Surgical management of spinal cord hemangioblastomas in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 106-116 ◽  
Author(s):  
Russell R. Lonser ◽  
Robert J. Weil ◽  
John E. Wanebo ◽  
Hetty L. Devroom ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Surgical Management ◽  
Postoperative Outcome ◽  
Tumor Location ◽  
Neurological Dysfunction ◽  
Autosomal Dominant Disorder ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Fine Print

Object. Von Hippel—Lindau (VHL) disease is an autosomal-dominant disorder frequently associated with hemangioblastomas of the spinal cord. Because of the slow progression, protean nature, and high frequency of multiple spinal hemangioblastomas associated with VHL disease, the surgical management of these lesions is complex. Because prior reports have not identified the factors that predict which patients with spinal cord hemangioblastomas need surgery or what outcomes of this procedure should be expected, the authors have reviewed a series of patients with VHL disease who underwent resection of spinal hemangioblastomas at a single institution to identify features that might guide surgical management of these patients. Methods. Forty-four consecutive patients with VHL disease (26 men and 18 women) who underwent 55 operations with resection of 86 spinal cord hemangioblastomas (mean age at surgery 34 years; range 20–58 years) at the National Institutes of Health were included in this study (mean clinical follow up 44 months). Patient examination, review of hospital charts, operative findings, and magnetic resonance imaging studies were used to analyze surgical management and its outcome. To evaluate the clinical course, clinical grades were assigned to patients before and after surgery. Preoperative neurological status, tumor size, and tumor location were predictive of postoperative outcome. Patients with no or minimal preoperative neurological dysfunction, with lesions smaller than 500 mm3, and with dorsal lesions were more likely to have no or minimal neurological impairment. Syrinx resolution was the result of tumor removal and was not influenced by whether the syrinx cavity was entered. Conclusions. Spinal cord hemangioblastomas can be safely removed in the majority of patients with VHL disease. Generally in these patients, hemangioblastomas of the spinal cord should be removed when they produce symptoms or signs.

The natural history of hemangioblastomas of the central nervous system in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 82-94 ◽  
Author(s):  
John E. Wanebo ◽  
Russell R. Lonser ◽  
Gladys M. Glenn ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Natural History ◽  
Mass Effect ◽  
Content Type ◽  
Von Hippel Lindau ◽  
History Of ◽  
The Central Nervous System ◽  
Brainstem Tumors ◽  
Vhl Disease ◽  
Fine Print

Object. The goals of this study were to define the natural history and growth pattern of hemangioblastomas of the central nervous system (CNS) that are associated with von Hippel—Lindau (VHL) disease and to correlate features of hemangioblastomas that are associated with the development of symptoms and the need for treatment. Methods. The authors reviewed serial magnetic resonance images and clinical histories of 160 consecutive patients with VHL disease who harbored CNS hemangioblastomas and serially measured the volumes of tumors and associated cysts. Six hundred fifty-five hemangioblastomas were identified in the cerebellum (250 tumors), brainstem (64 tumors, all of which were located in the posterior medulla oblongata), spinal cord (331 tumors, 96% of which were located in the posterior half of spinal cord), and the supratentorial brain (10 tumors). The symptoms were related to a mass effect. A serial increase in hemangioblastoma size was observed in cerebellar, brainstem, and spinal cord tumors as patients progressed from being asymptomatic to symptomatic and requiring surgery (p < 0.0001). Twenty-one (72%) of 29 symptom-producing cerebellar tumors had an associated cyst, whereas only 28 (13%) of 221 nonsymptomatic cerebellar tumors had tumor-associated cysts (p < 0.0001). Nine (75%) of 12 symptomatic brainstem tumors had associated cysts, compared with only four (8%) of 52 nonsymptomatic brainstem lesions (p < 0.0001). By the time the symptoms appeared and surgery was required, the cyst was larger than the causative tumor; cerebellar and brainstem cysts measured 34 and 19 times the size of their associated tumors at surgery, respectively. Ninety-five percent of symptom-producing spinal hemangioblastomas were associated with syringomyelia. The clinical circumstance was dynamic. Among the 88 patients who had undergone serial imaging for 6 months or longer (median 32 months), 164 (44%) of 373 hemangioblastomas and 37 (67%) of 55 tumor-associated cysts enlarged. No tumors or cysts spontaneously diminished in size. Symptomatic cerebellar and brainstem tumors grew at rates six and nine times greater, respectively, than asymptomatic tumors in the same regions. Cysts enlarged seven (cerebellum) and 15 (brainstem) times faster than the hemangioblastomas causing them. Hemangioblastomas frequently demonstrated a pattern of growth in which they would enlarge for a period of time (growth phase) and then stabilize in a period of arrested growth (quiescent phase). Of 69 patients with documented tumor growth, 18 (26%) harbored tumors with at least two growth phases. Of 160 patients with hemangioblastomas, 34 patients (median follow up 51 months) were found to have 115 new hemangioblastomas and 15 patients new tumor-associated cysts. Conclusions. In this study the authors define the natural history of CNS hemangioblastomas associated with VHL disease. Not only were cysts commonly associated with cerebellar, brainstem, and spinal hemangioblastomas, the pace of enlargement was much faster for cysts than for hemangioblastomas. By the time symptoms appeared, the majority of mass effect—producing symptoms derived from the cyst, rather than from the tumor causing the cyst. These tumors often have multiple periods of tumor growth separated by periods of arrested growth, and many untreated tumors may remain the same size for several years. These characteristics must be considered when determining the optimal timing of screening for individual patients and for evaluating the timing and results of treatment.

