| 摘要: |
| 目的:提高临床医师对酪氨酸羟化酶基因(TH)突变致多巴胺反应性肌张力障碍的认识。方法:采用回顾性研究方法,分
析我院2019 年8 月至2021 年1 月诊治的4 例TH 突变致多巴胺反应性肌张力障碍患儿的临床表现、治疗随访情况及基因特
征。结果:4 例患儿均来自汉族,非亲缘关系,不同家系;男3 例,女1 例;3~6 月龄起病,均以运动发育落后起病,伴有面部表情
及自主活动减少、情绪淡漠、不规则低热、鼻腔分泌物增多、眼睑下垂,动眼危象、流涎等表现,部分有晨轻暮重特点。4 例患儿
均给予口服多巴丝肼片治疗,临床症状均有改善。4 例患儿共发现6 种突变,均为复合杂合突变,其中c. 755T>C 突变未见相关
文献报道。结论:TH 突变致多巴胺反应性肌张力障碍,多于1 岁内起病,以肌张力异常及运动发育落后为主要症状,多巴丝肼
治疗有效,早期发现并规范用药能取得较好临床效果。 |
| 关键词: 酪氨酸羟化酶基因 酪氨酸羟化酶缺乏症 多巴胺反应性肌张力障碍 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2024.04.003 |
|
| 基金项目: |
|
| Analysis of 4 Cases of Dopamine-Responsive Dystonia Induced by Tyrosine Hydroxylase Gene Mutation |
| Ji Nan, Tie Xiaoling |
| ((Xi’an Children’s Hospital Affiliated to Xi’an Jiaotong University, Xi’an 710000, China)) |
| Abstract: |
| Objective: To improve clinicians’ knowledge of dopamine-responsive dystonia induced by tyrosine hydroxylase (TH) gene
mutation. Methods: Retrospective study was conducted to analyze the clinical manifestations, treatment, follow-up and genetic
characteristics of 4 children with dopamine-responsive dystonia induced by TH mutation. Results: All 4 cases came from different
unrelated families of Han nationality in China, 3 males and 1 female, with onset at 3 to 6 months of age, all of whom had delayed motor
development, accompanied by reduced facial expression and spontaneous activity, apathy, irregular low-grade fever, increased nasal
secretions, blepharoptosis, oculomotor crisis and salivation, and some of them were characterized by morning lightness and evening
heaviness. Four cases were treated with oral levodopa and benserazide tablets, and the clinical symptoms were improved. A total of 6
variants were found in 4 cases, all of which were compound heterozygous variants, with c. 755T>C variant not reported in the relevant
literature. Conclusion: Dopamine-responsive dystonia induced by TH mutation has onset within 1 year of age, with abnormal muscle
tension and motor mental retardation as the main symptoms. Levodopa and benserazide treatment is effective, and early detection and
standardized drug treatment can achieve better clinical efficacy. |
| Key words: tyrosine hydroxylase gene tyrosine hydroxylase deficiency dopamine-responsive myotonia |
