Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.

RATIONALE: Autosomal-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 CONCERNS: A 16-month-old Chinese boy presented with symptoms of movement disorder and growth retardation in his infant period.

DIAGNOSES: The genetic test revealed compound heterozygous mutations in the TH gene at c.457C>T and c.698G>A, which are pathogenic of DRD.

INTERVENTIONS: The patient was administrated low-dose levodopa.

OUTCOMES: The treatment resulted in the substantial improvement of dystonia. His long-term neurological outcome need follow-up for years.

LESSONS: Gene mutation analysis is helpful and necessary to diagnose DRD and has important guiding significance for the subsequent treatment.