2021 Volume 53 Issue 1 Pages 44-48
Brain-lung-thyroid syndrome (BLTS) is a rare disease often associated with movement disorders such as chorea and is characterized by lesions in the brain, lung, and thyroid gland. A 3-year-old boy had ataxic gait and stuttering, but did not have chorea. He had a history of respiratory disorders and congenital hypothyroidism in infancy. BLTS was suspected based on his medical history and medical examination findings, and sequencing of candidate genes for hypothyroidism identified a de novo nonsense mutation c.664G>T in the NKX2-1 gene. Our findings suggest that, when respiratory disorders and congenital hypothyroidism coexist, it is important to suspect BLTS and consider neurological symptoms in addition to chorea.
