Two cases of tyrosine hydroxylase deficiency with different phenotypes
10.3760/cma.j.cn101070-20190705-00602
- VernacularTitle:表型不同的酪氨酸羟化酶缺乏症2例
- Author:
Changjian YANG
1
;
Wenting LEI
;
Xiaohua YU
;
Xiaomei SHU
Author Information
1. 遵义医科大学附属医院儿科，贵州 遵义 563003
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(19):1509-1511
- CountryChina
- Language:Chinese
-
Abstract:
The clinical characteristics, diagnosis and treatment, and the gene mutation of 2 different phenotypes patients developed with tyrosine hydroxylase deficiency (THD) were retrospectively analyzed.Case 1 was a severe infantile parkinsonism accompanied with motor retardation, which started with psychomotor retardation without dystonia in infantile period.Clinical symptoms were fluctuating.Case 2 was a mild dopa-responsive dystonia, which started with progressive lower extremity dystonia in school age.The genetic study revealed that both patients had heterozygous mutations in tyrosine hydroxylase ( TH) gene.Case 1 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 698G>A (maternal). Case 2 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 1481C>T (maternal). Both patients dramatically improved after the treatment with Levodopa.THD should be considered in any children with or without mental retardation presenting with fluctuations symptoms or fluc-tuations dyskinesia.Genetic testing is the most important diagnostic method.
