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Gaucher disease with jawbone involvement: a case report.
Azadeh Ahmadieh, Fariborz Farnad, Parish P Sedghizadeh1
1Ostrow School of Dentistry of USC, University of Southern California, Los Angeles, CA, USA. sedghiza@usc.edu.
Journal of Medical Case Reports
|November 6, 2014
Summary
Gaucher disease, a lysosomal storage disorder, rarely affects craniofacial bones. This case highlights jawbone involvement confirmed by biopsy, emphasizing the need for thorough evaluation of head and neck symptoms.
Area of Science:
- Genetics and rare diseases
- Histopathology and diagnostics
- Lysosomal storage disorders
Background:
- Gaucher disease is the most common autosomal recessive lysosomal storage disorder, characterized by lipid accumulation in macrophages.
- While long bone involvement is common, craniofacial bone involvement is exceptionally rare, with few histopathologically confirmed cases.
- Lysosomal storage diseases can manifest in the head and neck region.
Observation:
- A 46-year-old woman with Gaucher disease presented with mandibular pain and lytic lesions.
- Radiographic findings indicated bone lesions in the jawbone.
- Surgical biopsy of the mandibular lesion revealed Gaucher cells.
Findings:
- Histopathological examination confirmed Gaucher cells infiltrating the mandible.
- The findings supported a diagnosis of Gaucher disease with jawbone involvement.
- This case represents a rare instance of craniofacial bone involvement in Gaucher disease.
Implications:
- Head and neck manifestations, including bone involvement, should be considered in patients with lysosomal storage disorders.
- A thorough review of systems and medical history is crucial for early detection.
- Biopsy may be necessary for definitive diagnosis of jawbone lesions and to differentiate from other conditions.
