Disseminated hemangioblastomatosis of the central nervous system without von Hippel-Lindau disease: a case report

Abstract

We report a very rare case of hemangioblastomatosis that developed after surgical removal of a solitary cerebellar hemangioblastoma (HB). A 51-yr-old man presented with back pain 10 yr after undergoing surgery for cerebellar HB. Magnetic resonance imaging showed numerous mass lesions along the entire neuraxis accompanied by prominent leptomeningeal enhancement. Genomic DNA analysis showed no mutation in the von Hippel-Lindau (VHL) genes. A surgical specimen obtained from a lesion in the cauda equina showed pathological findings identical to those of the cerebellar HB that had been resected 10 yr earlier. External beam radiation therapy and radiosurgery were subsequently performed; however, the patient succumbed one year after receiving the diagnosis of hemangioblastomatosis. The reduction of tumor cell spillage during surgery and regular long-term follow-up are recommended for patients with HBs.

Keywords: Central Nervous System; Hemangioblastoma; von Hippel-Lindau Disease.

Fig. 1

Initial magnetic resonance images, pathology finding and postoperative MR images in first diagnosis. (A, B) Initial T1-weighted magnetic resonance images obtained after gadolinium infusion. Sagittal and axial images of the brain showing a well-enhanced cerebellar mass but no mass in the suprasellar or cervicovertebral junction. (C) Pathology microphotograph stained with hematoxylin and eosin (×400) showing large vacuolated stromal cells that have larger, hyperchromatic nuclei and an eosinophilic foamy cytoplasm. It is characterized by the accumulation of lipid droplets within stromal cells and a rich capillary network. (D) T1-weighted magnetic resonance images taken 1 yr after surgery. There was no evidence of residual or recurrent disease on MR images.

Fig. 2

Brain and lumbar magnetic resonance images and the pathology finding in disseminated recurrence. (A) T1-weighted magnetic resonance images obtained after gadolinium infusion. Sagittal view of the brain showing an enhancing mass in the suprasellar area with prominent leptomeningeal enhancement and another enhancing mass ventral to the upper spinal cord. (B) Sagittal view of the lumbar spine showing multiple enhancing nodules within the thoracolumbar spinal canal. (C) Histopathological photograph obtained from the mass in the cauda equina, which was stained with hematoxylin and eosin (×200). The architecture of tissue cells and morphology of the cells are identical with that of the cerebellar tumor shown in Fig. 1A.