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

**Authors:** Chao Guan, Huanting Li, Zechen Wang, Jie Wu, Yunqing Chen, Yugong Feng, Zhenwen Cui, Chen Shen, Pin Guo

PMC · DOI: 10.3389/fnins.2026.1686818 · 2026-01-16

## 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.

## Key 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.

## Linked entities

- **Genes:** SNORD118 (small nucleolar RNA, C/D box 118) [NCBI Gene 727676]
- **Diseases:** leukoencephalopathy with calcifications and cysts (MONDO:0013803), LCC (MONDO:0013803)

## Full-text entities

- **Genes:** SNORD118 (small nucleolar RNA, C/D box 118) [NCBI Gene 727676] {aka LCC, U8}, VEGFA (vascular endothelial growth factor A) [NCBI Gene 7422] {aka L-VEGF, MVCD1, VEGF, VPF}
- **Diseases:** leukoencephalopathy (MESH:D056784), calcifications and cysts (MESH:D003560), LCC (MESH:C000598644), neurological deficits (MESH:D009461), calcification (MESH:D002114)
- **Chemicals:** bevacizumab (MESH:D000068258)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** n.3C>T, n.74G>A

## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12855398/full.md

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Source: https://tomesphere.com/paper/PMC12855398