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Niemann-Pick disease: a case report.

P Saetung1, K Thakerngpol, D Sonakul

  • 1Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet
|November 1, 1990
PubMed
Summary

This report details the second case of infantile Niemann-Pick disease in a Thai newborn. The infant presented with respiratory distress and hepatosplenomegaly, succumbing to bronchopneumonia within 20 days.

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Area of Science:

  • Pediatric Pathology
  • Metabolic Disorders
  • Genetics

Background:

  • Infantile Niemann-Pick disease is a rare lysosomal storage disorder.
  • Early diagnosis and understanding of its pathology are crucial for management.

Observation:

  • A Thai newborn presented with severe respiratory distress and hepatosplenomegaly at birth.
  • The infant succumbed to bronchopneumonia at 20 days of age.

Findings:

  • Autopsy revealed widespread foam cell accumulation in reticuloendothelial organs.
  • Visceral parenchymal cells and central nervous system neurons showed cytoplasmic vacuolization.
  • Electron microscopy confirmed characteristic intracytoplasmic electron-lucent bodies.

Implications:

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  • This case contributes to the understanding of Niemann-Pick disease presentation in Southeast Asia.
  • Histologic and ultrastructural findings align with established literature, aiding in diagnostic confirmation.
  • Further research into genetic variations and therapeutic strategies for Niemann-Pick disease is warranted.