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Wolman's disease in a Jordanian infant

A H Mahdi1, S A al-Mashhadani, M al-Nasser

  • 1Department of Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Annals of Tropical Paediatrics
|January 1, 1991
PubMed

Insights

This case study presents the first reported instance of Wolman

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Wolman disease is a rare lysosomal storage disorder.
  • It is characterized by the accumulation of triglycerides and cholesterol esters.
  • Genetic mutations lead to deficient lysosomal acid lipase activity.

Observation:

  • A Jordanian infant presented with clinical signs suggestive of Wolman disease.
  • Radiological imaging revealed bilateral adrenal calcifications.
  • Bone marrow examination identified foam cells.

Findings:

  • Skin fibroblast culture confirmed the diagnosis.
  • Enzyme assays demonstrated significantly reduced acid esterase activity.
  • This indicates a deficiency in lysosomal acid lipase.

Implications:

  • This case highlights the importance of recognizing radiological signs for early diagnosis.
  • It underscores the utility of biochemical assays in confirming rare genetic disorders.
  • Early diagnosis and management are crucial for improving outcomes in Wolman disease.

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