Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma, is a rare benign tumor characterized by unilateral hemispheric cerebellar expansion. 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. This study aims to compare the clinical, radiological, histopathological, surgical resolution, and follow-up characteristics of reported cases of this rare condition. An in-depth search of LDD patients' clinical records at our institute between 2003 and 2023 was conducted, in addition to a systematic literature review on PubMed. Three patients with a diagnosis of LDD were found. Cerebellar abnormalities, varying headaches, and visual impairment were all present clinically. On T2 in the posterior fossa, all three MRI scans displayed the typical hyperintense parallel streak appearance. The histopathological report showed that large ganglion cells had replaced the granular layer, Purkinje cells had degenerated, the molecular layer had become hyper-myelinated, and synaptophysin and chromogranin were positive. Partial tumor resection and avoiding intracranial hypertension were the main goals of treatment. Genetic follow-up was conducted for all three patients. Neurosurgeons must be aware of LDD to provide close genetic monitoring despite the benign nature of the tumor because of its link to Cowden syndrome and elevated risk of cancer in other organs.
Keywords: cowden syndrome; dysplastic cerebellar gangliocytoma; lhermitte-duclos disease; neurosurgery; posterior fossa.
Copyright © 2023, Monjarás-Romo et al.