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Gaucher's disease type III C: Unusual cause of intracardiac calcification

Sejal Shah1, Amit Misri, Meenakshi Bhat

  • 1Department of Pediatric Cardiology, Narayana Hrudayalaya Institute of Medical Sciences, Bangalore, India.

Annals of Pediatric Cardiology
|March 20, 2010
PubMed

Insights

Gaucher

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Gaucher's disease is a rare genetic disorder.
  • It affects multiple organs due to enzyme deficiency.
  • Early diagnosis is crucial for management.

Observation:

  • A 12-year-old girl presented with dyspnea, sinusitis, and epistaxis.
  • She also had intracardiac calcification, oculomotor apraxia, and corneal deposits.
  • Symptoms began at age 6, indicating early onset and multiorgan involvement.

Findings:

  • Bone marrow aspirate confirmed Gaucher's disease.
  • The patient's symptoms represented an unusual and severe presentation.
  • Multisystemic manifestations were key diagnostic clues.

Implications:

  • This case highlights the diverse clinical spectrum of Gaucher's disease.
  • It emphasizes the importance of considering metabolic disorders in pediatric cases with unusual symptoms.
  • Prompt diagnosis and management can improve patient outcomes.

Keywords:
Gaucher's disease type III Cintracardiac calcificationoculomotor apraxia

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