A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure

Frontiers in Pediatrics

article

Yanhua Shen¹  Bo Wang¹  Xia Zheng¹  Wenwen Zhang¹  Hailan Wu¹  Mingyan Hei¹ 

[1] Neonatal Center, Beijing Children's Hospital, Capital Medical University;National Center for Children's Health

关键词: MUSK gene;    congenital myasthenic syndrome;    respiratory failure;    Chinese;    neonate;   

DOI  :  10.3389/fped.2020.00166

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY