Haemangioblastoma, a benign vascular tumor derived from the capillary of endothelial cells, is an inherited\ud
disorder due to an autosomal dominant trait. The prevalence rates accounted for 1% to 2.5% of all intracranial tumors and 2%\ud
to 3% of all intramedullary spinal cord tumors. We report the infrequent case of a robust allegation of von Hippel-Lindau\ud
(VHL) associated haemangioblastoma in the central nervous system of a man. A 20 years old male presented to the hospital\ud
with the chief complaint of progressive chronic cephalgia three months prior to hospitalization. He complained also of\ud
blurred vision on neurologic examination; there is papilla edema with suspicion of retinal edema. Radiological examination\ud
result suggested a cerebellar haemangioblastoma dextra with noncommunicating hydrocephalus. After the first operation\ud
(installation of VP shunting) and subsequent operation (excision of the tumor), the pathological anatomy results revealed a\ud
cavernous angioma

Akbar, Muhammad

Hasmawaty, Basir

Kurnia Bintang, Andi

Yunus Amran, Muhammad

Hasanuddin University Repository

 International Journal of Medical Imaging  
2014; 2(1): 1-4 
Published online January 10, 2014 (http://www.sciencepublishinggroup.com/j/ijmi) 
doi: 10.11648/j.ijmi.20140201.11 
 
A robust allegation of von Hippel-Lindau (VHL) associated 
haemangioblastoma in the central nervous system (CNS): 
A case report 
Muhammad Yunus Amran
*
, Hasmawaty Basir, Andi Kurnia Bintang, Muhammad Akbar 
Hasanuddin University Teaching Hospital, Department of Neurology, Faculty of Medicine, Hasanuddin University, Makassar, South 
Sulawesi, Indonesia 
Email address: 
yunus_amran98@yahoo.com (M. Y. Amran), hasmawatibasir@yahoo.com (H. Basir), a.kurnia_b@yahoo.co.id (A. K. Bintang), 
akbar80fkuh@yahoo.com (M. Akbar) 
To cite this article: 
Muhammad Yunus Amran, Hasmawaty Basir, Andi Kurnia Bintang, Muhammad Akbar. A Robust Allegation of Von Hippel-Lindau (VHL) 
Associated Hemangioblastoma in the Central Nervous System (CNS): A Case Report. International Journal of Medical Imaging.  
Vol. 2, No. 1, 2014, pp. 1-4. doi: 10.11648/j.ijmi.20140201.11 
 
Abstract: Haemangioblastoma, a benign vascular tumor derived from the capillary of endothelial cells, is an inherited 
disorder due to an autosomal dominant trait. The prevalence rates accounted for 1% to 2.5% of all intracranial tumors and 2% 
to 3% of all intramedullary spinal cord tumors. We report the infrequent case of a robust allegation of von Hippel-Lindau 
(VHL) associated haemangioblastoma in the central nervous system of a man. A 20 years old male presented to the hospital 
with the chief complaint of progressive chronic cephalgia three months prior to hospitalization. He complained also of 
blurred vision on neurologic examination; there is papilla edema with suspicion of retinal edema. Radiological examination 
result suggested a cerebellar haemangioblastoma dextra with noncommunicating hydrocephalus. After the first operation 
(installation of VP shunting) and subsequent operation (excision of the tumor), the pathological anatomy results revealed a 
cavernous angioma. 
Keywords: Haemangioblastoma, CNS, CT-Scan, Von Hippel-Lindau Diseases 
 
