scholarly journals Intradural extramedullary hemangioblastoma of the thoracic cord: A case report

2021 ◽  
Vol 12 ◽  
pp. 126
Author(s):  
Masahiro Kawanishi ◽  
Hidekazu Tanaka ◽  
Yutaka Itoh ◽  
Kunio Yokoyama ◽  
Makoto Yamada ◽  
...  
Keyword(s):  
Rare Case ◽  
Spinal Cord Tumors ◽  
Lower Extremity Weakness ◽  
Tumor Excision ◽  
Von Hippel Lindau ◽  
Left Lower Extremity ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
Intradural Extramedullary ◽  
Thoracic Cord

Background: Spinal hemangioblastomas account for 1–3% of all spinal cord tumors and are mostly intramedullary in location. Here, we report an intradural extramedullary hemangioblastoma of the thoracic spine, occurring in in a patient without von Hippel-Lindau disease. Case Description: A 58-year-old female had a 5-year history of progressive left lower extremity weakness. When the MR demonstrated an intradural/extramedullary lesion with a syrinx at the T2-3 level, she successfully underwent gross total tumor excision following which she neurologically improved. Conclusion: Here, we report a rare case of an intradural/extramedullary thoracic hemangioblastoma successfully excised at the T 2-3 level in a patient without von Hippel-Lindau disease.

scholarly journals Sacral hemangioblastoma in a patient with von Hippel–Lindau disease

2003 ◽  
Vol 15 (2) ◽  
pp. 1-4 ◽  
Author(s):  
Ryszard M. Pluta ◽  
Scott D. Wait ◽  
John A. Butman ◽  
Kathleen A. Leppig ◽  
Alexander O. Vortmeyer ◽  
...  
Keyword(s):  
Nerve Root ◽  
Histopathological Diagnosis ◽  
Resonance Imaging ◽  
Nerve Roots ◽  
Von Hippel Lindau ◽  
Sacral Nerve ◽  
Left Lower Extremity ◽  
History Of ◽  
Von Hippel Lindau Disease

Hemangioblastomas are histologically benign neoplasms that occur sporadically or as part of von Hippel–Lindau disease. Hemangioblastomas may occur anywhere along the neuraxis, but sacral hemangioblastomas are extremely rare. To identify features that will help guide the operative and clinical management of these lesions, the authors describe the management of a large von Hippel–Lindau disease–associated sacral hemangioblastoma and review the literature. The authors present the case of a 38-year-old woman with von Hippel–Lindau disease and a 10-year history of progressive back pain, as well as left lower-extremity pain and numbness. Neurological examination revealed decreased sensation in the left S-1 and S-2 dermatomes. Magnetic resonance imaging demonstrated a large enhancing lesion in the sacral region, with associated erosion of the sacrum. The patient underwent arteriography and embolization of the tumor and then resection. The histopathological diagnosis was consistent with hemangioblastoma and showed intrafascicular tumor infiltration of the S-2 nerve root. At 1-year follow-up examination, pain had resolved and numbness improved. Sacral nerve root hemangioblastomas may be safely removed in most patients, resulting in stabilization or improvement in symptomatology. Generally, hemangioblastomas of the sacral nerve roots should be removed when they cause symptoms. Because they originate from the nerve root, the nerve root from which the hemangioblastoma originates must be sacrificed to achieve complete resection.

Hemangioblastoma diagnosis and surveillance in von Hippel–Lindau disease: a consensus statement

2021 ◽  
pp. 1-6
Author(s):  
Kristin Huntoon ◽  
Matthew J. Shepard ◽  
Rimas V. Lukas ◽  
Ian E. McCutcheon ◽  
Anthony B. Daniels ◽  
...  
Keyword(s):  
Age At Onset ◽  
Benign Tumors ◽  
Expert Committee ◽  
Level Of Evidence ◽  
Von Hippel Lindau ◽  
Assessment Development ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Cancer Network

OBJECTIVE Hemangioblastomas are a frequent underlying cause of neurological morbidity and death in patients with von Hippel–Lindau disease (VHL). Although these benign tumors can cause significant neurological debility when undetected and untreated, unified evidence-based surveillance recommendations for VHL patients have not been established. To develop consensus recommendations, the VHL Alliance established an expert committee, named the International VHL Surveillance Guidelines Consortium, to define surveillance recommendations. METHODS The Central Nervous System (CNS) Hemangioblastoma Subcommittee of the Guidelines Consortium was formed as a multidisciplinary team of experts in the diagnosis and management of hemangioblastomas. Recommendations were formulated using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) and National Comprehensive Cancer Network Categories of Evidence and Consensus categorization after a comprehensive literature review. RESULTS Published studies (n = 49) that discussed age at onset, MRI frequency, natural history of VHL, and the risks and benefits of surveillance were analyzed. Based on this analysis, the authors recommend that clinical evaluation (yearly) be used as the primary screening tool for hemangioblastomas in VHL. The subcommittee suggests that screening be performed between the ages of 11 and 65 years, or with the onset of symptoms, for synchronicity with other testing regimens in VHL. The subcommittee also recommends that baseline MRI be first performed at the age of 11 years (suggested 2B, level of evidence D) or after identification of neurological symptoms or signs (if earlier) and continue every 2 years (recommended 2A, level of evidence A). CONCLUSIONS The CNS Hemangioblastoma Subcommittee of the International VHL Surveillance Guidelines Consortium here proposes guidelines that aim to increase the early detection of VHL-associated hemangioblastomas to reduce their morbidity and mortality.

