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

Abstract

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...

Disseminated cerebellar hemangioblastoma in two patients without von Hippel-Lindau disease

“…Literature review revealed only 12 patients reported with cerebrospinal fluid dissemination of cerebellar hemangioblastoma. [ 1 2 3 4 5 6 11 14 15 ] With our report, the total number of patients described in literature would be 14. The demographic characteristics and various other factors been delineated in the Table 1 .…”

Aggressive dissemination of central nervous system hemangioblastoma without association with von Hippel–Lindau disease: A case report and literature review

“…There are several case reports and case series in the literature regarding multiple CNS HBs in patients with VHL;[ 7 , 12 , 14 , 18 , 28 , 34 ] however, the dissemination of HB in patients without VHL disease is extremely rare.…”

Spinal leptomeningeal hemangioblastomatosis occurring without craniospinal surgery in von Hippel-Lindau disease

“…The mutated gene in VHL disease is a tumour suppressor gene located on the short arm of chromosome 3 3 5 6. In addition to HBs, multiple visceral neoplasms are characteristic of VHL disease, including renal clear cell carcinoma, pheochromocytoma and pancreatic neuroendocrine tumour 1 7–11. Although HBs are usually treated with total resection, local recurrence is not uncommon, having a greater frequency of repeat surgery in patients with VHL than in sporadic cases 10…”

“…In 1976, Mohan et al first described this malignant spread of HB to the spinal cord occurring several years after surgical removal of a cerebellar HB 12. Hemangioblastomatosis has been documented in patients with VHL disease following surgical removal of a cerebellar HB 9 11 13–16. It has also been reported in patients without VHL disease after surgical removal of a cerebellar HB 3 4 8 17–24.…”