Summerskill Syndrome

At a glance

Intermittent cholestasis with spontaneous resolution.

Synonyms

Benign Recurrent Intrahepatic Cholestasis (BRIC); Summerskill-Walshe-Tygstrup Syndrome.

Incidence

Very rare, fewer than 1/100,000.

Genetic inheritance

Autosomal recessive. Autosomal dominant forms exist.

Pathophysiology

Caused by mutations in a gene designated ATP8B1 on 18q21. The disease is perhaps allelic with Byler Disease (Intrahepatic Cholestasis Syndrome).

Clinical aspects

Patient must have a minimum of two episodes of jaundice separated by intervals of weeks to years without any symptoms or cholestasis. Characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. Initial elevation of serum bile acids is followed by cholestatic jaundice; spontaneous resolution in a few weeks or months. Biliary cirrhosis and intrahepatic cholestasis can occur.

Anesthetic considerations

No specification with other hepatobiliary diseases. Evaluate severity of liver lesion (clinical, echography, CT scan, MRI). Laboratory investigations should include coagulation test with factor V, bilirubin, serum glutamic-oxaloacetic transaminase (SGOT), serum glutamicpyruvic transaminase (SGPT), and albumin. Anesthesia drugs requiring hepatic metabolism should be avoided.

Other condition to be considered

• Byler Disease (☞Progressive Familial Intrahepatic Cholestasis Syndrome; Fatal Intrahepatic Cholestasis Syndrome): Severe familial cholestasis of hepatocellular origin, with normal intra- and extra-hepatic biliary ducts. Characterized by a variety of intrahepatic cholestasis that lead to death in the first decade of life. Reported in the Old Order Amish. The clinical features include an early onset of loose, foul-smelling stools, postinfection “attacks” of jaundice, hepatosplenomegaly, dwarfism, and death between the first year and 8 years of age.

References