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Niemann Pick disease--a case report.

V S Sonavane1, S R Rane, V M Bapat

  • 1Department of Pathology, BJ Medical College, Pune.

Indian Journal of Pathology & Microbiology
|February 4, 2003
PubMed
Summary
This summary is machine-generated.

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Niemann-Pick disease, a rare pediatric disorder, presents unique clinical and hematological features. This case study details the autopsy findings in a one-year-old male, offering insights into the disease

Area of Science:

  • Biochemistry
  • Pediatric Pathology
  • Genetics

Background:

  • Niemann-Pick disease is a rare, inherited metabolic disorder.
  • It primarily affects infants and children, leading to progressive neurodegeneration.
  • Lysosomal accumulation of sphingomyelin is a hallmark of the disease.

Observation:

  • A one-year-old male child presented with symptoms indicative of Niemann-Pick disease.
  • Detailed clinical observations were recorded throughout the patient's illness.
  • Hematological parameters were analyzed to identify characteristic changes.

Findings:

  • The study presents comprehensive autopsy findings in a confirmed case of Niemann-Pick disease.
  • Specific pathological alterations in organs and tissues were identified.

Related Experiment Videos

  • Correlation between clinical presentation and post-mortem examination is discussed.

    • Implications:

    • Understanding the pathological progression of Niemann-Pick disease is crucial for diagnosis.
    • Autopsy findings contribute to the knowledge base for rare pediatric disorders.
    • This case report may aid in developing targeted therapeutic strategies.