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CC BY-NC-ND 4.0 · AJP Rep 2024; 14(03): e193-e196
DOI: 10.1055/a-2363-6319
Case Report

A Case of Congenital Myasthenia Gravis due to ChAT Gene Mutation in a Term Neonate: A Case Report

Maya Soufan 
1   Department of Pediatrics, Corewell Health East Royal Oak, Royal Oak, Michigan
,
Haya Soufan
2   AlFaisal University College of Medicine, Riyadh, Saudi Arabia
,
Kushagra Chaudhari
3   Department of Pediatrics, Corewell Health East Royal Oak, Royal Oak, Michigan
,
Judith Klarr
4   Department of Neonatology, Corewell Health East Royal Oak, Royal Oak, Michigan
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Abstract

Congenital myasthenia gravis syndrome (CMS) is a rare genetic heterogeneous disorder due to abnormal neuromuscular transmission caused by several genes. CMS caused by choline acetyltransferase (ChAT) gene mutations have been reported in 53 cases since 2020, and only three of them have been identified as hemizygous mutations.

A 1-day-old term neonate was transferred from the nursery to the neonatal intensive care unit on 10 L of oxygen by face mask due to respiratory distress. Family history includes two ChAT gene variants in the elder brother and carrier genes in both parents. She was transitioned to continuous positive airway pressure +5, and chest X-ray showed poor chest expansion. Sepsis workup was negative. She was intubated due to worsening respiratory distress 3 days later. She was started on pyridostigmine, and genetic testing was done, which confirmed two ChAT gene mutations present. The patient had a tracheostomy placed on day 50 and was discharged on day 94 of life on tracheostomy and G-tube, given feeding intolerance.

This case illustrates the value of genetic testing in determining the type of CMS to guide management and the importance of obtaining family history to have such syndromes earlier in the differential diagnosis to initiate treatment promptly.

Keywords

congenital myasthenia gravis - neostigmine - ChAT gene - respiratory distress - c.1669 G > A p. (A557T) - c.938_939del p.(F313Cfs*7)


Publication History

Received: 12 February 2024

Accepted: 26 July 2024

Accepted Manuscript online:
10 July 2024

Article published online:
19 July 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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