A case of brain-lung-thyroid syndrome / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 396-400, 2022.
Artigo
em Inglês
| WPRIM
| ID: wpr-928983
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome do Desconforto Respiratório do Recém-Nascido
/
Atetose
/
Coreia
/
Tosse
/
Hipotireoidismo Congênito
/
Fator Nuclear 1 de Tireoide
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2022
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS