Thyroid transcription factor 1 deficiency syndrome
Thyroid transcription factor 1 deficiency is a situation characterized by mutations in the gene encoding thyroid transcription factor, NKX2-1.
Pathology
It can result in neurological, thyroid, and pulmonary dysfunction (including neonatal respiratory distress). Children can have a range of mild-to-severe respiratory symptoms and can occasionally die of respiratory failure .
Lung histopathology can demonstrate evidence of disrupted surfactant homeostasis in most cases and with evidence of disrupted lung growth in some cases.
Radiographic features
CT Thorax
Ground-glass opacification is considered the most common imaging feature with consolidation also being prevalent finding. Lung architectural distortion is considered less common.
See also
