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, Inhaltsverzeichnis

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

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

› Institutsangaben

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

Volltext

Referenzen

References
1 Engel AG. Current status of the congenital myasthenic syndromes. Neuromuscul Disord 2012; 22 (02) 99-111
2 Lorenzoni PJ, Scola RH, Kay CS, Werneck LC. Congenital myasthenic syndrome: a brief review. Pediatr Neurol 2012; 46 (03) 141-148
3 Natera-de Benito D, Töpf A, Vilchez JJ. , et al. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscul Disord 2017; 27 (12) 1087-1098
4 Yiş U, Becker K, Kurul SH. , et al. Genetic landscape of congenital myasthenic syndromes from Turkey: novel mutations and clinical insights. J Child Neurol 2017; 32 (08) 759-765
5 Ohno K, Tsujino A, Brengman JM. , et al. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 2001; 98 (04) 2017-2022
6 Maselli RA, Chen D, Mo D, Bowe C, Fenton G, Wollmann RL. Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis. Muscle Nerve 2003; 27 (02) 180-187
7 Barisic N, Müller JS, Paucic-Kirincic E. , et al. Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. Eur J Paediatr Neurol 2005; 9 (01) 7-12
8 Schara U, Christen HJ, Durmus H. , et al. Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations. Eur J Paediatr Neurol 2010; 14 (04) 326-333
9 Mallory LA, Shaw JG, Burgess SL. , et al. Congenital myasthenic syndrome with episodic apnea. Pediatr Neurol 2009; 41 (01) 42-45
10 Shen XM, Crawford TO, Brengman J. , et al. Functional consequences and structural interpretation of mutations of human choline acetyltransferase. Hum Mutat 2011; 32 (11) 1259-1267
11 Arredondo J, Lara M, Gospe Jr SM. , et al. Choline acetyltransferase mutations causing congenital myasthenic syndrome: molecular findings and genotype-phenotype correlations. Hum Mutat 2015; 36 (09) 881-893
12 Tan JS, Ambang T, Ahmad-Annuar A, Rajahram GS, Wong KT, Goh KJ. Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. Muscle Nerve 2016; 53 (05) 822-826