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[Wolman's disease].

F Vargas Torcal1, A Gómez García, J Cuevas

  • 1Servicio de Pediatría Hospital General de Elche.

Anales Espanoles De Pediatria
|September 1, 1987
PubMed
Summary
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This study details two brothers with pediatric Wolman's disease, a rare genetic disorder. Diagnosis was confirmed by pathological findings and significantly low acid esterase activity, leading to early mortality in both cases.

Area of Science:

  • Pediatric Genetics
  • Lysosomal Storage Diseases
  • Biochemical Pathology

Background:

  • Wolman's disease is a rare, inherited lysosomal storage disorder.
  • The pediatric form presents severe, early-onset symptoms.
  • Genetic defects lead to impaired lipid metabolism.

Observation:

  • Two brothers presented with symptoms of pediatric Wolman's disease.
  • Adrenal calcification was noted in one brother.
  • Pathological examination revealed vacuolated cells and cholesterol crystals in Kupffer cells.

Findings:

  • Acid esterase activity was pathognomonically low (0.85 nmol/mg/m) in the affected brother, compared to normal parental values and a reference of 30 nmol/mg/m.
  • Diagnostic confirmation through bone marrow and intestinal villi pathology.

Related Experiment Videos

  • Prenatal diagnosis in a third pregnancy showed normal enzymatic activity.

    • Implications:

    • Highlights the diagnostic utility of biochemical and pathological markers in Wolman's disease.
    • Emphasizes the severe prognosis and early mortality associated with the pediatric form.
    • Demonstrates the effectiveness of prenatal diagnosis for at-risk pregnancies.