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ABSTRACT: Background
Lhermitte-Duclos disease (LDD) is a rare dysplastic cerebellar gangliocytoma often associated with Cowden syndrome and phosphatase and tensin homolog (PTEN) alterations. We report a three-case series focusing on imaging, histopathology, PTEN testing, surgical decision-making, and outcomes.Method
We retrospectively identified three adults with LDD who underwent standardized preoperative imaging [including magnetic resonance spectroscopy (MRS) and perfusion when feasible], surgery, and structured follow-up with Karnofsky Performance Status (KPS). PTEN assessment included immunohistochemistry and/or genetic testing where available.Results
All patients in this case series were women (18-53 years). Two underwent subtotal resection and one underwent gross total
SUBMITTER: Chen Z
PROVIDER: S-EPMC12588853 | biostudies-literature | 2025
REPOSITORIES: biostudies-literature