Okamoto Kouichirou, Natsumeda Manabu, Oishi Makoto, Fujii Yukihiko
Department of Translational Research, Brain Research Institute, Niigata University.
No Shinkei Geka. 2021 Mar;49(2):395-399. doi: 10.11477/mf.1436204404.
Dysplastic cerebellar gangliocytoma or Lhermitte-Duclos disease(LDD)is a rare benign cerebellar lesion composed of dysplastic ganglion cells that conform to the existing cortical architecture. In this disease, the enlarged ganglion cells are predominantly located within the internal granular layer, and they thicken the cerebellar folia. The architecture of the affected cerebellar hemisphere with the enlarged cerebellar folia and the cystic changes, in some cases, present as "tiger-striped striations," a characteristic imaging finding that is not specific to LDD. This imaging feature may be observed in medulloblastoma and isolated cerebellar Rosai-Dorfman disease. This cerebellar lesion is a major central nervous system manifestation of Cowden syndrome, an autosomal dominant condition that causes various hamartomas and neoplasms. A molecular-based study estimated the prevalence of Cowden syndrome to be 1 case per 200,000. In a study involving 211 patients with Cowden syndrome, 32% developed LDD. LDD can be diagnosed in young children and older adults within the eighth decades of life. PTEN mutations have been identified in virtually all adult-onset LDDs, but not in childhood-onset cases.
发育异常性小脑神经节细胞瘤或Lhermitte-Duclos病（LDD）是一种罕见的小脑良性病变，由符合现有皮质结构的发育异常神经节细胞组成。在这种疾病中，增大的神经节细胞主要位于内颗粒层，使小脑小叶增厚。受累小脑半球的结构，伴有增大的小脑小叶和囊性改变，在某些情况下表现为“虎纹状条纹”，这是一种特征性影像学表现，但并非LDD所特有。这种影像学特征也可见于髓母细胞瘤和孤立性小脑Rosai-Dorfman病。这种小脑病变是考登综合征的主要中枢神经系统表现，考登综合征是一种常染色体显性遗传病，可导致各种错构瘤和肿瘤。一项基于分子的研究估计考登综合征的患病率为每20万人中有1例。在一项涉及211例考登综合征患者的研究中，32%的患者发生了LDD。LDD可在幼儿和80岁以内的老年人中诊断出来。几乎所有成人发病的LDD中都已鉴定出PTEN突变，但儿童发病的病例中未发现。
