FOLLOW-UP OF BENIGN RECURRENT INTRAHEPATI C CHOLESTASIS [SUMMERSKILL-WALSHE-TYGSTRUP-SYNDROME] OVER 46 YEARS

Benign recurrent intrahepatic cholestasis (BRIC or Summerskill-Walshe- Tygstrup-syndrome) is a rare autosomal recessive form of liver disease , which usually becomes manifest in childhood. Characteristic are recu rrent episodes of jaundice and itching of different duration. Number a nd duration of episodic attack and asymptomatic period develop individ ually For diagnosis of BRIC following criteria are proposed: At least three episodes of severe jaundice and pruritus with biochemical eviden ce of cholestasis, normal intra-and extrahepatic bile ducts on cholang iography, absence of a factor known to produce intrahepatic cholestasi s and symptom-free intervals of several months or years. Often the dia gnosis of BRIC is made very late and patients have to suffer invasive investigations (explorative laparotomy). Because of the unknown pathop hysiolocal mechanism there is no specific treatment. We report on a 53 -year-old patient with jaundice: severe pruritus, vomiting: loss of ha ir and weight, extreme sleeplessness and intractable cough. At the ons et of the attack an increase of serum bilirubin concentration and seru m alkaline phosphatase was observed, whereas aspartate and alanine ami notransferase and gamma-glutamyltransferase were normal. Histological findings of liver biopsy revealed accumulation of bile plugs in bile c analiculi. The long-term follow-up of our patient confirms that the pr ognosis is good.