Mortazavi Armin, Nwokoye Diana, Asuzu David T, Scott Gretchen, Mastorakos Panagiotis, Chittiboina Prashant
Surgical Neurology Branch and.
Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland; and.
J Neurosurg Case Lessons. 2021 Sep 13;2(11):CASE21296. doi: 10.3171/CASE21296.
Brainstem and spinal cord hemangioblastomas are a common manifestation of von Hippel-Lindau (VHL) disease. Cysts and associated syringes are the most common cause of significant morbidity in these patients. Surgical treatment of symptomatic hemangioblastomas are often complicated by the presence of multiple potential lesions, leading to cyst and syrinx formation.
The authors present a case of a patient with multiple VHL-related hemangioblastomas who presented with syringobulbia and holocord syrinx. Resection of two cyst wall hemangioblastomas and one cervical hemangioblastoma only transiently improved syringobulbia. Eventual resolution of syringobulbia and collapse of the holocord syrinx only occurred following removal of a large lower thoracic hemangioblastoma.
Surgical management of hemangioblastomas and associated cysts in patients with VHL should only target lesions most likely contributing to neurological deficits as excess surgical intervention risks treatment-related morbidity. The authors illustrate how anatomical and pathophysiological considerations as well as patient symptoms are key to identifying target lesions for resection and developing deliberate treatment plans.
脑干和脊髓血管母细胞瘤是von Hippel-Lindau（VHL）病的常见表现。囊肿和相关的空洞是这些患者严重发病的最常见原因。有症状的血管母细胞瘤的手术治疗常常因存在多个潜在病变而复杂化，导致囊肿和空洞形成。
作者报告了一例患有多个与VHL相关的血管母细胞瘤的患者，该患者表现为延髓空洞症和全脊髓空洞症。切除两个囊肿壁血管母细胞瘤和一个颈段血管母细胞瘤仅使延髓空洞症得到短暂改善。延髓空洞症的最终消退和全脊髓空洞症的塌陷仅在切除一个较大的下胸段血管母细胞瘤后才出现。
VHL患者血管母细胞瘤及相关囊肿的手术治疗应仅针对最有可能导致神经功能缺损的病变，因为过度的手术干预有治疗相关发病的风险。作者阐述了解剖学和病理生理学因素以及患者症状是识别切除目标病变和制定精心治疗计划的关键。
