LAUSR

Co-occurrence of chorea and slow saccades is highly suggestive of Huntington ’ s disease and has only very rarely been reported in patients with other conditions, such as spinocerebellar ataxia type 2 (SCA2) 1 and neuroacanthocytosis. 2 Heterozygous loss-of-function mutations in NKX2-1 (formerly called TITF-1 ), a gene encoding a homeodomain-containing transcription factor that plays a critical role during embryogenesis of brain, thyroid, and lungs, cause childhood-onset, non-progressive or slightly progressive chorea in isolation or in variable association with other neurological problems such as dystonia, myoclonus, tremor, ataxia, hypotonia, and motor developmental delay. 3 In addition, patients with NKX2-1 mutations can have hypothyroidism and pulmonary disorders, such as neonatal respiratory distress, asthma, and interstitial lung disease. Involvement of all three systems ( “ brain-lung-thyroid syndrome ” ) has been reported in 30% to 50% of NKX2-1 mutation carriers. Recent literature has not described slow saccades as a typical feature of the neurological phenotype of NKX2-1 -related disorder. Here, we describe a case of NKX2-1 -related disorder showing a combination of chorea and slow saccades. Our patient