Literature review of leukoencephalopathy with calcifications and cysts and a case report

TL;DR

This paper reviews LCC and presents a case where surgery and VEGF inhibitors helped manage symptoms and cysts.

Contribution

The study provides a case report and treatment insights for managing LCC with surgical and pharmacological approaches.

Findings

Surgical resection effectively reduced cysts and resolved symptoms in a LCC patient.

VEGF inhibitors may benefit smaller, asymptomatic LCC cysts.

Genetic testing confirmed SNORD118 variants in the patient.

Abstract

To explore the clinical features and treatment approaches for leukoencephalopathy with calcifications and cysts (LCC).

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.

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).

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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