Literature review of leukoencephalopathy with calcifications and cysts and a case report
Chao Guan1, Huanting Li1,2, Zechen Wang1
1Qingdao University, Qingdao, China.
Objective:
To explore the clinical features and treatment approaches for leukoencephalopathy with calcifications and cysts (LCC).
Methods:
We retrospectively analyzed a 22-year-old male patient with genetically confirmed LCC admitted to Qingdao University Affiliated Hospital in April 2019. The patient's clinical presentation, imaging characteristics, treatment course, and outcomes were summarized alongside a comprehensive literature review.
Results:
The patient underwent resection of bilateral frontal lobe cysts followed later by resection of a parietal lobe cyst. Postoperative pathology confirmed LCC with calcification and cystic changes. No severe postoperative complications occurred. Follow-up imaging demonstrated gradual cyst regression and symptom resolution. Genetic testing identified heterozygous SNORD118 variants (n.3C>T and n.74G>A).
Conclusion:
Surgical resection is an effective treatment for LCC cysts causing significant mass effect or neurological deficits, requiring regular follow-up. For smaller, asymptomatic cysts without mass effect, treatment with VEGF inhibitors (e.g., bevacizumab) may be beneficial. Management should be individualized.
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