title: Congenital myasthenic syndrome: a rare, potentially treatable cause of respiratory failure in a "floppy" infant.
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.
authors.affiliation: Department of Anaesthesia, Intensive Care and Pain Management, John Hunter Hospital, Newcastle, N.S.W.
authors.forename: P P
authors.initials: PP
authors.lastname: McConkey
authors.forename: A J
authors.initials: AJ
authors.lastname: Mullens
mesh_terms: D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D004576:Electromyography; D006801:Humans; D007223:Infant; D008297:Male; D020294:Myasthenic Syndromes, Congenital / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D011729:Pyridostigmine Bromide / Q000627:therapeutic use; D012131:Respiratory Insufficiency / Q000209:etiology*
chemical_list: D002800:Cholinesterase Inhibitors; D011729:Pyridostigmine Bromide