1. Introduction 
Haemangioblastoma, a benign vascular tumor derived 
from the capillary of endothelial cells [1,2.3], is an 
inherited disorder an autosomal dominant trait [2]. This 
tumor, located in the cerebellum, was reported for the first 
time by Arvid Lindau, known as Lindau's tumor [4], 
whereas when it occurred in the retina known as the von 
Hippel's tumor reported by von Hippel E [5]. This tumor 
was often associated with familial tumor of von 
Hippel-Lindau (VHL) syndrome which is found with cysts 
of the liver, pancreas and kidneys, nevi on the skin, kidney 
tumor, epididymis, and the adrenal [3]. 
Haemangioblastoma, occurs in all ages, but more on the 
young age and middle adult group (more than 80%) which 
between the ages of 15-50 years with an average age of 33 
years. The prevalence rates accounted for 1% to 2.5% of all 
intracranial tumors and 2% to 3% of all intramedullary 
spinal cord tumors. Haemangioblastoma is most commonly 
located in the posterior fossa with an estimated 10% of all 
tumors in the posterior fossa [2, 4]. Haemangioblastoma 
most often located on cerebellar paramedian area. In 
addition, it can also be located in the spinal cord for 2-3% 
of all tumors intramedullary. Here, we reported an 
infrequent case of a 20-year old man who admitted to the 
hospital with the final diagnose is cerebellum 
haemangioblastoma dextra and strongly suspected with von 
Hippel-Lindau disease. 
2. Case Report 
A 20 years old male was admitted to the hospital with the 
chief complaint of chronic progressive cephalgia, which 
experiencing for three months prior to his hospital 
admission. The complaint continuously occurred every day, 
and it perceived in all parts of his head and one month prior 
to the hospital became more severe, especially in the 
morning. He also vomited when he felt the cephalgia 
became heavier. The patient also complained of his blurred 
vision, which started about two weeks after the chief 
complaint arose. Together with his blurred vision, he also 
2 Muhammad Yunus Amran et al.:  A Robust Allegation of Von Hippel-Lindau (VHL) Associated Hemangioblastoma in the  
Central Nervous System (CNS): A Case Report 
noticed that he was walking like a drunkard, and he felt 
dizzy every time he changed his body position and the pain 
never diminished. There was no history of head trauma, 
fever, cramps and weakness on one side of his body. The 
patient denied about a history of hypertension and similar 
illness in his family. The patient had no problems with 
either urination or defecation. On physical examination, his 
blood pressure was 170/120 mmHg; breathing 24 
times/min with thoracoabdominal type; heart pulsation 80 
beats/min regular and temperature was 36.5
0
C. Based on 
neurologic physical examination, we found bilateral optic 
disc cranial nerves edema (with suspected retinal edema) 
from the horizontal nystagmus to the right; no motor 
weakness and sensory disturbance. There was no 
disturbance of the autonomic nervous function. There was a 
disturbance of coordination tests; positive Romberg test, 
dysmetria for the finger-nose test, and dysdiadochokinesia. 
Routine and blood chemistry analyses revealed the 
following results: Hemoglobin (Hb) 16.4 g/dl; white blood 
cell (WBC) 10.9x10
3
/mm
3
; hematocrit (Hct) 47.6%; 
platelet (PLT) 344.000/mm
3
; erythrocytes 5.46x10
6
/mm
3
; 
random blood sugar (RBS) 157 mg/dl; urea 18.43 mg/dl; 
creatinine 1.04 mg/dl; SGOT 15.1 mg/dl and SGPT 19 
mg/dl. Axial head CT scans of both non-contrast and 
contrast to the administration of intravenous gadolinium 
(Gd-DOTA) were performed. From CT-scan without 
contrast showed a hypo-dense mass in the right posterior 
fossa pressing the fourth ventricle to the left and causing 
dilatation of the lateral and third ventricles. 
 
Figure 1. An axial head CT-scan without contrast appeared hypo-dense 
mass (16.5 to 17.7 HU) in the right posterior fossa pressing the fourth 
ventricle to the left and dilatation of the lateral and third ventricles. 
Midline shift to the left (white arrows). Paranasal sinuses and mastoid air 
cell within normal limit and bones were intact. 
This result suggested a mass in the posterior fossa with 
non-communicating hydrocephalus (Figure 1) and CT-scan 
of the head with contrast showed a cystic mass on the wall 
with a solid component (white arrows) in the right posterior 
fossa (with the intensity range from 64.0 to 74.0 HU). Solid 
component became hyper-dense after contrast 
administration. These findings suggested a cerebellar 
haemangioblastoma dextra with non-communicating 
hydrocephalus (Figure 2). The patient underwent 
ventriculoperitoneal (VP) shunting to relieve the increase 
of intracranial pressure inside the skull due to the mass 
effect from the tumor in the fourth ventricle. Subsequently, 
5-days after the VP shunting operation, a tumor excision 
surgery was done, and the tumor was successfully removed. 
The histopathology result: macroscopically visible network 
tattered soft off-white solid 1 cc; microscopically revealed 
tumor tissue with vascular proliferation, containing 
erythrocyte-coated endothelial cells with the diagnosis of 
cavernous angioma (Figure 3). The patient's condition 
improved and has not experienced cephalgia anymore but 
still felt dizzy and impaired coordination was still 
occurring. 
 
