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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.
DOI: 10.7754/Clin.Lab.2025.250224
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