considered in the differential diagnosis of cholestasis after many years of extensive investigations.

We report about a 17-year-old patient, who suffered from intermittent attacks of cholestatic jaundice and pruritus. Clinical course, laboratory data and invasive investigations led to the diagnosis of a typical case of benign recurrent intrahepatic cholestasis (Summerskill-Walshe-Tygstrup syndrome).

This disease is remarkable for a discrepancy between a rise of serum 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 more 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 elevated. Histological studies reveal a cholestasis, bile plugs in the bile canaliculi, a perilobular fibrosis and inflammatory infiltrations of the periportal zones. Differential diagnosis includes an abundance of diseases with cholestasis. Treatment is difficult, purely symptomatic and often without marked effect. Nevertheless prognosis is good, histories of about 50 years were without evidence of progression to cirrhosis.