This Article Full Text (PDF) All Versions of this Article: 0883073808331083v1 24/7/895    most recent References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Scopus Google Scholar Articles by Yis, U. Articles by Dirik, E. PubMed PubMed Citation Articles by Yis, U. Articles by Dirik, E. Social Bookmarking                         What's this?

Temporary Diazepam Responsive Apneic Attacks and Congenital Myasthenic Syndrome

Uluç Yi, MD

Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey, ulyis{at}yahoo.com

Semra Hiz Kurul, MD

Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University School of Medicine, Izmir, Turkey

Íbrahim Öztura, MD

Department of Neurology, Dokuz Eylül University School of Medicine, Izmir, Turkey

Ömer Özden, MD

Department of Pediatrics, Dokuz Eylül University School of Medicine, Izmir, Turkey

Gülçin Akinci, MD

Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University School of Medicine, Izmir, Turkey

Eray Dirik, MD

Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University School of Medicine, Izmir, Turkey

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.

Key Words: congenital myasthenia • choline acetyltransferase mutation • diazepam • myopathic electromyography

This version was published on July 1, 2009

Journal of Child Neurology, Vol. 24, No. 7, 895-898 (2009)
DOI: 10.1177/0883073808331083


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?