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Mannosidosis: an unusual cause of a deforming arthropathy
D E DeFriend1, A E Brown, C W Hutton
1Department of Radiology, Derriford Hospital, Plymouth, UK.
Abstract:
We report on a case of a deforming arthropathy in a young man with a lysosomal storage disorder. A 31-year-old man with a known diagnosis of mannosidosis presented with a painful swollen right elbow. Radiographs of his right elbow showed a disorganised joint with multiple fragments resembling the appearances of a neuropathic joint. This case provides further evidence that a deforming arthropathy may occur as part of the spectrum of skeletal abnormalities seen in mannosidosis.
Insights
Mannosidosis, a lysosomal storage disorder, can cause deforming arthropathy. This case highlights joint destruction in a young man, resembling neuropathic joints, underscoring skeletal manifestations of mannosidosis.
Area of Science:
- Medical Genetics
- Rheumatology
- Metabolic Disorders
Background:
- Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases.
- Mannosidosis is a rare LSD caused by alpha-mannosidase deficiency, leading to glycoprotein accumulation.
- Skeletal abnormalities are recognized complications in various LSDs.
Observation:
- A 31-year-old male with diagnosed mannosidosis presented with acute right elbow pain and swelling.
- Radiographic imaging revealed a severely disorganized elbow joint with intra-articular fragments.
- The joint's appearance was highly suggestive of a neuropathic arthropathy.
Findings:
- This case demonstrates a deforming arthropathy in a patient with mannosidosis.
- The observed joint pathology mimicked neuropathic joint disease.
- This presentation expands the spectrum of known skeletal manifestations in mannosidosis.
Implications:
- Clinicians should consider deforming arthropathy in the differential diagnosis of joint destruction in mannosidosis patients.
- Early recognition of skeletal complications may allow for timely management and potentially slow disease progression.
- Further research into the pathogenesis of arthropathy in LSDs is warranted.