Kolhe Ashvini Amol, Shenoy Asha, Tayal Shubhra, Goel Naina Atul
Department of Pathology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.
J Neurosci Rural Pract. 2023 Jan-Mar;14(1):127-131. doi: 10.25259/JNRP-2022-3-10. Epub 2023 Jan 2.
The Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare lesion characterized by variable enlargement of cerebellar folia. The pathological basis of LDD has long been debated, as it has overlapping features of both, a neoplasm and hamartoma. Association between LDD and Cowden syndrome (CS) has been established based on the presence of phosphatase and tensin homologue germline mutation in both. We present a series of six cases of LDD: Four females and two males, aged between 16 and 38 years, presenting with headache and imbalance on walking of 1-7 months duration. Histomorphology showed thickening and vacuolation of the molecular layer, loss of Purkinje cells, and replacement of granular cell layer by large dysplastic ganglion cells. Awareness of histological features of this rare entity and a higher level of suspicion is required for the correct diagnosis, which, in turn, should prompt thorough investigations to exclude features of associated CS. LDD is a rare entity, awareness of its histological features and correlating them with radiology is essential, especially in tiny biopsies; to render the correct diagnosis. Diagnosis of LDD warrants further clinical workup and close follow-up for the associated features of CS.
Lhermitte-Duclos病（LDD），也称为发育异常性小脑神经节细胞瘤，是一种罕见的病变，其特征为小脑小叶不同程度增大。LDD的病理基础长期以来一直存在争议，因为它同时具有肿瘤和错构瘤的重叠特征。基于两者中均存在磷酸酶和张力蛋白同源基因系突变，已确立了LDD与考登综合征（CS）之间的关联。我们报告了一系列6例LDD病例：4例女性和2例男性，年龄在16至38岁之间，表现为持续1至7个月的头痛和行走不稳。组织形态学显示分子层增厚和空泡化、浦肯野细胞缺失以及颗粒细胞层被大的发育异常的神经节细胞取代。正确诊断需要认识到这种罕见实体的组织学特征并提高怀疑程度，这反过来又应促使进行全面检查以排除相关CS的特征。LDD是一种罕见实体，认识其组织学特征并将其与放射学表现相关联至关重要，尤其是在微小活检中；以做出正确诊断。LDD的诊断需要进一步的临床检查并对CS的相关特征进行密切随访。
