Lhermitte-Duclos Disease: A Case Series

Abstract

Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma, isa rare benign tumor characterized by unilateral hemispheric cerebellarexpansion. It is linked to mutations in the phosphatase and tensin homolog(PTEN) gene, which inhibit the phosphatidylinositol-3'-kinase pathway,leading to increased cell division and defective neuronal migration. Thisstudy aims to compare the clinical, radiological, histopathological,surgical resolution, and follow-up characteristics of reported cases ofthis rare condition. An in-depth search of LDD patients' clinical recordsat our institute between 2003 and 2023 was conducted, in addition to asystematic literature review on PubMed. Three patients with a diagnosis ofLDD were found. Cerebellar abnormalities, varying headaches, and visualimpairment were all present clinically. On T2 in the posterior fossa, allthree MRI scans displayed the typical hyperintense parallel streakappearance. The histopathological report showed that large ganglion cellshad replaced the granular layer, Purkinje cells had degenerated, themolecular layer had become hyper-myelinated, and synaptophysin andchromogranin were positive. Partial tumor resection and avoidingintracranial hypertension were the main goals of treatment. Geneticfollow-up was conducted for all three patients. Neurosurgeons must beaware of LDD to provide close genetic monitoring despite the benign natureof the tumor because of its link to Cowden syndrome and elevated risk ofcancer in other organs. Copyright © 2023, Monjaras-Romo et al.