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Bilateral Perthes Masking Morquio Disease
Hugo Flores-Navarro1, Douglas Colmenares-Bonilla2
1Department of Pediatric Orthopedic, Hospital Civil de Guadalajara Fray Antonio Alcalde, Guadalajara, Mexico.
Journal of Orthopaedic Case Reports
|April 13, 2022
Summary
Early diagnosis of rare skeletal dysplasias like Morquio disease is crucial. Recognizing subtle radiographic signs beyond typical Perthes disease presentations aids in identifying these progressive conditions.
Area of Science:
- Orthopedics
- Genetics
- Radiology
Background:
- Perthes disease radiography can obscure other conditions.
- Atypical presentations require careful diagnostic consideration.
Observation:
- A girl presented with hip pain and limp, initially diagnosed with Perthes disease.
- Full body X-rays revealed skeletal dysplasia, prompting further investigation.
- A younger brother's history of respiratory infections and abnormal X-rays suggested a metabolic disorder.
Findings:
- Multiple dysostoses were identified in both siblings.
- Molecular testing confirmed an attenuated variant of Morquio disease.
- The initial diagnosis of Perthes disease was incorrect.
Implications:
- Early diagnosis of progressive diseases like Morquio disease prevents multi-organ deterioration.
- Physicians must be aware of Perthes disease characteristics to avoid misdiagnosis.
- Comprehensive evaluation, including family history and full-body imaging, is vital for rare disease diagnosis.
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