Ribeiro Lucas, Rigau Valérie, Bauchet Luc
Department of Neurosurgery, Gui de Chauliac Hospital, Montpellier, Occitanie, France.
Department of Neuropathology, Gui de Chauliac Hospital, Montpellier, Occitanie, France.
Surg Neurol Int. 2024 Jun 7;15:187. doi: 10.25259/SNI_104_2024. eCollection 2024.
Patients affected by Von Hippel-Lindau (VHL) are prone to develop central nervous system neoplasms such as hemangioblastomas (HBs). Myxopapillary ependymoma (MPE) is not commonly associated with VHL disease.
We present the first case of a VHL patient affected by simultaneous silent cauda equina MPE and a symptomatic conus medullaris HB. The patient was first operated for systemic tumors and followed for asymptomatic HBs. Simple surveillance was maintained until neurological symptoms appeared. Regular follow-up demonstrated objective growth of the cystic conus medullaris tumor while the cauda equina lesion remained stable. Surgery was performed to avoid further neurological worsening. Histopathological examination showed conus medullaris HB and a nearby cauda equina MPE.
Simultaneous spinal HBs and isolated MPE may exceptionally occur in VHL patients.
患有冯·希佩尔-林道（VHL）病的患者容易发生中枢神经系统肿瘤，如成血管细胞瘤（HBs）。黏液乳头型室管膜瘤（MPE）通常与VHL病无关。
我们报告首例同时患有隐匿性马尾MPE和有症状的圆锥髓内HB的VHL患者。该患者最初因全身性肿瘤接受手术，并对无症状的HBs进行随访。在出现神经症状之前一直进行简单监测。定期随访显示囊性圆锥髓内肿瘤有明显生长，而马尾病变保持稳定。为避免神经功能进一步恶化而进行了手术。组织病理学检查显示圆锥髓内HB和附近的马尾MPE。
VHL患者可能罕见地同时发生脊髓HBs和孤立性MPE。
