Spinal Leptomeningeal Hemangioblastomatosis in von Hippel‐Lindau Disease: Magnetic Resonance and Pathological Findings

Bakshi, Rohit; Mechtler, Laszlo; Patel, Malti J.; Lindsay, Bret D.; Messinger, Sol; Gibbons, Kevin J.

doi:10.1111/jon199774242

Cited by 29 publications

(22 citation statements)

References 11 publications

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“…The extravasated fluid may also dissect the parenchyma in the cord and reach the central canal leading to syringomyelia. 5 Diffuse and extensive leptomeningeal infiltration by HBs similar to that in our patient is an exceedingly rare phenomenon. The term leptomeningeal hemangioblastomatosis was first introduced by Bakshi et al 5 to describe this unusual presentation.…”

Section: Discussionmentioning

confidence: 98%

“…5 Diffuse and extensive leptomeningeal infiltration by HBs similar to that in our patient is an exceedingly rare phenomenon. The term leptomeningeal hemangioblastomatosis was first introduced by Bakshi et al 5 to describe this unusual presentation. In a recent review of the literature, a total of 15 cases were reported with spinal infiltration but without supratentorial infiltration on imaging; 6 cases were associated with VHL disease and 9 caused by spontaneous mutations.…”

Section: Discussionmentioning

confidence: 98%

“…Bakshi et al 5 suggested that this phenomenon occurs as a result of release by tumor cell factors that promote aggressive angiogenesis or increase vascular permeability. Mohan et al 10 suggested that 1 or several other gene mutations, in addition to the VHL gene, may have induced this type of rapid growth and dissemination.…”

Section: Discussionmentioning

confidence: 99%

“…4 Diffuse infiltration of the leptomeninges is known as hemangioblastomatosis and has been observed both in VHL disease and in patients with spontaneous mutations. [4][5][6][7][8] We report a case of a 53-year-old man with aggressive spinal and brain leptomeningeal hemangioblastomatosis that developed in a relatively short period.…”

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Aggressive Leptomeningeal Hemangioblastomatosis of the Central Nervous System in a Patient with von Hippel-Lindau Disease: Fig 1.

Courcoutsakis¹,

Prassopoulos²,

Patronas³

2008

AJNR Am J Neuroradiol

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SUMMARY:Hemangioblastomas of the central nervous system are the most common tumors seen in patients with von Hippel-Lindau (VHL) disease. A very rare case of diffuse leptomeningeal hemangioblastomatosis obliterating large areas of the subarachnoid space, both intracranial and within the spinal canal, which developed during a relatively short period, in a patient with VHL disease is presented. Von Hippel-Lindau (VHL) disease is an autosomal-dominant disorder (Mendelian Inheritance in Man No. 193300) with a prevalence estimated to be between 1 per 35,000 and 1 per 40,000, afflicting approximately 6000 to 7000 patients in the United States.1,2 The VHL gene defect is located in the short arm of the chromosome 3 (3p25-26). 1-3The target sites for this mutation are the retina, brain, spinal cord, and the glandular and neural crest cells. Hemangioblastomas (HBs) of the retina and the central nervous system (CNS) are the most common tumors, occurring in more than 70% of patients with VHL disease.1-3 HBs of the CNS also occur as a result of spontaneous mutation in the absence of other manifestations of VHL disease.4 Diffuse infiltration of the leptomeninges is known as hemangioblastomatosis and has been observed both in VHL disease and in patients with spontaneous mutations. 4-8We report a case of a 53-year-old man with aggressive spinal and brain leptomeningeal hemangioblastomatosis that developed in a relatively short period. Case ReportA 53-year-old white man diagnosed at age 43 years with VHL disease (type II-B, according to the National Institutes of Health classification) had initially presented with neck pain and visual disturbances. Before enrollment, patient had undergone a suboccipital craniectomy for the removal of a cerebellar HB. Brain and spinal MR imaging revealed 1 large HB at the anterior aspect of the pons and several tumors in the cerebellar hemispheres on admission. An additional HB was present on the anterior aspect of the spinal cord at the level of C6 -C7. A syrinx was present in the thoracic spine without evidence of other abnormalities. MR imaging scans of the brain demonstrated no leptomeningeal involvement. Retinal HBs were also found during ophthalmologic examination. Imaging studies of the abdomen demonstrated bilateral adrenal tumors and multiple cystic and solid tumors in both kidneys. In the following months, the patient underwent several surgical procedures, which included a right nephrectomy and a partial left nephrectomy for renal cell carcinoma, and bilateral adrenalectomies for the removal of pheochromocytomas.The tumor of the cervical cord was removed surgically, and immediately after recovery, the tumor of the pons was treated with radiation. On follow-up MR imaging scans, the tumor in the pons and the small cerebellar tumors appeared stable without evidence of growth. Approximately 2 years after completion of radiation therapy, an infiltration of the leptomeninges in the suprasellar cistern and in the spinal canal by HB had developed. Within the next 2 years, this process became g...

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Aggressive Leptomeningeal Hemangioblastomatosis of the Central Nervous System in a Patient with von Hippel-Lindau Disease: Fig 1.

Courcoutsakis¹,

Prassopoulos²,

Patronas³

2008

AJNR Am J Neuroradiol

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“…Os sinais e sintomas mais frequentes são cefaléia, vômito, tontura, ataxia e distúrbios da marcha 1,[6][7][8] , sendo estes os mais referidos por nossos pacientes. A angiografia, revelando lesão altamente vascularizada em fossa posterior, bem como a ressonância nuclear magnética e tomografia axial computadorizada (Fig 1), demonstrando nódulo impregnado por contraste nesta mesma topografia, são os métodos de neuroimagem de escolha para o diagnóstico de hemangioblastomas [9][10][11] .…”

Section: Discussionunclassified

Hemangioblastomas: achados clínicos, epidemiológicos e anatomopatológicos em 14 casos

Gasparetto¹,

Faoro²,

Filho³

et al. 2000

Arq. Neuro-Psiquiatr.

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RESUMO -Relatamos os achados clínicos, epidemiológicos e anatomopatológicos de 14 casos de hemangioblastoma. Sessenta e quatro por cento ocorreram em pacientes do sexo masculino, com idades variando de 16 a 60 anos, com média de 34,4 anos. Nove localizaram-se no cerebelo. Os sintomas mais comuns foram cefaléia (n=7) e tontura (n=7), com período médio de evolução de 70 dias. O diagnóstico de síndrome de von Hippel-Lindau (vHL) foi feito em 3 pacientes. Onze pacientes foram submetidos a ressecção cirúrgica total e 3 a exérese parcial. Evidenciou-se recidiva em 28% dos casos, em 3 anos de acompanhamento. Os pacientes com vHL apresentaram recidiva em 66% dos casos. Estes achados aproximam-se dos encontrados na literatura, enfatizando a morbidade deste tumor quando associado à vHL. PALAVRAS-CHAVE: hemangioblastoma, sistema nervoso central, tumores, facomatoses. Haemangioblastomas: clinical, epidemiological and pathological findings in 14 casesABSTRACT -We report the clinical, epidemiological and pathological findings of 14 patients with haemangioblastoma. Sixty-four percent occurred in males, with ages ranging from 16 to 60 years, with an average of 34,4 years. Most of the tumours were confined to the cerebellum (n=9). The most frequent symptoms were headache (n=7) and dizziness (n=7), with a mean duration of 70 days. Von Hippel-Lindau syndrome (vHL) was diagnosed in 3 patients. Eleven patients were submitted to total surgical removal and in 3 the tumour was partially ressected. A relapse rate of 28% in 3 years of follow-up was found. The patients with vHL showed recurrence in 66% of the cases. These findings corroborate those in current medical literature, showing an increased morbidity of this tumor when associated with vHL.

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V on H ippel– L indau Syndrome

Schimke

Collins

2005

Management of Genetic Syndromes

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Von Hippel–Lindau syndrome is a multisystem disorder inherited as an incompletely penetrant autosomal dominant trait. The chief features of the syndrome are tumors, both benign and malignant. Multiple visceral cysts are common as well. The von Hippel–Lindau gene, located on chromosome 3p25‐26 is a recessive tumor‐suppressor gene. Its function is complex. Some genotype‐phenotype correlation exists. Effective treatment can be accomplished by early clinical and molecular identification of gene carriers. Anticipatory guidance is the key.

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Spinal Leptomeningeal Hemangioblastomatosis in von Hippel‐Lindau Disease: Magnetic Resonance and Pathological Findings

Cited by 29 publications

References 11 publications

Aggressive Leptomeningeal Hemangioblastomatosis of the Central Nervous System in a Patient with von Hippel-Lindau Disease: Fig 1.

Aggressive Leptomeningeal Hemangioblastomatosis of the Central Nervous System in a Patient with von Hippel-Lindau Disease: Fig 1.

Hemangioblastomas: achados clínicos, epidemiológicos e anatomopatológicos em 14 casos

V on H ippel– L indau Syndrome

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