A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy

J Child Neurol. 2007 Nov;22(11):1301-4. doi: 10.1177/0883073807307105.

Abstract

We report a male term newborn with genetically confirmed spinal muscular atrophy type 0, presenting with arthrogryposis and severe generalized weakness and requiring ventilatory support. Muscle biopsy revealed fibers with central nuclei resembling myotubes and negative myotubularin immunohistochemical staining compared with a control muscle biopsy. The absence of myotubularin associated with survival motor neuron protein deficiency suggests that survival motor neuron protein may have a role in muscle fiber maturation and myotubularin expression. Studying the pathology of this rare and lethal neonatal form of spinal muscular atrophy may further our understanding of spinal muscular atrophy pathogenesis.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Infant, Newborn
  • Male
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Muscular Atrophy, Spinal / metabolism
  • Muscular Atrophy, Spinal / pathology*
  • Myopathies, Structural, Congenital / diagnosis*
  • Protein Tyrosine Phosphatases, Non-Receptor / metabolism

Substances

  • Protein Tyrosine Phosphatases, Non-Receptor
  • myotubularin