• Bangzhe Feng, Guangfei Sun, Qingxia Kong, and Qiubo Li.
• Cheeloo College of Medicine, Shandong University, Jinan, Shandong.
• Medicine (Baltimore). 2018 Nov 1; 97 (44): e12870e12870.

RationaleAutosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein.Patient ConcernsA 16-month-old Chinese boy presented with symptoms of movement disorder and growth retardation in his infant period.DiagnosesThe genetic test revealed compound heterozygous mutations in the TH gene at c.457C>T and c.698G>A, which are pathogenic of DRD.InterventionsThe patient was administrated low-dose levodopa.OutcomesThe treatment resulted in the substantial improvement of dystonia. His long-term neurological outcome need follow-up for years.LessonsGene mutation analysis is helpful and necessary to diagnose DRD and has important guiding significance for the subsequent treatment.

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