A case of brain - lung - thyroid syndrome

Abstract

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 December 2018, 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 3 years. 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.927delC). 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-lung-thyroid 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.

Keywords: NKX2-1 gene; brain-lung-thyroid sydrome; hypothyroidism; psychomotor retardation; recurrent cough.

图1

脑-肺-甲状腺综合征患儿颅脑磁共振影像 Figure 1 Image of brain magnetic resonance in a child with brain-lung-thyroid syndrom A: T₁WI shows that the pituitary is unclear and the high signal in the posterior pituitary disappears. B: T₂WI-fair shows that the pituitary is flat on the saddle bottom, suggesting pituitary dysplasia.

图2

脑-肺-甲状腺综合征患儿肺部CT影像 Figure 2 CT of the lungs in a child with brain-lung-thyroid syndrom A: Chest CT shows scattered ground glass shadows in both lungs, uneven aeration and thickening of bronchial wall. B: Scattered tiny nodules are seen in both lungs.