SCIENCE@home

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

L. Gauquelin,L. Tran,S. Chouinard,G. Bernard

Published 2017 in Tremor and Other Hyperkinetic Movements

ABSTRACT

Benign hereditary chorea is a rare disorder characterized by childhood-onset, 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). Video 1 Download video file.(11M, mp4) Immediate Improvement of the Involuntary Movements with Methylphenidate. The patient executed the following tasks prior to and 30 minutes after methylphenidate hydrochloride administration: running, performing rapid alternating movements, pouring water into a cup, and writing a series of loops with her dominant hand. There was a significant reduction in her choreic movements and dystonic postures, especially in the limbs. All tasks were carried out faster and with more precision after receiving her medication. Methods We obtained written informed consent from the subject and legal representative under a study approved by the ethics committee of the Montreal Children’s Hospital. We performed a retrospective chart review and assessed the patient before and after methylphenidate hydrochloride ingestion.

PUBLICATION RECORD

CITATION MAP

EXTRACTION MAP

CLAIMS

  • No claims are published for this paper.

CONCEPTS

  • No concepts are published for this paper.

REFERENCES

Showing 1-13 of 13 references · Page 1 of 1

CITED BY

Showing 1-7 of 7 citing papers · Page 1 of 1