Cerebellar hemangioblastoma- A rare entity.

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BMJ Case Reports bcr.03.2011.3943.R2 Rare disease 12-Apr-2011 Aziz, Mehar; J.N. MEDICAL COLLEGE, PATHOLOGY alam, kiran; J.N.Medical College, pathology varshney, manoranjan; J.N.Medical College, pathology Maheshwari, Veena; J.N.Medical College, Pathology Sherwani, Rana; J.N. MEDICAL COLLEGE, PATHOLOGY Gaur, Kavita; jnmc amu aligarh, pathology Srivastava, Vinod; J.N.Medical College, AMU, Aligarh, surgery Pathology 363, Oncology 1333

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TITLE OF CASE

Cerebellar hemangioblastoma- A rare entity.

SUMMARY Up to 150 words summarising the case presentation and outcome (this will be freely available online)

We are presenting here a case of 45 year female presented with headache, nausea, vomiting and ataxia for four months duration. CT head showed a posterior fossa tumor which was diagnosed as hemangioblastoma on microscopic examination.

BACKGROUND Why you think this case is important why did you write it up? Hemangioblastoma is a rare CNS tumor often mimics hemangioma and astrocytoma clinically and radiologically.

CASE PRESENTATION Presenting features, medical/social/family history

A 45 year female presented to neurosurgery OPD with four months history of headache, nausea, vomiting and ataxia. General examination was unremarkable however systemic examination showed features of cerebellar ataxia.

INVESTIGATIONS If relevant

Contrast enhanced CT scan of head revealed a well defined cystic density lesion measuring 30 X 48 X 25 mm. in right cerebellar hemisphere, extending superiorly
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to vermis. Small mural nodule was noted in the posterior aspect of the lesion. The lesion was causing mass effect in the form of mild compression of forth ventricle. On intravenous injection of contrast the mural nodule showed enhancement while the cystic lesion did not show any enhancement [FIG 1A & 1B]. Fundus examination, audiometry and CT abdomen were unremarkable. Molecular genetic testing for von hippel lindau disease did not detect any abnormality. There was no family history suggestive of similar disease. Surgical resection of tumor was done. Gross examination showed a greyish soft tissue piece measuring 1.5 cm in diameter whish was solid on cut section and microscopic examination revealed polygonal cells with juxtaposed capillary channels [FIG 2].These polygonal cells had clear cytoplasm and minimal nuclear pleomorphism[FIG 3A & 3B]. Mitosis was rare. Surrounding tissue had gliosis [FIG 3C] and normal brain parenchyma adjacent to tumor was also noticed [FIG 3D]. Reticulin stain delineates the outlines of vascular architecture [FIG 4]. On the basis of above findings a diagnosis of hemangioblastoma was rendered.

DIFFERENTIAL DIAGNOSIS If relevant

Differential diagnoses include metastatic tumor especially renal cell carcinoma, clear cell meningioma, pilocytic astrocytoma, clear cell ependymoma, atrio-venous malformation and hemangioma. Our case lacked perivascular pseudorosettes, endothelial proliferation, hypercellularity frequent mitosis of clear cell ependymoma. The presence of intimate mixture of vacuolated stromal cells and vascular spaces rule out atrio-venous malformation, hemangioma and clear cell meningioma which may also have vague whorl formation and intranuclear inclusions. Gliosis surrounding the tumor may sometime mimic pilocytic astrocytoma but presence of prominent vascularity rule out it. Metastatic renal cell carcinoma can be a close mimic but it is composed of prominent nucleoli, non uniform chromatin, mitosis and necrosis.

TREATMENT If relevant

Surgical excision of tumor was done.

OUTCOME AND FOLLOW-UP

Patient was discharged in good conditions and till date [9 months after surgery] no focus of recurrence is seen. Ophthalmologic examination, audiometry, blood pressure, USG abdomen and urinary examination for catecholamine metabolites was unremarkable.

DISCUSSION Include a very brief review of similar published cases Page 2 of 5

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Hemangioblastomas are benign vascular tumors comprising 1-2% of all intracranial neoplasm1-3 and about 7.3% of posterior fossa tumors4. They can be seen sporadically or associated with von Hippel-Lindau (VHL) disease in 20-25% of cases5. When associated with VHL the mean age at diagnosis is third decade however sporadic cases seen one decade later. It is commonly seen in cerebellum6-8 however they can be found in brain stem and spinal cord3,9. On the basis of macroscopic examination they can be divided into simple cystic, macrocystic, solid and microcystic type. Macrocystic type comprised of cyst of variable size with in a mural nodule as in our case. Clinical features depend upon the anatomic location of tumor which are due to the mass effect. When present in posterior fossa the patient present with cerebellar dysfunction and features of raised intracranial pressure which include headache, nausea, vomiting, ataxia and dizziness. Histopathological examination reveals proliferating blood vessels with stromal cells which are large and vacuolated. Definitive treatment is complete resection of tumor. After complete excision recurrence is rare10-11. Prognosis is better in our case as it was sporadic not a part of von hippel lindau syndrome.

