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

Kim HR, Suh YL, Kim JW, Lee JI - J. Korean Med. Sci. (2009)

Bottom Line: 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.The reduction of tumor cell spillage during surgery and regular long-term follow-up are recommended for patients with HBs.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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.

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Related in: MedlinePlus

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.
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Figure 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.

Mentions: In 1996, a 41-yr-old man underwent surgical excision of a solitary cerebellar mass with the pathological diagnosis of HB (Fig. 1A-C). He had no family history or clinical stigmata to suggest the presence of VHL disease. Gross total removal of the tumor was possible, and no evidence of residual or recurrent disease was observed on magnetic resonance imaging (MRI) performed 1 yr after the surgery (Fig. 1D). Ten years after the surgery, he returned to the hospital complaining of low back pain and hypesthesia in his right posterior thigh. MRI of the brain showed multiple mass lesions in the suprasellar area and in the anterior aspect of the upper spinal cord accompanied by diffuse leptomeningeal enhancement (Fig. 2A). Whole-spine MRI revealed numerous tiny enhancing nodules suggestive of leptomeningeal metastasis along the spinal cord and cauda equina (Fig. 2B). No retinal lesion was found on examination of the fundus. Computed tomography (CT) of the abdomen showed no abnormal findings. A blood sample was collected from the patient after informed consent was obtained. Genomic DNA was isolated from peripheral blood leukocytes using a Wizard genomic DNA purification kit according to the manufacturer's instructions (Promega, Madison, WI, U.S.A.). The three exons of the VHL gene as well as their flanking introns were amplified and sequenced by an ABI 3730 sequencer (AME Bioscience, Toroed, Norway). Mutation was not found. The patient underwent surgical resection of the cauda equina lesion and subtotal removal of the tumor. Histopathological examination confirmed the diagnosis of HB, and the microscopic findings were identical to those of the cerebellar HB operated on 10 yr earlier (Fig. 2C). He subsequently received fractionated radiotherapy (a total dose of 3,600 cGy) for a residual lesion in the cauda equina. Brain MRI scans obtained 6 months after the diagnosis of recurrence revealed interval growth of the suprasellar lesion, and gamma knife radiosurgery was performed. He also underwent ventriculoperitoneal shunt due to progressive hydrocephalus. Although the treated lesions showed no further growth, his condition gradually deteriorated with general weakness, anorexia, and frequent vomiting. The patient died of septic shock and respiratory failure at 1 yr after the diagnosis of disseminated recurrence.


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

Kim HR, Suh YL, Kim JW, Lee JI - J. Korean Med. Sci. (2009)

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.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2719216&req=5

Figure 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.
Mentions: In 1996, a 41-yr-old man underwent surgical excision of a solitary cerebellar mass with the pathological diagnosis of HB (Fig. 1A-C). He had no family history or clinical stigmata to suggest the presence of VHL disease. Gross total removal of the tumor was possible, and no evidence of residual or recurrent disease was observed on magnetic resonance imaging (MRI) performed 1 yr after the surgery (Fig. 1D). Ten years after the surgery, he returned to the hospital complaining of low back pain and hypesthesia in his right posterior thigh. MRI of the brain showed multiple mass lesions in the suprasellar area and in the anterior aspect of the upper spinal cord accompanied by diffuse leptomeningeal enhancement (Fig. 2A). Whole-spine MRI revealed numerous tiny enhancing nodules suggestive of leptomeningeal metastasis along the spinal cord and cauda equina (Fig. 2B). No retinal lesion was found on examination of the fundus. Computed tomography (CT) of the abdomen showed no abnormal findings. A blood sample was collected from the patient after informed consent was obtained. Genomic DNA was isolated from peripheral blood leukocytes using a Wizard genomic DNA purification kit according to the manufacturer's instructions (Promega, Madison, WI, U.S.A.). The three exons of the VHL gene as well as their flanking introns were amplified and sequenced by an ABI 3730 sequencer (AME Bioscience, Toroed, Norway). Mutation was not found. The patient underwent surgical resection of the cauda equina lesion and subtotal removal of the tumor. Histopathological examination confirmed the diagnosis of HB, and the microscopic findings were identical to those of the cerebellar HB operated on 10 yr earlier (Fig. 2C). He subsequently received fractionated radiotherapy (a total dose of 3,600 cGy) for a residual lesion in the cauda equina. Brain MRI scans obtained 6 months after the diagnosis of recurrence revealed interval growth of the suprasellar lesion, and gamma knife radiosurgery was performed. He also underwent ventriculoperitoneal shunt due to progressive hydrocephalus. Although the treated lesions showed no further growth, his condition gradually deteriorated with general weakness, anorexia, and frequent vomiting. The patient died of septic shock and respiratory failure at 1 yr after the diagnosis of disseminated recurrence.

Bottom Line: 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.The reduction of tumor cell spillage during surgery and regular long-term follow-up are recommended for patients with HBs.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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.

Show MeSH
Related in: MedlinePlus