Interstitial lung disease of infancy caused by a new NKX2-1 mutation.

Patients with personal or family history of congenital hypothyroidism, and/or neurological findings that also have chronic respiratory symptoms may have a mutation in the NKX2.1 gene as the unifying cause of their disease. Brain-lung-thyroid disease is the ensuing condition, which although rare, needs to be part of the differential diagnosis.