以新生儿期喉鸣为首发表现的先天性肌无力1例

Congenital myasthenia with neonatal laryngeal wheezing as the first manifestation:a case report

患儿,男性,出生21 h,因发现嗓音异常17 h入院,入院后未予特殊处理,完善相关辅助检查未见异常,患儿吃奶、反应好,喉鸣音消失出院。出院后患儿反复发作呼吸困难,完善全外显子基因检测,发现COLQ基因有2个杂合突变,c.806dup杂合突变和c.706del杂合突变,初步判定为致病性变异,与之相关联的疾病是先天性肌无力综合征5型,属常染色体隐性遗传。

The patient,male,who was born 21 h before,was admitted to the hospital due to abnormal voice for 17 h.No special treatment was given after admission,and relevant auxiliary examinations were completed without showing any abnormalities.The patient was on breastfeeding normally and had a good reaction.The throat sounds disappeared before being discharged.After discharge,the patient experienced recurrent respiratory distress.Further whole-exon genetic testing showed that there were 2 heterozygous mutations of COLQ gene:heterozygous mutation of c.806dup and heterozygous mutation of c.706del,which was decided to be pathogenetic variation.The disease associated with it is congenital myasthenia syndrome type 5,belonging to autosomal recessive inheritance.