Stoyanov George S, Petkova Lilyana, Kondev Toni, Georgiev Radoslav, Enchev Yavor
General and Clinical Pathology, St. Marina University Hospital, Varna, BGR.
General and Clinical Pathology/Forensic Medicine and Deontology, Medical University of Varna, Varna, BGR.
Cureus. 2023 Jan 9;15(1):e33525. doi: 10.7759/cureus.33525. eCollection 2023 Jan.
Dysembryoplastic neuroepithelial tumors (DNTs) are rare neoplastic entries of the central nervous system. Conventionally DNTs are with cortical location and predominantly occur in the temporal lobe associated with epilepsy. Subtentorial DNTs are rare entries. Herein we report a case of a two-year-old female with a DNT located in the cerebellum. The patient presented clinically with new onset gait instability, headaches and strabismus. Neuroradiology revealed a heterogenous, predominantly cystic lesion in the cerebellar vermis and left cerebellar hemisphere, which was interpreted as possible medulloblastoma based on the patient profile. Frozen section neuropathology was more suggestive of a low-grade glial tumor, with conventional histology and immunohistochemistry showing an admixture of glial and neuronal cells - a complex variety of DNT. Due to the histological appearance, differential diagnosis was required with other neuroglial tumors native to the posterior fossa, such as Lhermitte-Duclos disease. There have been several such published case reports, which, although of older patients, present with similar symptoms and neuropathological findings. The complexity of the neuropathological finding in posterior fossa DNTs can lead to future separation of this entry from conventional DNT, as was seen in the past with septum pellucidum DNT, now referred to as myxoid glioneuronal tumor.
胚胎发育不良性神经上皮肿瘤（DNTs）是中枢神经系统罕见的肿瘤类型。传统上，DNTs位于皮质，主要发生在与癫痫相关的颞叶。幕下DNTs较为罕见。在此，我们报告一例两岁女性小脑DNT病例。该患者临床表现为新发步态不稳、头痛和斜视。神经放射学检查显示小脑蚓部和左小脑半球有一个不均匀的、以囊性为主的病变，根据患者情况，该病变被解读为可能是髓母细胞瘤。冰冻切片神经病理学结果更提示为低度胶质瘤，常规组织学和免疫组化显示有胶质细胞和神经元细胞混合——这是一种复杂的DNT类型。鉴于组织学表现，需要与后颅窝其他神经胶质肿瘤进行鉴别诊断，如Lhermitte-Duclos病。已有数篇此类病例报告发表，尽管患者年龄较大，但症状和神经病理学发现相似。后颅窝DNTs神经病理学发现的复杂性可能导致该类型肿瘤未来与传统DNT区分开来，就像过去透明隔DNT现在被称为黏液样胶质神经元肿瘤那样。
