title: Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 gene.
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.
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
authors.forename: Dan-Ni
authors.initials: DN
authors.lastname: Wang
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China Center of Neuroscience, Fujian Medical University, Fuzhou, China.
authors.forename: Wan-Jin
authors.initials: WJ
authors.lastname: Chen
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Lin
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
authors.forename: Min-Ting
authors.initials: MT
authors.lastname: Lin
authors.affiliation: Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China Center of Neuroscience, Fujian Medical University, Fuzhou, China ningwang@mail.fjmu.edu.cn.
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D020821:Dystonic Disorders / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006136:GTP Cyclohydrolase / Q000235:genetics*; D013006:Growth Hormone / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D016896:Treatment Outcome
chemical_list: D007980:Levodopa; D013006:Growth Hormone; D006136:GTP Cyclohydrolase; C000597358:Gch1 protein, mouse
keywords: dopa-responsive dystonia; growth hormone deficiency; guanosine triphosphate cyclohydrolase 1