Figure 2. An axial head CT-scan with contrast shows a cystic mass on the 
wall with the solid component (white arrows) in the right posterior fossa 
(with the intensity range from 64.0 to 74.0 HU). Solid component becomes 
hyper-dense after contrast administration. Fourth ventricle seems driven 
to the left with dilatation of the lateral and third ventricles. Cerebellar 
midline shift to the left. Paranasal sinuses and mastoid air cell within 
normal limit and bones were intact.  
3. Discussion 
Von Hippel-Lindau (VHL) gene mutation, which is 
located on chromosome 3p25-26, has a pivotal role in the 
occurrence of hemangioblastoma. Moreover, the highest 
protein expressions of VHL mRNA is located in Purkinje 
cells, Golgi type II, dentate nucleus of the cerebellum, the 
nuclei of Pontin and olivaria inferior nucleus medulla 
oblongata in patients with haemangioblastoma. VHL gene 
was also found in the renal tubular system; exocrine 
pancreas gland, adrenal cortex, and liver parenchyma [9, 
10]. 
International Journal of Medical Imaging 2014; 2(1): 1-4 3 
 
This tumor is one of the rarest tumours of the CNS which 
accounts for about 2 % of the entire CNS tumor and about 
7.5 % of all and 5 % in spinal [11]. Haemangiblastoma was 
usually associated with VHL disease. The diagnosis of 
VHL-associated haemangiblastoma can be classified as 
follows [12]: 
1. A patient with a VHL family history and one of this 
diagnosis: retinal haemangiblastoma, cerebellar 
haemangiblastoma, renal cell carcinoma or 
pheochromocytoma and multiple pancreatic cysts. 
2. A patient without a VHL family history but in the 
presence of two or more diagnosis as previously mentioned. 
In this case report, we showed a case with a robust 
allegation of von Hippel-Lindau (VHL) associated 
haemangioblastoma in the central nervous system (CNS). 
This diagnosis based on the findings: from the patient 
anamnesis, the patient complained about his blurred eyes, 
physical examination including neurological examination, 
we found the patient have high blood pressure 170/120 
mmHg which maybe related with pheochromocytoma 
disease and from the funduscopic results; we observed 
papilla edema, which suspected with retinal edema. 
Moreover, CT-Scan of the head revealed a final result of 
cerebellar haemangioblastoma dextra with 
non-communicating hydrocephalus. After the excision of 
the tumor, histopathology findings suggested an angioma 
cavernous result. Of the above list, we have a strong 
suggestion that the diagnosis of the patient was a 
VHL-associated haemangioblastoma cerebellum in the 
central nervous system. There are two forms of this tumor: 
the solid and cystic forms. Macroscopic appearance of CNS 
haemangiblastoma: (1) simple cysts, 5%; (2) macrocystic 
tumor with a dense red-coloured mural nodule, 60%; (3) 
solid tumor, 26% and (4) solid tumor with internal small 
cysts, 9% [13]. 
 
Figure 3. Cerebellum haemangioblastoma histopathology with the 
microscopically revealed tumor tissue with vascular proliferation, which 
containing erythrocytes-coated endothelial cells (Hematoxylin and eosin 
H.E. staining, 400x [1] Capillary endothelial cells containing red cells; [2] 
Vacuolated stromal cells or ‘clear cell” and [3] Giant cell). 
Cerebellum haemangioblastoma would cause typically 
symptoms like headache, papilla edema, dysmetria, 
intention tremor, and gait ataxia. When the tumor enlarges 
and presses the fourth ventricle, it will cause hydrocephalus 
resulting in cerebellar tonsillar herniation and worsening the 
level of consciousness until the death. Sometimes the tumor 
nodules can bleed; thus the clinical symptoms appear like a 
bleeding stroke [3, 14, 15]. The best treatment for this tumor 
is the management of surgery in the form of a complete 
tumor excision with sub occipital craniotomy approach [1, 3, 
14, 15, 16]. 
Patients with haemangioblastoma who do not get surgical 
treatment have a poor prognosis because the tumor will get 
bigger in time [17]. The outcome after surgery is good, 
amounting to 50-80% of patients can return to functional 
activities such as prior experience pain [14,15,17] and still 
have a life expectancy of 5 to 20 years after surgery [14]. 
4. Conclusion 
To diagnose a VHL-associated cerebellum 
haemangioblastoma in the CNS, comprehensive history 
taking (patient’s anamnesis), physical and neurological 
examinations are very important. Radiological imaging by 
means of a CT scan especially contrasts CT scan, and an 
MRI is quite typical to support the diagnosis of this tumor. 
Furthermore, histopathological examination should be used 
to confirm the diagnosis after the tumor had been resection. 
Moreover, improved patient outcome requires total tumor 
resection. 
Conflict of Interest 
The authors declare no conflict of interest.  
 
