脑-肺-甲状腺综合征1例

A case of brain-lung-thyroid syndrome

脑-肺-甲状腺综合征是一种罕见的常染色体显性遗传性疾病,目前全球共报道100余例,国内鲜有报道。2018年12月中南大学湘雅医院儿科收治1例3岁10月龄男性脑-肺-甲状腺综合征患儿,该患儿因反复咳嗽3年余就诊。患儿婴儿期开始发现精神运动发育落后,反复咳嗽,甲状腺功能低下。基因检测显示在NKX2-1基因上有c.927delC杂合变异(NM-001079668:exon3:c.927delC),目前该基因位点的变异未见相关文献报道,为新发突变。根据上述临床表现和检查结果,本患儿确诊为脑-肺-甲状腺综合征,以神经系统症状为主,伴呼吸系统损伤和甲状腺功能降低。予口服多巴丝肼缓解震颤,优甲乐缓解甲状腺功能低下,抗感染、雾化、康复训练等对症支持治疗,患儿语言及运动均有进步,甲状腺激素水平正常,但仍有反复呼吸道感染。

Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c. 927delc heterozygous variation in NKX2-1 gene(NM-001079668: exon3: c.927del C). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lungthyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy’ s language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.