Summerskill Syndrome

Intermittent cholestasis with spontaneous resolution.

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

Often autosomal recessive (caused by mutations in a gene designated ATP8B1 on 18q21). Autosomal dominant forms exist. The disease is perhaps allelic with Byler Disease (Intrahepatic Cholestasis Syndrome).

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.

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 glutamic-pyruvic transaminase (SGPT), and albumin. Anesthesia drugs requiring hepatic metabolism should be avoided.

Byler Disease (Progressive Familial Intrahepatic Cholestasis Syndrome (PFIC); Fatal Intrahepatic Cholestasis Syndrome): Characterized by a variety of intrahepatic cholestasis that lead to death in the first decade of life. It is has been reported in the Old Order Amish. The clinical features include an early onset of loose, foul-smelling stools, post-infection “attacks” of jaundice, hepatosplenomegaly, dwarfism, and death between the first year and 8 years of age.