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

[benign recurrent intrahepatic cholestasis]

The benign recurrent intrahepatic cholestasis is an autosomal recessively inherited liver disease . The gene was mapped to a region on chromosome 18 q 21 -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 .