The Curse of Apneic Spells

Semin Pediatr Neurol. 2018 Jul:26:56-58. doi: 10.1016/j.spen.2017.03.006. Epub 2017 Apr 13.

Abstract

A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and DMPK genes, the RAPSN gene revealed one known mutation, p.Asn88Lys, from the mother, and one novel mutation, p.Cys366Gly, from the father. Life-saving pyridostigmine treatment suppressed her apneic spells and improved her motor development.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Humans
  • Microscopy, Electron
  • Muscle Proteins / genetics
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology
  • Muscle, Skeletal / ultrastructure
  • Mutation / genetics
  • Myasthenic Syndromes, Congenital / complications
  • Myasthenic Syndromes, Congenital / genetics
  • Sleep Apnea Syndromes* / genetics
  • Sleep Apnea Syndromes* / pathology
  • Sleep Apnea Syndromes* / physiopathology

Substances

  • Muscle Proteins
  • peripheral membrane protein 43K