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

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.

Byler-like familial cholestasis in an extended kindred.

“…However, ductular paucity (with focal ductular proliferation) was present in a child aged 3.5 with the typical disease. 8 There is considerable disagreement about the typical pattern of bile acid excretion in PFIC.' 2 517 However, there is no evidence to implicate an inborn error of bile acid synthesis as a cause of this disease.…”

Lichenification and Enlargement of Hands and Feet: A Sign of Progressive Familial Intrahepatic Cholestasis With Normal γ‐Glutamyl‐Transpeptidase

“…In 1965, Clayton et al (1) first described the disorder in a large Amish kindred, the members of whom all descended from Jacob Byler, hence the name Byler disease. Subsequent reports have described similar conditions in non‐Amish children (2–6).…”

Listeria Meningitis in Children: Report of Two Cases

“…Intrahepatic cholestasis, however, is not reported to be a predisposing factor for listeriosis. A case of a patient suffering from Byler disease with recurrent infections and bacterial purulent meningitis (but not Listeria) has been reported [12].As listeriosis may be associated with cirrhosis in adults [13,14], perhaps all children with chronic liver disease leading to liver failure ought to receive ampicillin as empirical therapy for bacterial meningitis. Despite the rarity of Listeria infections in children, physicians should always consider L. monocytogenes as a possible etiologic agent of meningitis or sepsis in pediatric patients, regardless of their age or immunological status.…”