CONGENITAL CYTOPLASMIC BODY MYOPATHY WITH SURVIVAL MOTOR-NEURON GENE DELETION OR WERDNIG-HOFFMANN-DISEASE

A 5-week-old boy became rigid and developed cardiac arrest after recei ving succinylcholine. He was resuscitated and ventilated but died at 5 months. Muscle biopsy demonstrated no neurogenic features and numerou s cytoplasmic bodies, suggesting the possibility of congenital myopath y with cytoplasmic bodies. However, molecular analysis revealed a homo zygous deletion of exons 7 and 8 of the survival motor neuron (SMN) ge ne, suggesting that the patient had Werdnig-Hoffmann disease. We recom mend that every patient with congenital cytoplasmic body myopathy be t ested for SMN gene deletion.