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.
Keywords: Cowden syndrome; Lhermitte-Duclos disease; Posterior fossa dysplastic gangliocytoma; Surgical management.
© 2025 The Authors.
