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Progressive idiopathic cholestasis presenting with profuse watery diarrhoea and recurrent infections (Byler's
B M Winklhofer-Roob1, D H Shmerling, R Solèr
1Department of Paediatrics, University of Zurich, Switzerland.
Insights
This case study details a child with Byler's disease, a rare genetic disorder causing chronic diarrhea, liver issues, and failure to thrive. Early diagnosis and treatment are crucial for managing this severe condition.
Area of Science:
- Pediatric Gastroenterology
- Hepatology
- Medical Genetics
Background:
- Byler's disease is a rare, inherited cholestatic liver disorder.
- It typically presents in infancy with severe, intractable diarrhea and failure to thrive.
- Associated complications include recurrent infections and metabolic derangements.
Observation:
- A child presented with chronic diarrhea from two months of age, accompanied by non-specific liver involvement.
- The clinical course was complicated by recurrent infections, severe failure to thrive, and metabolic deficiencies.
- Profuse watery diarrhea with elevated gut peptides responded only to somatostatin analog treatment.
Findings:
- Intermittent cholestasis with normal gamma-glutamyltransferase levels was observed.
- Liver histology revealed intrahepatic cholestasis, bile duct paucity, and fibrosis.
- The clinical, biochemical, and histopathological findings were consistent with Byler's disease.
Implications:
- This case highlights the complex presentation of Byler's disease, emphasizing the need for a high index of suspicion.
- Timely diagnosis and management, including somatostatin analog therapy, may be beneficial.
- Understanding the pathophysiology is crucial for developing targeted therapies for this rare genetic liver disorder.
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.