X-linked myotubular myopathy: a case report of prenatal and perinatal aspects

Pediatr Pathol. 1992 Jul-Aug;12(4):535-43. doi: 10.3109/15513819209024203.


Nine families have been reported in which male newborns presented with X-linked myotubular (centronuclear) myopathy. Little is known about the biochemical basis of this disorder or about its natural history in utero. We report a family in which an infant with myotubular myopathy presented in utero with polyhydramnios, poor fetal movement, and fetal cardiac arrhythmias. Shortly after birth the infant died from severe respiratory insufficiency. Gas chromatography-mass spectrophotometry for serum organic acids showed a large octanoic acid peak, but total acyl-CoA dehydrogenase activities in liver were normal. The maternal family history was significant for two perinatal male deaths. Postmortem examination revealed generalized muscle wasting, cardiac enlargement, cryptorchidism, and flexion contractures. Examination of muscle showed numerous fibers that had enlarged, centrally located nuclei and perinuclear clear zones. The muscle fibers were hypotrophic and predominantly of type I. Biopsy specimens of the muscles of the mother and maternal aunt had increased numbers of centrally located nuclei. Neurologic examination was normal. The case demonstrates the typical clinical course, pathology, and family history of severe X-linked myotubular myopathy. In addition, it confirms the reported detection of fetal cardiac arrhythmias and documents what may be an abnormality in fatty acid oxidation.

Publication types

  • Case Reports

MeSH terms

  • Family
  • Genetic Linkage*
  • Humans
  • Infant, Newborn
  • Male
  • Medical Records
  • Microscopy, Electron
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology*
  • Pedigree
  • X Chromosome*