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

Neurology. 1998 Sep;51(3):873-5. doi: 10.1212/wnl.51.3.873.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Cyclic AMP Response Element-Binding Protein
  • Fatal Outcome
  • Gene Deletion
  • Humans
  • Inclusion Bodies / pathology*
  • Inclusion Bodies / ultrastructure
  • Infant
  • Male
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology*
  • Nerve Tissue Proteins / genetics*
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / pathology*

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins