Temporary Diazepam Responsive Apneic Attacks and Congenital Myasthenic Syndrome

Yis U., Kurul S. H., ÖZTURA İ., Ozden O., Akinci G., Dirik E.

JOURNAL OF CHILD NEUROLOGY, vol.24, no.7, pp.895-898, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 7
  • Publication Date: 2009
  • Doi Number: 10.1177/0883073808331083
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.895-898
  • Keywords: congenital myasthenia, choline acetyltransferase mutation, diazepam, myopathic electromyography, EPISODIC APNEA, CHOLINE-ACETYLTRANSFERASE, MISSENSE MUTATION, MUSCLE BIOPSY, ELECTROMYOGRAPHY, ACETYLCHOLINE
  • Dokuz Eylül University Affiliated: Yes


Congenital myasthenic syndromes are a genetically and, phenotypically heterogeneous group of hereditary disorders affecting neuromuscular junction. Mutations in the gene encoding choline acetyltransferase cause presynaptic defects. The missense mutation 1336T has been identified in Turkish population, and most of the cases carrying this mutation present with exercise-induced fatigability and ptosis. Although apneic attacks occur in these cases during febrile illness in childhood, the number of reported respiratory distress episodes during infancy is scarce. Another important feature or these cases is that response to esterase inhibitors is satisfactory. We present a case of congenital myasthenic syndrome with 1336T choline acetyltransferase mutation who presented with numerous attacks of respiratory distress in the infancy period. Interestingly, the patient had myopathic findings on electromyography and diazepam decreased severity of apneic attacks. There was also no improvement with esterase inhibitors.