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An unusual presentation of Gaucher disease in an infant with progressive dyspnea

Joshua M Levy1, Daniel A Glass, Kimsey H Rodriguez

  • 1Department of Otolaryngology-Head and Neck Surgery, Tulane University School of Medicine, New Orleans, LA.

Ochsner Journal
|June 22, 2013
PubMed

Insights

Gaucher disease, a lysosomal storage disorder, can present with dyspnea. Early diagnosis and treatment are crucial for preventing irreversible complications in affected infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Gaucher disease is a common lysosomal storage disorder caused by impaired glucocerebroside metabolism.
  • While dyspnea is frequent in advanced stages, it's rarely a presenting symptom.

Observation:

  • A 10-month-old male infant presented with progressive dyspnea, cervical adenopathy, inspiratory stridor, and developmental delay.
  • Diagnostic workup included lymph node biopsy and enzyme assay.

Findings:

  • Enzyme assay and biopsy confirmed Gaucher disease.
  • This case highlights dyspnea as an unusual presenting symptom.

Implications:

  • A high index of suspicion is necessary for early Gaucher disease diagnosis.
  • Consider Gaucher disease in infants with failure to thrive, lymphadenopathy, and respiratory/neurologic symptoms.
  • Early intervention is critical to prevent irreversible disease progression.
Abstract

Keywords:
Gaucher diseaselymphoproliferative diseaseslysosomal storage diseasesrespiratory sounds

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