A series cases of Lhermitte-Duclos disease with surgical intervention

Ziyang Chen¹Min Guo¹Xingke Li¹Cheng Lin¹Guili Feng¹Jianzhi Zhou¹Hainan Li²Baijie Chen²Lirong Liu³Linbo Cai²Lei Wang¹Hui Ouyang^1*Yanfeng Fan^1*

• ¹Department of Neurosurgery, Guangdong Sanjiu Brain Hospital, Guangzhou, China
• ²Department of Pathology, Guangdong Sanjiu Brain Hospital, Guangzhou, China
• ³Department of Rehabilitation, Guangdong Sanjiu Brain Hospital, Guangzhou, China

BACKGROUND Lhermitte–Duclos disease (LDD) is a rare dysplastic cerebellar gangliocytoma often associated with Cowden syndrome and 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 MRS and perfusion when feasible), surgery, and structured follow-up with KPS. PTEN assessment included immunohistochemistry and/or genetic testing where available. RESULTS All were female (18–53 years). Two underwent subtotal resection and one gross total resection. Characteristic "tiger-striped" MRI was present in all cases. Histopathology showed thickened molecular layer, loss of Purkinje cells, and hypertrophic ganglion-like neurons. One patient required unplanned posterior fossa decompression due to severe postoperative edema. At 6 months, two patients improved functionally while one had poor neurological outcome. PTEN testing supported association with PTEN hamartoma tumor syndrome in one case. CONCLUSION PTEN evaluation should be considered in adults with LDD, especially when clinical features suggest Cowden syndrome. Surgical management should balance extent of resection with preservation of venous outflow and cerebellar function. Non-surgical strategies (observation, stereotactic radiotherapy, and exploratory mTOR inhibition) may be options in selected scenarios. LIMITATIONS This single-center retrospective series is limited by small sample size and variable follow-up imaging.