A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure.
Chinese
MUSK gene
congenital myasthenic syndrome
neonate
respiratory failure
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2020
2020
Historique:
received:
29
12
2019
accepted:
24
03
2020
entrez:
7
5
2020
pubmed:
7
5
2020
medline:
7
5
2020
Statut:
epublish
Résumé
This was a Chinese neonatal congenital myasthenic syndromes case caused by muscle skeletal receptor tyrosine kinase gene mutations, which have not been recorded in the Human Gene Mutation Database. The newborn girl had refractory respiratory failure from birth to death, and failed extubation seven times. She had two heterozygous mutations: a non-sense mutation c.2062C>T (p.Q688X) inherited from father and a missense mutation c.2324T>C (p.F775S) inherited from mother, which was predicted pathogenic and harmful by bioinformatic softwares SIFT, PolyPhen_2 and REVEL. She positively responded to Neostigmine, but her parent quitted treatment when Pyridostigmine Bromide (2 mg/kg Q12 h) had been given for 8 days. She died 2 days after she was taken home by her parents on age of 56 days.
Identifiants
pubmed: 32373561
doi: 10.3389/fped.2020.00166
pmc: PMC7176811
doi:
Types de publication
Case Reports
Langues
eng
Pagination
166Informations de copyright
Copyright © 2020 Shen, Wang, Zheng, Zhang, Wu and Hei.
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