Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene. (May 2015)

• Record Type: Journal Article
• Authors: Lin, Yu; Wang, Dan-Ni; Chen, Wan-Jin; Lin, Xiang; Lin, Min-Ting; Wang, Ning
• Is Part Of: Journal of child neurology. Volume 30:Number 6(2015:Jul.)
• Page Start: 796
• Page End: 799
• Publication Date: 2015-05
• Subjects: growth hormone deficiency -- dopa-responsive dystonia -- guanosine triphosphate cyclohydrolase 1; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073814538498
• Languages: English
• ISSNs: 0883-0738

Abstract

Dopa-responsive dystonia is a rare hereditary movement disorder caused by mutations in the guanosine triphosphate cyclohydrolase 1 ( GCH1 ) gene. This disease typically manifests in dystonia, with marked diurnal fluctuation and a dramatic response to levodopa. However, growth retardation in dopa-responsive dystonia has rarely been reported, and the etiology of short stature is not clarified. Here, we report a 14-year-old patient with extremities dystonia and short stature. Treatment with levodopa relieved his symptoms and resulted in a height increase. We also investigated the mutation in GCH1 and the etiology of short stature in this case. Sequence analysis of GCH1 revealed a novel mutation (c.695G>T). Laboratory examinations and imaging confirmed the diagnosis of growth hormone deficiency. We conclude that our case reveals a rare feature for dopa-responsive dystonia and suggests a possible pathogenic link between growth hormone deficiency and dopa-responsive dystonia. We recommend levodopa as the first choice for treating dopa-responsive dystonia in children with growth hormone deficiency.