scholarly journals A RARE CASE OF SPORADIC SUPRATENTORIAL HEMANGIOBLASTOMA

2020 ◽  
pp. 57-63
Author(s):  
V. E. Kocharyan ◽  
T. G. Sarkisyan ◽  
G. I. Kovalev ◽  
G. G. Muzlaev ◽  
A. I. Bogrov
Keyword(s):  
World Literature ◽  
Rare Case ◽  
Benign Tumor ◽  
Tumor Resection ◽  
Von Hippel Lindau ◽  
Dense Networks ◽  
Rare Benign Tumor ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
The Brain

We report the rare case of 65-year-old male patient with supratentorial hemangioblastoma and gigantic cyst of the left hemisphere of the brain without von Hippel-Lindau disease. Hemangioblastoma is a rare benign tumor classified as grade I by the WHO of the central nervous system of uncertain histogenesis. This neoplasm’s stroma consists of dense networks of thin-walled blood vessels of various calibers. About 140 cases of supratentorial localization of this type of tumor are presented in the world literature. We have given a fairly complete clinical, neuroradiological and histological picture that allows one to differentiate hemangioblastoma from other histological structures. Promising modalities in the treatment of patients with this pathology when it is impossible to perform total tumor resection are considered.

scholarly journals von Hippel-Lindau Disease: an Update

2019 ◽  
Vol 7 (4) ◽  
pp. 227-235 ◽  
Author(s):  
Eamonn R Maher ◽  
Richard N Sandford
Keyword(s):  
Natural History ◽  
Patient Outcomes ◽  
Molecular Characterisation ◽  
Von Hippel Lindau ◽  
Functional Characterisation ◽  
History Of ◽  
Vhl Protein ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease ◽  
Improve Patient

Abstract Purpose of Review In this review, we discuss the key molecular and clinical developments in VHL disease that have the potential to impact on the natural history of the disease and improve patient outcomes. Recent Findings Identifiable mutations in VHL underlie most cases of VHL and define clear genotype-phenotype correlations. Detailed clinical and molecular characterisation has allowed the implementation of lifelong screening programmes that have improved clinical outcomes. Functional characterisation of the VHL protein complex has revealed its role in oxygen sensing and the mechanisms of tumourigenesis that are now being exploited to develop novel therapies for VHL and renal cancer. Summary The molecular and cellular landscape of VHL-associated tumours is revealing new opportunities to modify the natural history of the disease and develop therapies. Drugs are now entering clinical trials and combined with improved clinical and molecular diagnosis, and lifelong surveillance programmes, further progress towards reducing the morbidity and mortality associated with VHL disease is anticipated.

Neurocytoma of the cauda equina

1999 ◽  
Vol 90 (2) ◽  
pp. 247-251 ◽  
Author(s):  
Christina L. Stephan ◽  
John J. Kepes ◽  
Paul Arnold ◽  
K. Douglas Green ◽  
Fran Chamberlin
Keyword(s):  
Magnetic Resonance ◽  
Nerve Root ◽  
Magnetic Resonance Image ◽  
Cauda Equina ◽  
Pertinent Literature ◽  
Lower Extremity Weakness ◽  
Content Type ◽  
Left Lower Extremity ◽  
History Of ◽  
Fine Print

✓ A case of a neurocytoma involving a nerve root of the cauda equina in a 46-year-old woman is reported. The patient presented with a 2-month history of progressive left lower-extremity weakness and pain and decreased ability to walk, as well as complaints of incomplete voiding. A magnetic resonance image revealed a 7-mm oval mass that was located intrathecally and extended from T-12 to L-1 and was adjacent to a nerve root. No lesions were identified at higher vertebral levels. The mass was excised. On histological examination it was found to have classical features of a neurocytoma. To the best of the authors' knowledge, this is the first report of a neurocytoma occurring in that region. A detailed histological description of this case and review of the pertinent literature are provided.

