20.500.12556/DiRROS-28051 Two illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management Background Lhermitte-Duclos disease is a rare subtype of gangliocytoma, a benign tumor growth in the cerebellum often associated with Cowden syndrome, a sporadic genetic pleomorphic disorder that is inherited in an autosomal dominant manner and caused by a harmful mutation in the PTEN gene. Such a mutation can originate malignant and benign tumors, including dysplastic gangliocytoma of the posterior cranial fossa. Methods We present two illustrative cases of Lhermitte-Duclos disease that we encountered and surgically treated during the last few years. We also performed a systematic literature review concerned with the surgical management of Lhermitte-Duclos disease and Cowden syndrome. Results Both patients were young females complaining of occipital headaches and underwent brain MRIs that revealed unilateral discrete cerebellar atrophy and expansive lesions of the posterior cranial fossa with characteristic striate T-2 weighted hyperintensity resembling tiger fur. They were both successfully operated on due to the posterior fossa dysplastic gangliocytoma, which was histopathologically confirmed as Lhermitte-Duclos disease. In one patient, genetic testing confirmed a PTEN mutation characteristic for Cowden syndrome. Conclusion Early diagnosis, genetic testing, and close monitoring are obligatory to enhance the knowledge of Lhermitte-Duclos disease and its probable association with Cowden syndrome to decrease the risk of malignancy of other organs and organic systems. Surgical posterior fossa decompression is required at the onset of neurological symptoms to relieve the mass effect and provide tissue samples for further analysis, ensuring a favorable outcome. cases Lhermitte-Duclos nevrokirurgija true false true Angleški jezik Ni določen Neznano 2026-03-09 10:31:28 2026-03-09 10:31:29 2026-03-10 03:52:28 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 28. 5. 2025; 6 str. [article no.] ǂ104258 Vol. 5 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.8-089 2772-5294 10.1016/j.bas.2025.104258 237481987 RAZ_Lakicevic_Goran_2025.pdf RAZ_Lakicevic_Goran_2025.pdf 1 F2BDB0497327F30F273A614925F1460F 46b4220ce7d8ccdb9804e244960730503501864952c07480db35234321e8987c f9033b56-1b9a-11f1-b779-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41414 https://www.sciencedirect.com/science/article/pii/S2772529425000773 1 c0dced8b-1b9a-11f1-b779-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41413 Univerzitetni klinični center Ljubljana 0 0 0