title: Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease.
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.
authors.affiliation: Division of Neurology, The Hospital for Sick Children and University of Toronto, Ontario, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Vajsar
authors.forename: T
authors.initials: T
authors.lastname: Balslev
authors.forename: P N
authors.initials: PN
authors.lastname: Ray
authors.forename: J
authors.initials: J
authors.lastname: Siegel-Bartelt
authors.forename: V
authors.initials: V
authors.lastname: Jay
mesh_terms: D001706:Biopsy; D017362:Cyclic AMP Response Element-Binding Protein; D017809:Fatal Outcome; D017353:Gene Deletion; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D007223:Infant; D008297:Male; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics / Q000473:pathology*
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins