scholarly journals Combined Microsurgery and Radiotherapy for Multiple Spinal Cord Hemangioblastomas with Holocord Syrinx in von Hippel-Lindau Disease: A Case Report

2019 ◽  
Vol 80 (04) ◽  
pp. e46-e50
Author(s):  
Nicolas Knoop ◽  
Clemens Seidel ◽  
Clara Frydrychowicz ◽  
Jürgen Meixensberger
Keyword(s):  
Spinal Cord ◽  
Tumor Growth ◽  
Clinical Symptoms ◽  
External Beam Radiotherapy ◽  
Adequate Treatment ◽  
Von Hippel Lindau ◽  
Spinal Axis ◽  
Von Hippel Lindau Disease ◽  
Control Complex

AbstractSpinal and cerebellar hemangioblastomas are common in von Hippel-Lindau disease (vHLD) and usually treated surgically. Multifocal presence and surgically not amenable locations are issues that require a combined microsurgical and radiosurgical approach to control complex cases.We would like to present the case of a 37-year-old male patient who was diagnosed vHLD with multiple spinal and one infratentorial hemangioblastomas and holocord syrinx formation of the whole spinal cord. Combined microsurgical approaches to two spinal lesions and the cerebellar lesion followed by external beam radiotherapy of the posterior fossa and the whole spinal axis stabilized tumor growth of the asymptomatic lesions, while no recurrent tumors were detected at the site of surgery. A clinical deterioration connected to early postoperative deficits stabilized to a moderate gait ataxia. The follow-up after radiotherapy covered 60 months.A combination of microsurgery and radiosurgery for the surgically not amenable lesions is an adequate treatment regimen to stabilize tumor growth and clinical symptoms of multifocal spinal hemangioblastomas in vHLD, though the therapy should be limited to symptomatic or growing lesions.

Natural History of Supratentorial Hemangioblastomas in von Hippel-Lindau Disease

Neurosurgery ◽  
2010 ◽  
Vol 67 (3) ◽  
pp. 577-587 ◽  
Author(s):  
◽  
Matthieu Peyre ◽  
Philippe David ◽  
Remy Van Effenterre ◽  
Patrick François ◽  
...  
Keyword(s):  
Natural History ◽  
Tumor Growth ◽  
Cyst Formation ◽  
Imaging Data ◽  
Familial Predisposition ◽  
Von Hippel Lindau ◽  
Serial Imaging ◽  
History Of ◽  
Von Hippel Lindau Disease

Abstract BACKGROUND Supratentorial hemangioblastomas are rare lesions, occurring either sporadically or in von Hippel-Lindau disease. OBJECTIVE Following recent advances in our understanding of the natural history of von Hippel-Lindau–associated cerebellar and spinal hemangioblastomas, we conducted a study of the natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease. METHODS We reviewed a series of 18 supratentorial hemangioblastomas in 13 patients with von Hippel-Lindau disease. Clinical, genetic, and serial imaging data and operative records were analyzed. RESULTS Hemangioblastomas were most commonly seen in the temporal lobe. Only 6 tumors had a cyst at diagnosis or during follow-up, and only 6 patients had associated symptoms at presentation or during follow-up. The most frequent clinical presentations were intracranial hypertension and visual loss. Of 14 tumors with documented serial imaging, 13 demonstrated tumor growth. Rates and patterns of tumor growth were unique to each patient. The mechanism of cyst formation described in other locations was also demonstrated in the supratentorial region. Patterns of peritumoral edema and rate of cyst formation seemed to be influenced by the presence of anatomic barriers. Germline VHL mutation was identified in all patients, but no specific genotype-phenotype correlation was found, although a familial predisposition is suggested. CONCLUSION This series illustrates the wide variation in tumor locations, patterns of growth, and edema progression seen in supratentorial hemangioblastomas and adds to our knowledge of the natural history of hemangioblastomas.

scholarly journals Adrenal Cortex-Sparing Surgery for Bilateral Multiple Pheochromocytomas in a Patient with Von Hippel-Lindau Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Tarık Esen ◽  
Ömer Acar ◽  
Ahmet Tefekli ◽  
Ahmet Musaoğlu ◽  
İzzet Rozanes ◽  
...  
Keyword(s):  
Adrenal Cortex ◽  
Adrenocortical Function ◽  
Renal Masses ◽  
Von Hippel Lindau ◽  
Pancreatic Masses ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Pheochromocytomas can be a part of familial neoplastic syndromes, in which case they tend to be multiple and involve both adrenal glands. Therefore, sparing adrenocortical function represents a major concern while dealing with these hereditary lesions. Herein, we describe the clinical characteristics and the management strategy of a patient with von Hippel-Lindau (VHL) disease who had multiple, bilateral pheochromocytomas as well as bilateral renal masses, pancreatic masses, and a paracaval mass. Only a portion of the left adrenal gland has remained in situ after two consecutive open surgeries and a percutaneous radiofrequency ablation which have been performed to treat the various components of this syndrome. No adrenal or extra-adrenal pheochromocytoma recurrences have been detected during a follow-up period of more than 2 years. Pancreatic and adrenal functions were normal throughout the postoperative period and never necessitated any replacement therapy. Adrenal cortex-sparing surgery is a valid option for VHL disease patients who present with synchronous bilateral adrenal pheochromocytomas.

Endocrine Manifestations of von Hippel–Lindau Disease

2015 ◽  
Vol 139 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Clarissa Cassol ◽  
Ozgur Mete
Keyword(s):  
Neuroendocrine Tumors ◽  
Autosomal Dominant ◽  
Suppressor Gene ◽  
Autosomal Dominant Disorder ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Sporadic Cases ◽  
Vhl Disease

von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by heterozygous mutations in the VHL tumor suppressor gene that is characterized by the occurrence of multiple endocrine and nonendocrine lesions. This review focuses on the endocrine manifestations of VHL disease. Pancreatic neuroendocrine proliferations (ductuloinsular complexes, islet dysplasia, endocrine microadenoma, and neuroendocrine tumors), pheochromocytomas, and extra-adrenal paragangliomas are important endocrine manifestations of VHL disease. They frequently display characteristic clinical, biochemical, and histopathologic features that, although not pathognomonic, can be helpful in suggesting VHL disease as the underlying etiology and distinguishing these tumors from sporadic cases. Recent improvements in treatment and outcomes of renal cell carcinomas have allowed pancreatic neuroendocrine tumors to emerge as a significant source of metastatic disease, making the accurate recognition and classification of these neoplasms by the pathologist of utmost importance to determine prognosis, treatment, and follow-up strategies for affected patients.

Monotherapy with thalidomide for treatment of spinal cord hemangioblastomas in a patient with von Hippel-Lindau disease

2009 ◽  
Vol 53 (3) ◽  
pp. 464-467 ◽  
Author(s):  
Iacopo Sardi ◽  
Massimiliano Sanzo ◽  
Flavio Giordano ◽  
Anna Maria Buccoliero ◽  
Federico Mussa ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Novel insights into the polycythemia–paraganglioma–somatostatinoma syndrome

2016 ◽  
Vol 23 (12) ◽  
pp. 899-908 ◽  
Author(s):  
Roland Därr ◽  
Joan Nambuba ◽  
Jaydira Del Rivero ◽  
Ingo Janssen ◽  
Maria Merino ◽  
...  
Keyword(s):  
Gallbladder Disease ◽  
Hypoxia Inducible Factor ◽  
Somatic Mosaicism ◽  
Clinical Aspects ◽  
Von Hippel Lindau ◽  
Pet Ct ◽  
Von Hippel Lindau Disease ◽  
Long Term Prognosis

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel–Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.

scholarly journals Resection of spinal hemangioblastoma

2014 ◽  
Vol 37 (v2supplement) ◽  
pp. Video15
Author(s):  
Giuseppe Lanzino ◽  
Saul F. Morales-Valero ◽  
William E. Krauss
Keyword(s):  
Spinal Cord ◽  
Venous Drainage ◽  
Complete Resection ◽  
Cervical Cord ◽  
Von Hippel Lindau ◽  
Link Type ◽  
Single Piece ◽  
Von Hippel Lindau Disease ◽  
Spinal Hemangioblastoma

Spinal cord hemangioblastomas occur as sporadic lesions or in the setting of Von Hippel-Lindau disease. In this intraoperative video we present a case of sporadic cervical cord hemangioblastoma and illustrate the main surgical steps to achieve safe and complete resection which include: identification and division of the feeding arteries; careful circumferential dissection of the tumor from the surrounding gliotic cord; identification, isolation and division of the main venous drainage and single piece removal of the tumor.The video can be found here: http://youtu.be/I7DxqRrfTxc.

Optimal follow-up intervals in active surveillance of renal masses in patients with von Hippel-Lindau disease

2015 ◽  
Vol 25 (7) ◽  
pp. 2025-2032
Author(s):  
Fabio Pomerri ◽  
Giuseppe Opocher ◽  
Chiara Dal Bosco ◽  
Pier Carlo Muzzio ◽  
Gisella Gennaro
Keyword(s):  
Active Surveillance ◽  
Renal Masses ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Oral Propranolol in Von Hippel Lindau Ocular Affection

2021 ◽  
Author(s):  
BEATRIZ GONZÁLEZ-RODRÍGUEZ ◽  
MARIA GONZÁLEZ-RODRÍGUEZ ◽  
NATALIA BEJARANO RAMÍREZ ◽  
ROSA MARÍA JIMÉNEZ ESCRIBANO ◽  
FRANCISCO JAVIER REDONDO CALVO
Keyword(s):  
Visual Acuity ◽  
Malignant Tumors ◽  
Anterior Segment ◽  
First Year ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Promising Treatment ◽  
Vhl Disease ◽  
Oral Propranolol

Abstract Purpose. von Hippel Lindau (VHL) disease is a familiar syndrome associated with benign and malignant tumors. These tumors appear in the retina, cerebellum, spinal cord, and kidney. Retinal hemangioblastomas are one of the earliest and most frequent manifestations of this entity, and they can lead to blindness at a young age. Propranolol could be a promising treatment for retinal hemangioblastomas in von Hippel Lindau disease. Methods. Prospective cohort study. Seven patients with VHL disease and ocular affection that had rejected conventional treatment were included. Prospective analysis of seven patients was performed. We evaluated them for three years, with a complete ophthalmic evaluation that included: visual acuity, intraocular pressure, an examination of the anterior segment of the eye, fundoscopy, retinography, and optical coherence tomography (OCT). Heart rate and blood pressure on each patient were also measured. During the follow-up evaluation, two patients discontinued the treatment with propranolol after the first year and rejected any further treatment for their ocular affection; the rest continued therapy for the three years. Results: Visual acuity and tumor areas remained stable in 4 patients. Increased and new retinal exudation area was found in the two patients that discontinued the treatment with oral propranolol. Conclusions: Oral propranolol has shown a role in the reabsorption of retinal exudates in patients with von Hippel Lindau affection. It could delay or stabilize the ocular disease, maintaining visual acuity, and avoiding further complications in these patients. It is a well-known and available drug, without so many secondary effects, that could also have a role in other ocular diseases that course with exudation.

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