Comparison of anterior and posterior surgical approaches in the treatment of ventral spinal hemangioblastomas in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 117-124 ◽  
Author(s):  
Ryszard M. Pluta ◽  
Brian Iuliano ◽  
Hetty L. Devroom ◽  
Tung Nguyen ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Anterior Approach ◽  
Posterior Approach ◽  
Long Term Results ◽  
Surgical Approaches ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Ventral Spinal Cord ◽  
Fine Print

Object. Von Hippel—Lindau (VHL) disease is an autosomal-dominant neoplastic syndrome with manifestations in multiple organs, which is evoked by the deletion or mutation of a tumor suppressor gene on chromosome 3p25. Spinal hemangioblastomas (40% of VHL disease—associated lesions of the central nervous system) arise predominantly in the posterior aspect of the spinal cord and are often associated with an intraspinal cyst. Rarely, the tumor develops in the anterior aspect of the spinal cord. Ventral spinal hemangioblastomas are a surgical challenge because of difficult access and because vessels feeding the tumor originate from the anterior spinal artery. The goal of this study was to clarify whether an anterior or posterior surgical approach is better for management of hemangioblastomas of the ventral spinal cord. Methods. The authors performed a retrospective analysis of clinical outcomes and findings on magnetic resonance (MR) imaging studies in eight patients (two women and six men with a mean age of 34 ± 15 years) who underwent resection of ventral spinal hemangioblastomas (nine tumors: five cervical and four thoracic). Two surgical approaches were used to resect these tumors. A posterior approach was selected to treat five patients (laminectomy and posterior myelotomy in four patients and the posterolateral approach in one patient); an anterior approach (corpectomy and arthrodesis) was selected to treat the remaining three patients. Immediately after surgery, the ability to ambulate remained unchanged in patients in whom an anterior approach had been performed, but deteriorated significantly in patients in whom a posterior approach had been used, because of motor weakness (four of five patients) and/or proprioceptive sensory loss (three of five patients). This difference in ambulation, despite significant improvements over time among patients in the posterior access group, remained significant 6 months after surgery. In all cases, MR images revealed complete resection of the tumor and in five patients significant or complete resolution of the intramedullary cyst was demonstrated (present in six of eight patients). Conclusions. The outcomes of these eight patients with hemangioblastomas of the ventral spinal cord indicate that both immediate and long-term results are better when an anterior approach is selected for resection.

Arteriovenous fistulas of the brain and the spinal cord

1993 ◽  
Vol 79 (1) ◽  
pp. 16-27 ◽  
Author(s):  
Francis H. Tomlinson ◽  
Daniel A. Rüfenacht ◽  
Thoralf M. Sundt ◽  
Douglas A. Nichols ◽  
Nicolee C. Fode
Keyword(s):  
Spinal Cord ◽  
Imaging Techniques ◽  
Neurological Dysfunction ◽  
Arterial Aneurysm ◽  
Cerebral Lesions ◽  
Content Type ◽  
Satisfactory Outcome ◽  
Ultrasound Study ◽  
Av Fistulas ◽  
Fine Print

