Progressive idiopathic cholestasis presenting with profuse watery diarrhoea and recurrent infections (Byler's disease)

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Abstract
The second child of healthy unrelated parents presented with chronic diarrhoea since the age of two months, initially associated with non-characteristic liver involvement. Recurrent infections, severe failure to thrive and various metabolic deficiencies complicated the further course, as well as profuse watery diarrhoea with elevated regulatory gut peptides, responding only to somatostatin analog treatment. At 22 months of age, intermittent cholestasis with permanently normal serum gamma-glutamyltransferase was evident. The child died of fulminant purulent meningitis at the age of three years six months. Liver histology showed intrahepatic cholestasis, bile duct paucity with focal proliferation as well as slight portal and intralobular fibrosis. The clinical, biochemical and histopathological findings were indicative of Byler's disease.