Congenital myasthenic syndrome: a rare, potentially treatable cause of respiratory failure in a "floppy" infant

Anaesth Intensive Care. 2000 Feb;28(1):82-6. doi: 10.1177/0310057X0002800116.

Abstract

A four-month-old infant, thought to suffer from cerebral palsy, presented with respiratory failure on the background of a gradually deteriorating general level of function. Whilst being ventilated in intensive care he was noted to have severe muscle weakness. A disorder of the neuromuscular junction was suspected and he was subsequently demonstrated to have a congenital myasthenic syndrome. Anticholinesterase therapy produced a dramatic recovery. The congenital myasthenic syndromes and the diagnosis of a "floppy baby" are briefly reviewed.

Publication types

  • Case Reports

MeSH terms

  • Cholinesterase Inhibitors / therapeutic use
  • Electromyography
  • Humans
  • Infant
  • Male
  • Myasthenic Syndromes, Congenital / complications*
  • Myasthenic Syndromes, Congenital / diagnosis
  • Myasthenic Syndromes, Congenital / drug therapy
  • Pyridostigmine Bromide / therapeutic use
  • Respiratory Insufficiency / etiology*

Substances

  • Cholinesterase Inhibitors
  • Pyridostigmine Bromide