✓ Arteriovenous (AV) fistulas of cerebral and spinal arteries are characterized angiographically by an immediate AV transition without a capillary bed or “nidus” as occurs in AV malformations (AVM's). The clinical presentation, morphology, radiology, and treatment of 12 patients with cerebral AV fistulas and of 12 patients with spinal AV fistulas are reviewed. In the patients with cerebral lesions, headache and seizure disorders were the most common presentations followed by subarachnoid hemorrhage, cardiac failure, progressive neurological dysfunction, and incidental detection on prenatal ultrasound study. In patients with spinal AV fistulas, weakness and sensory disturbance in the lower extremities were the most frequent clinical presentations followed by back pain, disturbances of micturition, and grand mal seizure. The etiology of the symptom complex produced by AV fistulas in each of these locations differed, with venous hypertension being important in spinal cord lesions. Of the patients with cerebral lesions, nine had a single AV fistula, one had two fistulas, and two had multiple fistulas. An AVM was observed in five patients with fistulas (two large, three small). Nine patients exhibited extramedullary AV fistulas of the spine, of whom eight had a single fistula and one had three fistulas; three patients had intramedullary spinal AV fistulas. An arterial aneurysm was found in association with two fistulas, one cerebral and one spinal. Venous ectasias or varices, frequently exhibiting mural calcification, were observed to be prominent in all AV fistulas involving cerebral arteries and in two involving spinal arteries. The location and size of the venous complexes reflected the diameter of the fistula. In addition to conventional imaging techniques (cerebral angiography, computerized tomography, and magnetic resonance (MR) imaging), MR angiography was a helpful adjunct in the evaluation of fistulas. Treatment strategies employed for AV fistulas in both locations included open surgical and endovascular procedures, frequently used in combination. A satisfactory outcome was observed in all patients.

Surgical management of holocord intramedullary spinal cord astrocytomas in children

1981 ◽  
Vol 54 (6) ◽  
pp. 829-832 ◽  
Author(s):  
Fred Epstein ◽  
Nancy Epstein
Keyword(s):  
Spinal Cord ◽  
Surgical Management ◽  
Therapeutic Approach ◽  
Pediatric Patients ◽  
Radical Resection ◽  
Neurological Recovery ◽  
Total Removal ◽  
Intramedullary Spinal Cord ◽  
Content Type ◽  
Fine Print

✓ This report describes the therapeutic approach to extensive multisegmental spinal cord astrocytomas in three pediatric patients. It is concluded that radical resection (gross total removal) is compatible with neurological recovery.

Intramedullary enterogenous cyst

1972 ◽  
Vol 36 (2) ◽  
pp. 235-238 ◽  
Author(s):  
William I. Silvernail ◽  
Richard B. Brown
Keyword(s):  
Spinal Cord ◽  
Surgical Management ◽  
Enterogenous Cyst ◽  
Associated Anomalies ◽  
Content Type ◽  
Radicular Symptoms ◽  
Fine Print

✓ A congenital enterogenous cyst lying within the spinal cord in the cervicothoracic region was investigated in a patient when it began to produce radicular symptoms. Its origin, associated anomalies, and surgical management are discussed.

Spinal cord meningioma

1982 ◽  
Vol 57 (6) ◽  
pp. 804-812 ◽  
Author(s):  
Walter J. Levy ◽  
Janet Bay ◽  
Donald Dohn
Keyword(s):  
Spinal Cord ◽  
Surgical Approach ◽  
Clinical Presentation ◽  
Tumor Location ◽  
Spinal Meningioma ◽  
Content Type ◽  
High Incidence ◽  
Almost All ◽  
Cervical Tumors ◽  
Fine Print

✓ The authors present a retrospective analysis of 97 cases of spinal meningioma. Age, sex, tumor location, and clinical presentation are similar to that reported by others. Importantly, even among paraplegic patients, one-third eventually walked. Other findings of note were poor results among those with calcified or recurrent tumors, and a high incidence of invasiveness among the rare epidural lesions. Males do not show the preference for a thoracic location that is found among females, and cervical tumors are almost all anterior to the cord. This last point suggests a different surgical approach in some cases. A large percentage of cases carried other diagnoses before tumor was recognized.

Endolymphatic sac tumors in von Hippel—Lindau disease

2004 ◽  
Vol 100 (3) ◽  
pp. 480-487 ◽  
Author(s):  
Daniel Choo ◽  
Lawrence Shotland ◽  
Maryann Mastroianni ◽  
Gladys Glenn ◽  
Carter van Waes ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Family Members ◽  
Magnetic Resonance Images ◽  
Endolymphatic Sac ◽  
Specific Gene ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Fine Print

