Department of Neurosurgery, Louisiana State University, Shreveport, Louisiana, USA.
Department of Neurosurgery, Rutgers University, New Jersey, USA.
World Neurosurg. 2020 Jun;138:115-119. doi: 10.1016/j.wneu.2020.02.164. Epub 2020 Mar 6.
Nonlethal neural tube defects are developmental malformations with complex pathogenesis usually manifested at birth or in childhood.
We report the case of a 61-year-old woman without significant previous clinical history presenting for neck pain and stiffness. An extensive workup detected multiple lytic lesions within the occipital bone and cervical vertebrae, suspicious for multiple myeloma or metastatic disease. Surgical resection of the occipital bone lesions revealed ectopic cerebellar tissue, some containing folia with mature cortical lamination, and no evidence of malignancy.
To our knowledge, this study describes the oldest individual presenting with ectopic cerebellar tissue and the only instance in which oncologic workup for malignancy was carried out prior to resection. It also proposes surgical resection as a diagnostic and curative approach for this complex basicranium and neural developmental defect, and discusses retinoic acid toxicity as a possible cause of its occurrence.
非致死性神经管缺陷是一种发育性畸形,其发病机制复杂,通常在出生时或儿童期表现出来。
我们报告了一例 61 岁女性病例,无明显既往临床病史,表现为颈部疼痛和僵硬。广泛的检查发现枕骨和颈椎内有多发性溶骨性病变,疑似多发性骨髓瘤或转移性疾病。枕骨病变的手术切除显示异位小脑组织,其中一些包含有成熟皮质分层的小叶,没有恶性肿瘤的证据。
据我们所知,本研究描述了出现异位小脑组织的最年长个体,也是唯一一例在切除前进行恶性肿瘤检查的病例。它还提出了手术切除作为这种复杂颅底和神经发育缺陷的诊断和治疗方法,并讨论了维甲酸毒性可能是其发生的原因。