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

Pinar Arican; Pinar Gencpinar; Dilek Cavusoglu; Nihal Olgac Dundar

doi:10.1055/s-0038-1654706

Neuropediatrics, Table of Contents

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

Authors

Pinar Arican

¹Department of Pediatric Neurology, Izmir Tepecik Education and Research Hospital, Izmir, Turkey
Pinar Gencpinar

²Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey
Dilek Cavusoglu

³Department of Pediatric Neurology, Afyon Kocatepe University, Afyon, Turkey
Nihal Olgac Dundar

²Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey

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.

Keywords

congenital myasthenic syndrome - choline acetyltransferase - episodic apnea

Full Text

References

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