| 赵海港.以帕金森综合征为首发症状的遗传性弥漫性 白质脑病合并轴索球样变1例[J].安徽医药,待发表. |
| 以帕金森综合征为首发症状的遗传性弥漫性 白质脑病合并轴索球样变1例 |
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| 投稿时间：2025-04-24 录用日期：2025-06-10 |
| DOI： |
| 中文关键词: 遗传性弥漫性白质脑病合并轴索球样变 帕金森综合征 脑白质病 |
| 英文关键词: |
| 基金项目:2023年度河南省医学科技攻关计划联合共建项目(LHGJ20230923)；2023年度许昌市重点研发与推广专项(科技攻关、软科学研究)(20230213076) |
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| 中文摘要: |
| 摘要: 目的 探究以帕金森综合征为首发症状的HDLS治疗经验。方法 总结许昌市中心医院神经内科2024年09月收治的一例以帕金森综合征为首发症状的HDLS患者的治疗经验。结果 患者1年前无明显原因出现动作缓慢，肢体僵硬等症状，多家医院按抑郁症、脑梗死、中枢神经系统血管炎诊治无明显好转，至我院神经内科就诊后，颅脑 MRI显示异常，行脑白质病相关基因检测，发现患者5号染色体CSD1R基因第20外显子存在c.2521T>C杂合性点突变，给予多巴丝肼片、金刚烷胺片改善运动症状，丁苯酞注射液改善循环、辅酶Q10注射液改善脑细胞代谢，并辅助经颅磁刺激治疗改善患者运动症状及睡眠，患者情况好转后出院。结论 临床实践中，若青年患者出现无法用常见病因解释的脑白质病变，尤其影像学显示侧脑室旁白质在DWI序列持续呈现高信号时，应高度怀疑遗传性脑白质病可能，及时开展基因检测明确诊断。 |
| 英文摘要: |
| Abstract Objective?To explore the treatment experience for hereditary diffuse leukoencephalopathy with spheroids (HDLS) presenting initially with Parkinsonian syndrome.?Methods?We summarized the treatment experience of a case of HDLS with Parkinsonian syndrome as the initial symptom admitted to the Department of Neurology, Xuchang Central Hospital in September 2024.?Results?The patient developed unexplained slowness of movement and limb rigidity one year prior. After being treated for depression, cerebral infarction, and central nervous system vasculitis at multiple hospitals with no significant improvement, the patient was referred to our department. Cranial MRI revealed abnormalities, and genetic testing for leukoencephalopathy identified a heterozygous c.2521T>C point mutation in exon 20 of the?CSF1R?gene on chromosome 5. The patient was administered Levodopa-Benserazide Tablets and Amantadine Tablets to alleviate motor symptoms, Butylphthalide Injection to improve circulation, Coenzyme Q10 Injection to enhance cerebral metabolism, and adjunctive transcranial magnetic stimulation therapy to address motor symptoms and sleep disturbances. The patient’s condition improved, and they were discharged.?Conclusion?In clinical practice, when young patients present with unexplained leukoencephalopathy—particularly with persistent hyperintensity in periventricular white matter on DWI sequences—hereditary leukoencephalopathy should be strongly suspected. Genetic testing should be promptly conducted to confirm the diagnosis. |
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