Brain-Lung-Thyroid Syndrome

Brain-lung-thyroid syndrome is a rare movement disorder that begins in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by low muscle tone (hypotonia) which evolves into benign hereditary chorea and ataxia, neonatal respiratory distress syndrome and/or interstitial lung disease, and congenital hypothyroidism. The scope and severity of symptoms varies widely, even within families. Treatment may include tetrabenazine and levodopa for chorea and thyroid replacement therapy for hypothyroidism. Respiratory distress symptoms and interstitial lung disease should be treated as needed. Brain-lung-thyroid syndrome is caused by mutations in the NKX2-1 gene. It is passed through families in an autosomal dominant fashion.

Brain-lung-thyroid syndrome represents the most severe expression of the NKX2-1-related disorders, with benign hereditary chorea at the milder end of the spectrum.