Lakicevic Goran, Tinjak-Demic Selma, Lakicevic Sandra, Frol Senta, Splavski Bruno
Department of Neurosurgery, Mostar University Clinical Hospital, Mostar, Bosnia and Herzegovina.
Department of Neurology, Mostar Cantonal Hospital, Mostar, Bosnia and Herzegovina.
Brain Spine. 2025 Apr 25;5:104258. doi: 10.1016/j.bas.2025.104258. eCollection 2025.
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 gene. Such a mutation can originate malignant and benign tumors, including dysplastic gangliocytoma of the posterior cranial fossa.
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.
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 mutation characteristic for Cowden syndrome.
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.
Lhermitte-Duclos病是神经节细胞瘤的一种罕见亚型，是一种发生于小脑的良性肿瘤，常与考登综合征相关，考登综合征是一种散发的遗传性多形性疾病，以常染色体显性方式遗传，由该基因的有害突变引起。这种突变可引发恶性和良性肿瘤，包括后颅窝发育异常性神经节细胞瘤。
我们呈现了过去几年中遇到并进行手术治疗的两例Lhermitte-Duclos病的典型病例。我们还对Lhermitte-Duclos病和考登综合征的外科治疗进行了系统的文献综述。
两名患者均为年轻女性，主诉枕部头痛，脑部MRI显示单侧局限性小脑萎缩以及后颅窝的占位性病变，T2加权像上有特征性的条纹状高信号，类似虎皮。两人均因后颅窝发育异常性神经节细胞瘤成功接受手术，术后病理证实为Lhermitte-Duclos病。其中一名患者的基因检测证实了考登综合征的特征性突变。
早期诊断、基因检测和密切监测对于增进对Lhermitte-Duclos病及其与考登综合征可能关联的认识至关重要，以降低其他器官和有机系统发生恶性肿瘤的风险。在出现神经症状时需要进行后颅窝减压手术，以缓解占位效应并提供组织样本进行进一步分析，确保取得良好疗效。
