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

Medicine (Baltimore). 2018 Nov;97(44):e12870. doi: 10.1097/MD.0000000000012870.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Asian People / genetics
  • Dystonic Disorders / congenital*
  • Dystonic Disorders / drug therapy
  • Dystonic Disorders / genetics
  • Genetic Testing
  • Heterozygote
  • Humans
  • Infant
  • Levodopa / therapeutic use*
  • Male
  • Mutation
  • Tyrosine 3-Monooxygenase / genetics*

Substances

  • Levodopa
  • Tyrosine 3-Monooxygenase

Supplementary concepts

  • Segawa syndrome, autosomal recessive