title: Recurrent apparent life-threatening event as the first manifestation of congenital myasthenia.
abstract: OBJECTIVE
  To alert pediatricians about the importance of a careful investigation on recurrent apparent life-threatening events. Reports of the association of these events with congenital myasthenic syndromes were not found.
  
  
  METHODS
  A seven-month-old infant with recurrent apparent life-threatening events was admitted for investigation. During hospital stay, she presented cyanosis and respiratory failure, requiring mechanical ventilation for three days. After clinical improvement, hypotheses of gastroesophageal reflux and pulmonary aspiration were ruled out. The presence of eyelid ptosis, general hypotonia and weak crying led to the suspicion of congenital myasthenia, which was confirmed. Treatment with oral piridostigmine led to neurological and nutritional normalization, without any other apparent life-threatening event during the next three years.
  
  
  CONCLUSIONS
  The careful etiological investigation of apparent life-threatening events may lead to rare diagnosis that requires specific treatments, such as congenital myasthenia.
authors.affiliation: Unicamp, Campinas, SP, Brasil. matreneves@yahoo.com.br
authors.forename: Mariana Tresoldi das N
authors.initials: MT
authors.lastname: Romaneli
authors.forename: Carla Cristina T de S
authors.initials: CC
authors.lastname: Castro
authors.forename: Andrea de Melo A
authors.initials: Ade M
authors.lastname: Fraga
authors.forename: Elizete Aparecida
authors.initials: EA
authors.lastname: Lomazi
authors.forename: Anamarli
authors.initials: A
authors.lastname: Nucci
authors.forename: Antonia Teresinha
authors.initials: AT
authors.lastname: Tresoldi
mesh_terms: D057768:Brief, Resolved, Unexplained Event / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D020294:Myasthenic Syndromes, Congenital / Q000150:complications* / Q000175:diagnosis*; D012008:Recurrence