• Rui Gu, Guangyong Ye, Yimin Zhou, and Zhou Jiang.
• Sir Run Run Shaw Hospital.
• Medicine (Baltimore). 2020 Mar 1; 99 (12): e19650.

RationaleMutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome.Patient ConcernsRecurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150 g. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability.DiagnosisGenetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes.InterventionsThe patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures.OutcomesThe patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died.LessonsCombined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.

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