Skeletal dysplasia presenting as a neuromuscular disorder – report of three children

Three pediatric patients were investigated because of suspected muscle disorder. They were clumsy with an awkward looking waddling gait and had increasing muscle weakness and pain in the legs. Serum CK-values, electroneuromyography (ENMG) and muscle biopsy were all normal. A post-traumatic X-ray of the ankle of one of them showed epiphyseal changes and his condition was diagnosed as Camurati–Engelmann disease. Because of similarities in the clinical presentation of these boys, bone changes were looked for in the two other patients and a diagnosis of multiple epiphyseal dysplasia was made. Skeletal dysplasia should be considered as a diagnostic alternative when a child presents with an unexplained muscle weakness accompanied with pain in the limbs. Specific treatment for bone dysplasias can alleviate symptoms and prevent fractures.