The first reported case of Labrune syndrome in Vietnam with 4-year longitudinal follow-up: illustrative case.

backgroundLabrune syndrome, also known as leukoencephalopathy with cerebral calcifications and cysts (LCC), is a rare autosomal recessive cerebral microangiopathy. Because of its rarity and microangiopathic pathology of recurrent cysts, no curative treatment is available, which makes long-term management challenging for clinicians. OBSERVATIONS: A 34-year-old woman born to consanguineous parents presented in 2022 with chronic headache and blurred vision. Imaging revealed diffuse leukoencephalopathy, intracranial calcifications, and multiple parenchymal cysts, with a dominant left hemispheric lesion causing mass effect. She underwent left-sided cyst decompression with good symptomatic relief, followed-up by imaging surveillance. Three years later, she developed recurrent headache and worsening vision. Imaging demonstrated enlargement of a right-sided cyst with significant midline shift. Right-sided decompression surgery again improved her symptoms. Histopathological specimens from both surgeries showed no neoplasia; additionally, the second specimen demonstrated gliosis and hyalinized microvasculature. Subsequent genetic testing identified a novel homozygous SNORD118 variant, supporting the LCC diagnosis. LESSONS: This case highlights that LCC diagnosis is supported by radiological findings, pathological features, and SNORD118 genetic findings. Additionally, long-term follow-up is essential due to metachronous enlargement of cysts, and repeat decompressions could provide symptomatic relief. https://thejns.org/doi/10.3171/CASE26650.