2017 Articles

The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate

Gauquelin, Laurence; Tran, Luan T.; Chouinard, Sylvain; Bernard, Genevieve

Benign hereditary chorea is a rare disorder characterized by childhoodonset, non-progressive chorea, with or without associated respiratory and thyroid dysfunction.1 It is referred to as ‘‘brain-lung-thyroid’’ syndrome when all three systems are involved.2 It is caused by autosomal dominant mutations in the NKX2-1 gene (previously TITF-1), on chromosome 14.3 It is a genetically heterogeneous condition, with over 30 different causative mutations identified.4 Other neurological manifestations of benign hereditary chorea and NKX2-1-related disorders include dystonia, myoclonus, tics, tremor, dysarthria, ataxia, hypotonia, and motor developmental delay. Neuropsychiatric symptoms such as attention deficit hyperactivity disorder (ADHD), have also been reported.1,5 Pharmacologic treatment of chorea and other abnormal movements in NKX2-1-related disorders has been disappointing. It typically involves levodopa or tetrabenazine; however, side effects are often limiting.5 We report and illustrate the case of a young female patient with brain-lung-thyroid syndrome and an immediate improvement of her involuntary movements with methylphenidate (Video 1).