Congenital myasthenic syndrome with sleep hypoventilation

S. T. Iannaccone, J. K. Mills, K. M. Harris, J. H. Herman, P. Schochet, P. Luckett

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

We report the case of a 13-year-old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life-threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases. His lung volumes, but not motor function, improved after treatment. (C) 2000 John Wiley and Sons, Inc.

Original languageEnglish (US)
Pages (from-to)1129-1132
Number of pages4
JournalMuscle and Nerve
Volume23
Issue number7
DOIs
StatePublished - Jul 1 2000

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Keywords

  • Acetylcholinesterase deficiency
  • Congenital myasthenic syn- drome
  • Noninvasive ventilation
  • Polysomnogram
  • Restrictive lung disease

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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