Object. Von Hippel—Lindau (VHL) disease is a hereditary multiple-neoplasia syndrome mapping to chromosome 3p25–26. Endolymphatic sac (ELS) tumors have been identified as a neoplastic manifestation of VHL disease. The purpose of this study was to evaluate comprehensively the natural history of inner ear disease in a large population of patients with confirmed or suspected VHL disease and to correlate the clinical features with the VHL genotype. Methods. The authors collated and analyzed clinical and genotypic data obtained in patients enrolled in an Institutional Review Board—approved protocol in which families and individuals affected by VHL disease were studied. These data included results from multidisciplinary history workups and physical examinations, imaging studies, and a battery of audiological tests. One hundred seventy-five patients were enrolled in the study, 129 with confirmed VHL disease and 46 of their family members in whom test results for VHL disease were negative and who served as controls. Twenty-one patients had ELS tumors that were evident on magnetic resonance images; three of them had bilateral ELS lesions. Hearing loss, often sudden in onset and severe to profound in nature, vestibulopathy, aural fullness, and tinnitus represented the primary symptoms of ELS tumor. Distinct patterns of auditory and vestibular dysfunction occurred at different stages of the disease. Phenotypic data showed that 17 of 21 patients with ELS tumors did not have pheochromocytomas, whereas all had VHL disease affecting the kidney, all but two had VHL disease affecting the central nervous system, and all but one had disease affecting the pancreas. Genotyping revealed 10 rearrangements (partial deletions), eight single bp substitutions, and one 3-bp insertion. Although there was no difference in the incidence of hearing loss between populations, symptoms of imbalance and aural fullness were more common in patients with VHL disease but without imaging evidence of ELS tumor than they were in family members who did not have VHL disease (p < 0.01). Conclusions. Endolymphatic sac tumors are frequently associated with VHL disease. Symptoms of disequilibrium or aural fullness in patients with VHL disease may be an early indication of endolymphatic dysfunction. Patients with VHL disease provide a unique opportunity to examine the effects of specific gene mutations and a discrete neoplastic process on the human inner ear. The study of ELS tumors in this group also provides a pathological model of ELS function and supplies evidence for a role of the ELS in clinical Ménière-like disease(s).

Surgical management of brainstem hemangioblastomas in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 95-105 ◽  
Author(s):  
Robert J. Weil ◽  
Russell R. Lonser ◽  
Hetty L. Devroom ◽  
John E. Wanebo ◽  
Edward H. Oldfield
Keyword(s):  
Magnetic Resonance ◽  
Preoperative Evaluation ◽  
Magnetic Resonance Images ◽  
Long Term Outcome ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Fine Print

Object. Hemangioblastomas of the brainstem constitute 5 to 10% of central nervous system (CNS) tumors in patients with von Hippel—Lindau (VHL) disease. At present, optimal management of brainstem hemangioblastomas associated with VHL disease is incompletely defined. In an attempt to clarify some of the uncertainty about the operative treatment of these lesions and its outcome, the authors reviewed all cases of VHL disease in which resection of brainstem hemangioblastomas was performed at the National Institutes of Health during a 10-year period. Methods. Twelve consecutive patients with VHL disease (six male and six female patients [mean age 31.7 ± 9 years; range 15–46 years]) who underwent 13 operations to remove 17 brainstem hemangioblastomas were included in this study (mean follow-up period, 88.4 ± 37.4 months; range 37–144 months). Serial examinations, hospital charts, magnetic resonance images, and operative records were reviewed. To evaluate clinical course, clinical grades were assigned to each patient before and after surgery. Preoperative neurological function was the best predictor of long-term outcome. In addition, patients who underwent CNS surgeries for hemangioblastomas were more likely to improve or to remain neurologically stable. Tumor or cyst size, the presence of a cyst, or the location of the tumor (intramedullary, extramedullary, or mixed; posterior medullary, obex, or lateral) did not affect outcome. No patient was neurologically worse after brainstem surgery. At long-term follow-up review (mean 88.4 months), only one patient had declined neurologically and this was due to the cumulative neurological effects caused by eight additional hemangioblastomas of the spinal cord and their surgical treatment. Conclusions. Brainstem hemangioblastomas in patients with VHL disease can be removed safely; they generally should be resected when they become symptomatic or when the tumor has reached a size such that further growth will increase the risks associated with surgery, or in the presence of an enlarging cyst. Magnetic resonance imaging is usually sufficient for preoperative evaluation and presurgical embolization is unnecessary. The goal of surgery is complete resection of the lesion before the patient experiences a disabling neurological deficit.

