Background Spondyloepiphyseal dysplasia (DSE) is a genetic chondrodysplasia causing early osteoarthritis witch prédominates in hips, knees and shoulders. We report in this context 7cases.
Objectives We propose to study the clinical and radiologcal features of spondyloepiphyseal dysplasia in our patients.
Methods We studied the clinical and radiological features collected from records of patients treated for spondyloepiphyseal dysplasia.
Results This was 7 patients (4H/3F) 31. Their middle age was 31,5 years. The diagnosis delay was on average 6,25ans [4 months-13 years]. Clinical signs were present in all cases: low back pain in 3 cases, hip disease in 3 cases, and a dwarfism in 2 cases. The clinical examination objectified abnormalities in all patients. This was strain in six cases: flexion of the elbows and/or knees, scoliosis in 3 cases each. Joint restriction in one or both hips was observed in 2 patients. The diagnosis was retained in all patients on radiological data. Vertebral dysplasia was demonstrated in 4cas. Femoral involvement was noted in 2 cases (pseudo rheumatoid dysplasia), knees in 2 cases. Three patients underwent measurement of bone mineral density, which found osteoporosis. Treatment was to prescribe analgesics and nonsteroidal antiinflammatory for all patients, a support unit in rehabilitation and physical medicine in one case and total hip in one case.
Conclusions SDE is a child or adolescent pathology which must always be suspected in advanced osteoarthritis in young adults. Early diagnosis, through a better understanding of this entity, could improve the quality of life of these patients.
Kohler G, Hesse B. Epiphyseal dysplasia–symptoms and differential diagnostic aspects. Z Orthop Ihre Grenzgeb. 2004 Jul-Aug;142(4):397-402.
Disclosure of Interest None declared