Chediak-Higashi Syndrome: a Comprehensive Case Report and Literature Review.

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Clinical laboratory Pub Date : 2025-04-01 DOI:10.7754/Clin.Lab.2025.250224

Rui Deng, Jiangyang Zhao, Jiahui Liang, Mingyi Li, Zuoxin Deng, Xuehua Hu, Chunhua Lan

{"title":"Chediak-Higashi Syndrome: a Comprehensive Case Report and Literature Review.","authors":"Rui Deng, Jiangyang Zhao, Jiahui Liang, Mingyi Li, Zuoxin Deng, Xuehua Hu, Chunhua Lan","doi":"10.7754/Clin.Lab.2025.250224","DOIUrl":null,"url":null,"abstract":"Background: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, immune dysfunction, and neurologic abnormalities.Methods: This paper aims to provide a detailed understanding of the clinical presentation, laboratory examination, genetic basis, EEG/MRI, diagnostic challenges, and current management strategies for CHS through a new case report and a analysis of the current literature.Results: The analysis of the case report and literature indicates that CHS requires vigilant clinical observation for early diagnosis and effective treatment. The analysis highlights the necessity for advanced therapies that are both more efficient and cost-effective, given the current limitations in treatment options.Conclusions: The study concludes that further research is needed to develop more efficient and economical therapies for CHS that can enhance patient outcomes. The development of such therapies will be crucial in addressing the unmet needs of patients with this rare genetic disorder.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 4","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2025.250224","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, immune dysfunction, and neurologic abnormalities.

Methods: This paper aims to provide a detailed understanding of the clinical presentation, laboratory examination, genetic basis, EEG/MRI, diagnostic challenges, and current management strategies for CHS through a new case report and a analysis of the current literature.

Results: The analysis of the case report and literature indicates that CHS requires vigilant clinical observation for early diagnosis and effective treatment. The analysis highlights the necessity for advanced therapies that are both more efficient and cost-effective, given the current limitations in treatment options.

Conclusions: The study concludes that further research is needed to develop more efficient and economical therapies for CHS that can enhance patient outcomes. The development of such therapies will be crucial in addressing the unmet needs of patients with this rare genetic disorder.

查看原文本刊更多论文

Chediak-Higashi综合征：综合病例报告及文献回顾。

背景：Chediak-Higashi综合征（CHS）是一种罕见的常染色体隐性遗传病，以皮肤白化病、免疫功能障碍和神经系统异常为特征。方法：本文旨在通过一篇新病例报告和文献分析，详细了解CHS的临床表现、实验室检查、遗传基础、脑电图/MRI、诊断挑战和当前管理策略。结果：通过对病例报告和文献的分析，提示CHS需要警惕的临床观察，早期诊断和有效治疗。该分析强调，鉴于目前治疗选择的局限性，有必要开发更有效和更具成本效益的先进疗法。结论：该研究得出结论，需要进一步研究以开发更有效和更经济的治疗CHS的方法，以提高患者的预后。这种疗法的发展对于解决这种罕见遗传疾病患者的未满足需求至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.