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[Wolman disease]

K Mnif1, A Chabchoub, Z Marrakchi

  • 1Service de néonatologie, centre de maternité et de néonatologie de la Rabta, Tunis, Tunisie.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|July 1, 1994
PubMed
Summary
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Wolman disease, a rare genetic disorder, caused severe illness and death in infancy. This case highlights its autosomal recessive inheritance and the importance of early diagnosis through acid lipase deficiency testing.

Area of Science:

  • Genetics
  • Pediatrics
  • Metabolic Disorders

Background:

  • Wolman disease is a severe, fatal lysosomal storage disorder.
  • Characterized by hepatosplenomegaly and adrenal calcifications.
  • Typically results in death within the first year of life.

Observation:

  • A Tunisian infant presented with hepatomegaly, vomiting, watery stools, and failure to thrive.
  • Family history revealed two deceased sisters with similar symptoms and adrenal calcifications.
  • The patient exhibited hepatomegaly without splenomegaly and anemia; liver biopsy showed vacuolated cells.

Findings:

  • Acid lipase deficiency was confirmed in cultured skin fibroblasts, diagnosing Wolman disease.
  • The condition was inherited as an autosomal recessive disorder.

Related Experiment Videos

  • The patient and his two sisters died within the first six months of life.

    • Implications:

    • This case represents the first documented instance of Wolman disease in Tunisia.
    • Demonstrates the utility of fibroblast acid lipase activity assays for diagnosis.
    • Highlights the importance of considering genetic counseling and prenatal diagnosis in affected families.