Papillary adenoma of endolymphatic sac origin: a temporal bone tumor in von Hippel—Lindau disease

1997 ◽  
Vol 87 (3) ◽  
pp. 445-449 ◽  
Author(s):  
Jean-Christophe Ouallet ◽  
Kathlyn Marsot-Dupuch ◽  
Remy Van Effenterre ◽  
Michele Kujas ◽  
Jean-Michel Tubiana
Keyword(s):  
Temporal Bone ◽  
Imaging Techniques ◽  
Endolymphatic Sac ◽  
Cystic Tumor ◽  
Content Type ◽  
Von Hippel Lindau ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
Magnetic Resonance Imaging Techniques ◽  
Temporal Bone Tumor

✓ This report describes a patient with von Hippel—Lindau disease who presented with an 8-year history of a slow-growing, locally invasive vascularized lesion of the temporal bone involving the cerebellopontine angle. The mass, studied by computerized tomography scanning and magnetic resonance imaging techniques, was partly cystic in appearance. After removal of the mass, pathological studies confirmed a papillary cystic tumor with characteristics that have been described in tumors with an endolymphatic sac origin. These rare neoplasms constitute a distinct pathological entity and deserve wider recognition.

Clinical Features and Natural History of von Hippel-Lindau Disease

QJM ◽  
1990 ◽  
Vol 77 (2) ◽  
pp. 1151-1163 ◽  
Author(s):  
E. R. MAHER ◽  
J. R. W. YATES ◽  
R. HARRIES ◽  
C. BENJAMIN ◽  
R. HARRIS ◽  
...  
Keyword(s):  
Natural History ◽  
Clinical Features ◽  
Von Hippel Lindau ◽  
History Of ◽  
Von Hippel Lindau Disease

Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease

2017 ◽  
Vol 102 (7) ◽  
pp. 942-947 ◽  
Author(s):  
Marie Louise Mølgaard Binderup ◽  
Anne-Sophie Stendell ◽  
Michael Galanakis ◽  
Hans Ulrik Møller ◽  
Jens F Kiilgaard ◽  
...  
Keyword(s):  
National Study ◽  
Research Database ◽  
Von Hippel Lindau ◽  
Younger Age ◽  
National Patient ◽  
National Cohort ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
Almost All ◽  
Retinal Hemangioblastoma

Background and aimsWe aimed to determine the frequency of von Hippel-Lindau disease (vHL) as the underlying cause of retinal hemangioblastoma and to estimate retinal hemangioblastoma incidence and prevalence in a national cohort study.MethodsThrough the national patient register and vHL research database, we identified 81 patients diagnosed with a retinal hemangioblastoma in Denmark between 1977 and 2014. Consent was obtained for 54 living and 10 deceased patients with retinal hemangioblastoma. For each participant, we collected medical records and family information. Almost all (63 of 64) participants were or had previously been tested for mutations in the VHL gene.ResultsOverall, 84% of the participants (54 of the 64) had vHL. Compared with the non-vHL patients, the vHL patients had their first retinal hemangioblastoma at a younger age (22.5 vs 40 years), and were more likely to have an asymptomatic first hemangioblastoma (80% vs 20%). Overall, 76% (41 of 54) of the vHL patients had a family history of vHL, while none of the patients without vHL did. Despite the rarity of the disease, on average more than eight new tumours are diagnosed each year due to multiple tumour development in vHL patients. The estimated prevalence of patients with retinal hemangioblastoma was up to 1 in 73 080 individuals.ConclusionIn the first national study in which almost all participants were genetically tested, vHL was the underlying cause of retinal hemangioblastoma in 84% of cases; more often than previously reported. We recommend that genetic and clinical vHL screening should be performed in all patients with retinal hemangioblastoma.

scholarly journals A von Hippel-Lindau Disease–Associated Microcystic Adenoma of the Ethmoid Sinus: Case Report

Neurosurgery ◽  
2011 ◽  
Vol 69 (4) ◽  
pp. E1017-E1022 ◽  
Author(s):  
David S Xu ◽  
Michael S Dirks ◽  
Martha M Quezado ◽  
Irina A Lubensky ◽  
Zhengping Zhuang ◽  
...  
Keyword(s):  
Immunohistochemical Analysis ◽  
Cranial Base ◽  
Molecular Testing ◽  
Von Hippel Lindau ◽  
Molecular Features ◽  
Anterior Cranial Base ◽  
Close Observation ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
Progressive Growth

Abstract BACKGROUND AND IMPORTANCE: We present a unique case of an anterior cranial base von Hippel-Lindau disease (VHL)–associated microcystic neoplasm. To determine the lesion's relationship with VHL and its appropriate management, we discuss its salient clinical, pathological, and molecular features. CLINICAL PRESENTATION: A 36-year-old woman with VHL presented with a 3-month history of phantosmia. Serial magnetic resonance imaging studies revealed a lesion within the ethmoid and frontal sinus region that was first evident 18 months before symptom development and demonstrated progressive growth over the interval period. The lesion was resected via a transbasal approach. Histopathological and immunohistochemical analysis revealed a microcystic lesion composed of bland clear cells and underlying endothelial cells consistent with a VHL-associated microcystic neoplasm that are not known to metastasize. Molecular testing demonstrated loss of heterozygosity of the VHL locus, verifying the tumor as a VHL-related neoplasm. CONCLUSION: Because primary VHL-associated microcystic tumors in the anterior cranial base have not been described previously, the natural history of these tumors remains unclear. Based on the benign features of these lesions, they can be managed conservatively with close observation and surgical intervention reserved for those that produce symptoms.

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