[Follow-up of benign recurrent intrahepatic cholestasis (Summerskill-Walshe-Tygstrup syndrome) over 46 years].

[benign recurrent intrahepatic cholestasis]

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 recurrent episodes of jaundice and itching of different duration . Number and duration of episodic attack and asymptomatic period develop individually . For diagnosis of BRIC following criteria are proposed : At least three episodes of severe jaundice and pruritus with biochemical evidence of cholestasis , normal intra-and extrahepatic bile ducts on cholangiography , absence of a factor known to produce intrahepatic cholestasis and symptom-free intervals of several months or years . Often the diagnosis of BRIC is made very late and patients have to suffer invasive investigations (explorative laparotomy ). Because of the unknown pathophysiological mechanism there is no specific treatment . We report on a 53 -year -old patient with jaundice , severe pruritus , vomiting , loss of hair and weight , extreme sleeplessness and intractable cough . At the onset of the attack an increase of serum bilirubin concentration and serum alkaline phosphatase was observed , whereas aspartate and alanine aminotransferase and gamma-glutamyltransferase were normal . Histological findings of liver biopsy revealed accumulation of bile plugs in bile canaliculi . The long -term follow-up of our patient confirms that the prognosis is good .

Diseases
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Diseases presenting "liver biopsy" symptom

benign recurrent intrahepatic cholestasis

erythropoietic protoporphyria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

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