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Case Reports
. 2021 Sep 13;2(11):CASE21296.
doi: 10.3171/CASE21296.

Multiple VHL-related hemangioblastomas and holocord syrinx: identifying the causative lesion. Illustrative case

Armin Mortazavi  1 , Diana Nwokoye  1   2 , David T Asuzu  1   2   3 , Gretchen Scott  1 , Panagiotis Mastorakos  1   3 , Prashant Chittiboina  1   2
Affiliations
Case Reports

Multiple VHL-related hemangioblastomas and holocord syrinx: identifying the causative lesion. Illustrative case

Armin Mortazavi et al. J Neurosurg Case Lessons. .

Abstract

Background: 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.

Observations: 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.

Lessons: 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.

Keywords: CNS = central nervous system; MRI = magnetic resonance imaging; POD = postoperative day; RUE = right upper extremity; VHL; VHL = von Hippel–Lindau; cyst; hemangioblastoma; syrinx; von Hippel–Lindau.

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Conflict of interest statement

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

Figures

FIG. 1.
FIG. 1.
Cervical and thoracic MRI at initial presentation. A and B: Cervical (A) and thoracic (B) T2 sagittal MRI demonstrates extensive septated syringes throughout the brainstem and spinal cord. C and D: T1 postcontrast sagittal (C) and axial (D) cervical MRI demonstrates obex (black arrowhead), brainstem (BS) rostral (white arrowhead), BS caudal (white arrow), and C3–4 (black arrow) hemangioblastomas. E and F: T1 postcontrast sagittal (E) and axial (F) thoracic MRI demonstrates left intramedullary T10 hemangioblastoma.
FIG. 2.
FIG. 2.
First operative intervention. A: Microscopic intraoperative images demonstrating right intramedullary cervical hemangioblastoma preresection (left) and postresection (right). B: Microscopic intraoperative images demonstrating rostral brainstem hemangioblastoma on cyst wall premyelotomy (left) and postmyelotomy (right).
FIG. 3.
FIG. 3.
Postoperative cyst recurrence and second operative intervention. A: Cervical T2 sagittal MRI demonstrates cyst recurrence. B: Cervical T1 postcontrast MRI demonstrates remaining caudal brainstem (BS) cyst wall hemangioblastoma. C: Microscopic intraoperative images demonstrating caudal BS hemangioblastoma on cyst wall preresection (left) and postresection (right). D: Postoperative T1 postcontrast brain MRI confirmed resection and drastically decreased cyst size. E: T1 postcontrast brain MRI 1-month postoperatively demonstrating cyst recurrence.
FIG. 4.
FIG. 4.
Postoperative cyst recurrence. A: Cervical and thoracic T2 MRI demonstrates persistent syringes from the brainstem to the conus. T1 postcontrast thoracic MRI demonstrates a T10 hemangioblastoma (white arrow). B: T1 postcontrast axial thoracic MRI demonstrates a left intramedullary T10 hemangioblastoma (white arrow).
FIG. 5.
FIG. 5.
Third operative intervention. A: Microscopic intraoperative images demonstrating a T10 intramedullary hemangioblastoma preresection (left) and postresection (right). B and C: T2 cervical and thoracic MRI on POD1 (B) and on 1-year follow-up (C) demonstrate gradual collapse of the syringes throughout the brainstem and spinal cord.
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