A case of brain-lung-thyroid syndrome / 中南大学学报(医学版)

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.

Recurrent Peumonia in an Infant With an Esophageal Lung

Esophageal lung is a rare variety of communicatingbronchopulmonary foregut malformation with anomaolouscommunication between an isolated portion of respiratory tissueand esophagus. Children present in early life with recurrentcough and pneumonia. Majority of the reported cases areassociated with other anomalies like tracheoesophageal fistula.We report a case of a 7-month-old girl with right sidedesophageal lung who was misdiagnosed as dextrocardia withright sided pneumonitis

Clinical analysis and follow-up of neonatal lower respiratory tract infection with respiratory syncytial virus / 中华实用儿科临床杂志

Objective To investigate the clinical features of neonatal lower respiratory tract infection (LRTI)with respiratory syncytial virus(RSV),and to explore the relationship between clinical features and recurrcnt cough or wheezing after discharge.Methods From May 2008 to May 2013,the data of 41 neonates diagnosed as LRTI with RSV infection in New Century International Children's Hospital were analyzed retrospectively.The clinical features and follow-up results were observed.Results All the neonates had cough,92.7％ (38/41 cases) had choking,85.4％ (35/41 cases) had runny nose and nasal obstruction,31.7％ (13/41 cases) had fever,65.9％ (27/41 cases) had wheezing sound during physical examination,29.3％ (12/41 cases)of the neonates were accompanied with bacterial infection(n=29),in which 50.0％ (6/12 cases) were infected by staphylococcus aureus.Compared to the neonates only with RSV infection,the proportion of fever was higher in those with RSV combined with bacterial infection (n =12)(x2 =6.034,P ＜ 0.05),and there were no statistical differences between the neonates with or without bacterial infection in white blood cell count and with or without shadow in chest X-ray(x2 =0.859,2.064,P =0.485,0.202).Compared with the neonates without family history of atopy,the neonates with the family history of atopy were more likely to get wheezing (88.2％ vs 57.1％,x2 =4.871,P ＜ 0.05) during primary infection.During the follow-up,there was higher proportion of children with family history of atopy in the group with subsequent recurrent cough and/or wheezing than in the group without subsequent recurrent cough and/or wheezing (71.4％ vs 26.3％,x2 =6.388,P ＜ 0.05).Conclusions Cough,choking are most common symptoms in neonatal LRTI with RSV,and there is no wheezing sound during phy-sical examination in some neonates.LRTI with RSV is likely combined with bacterial infection.Wheezing is more common in the neonates with family history of atopy.The RSV LTRI neonates with family history of atopy incline to get subsequent recurrent cough or wheeze after discharge.