Abstract
RATIONALE: This study aims to present a case of cerebellar dysplastic ganglioneuroma, which is commonly referred to as Lhermitte-Duclos disease (LDD). Furthermore, the study aims to provide an extensive review of the essential aspects of LDD, thereby providing essential information for its accurate diagnosis and effective treatment. PATIENT CONCERNS: A 54-year-old woman was admitted with symptoms of headache, facial numbness, and a visible cerebellar mass. Imaging studies revealed specific features such as the "tiger stripe sign" on magnetic resonance imaging, including hydrocephalus compression and abnormal vasculature. DIAGNOSES: The diagnosis of LDD was made. INTERVENTIONS: The cerebellar mass was resected via a paracentral approach. OUTCOMES: The patient underwent surgery for a cerebellar dysplastic ganglion cell tumor (WHO grade I), confirmed by postoperative pathology. Despite sub-complete resection with minor residuals, the patient experienced significant improvement in symptoms. A postoperative computed tomography scan revealed a large cavity with frontal lobe hemorrhage. PTEN gene testing was recommended but declined due to financial constraints. The patient was discharged without complications. LESSONS: LDD presents both benign and tumor characteristics, with a low likelihood of malignancy. Total resection is the recommended treatment, although challenges in complete excision may lead to recurrence. The importance of considering Cowden syndrome and genetic testing, particularly the PTEN gene, in patients with LDD, is emphasized. Long-term follow-up care is crucial for monitoring recurrence and related conditions.