References 
[1] James TJ, Yung WKA.  Hemangioblastoma.  In : Goetz CG, 
ed.  Text book of clinical neurology.  2nd ed.  Philadelphia : 
Saunders, 2003; 1037. 
[2] Dahret W.  Hemangioblastoma of CNS.  In : Grayson TH, 
ed.  Radiology review manual. 2nd ed.  Baltimore : 
Williams & Wilkins, 1993: 180-1. 
[3] Gilroy J.  Hemangioblastoma.  In : Basic neurology.  3rd 
ed.  New York : McGraw-Hill, 2000: 416-7. 
[4] Lindau A. Studien über Kleinhirnzysten. Bau, Pathogenese 
und Beziehungen zur Angiomatosis retinae. Acta Pathol 
Microbiol Scand 1926; S1: 1–128. 
[5] von Hippel E. Ueber eine sehr seltene Erkrankung der 
Netzhaut. Klinische Beobachtungen. A von Graefe’s Arch 
Ophthalmol 1904; 59: 83–106. 
[6] Vates GE, Auguste KI, Berger MS.  Hemangioblastomas.  
In : Berger MS, Prades MD, eds.  Textbook of 
neuro-oncology. 1st ed. Philadelphia : Elsevier Saunders, 
2005: 294-300. 
4 Muhammad Yunus Amran et al.:  A Robust Allegation of Von Hippel-Lindau (VHL) Associated Hemangioblastoma in the  
Central Nervous System (CNS): A Case Report 
[7] Solomon RA, Spellman JP, Mohr JP.  Hemangioblastoma.  
In : Rowland LP, ed.  Merritt’s neurology.  10th ed.  
Philadelphia : Lippincott Williams & Wilkins, 2000; 374-5 
[8] Neumann HPH, Eggert HR, Weigel K, et al. 
Hemangioblastomas of the central nervous system. A 10 year 
study with special reference to von Hippel–Lindau syndrome. 
J Neurosurg 1989; 70:24–30. 
[9] Bohling T, Plate KH, Haltia M, et al: von Hippel-Lindau 
disease and capillary haemangioblastoma. In Cavanee WK 
(ed): World Health Organization Classification of Tumours: 
Pathology and Genetics of Tumors of the Nervous System. 
Lyon, France, IARC Press, 2000. 
[10] Frantzen C, Links TP, Giles RH. Von Hippel-Lindau Disease. 
2000 May 17 [Updated 2012 Jun 21]. In: Pagon RA, Bird TD, 
Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle 
(WA): University of Washington, Seattle;1993-.Available 
from: http://www.ncbi.nlm.nih.gov/books/NBK1463/ 
[11] Resche F, Moisan JP, Mantoura J, de Kersaint-Gilly A, Andre 
MJ, Perrin-Resche I et al. Haemangioblastoma, 
haemangioblastomatosis, and von Hippel-Lindau disease. 
Adv Tech Stand Neurosurg 1993; 20:197- 304: 197-304. 
[12] Friedrich CA. Von Hippel-Lindau syndrome. A pleomorphic 
condition. Cancer 1999; 86(11 Suppl):2478-2482. 
[13] Richard S, Campello C, Taillandier L, Parker F, Resche F. 
Haemangioblastoma of the central nervous system in von 
Hippel-Lindau disease. French VHL Study Group. J Intern 
Med 1998; 243(6):547-553. 
[14] Solomon RA, Spellman JP, Mohr JP.  Hemangioblastoma.  
In : Rowland LP, ed.  Merritt’s neurology.  10th ed.  
Philadelphia : Lippincott Williams & Wilkins, 2000; 374-5. 
[15] Victor M, Ropper AH.  Hemangioblastoma of the 
cerebellum.  In : Adams and Victor’s principles of neurology. 
7th ed.  New York : McGraw-Hill, 2001; 705-6. 
[16] Vates GE, Auguste KI, Berger MS.  Hemangioblastomas.  
In : Berger MS, Prades MD, eds.  Textbook of 
neuro-oncology. 1st ed.  Philadelphia: Elsevier Saunders, 
2005: 294-300. 
[17] Haughton VM, Daniels DL.  Hemangioblastoma. In: 
William AL, Haughton VM, eds.  Cranial computed 
tomography.  ST Louis: The CV Mosby Company, 1985: 
382-6. 
 


A robust allegation of von Hippel-Lindau (VHL) associated haemangioblastoma in the central nervous system (CNS) : A case report

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A robust allegation of von Hippel-Lindau (VHL) associated haemangioblastoma in the central nervous system (CNS) : A case report

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