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A Rare Pitfall in Bone Mineral Densitometry: Gaucher Disease
Mine Araz1, Gizem Sutcu1, Llknur Surucu Kara2
1From the Departments of Nuclear Medicine.
Clinical Nuclear Medicine
|July 7, 2022
Summary
This rare case highlights type 3 Gaucher disease with calcified mesenteric lymph nodes. These calcifications can obstruct accurate bone mineral density measurements.
Area of Science:
- Medical Genetics
- Pediatric Gastroenterology
- Radiology
Background:
- Gaucher disease is a rare lysosomal storage disorder.
- Type 3 Gaucher disease presents with varying neurological and visceral manifestations.
- Mesenteric lymph node calcification is an uncommon finding in Gaucher disease.
Observation:
- A rare case of type 3 Gaucher disease was identified.
- The patient presented with calcified mesenteric lymph nodes.
- These calcifications posed a challenge for bone densitometry.
Findings:
- Calcified mesenteric lymph nodes in type 3 Gaucher disease can artifactually alter bone mineral densitometry readings.
- This case underscores the importance of recognizing atypical presentations of Gaucher disease.
Implications:
- Awareness of this presentation is crucial for accurate diagnosis and monitoring of Gaucher disease.
- Alternative methods for bone density assessment may be necessary in affected individuals.
- Further research into the pathogenesis of lymph node calcification in Gaucher disease is warranted.
