Multipele epifysaire dysplasie

Background

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogenous skeletal dysplasia. MED is usually inherited as a dominant trait, however, in a quarter of patients it is a recessive trait. Common symptoms of MED are pain and stiffness of joints. However, MED also can present as a neuromuscular disorder with hypotonia and muscle weakness, particularly in childhood.

Case description

We saw a 7-year-old boy with abnormal gait and slight weakness of the upper legs at our outpatient clinic. Because of his short stature and other skeletal anomalies, skeletal dysplasia was considered. The diagnosis of MED was confirmed by DNA analysis. A mutation in the cartilage oligomeric matrix protein (COMP) gene was found.

Conclusion

Skeletal dysplasia should be included in the differential diagnosis of children with unexplained neuromuscular symptoms.

Conflict of interest and financial support: disclosure forms provided by the authors are available along with the full text of this article at www.ntvg.nl, search for A6604; click on ‘Belangenverstrengeling’ (‘Conflict of interest’).