Schwartz-Jampel Syndrome: a Case Report

Abstract

This report describes a 3-year-old male patient with dwarfism, generalized muscular hypertrophy, stiffness, myotonia, multiple skeletal deformities and normal intelligence. Serum creatine kinase was twice elevated, EMG showed ‘dive bomber’ discharges and muscle biopsy revealed mild to moderate myopathic changes with variability in fiber size and ‘moth-eaten’ fibers. Multiple muscle cell cultures showed significantly lower values of total protein synthesis as determined by (³H)-leucine incorporation. The addition of calcium and/or A23187 calcium ionophorè to cultures significantly stimulated total protein synthesis in contrast to the lack of effect of these drugs in control cultures. These findings suggest a dysfunction of muscle sarcolemma in Schwartz-Jampel syndrome.