title: Temporary diazepam responsive apneic attacks and congenital myasthenic syndrome.
abstract: 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 I336T 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 of these cases is that response to esterase inhibitors is satisfactory. We present a case of congenital myasthenic syndrome with I336T 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.
authors.affiliation: Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey. ulyis@yahoo.com
authors.forename: Uluç
authors.initials: U
authors.lastname: Yis
authors.forename: Semra Hiz
authors.initials: SH
authors.lastname: Kurul
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Oztura
authors.forename: Omer
authors.initials: O
authors.lastname: Ozden
authors.forename: Gülçin
authors.initials: G
authors.lastname: Akinci
authors.forename: Eray
authors.initials: E
authors.lastname: Dirik
mesh_terms: D001763:Blepharoptosis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D002795:Choline O-Acetyltransferase / Q000235:genetics*; D003975:Diazepam / Q000627:therapeutic use*; D004576:Electromyography; D005260:Female; D006801:Humans; D006993:Hypnotics and Sedatives / Q000627:therapeutic use*; D007223:Infant; D020125:Mutation, Missense; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D017422:Sequence Analysis, DNA; D016896:Treatment Outcome
chemical_list: D006993:Hypnotics and Sedatives; D002795:Choline O-Acetyltransferase; D003975:Diazepam