Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease

J Vajsar, T Balslev, PN Ray, J Siegel-Bartelt, V Jay - Neurology, 1998 - AAN Enterprises
J Vajsar, T Balslev, PN Ray, J Siegel-Bartelt, V Jay
Neurology, 1998AAN Enterprises
A 5-week-old boy became rigid and developed cardiac arrest after receiving
succinylcholine. He was resuscitated and ventilated but died at 5 months. Muscle biopsy
demonstrated no neurogenic features and numerous cytoplasmic bodies, suggesting the
possibility of congenital myopathy with cytoplasmic bodies. However, molecular analysis
revealed a homozygous deletion of exons 7 and 8 of the survival motor neuron (SMN) gene,
suggesting that the patient had Werdnig-Hoffmann disease. We recommend that every …
A 5-week-old boy became rigid and developed cardiac arrest after receiving succinylcholine. He was resuscitated and ventilated but died at 5 months. Muscle biopsy demonstrated no neurogenic features and numerous cytoplasmic bodies, suggesting the possibility of congenital myopathy with cytoplasmic bodies. However, molecular analysis revealed a homozygous deletion of exons 7 and 8 of the survival motor neuron (SMN) gene, suggesting that the patient had Werdnig-Hoffmann disease. We recommend that every patient with congenital cytoplasmic body myopathy be tested for SMN gene deletion.
American Academy of Neurology