• Shilong Wang, Jun Li, Jiangtao Dong, Ganggang Wang, Haoxiang Xu, Licang Zhu, and Hui Xu.
• Department of Neurosurgery, The First Affiliated Hospital of Shihezi University, Shihezi, China.
• Medicine (Baltimore). 2024 Dec 13; 103 (50): e40990e40990.

RationaleThis 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 ConcernsA 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.DiagnosesThe diagnosis of LDD was made.InterventionsThe cerebellar mass was resected via a paracentral approach.OutcomesThe 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.LessonsLDD 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.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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