LEARNING POINTS/TAKE HOME MESSAGES 3 to 5 bullet points this is a required field

*Hemangioblastoma is a rare posterior fossa tumor. *One third cases are associated with VHL disease. *It is earlier when associated with VHL than in sporadic cases.

REFERENCES Vancouver style (Was the patient involved in a clinical trial? Please reference related articles)

[1]- Cushing, H., Bayley, B.: Tumours arising from the blood vessels of the brain. Angiomatous malformations and hemangioblastomas, ed Springfield IL: Charles C: Thomas. 1928. [2]- Neumann H, Eggert H, Weigel K, Friedburg H, Wiestler OD, Schollmeyer P: Hemangioblastomas of the central nervous system. J Neurosurg 1989; 70: 24-30. [3]- Weil R, Vortmeyer A, Zhuang Z, et al: Clinical and molecular analysis of disseminated hemangioblastomatosis of the central nervous system in patients without von Hippel- Lindau disease. J Neurosurg 2002; 96: 775-787. [4]- Olivecrona H: Cerebellar angioreticulomas. J Neurosurg 1952; 9: 317.

[5]- Bhling T, Plate KH, Haltia MJ, Alitalo K, Neumann HPH. Von Hippel-Lindau disease and capillary hemangioblastoma. Kleihues P, Cavenee WK editor. World Health Organization classification of tumours. Pathology and genetics-tumours of the nervous system. Lyon: IARC Press; 2000.
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[6]- Fomekong E, Hernalsteen D, Godfraind C, D'Haens J, Raftopoulos C: Pituitary stalk hemangioblastoma: the fourth case report and review of the literature. Clin Neurol Neurosurg 109:292-298, 2007. [7]- Rumboldt Z, Gnjidic Z, Talan-Hranilovic J, Vrkljan M: Intrasellar hemangioblastoma: characteristic prominent vessels on MR imaging. AJR Am J Roentgenol 180:1480-1481, 2003. [8]- Wasenko JJ, Rodziewicz GS: Suprasellar hemangioblastoma in Von Hippel-Lindau disease: a case report. Clin Imaging 27:18-22, 2003 [9]- . Conway, J., Chou, D., Clatterbuck, R., Brem, H., Long, D.M., Rigamonti, D.: Hemangioblastomas of the Central Nervous System in von Hippel-Linday Syndrome and Sporadic Disease. Neurosurgery 2001; 48: 55-63. [10]- Kato M, Ohe N, Okumura A, Shinoda J, Nomura A, Shuin T, et al: Hemangioblastomatosis of the central nervous system without von Hippel-Lindau disease: a case report. J Neurooncol 72:267-270, 2005. [11]- Reyns N, Assaker R, Louis E, Lejeune JP: Leptomeningeal hemangioblastomatosis in a case of von Hippel-Lindau disease: case report. Neurosurgery 52:1212-1215; discussion 1215-1216, 2003.

FIGURE/VIDEO CAPTIONS figures should NOT be embedded in this document

FIG 1A & 1B: CT head showing enhancement in the mural nodule while the cystic lesion did not show any enhancement. FIG 2: Section showing polygonal cells with juxtaposed capillary channels [H & E X 50]. FIG 3A: High power view showing clear vacuolated cells [H & E X 500]. FIG 3B: High power view showing vacuolated cells with juxtaposed blood vessels [H & E X 500]. FIG 3C: High power view showing gliosis surrounding the lesion [H & E X 500]. FIG 3D: High power view showing normal brain parenchyma adjacent to the lesion [H & E X 500].
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FIG 4A & 4B: Reticulin stain delineating the outline of blood vessel and vacuolated cells [Reti X 500].

Copyright Statement
I, [Kavita gaur], The Corresponding Author, has the right to assign on behalf of all authors and does assign on behalf of all authors, a full assignment of all intellectual property rights for all content within the submitted case report (other than as agreed with the BMJ Publishing Group Ltd) (BMJ Group)) in any media known now or created in the future, and permits this case report (if accepted) to be published on BMJ Case Reports and to be fully exploited within the remit of the assignment as set out in the assignment which has been read. (http://casereports.bmj.com/instructions-forauthors/copyright.pdf)."

Date:Kavita_Mar_2011.2011

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