Endolymphatic sac tumors in patients with and without von Hippel—Lindau disease: the role of genetic mutation, von Hippel—Lindau protein, and hypoxia inducible factor-1α expression

2004 ◽  
Vol 100 (3) ◽  
pp. 488-497 ◽  
Author(s):  
Randy L. Jensen ◽  
David Gillespie ◽  
Paul House ◽  
Lester Layfield ◽  
Clough Shelton
Keyword(s):  
Gene Expression ◽  
Tumor Tissue ◽  
Hypoxia Inducible Factor ◽  
Endolymphatic Sac ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Ca Ix ◽  
Vhl Disease ◽  
Fine Print

Object. Endolymphatic sac (ELS) tumors are low-grade malignancies of the temporal bone that are associated with von Hippel—Lindau (VHL) disease but can also occur sporadically. The VHL gene product VHL protein is important in the regulation of hypoxia inducible factor (HIF)-1α, which controls expression of molecules that are important in angiogenesis and cell metabolism. In this study the authors examine the role of VHL and HIF-1 in ELS tumors. Methods. The ELS tumors from three patients were examined using the following method: DNA from tumor tissue was isolated, amplified by polymerase chain reaction and the VHL gene sequence was compared with the known wild-type sequence. Loss of heterozygosity (LOH) studies were performed to confirm the sequencing data. Immunohistochemical evaluation for VHL, HIF-1α, vascular endothelial growth factor (VEGF), and carbonic anhydrase IX (CA IX) was performed. Snap-frozen tumor tissue was examined using Western blot and HIF-1 immunoassays for HIF-1α and VHL expression. Two patients had sporadic ELS tumors and the other one suffered from VHL disease. Results of VHL gene sequencing were normal in the tissue derived from the sporadic ELS tumors. The ELS tumor, pheochromocytoma, and spinal hemangioblastoma were heterozygous for the same C-to-A transversion found in the germline carried by the patient with VHL disease. No LOH was detected in the tumor tissue obtained in the patient with VHL disease. Expression of HIF-1α, VEGF, and CA IX evaluated using immunohistochemical studies was elevated in the VHL-associated tumors. Nevertheless, Western blots and immunoassays for HIF-1α did not show elevated expression in these tumors. Conclusions. The sporadic and VHL disease—associated ELS tumors in this study had normal VHL-mediated HIF-1 regulation. This is a result of normal VHL gene expression in the case of the sporadic ELS tumor. In the VHL-associated ELS tumor, this is due to one normal copy of the VHL gene and adequate VHL gene expression.

Tumors of the endolymphatic sac in patients with von Hippel—Lindau disease: implications for their natural history, diagnosis, and treatment

2005 ◽  
Vol 102 (3) ◽  
pp. 503-512 ◽  
Author(s):  
H. Jeffrey Kim ◽  
John A. Butman ◽  
Carmen Brewer ◽  
Christopher Zalewski ◽  
Alexander O. Vortmeyer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Natural History ◽  
Tumor Resection ◽  
Endolymphatic Sac ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Cranial Nerve Dysfunction ◽  
Vestibular Symptoms ◽  
Vhl Disease ◽  
Fine Print

Object. Endolymphatic sac tumors (ELSTs), which often are associated with von Hippel—Lindau (VHL) disease, cause irreversible hearing loss and vestibulopathy. Clinical and imaging surveillance protocols provide new insights into the natural history, mechanisms of symptom formation, and indications for the treatment of ELSTs. To clarify the uncertainties associated with the pathophysiology and treatment of ELSTs, the authors describe a series of patients with VHL disease in whom serial examinations recorded the development of ELSTs. Methods. Patients with VHL disease were included if serial clinical and imaging studies captured the development of ELSTs, and the patients underwent tumor resection. The patients' clinical, audiological, and imaging characteristics as well as their operative results were analyzed. Five consecutive patients (three men and two women) with a mean age at surgery of 34.8 years and a follow-up period of 6 to 18 months were included in this study. Audiovestibular symptoms were present in three patients before a tumor was evident on neuroimaging. Imaging evidence of an intralabyrinthine hemorrhage coincided with a loss of hearing in three patients. Successful resection of the ELSTs was accomplished by performing a retrolabyrinthine posterior petrosectomy (RLPP). Hearing stabilized and vestibular symptoms resolved after surgery in all patients. No patient has experienced a recurrence. Conclusions. Audiovestibular symptoms, including hearing loss, in patients with VHL disease can be the result of microscopic ELSTs. Once an ELST has been detected, it can be completely resected via an RLPP with preservation of hearing and amelioration of vestibular symptoms. Early detection and surgical treatment of small ELSTs, when hearing is still present, should reduce the incidence and severity of hearing loss, tinnitus, vertigo, and cranial nerve dysfunction, which are associated with these tumors.

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