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Isolation of Neonatal Extrahepatic Cholangiocytes
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Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

Jagadeesh Menon1, Naresh Shanmugam1, Sripriya Srinivas2

  • 1Department of Pediatric Gastroenterology and Hepatology, Dr. Rela Institute & Medical Center, Bharat Institute of Higher Education and Research, Chennai, India.

Journal of Pediatric Genetics
|June 30, 2022
PubMed

Insights

Wolman disease, a rare lysosomal disorder, can cause severe infantile liver cirrhosis. Early diagnosis through imaging and genetic testing is crucial for potential interventions, though outcomes remain poor without effective treatments.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Gastroenterology

Background:

  • Infantile liver cirrhosis has diverse causes, including biliary atresia and metabolic disorders.
  • Wolman disease (WD) is a lysosomal storage disorder due to acid lipase deficiency, often presenting with infantile cholestasis and cirrhosis.

Observation:

  • An infant presented with advanced liver cirrhosis, decompensation, and splenomegaly.
  • Bilateral adrenal calcifications on abdominal X-ray served as a key diagnostic clue for Wolman disease.

Findings:

  • The infant's condition was diagnosed as Wolman disease, confirmed by genetic analysis.
  • The patient experienced a poor outcome, succumbing before six months of age.

Implications:

  • This case highlights the importance of considering Wolman disease in infantile cholestasis and cirrhosis.
  • The diagnostic utility of abdominal radiography for adrenal calcifications in suspected Wolman disease is emphasized.
  • The lack of effective treatments like enzyme replacement or stem cell transplantation underscores the need for further research.

Keywords:
Wolman's diseaseadrenal calcificationcirrhosisinfantile cholestasis

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