Neuropediatrics 2018; 49(04): 283-288
DOI: 10.1055/s-0038-1654706
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review

Pinar Arican
1   Department of Pediatric Neurology, Izmir Tepecik Education and Research Hospital, Izmir, Turkey
,
Pinar Gencpinar
2   Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey
,
Dilek Cavusoglu
3   Department of Pediatric Neurology, Afyon Kocatepe University, Afyon, Turkey
,
Nihal Olgac Dundar
2   Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey
› Institutsangaben

Funding The authors received no financial support for the research, authorship, and/or publication of this article.
Weitere Informationen

Publikationsverlauf

06. Februar 2018

12. April 2018

Publikationsdatum:
21. Mai 2018 (online)

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Abstract

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations. Clinical manifestations usually provoked by infections and fever. CMS due to CHAT mutations are rare, but it is important to diagnosis. Early diagnosis and appropriate treatment can improve morbidity and mortality.

Author Contributions

PA prepared the original manuscript. NOD and PG contributed to the revision of the final manuscript. DC assisted in the preparation of the manuscript.


Declaration of Conflicting Interest

The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.