Recurrent apparent life-threatening event as the first manifestation of congenital myasthenia.
Rev Paul Pediatr
; 31(1): 121-3, 2013.
Article
em En, Pt
| MEDLINE
| ID: mdl-23703054
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. CASE DESCRIPTION: 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. COMMENTS: The careful etiological investigation of apparent life-threatening events may lead to rare diagnosis that requires specific treatments, such as congenital myasthenia.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Miastênicas Congênitas
/
Evento Inexplicável Breve Resolvido
Limite:
Female
/
Humans
/
Infant
Idioma:
En
/
Pt
Revista:
Rev Paul Pediatr
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Brasil