Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disorder resulting from inactivation of tumor suppressiongenes located at the chromosome 3p 25.5. VHL comprises of many benign and malignant tumors along affecting varioussystems of the body with variable manifestations. A wide variation in radiological spectrum is seen as per the involvement ofparticular system or organ. The imaging modalities like Ultrasonogrphy (USG), Computerized Tomography (CT) andMagnetic Resonance Imaging (MRI) play an important role in diagnosing and treating the affected individuals. These also playequally important role in the screening and follow up of such cases. We present a case of an 18 year old female, who wasdiagnosed with VHL at the age of 10 years, where imaging modalities helped her management and follow up

BB, Sharma

P, Ramchandran

S, Sharma

English

Atharva Scientific Publications (E-Jounals)

Sharma et al                                                       von Hippel-Lindau Disease 
Vol 1 / Issue 1 / Jan-Mar 2015                                                        Indian J Case Reports / 14 
Case Report 
Radiological Spectrum of von Hippel-Lindau disease – A Case Report 
Sharma S
1
, Sharma S
2
, Ramchandran P
3
, Sharma S
4
, Sharma BB
5
 
 
From 1Department of Pediatrics, and 2Department of Anaesthesia, SGT Medical College, Gurgaon, India, 3Department of 
Anesthesia, Heartlands Hospital, Brimingham, UK, 4 Department of ENT, Head & Neck Surgery, and 5Department of Radio 
diagnosis, Post Graduate Institute of Medical Education and Research & Dr. Ram Manohar Lohia hospital, New Delhi, India. 
Correspondence to: Dr Shashi Sharma, B-32, Nivedita Kunj, Sector 10, R K Puram, New Delhi – 110022. E mail: 
shashi.s986@gmail.com. Tel No +91 11 26712700 
Received: 18 December 2014   Initial Review: 07 February 2015   Accepted: 23 February 2015  Published online: 28 February 2015 
ABSTRACT 
Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disorder resulting from inactivation of tumor suppression 
genes located at the chromosome 3p 25.5. VHL comprises of many benign and malignant tumors along affecting various 
systems of the body with variable manifestations. A wide variation in radiological spectrum is seen as per the involvement of 
particular system or organ. The imaging modalities like Ultrasonogrphy (USG), Computerized Tomography (CT) and 
Magnetic Resonance Imaging (MRI) play an important role in diagnosing and treating the affected individuals. These also play 
equally important role in the screening and follow up of such cases. We present a case of an 18 year old female, who was 
diagnosed with VHL at the age of 10 years, where imaging modalities helped her management and follow up.  
Keywords: VHL, autosomal dominant, genetic disorder, USG, CT, MRI 
on Hippel-Lindau disease (VHL) was named after 
a German Ophthalmologist Eugen von Hippel 
and Swedish pathologist Arvid Vilhelm in 1964. 
This is an autosomal dominant genetic disorder resulting 
from inactivation of tumor suppression genes located at 
the chromosome 3p 25.5.This is a multisystem disorder 
and has got variable clinical manifestations such as 
hemangioblastomas of the retina and central nervous 
system, renal tumors and cysts, pancreatic tumors and 
cysts, pheochromocytomas, endolymphatic sac tumors and 
epididymal cystadenomas. The mutation results in 20% of 
the cases. The prevalence of the disease is 1 in 31,000 to 1 
in 53,000. 
CASE REPORT 
An 18 year old female reported with the complaints of 
headache, anxiety, abdominal pain and abdominal 
distension. She was diagnosed as a case of von Hippel-
Lindau disease at the age of ten year when she presented 
with similar complaints. Diagnosis was made on the basis 
of biochemical parameters including VMA levels, USG, 
CECT and MRI findings. There was no family history 
suggestive of the disease.  
At that time, abdominal USG suggested possibility of 
VHL by showing huge pancreas studded with multiple 
cysts which was later supported by CECT abdomen. MRI 
head revealed multifocal hemangioblastomas in 
cerebellum which was pressing upon the fourth ventricle 
resulting in features of raised intracranial pressure and 
headache. Surgical management led to relief in the 
ongoing obstructive hydrocephalic pathology as well as 
the confirmation of diagnosis by histo-pathological 
examination. 
At present the biochemical parameters are within the 
normal range including equivocal VMA level. Other 
investigations have shown as Hb 10g/dL and BP was 
150/100 mm of Hg. Now the patient is on constant follow 
V 
Sharma et al                                                       von Hippel-Lindau Disease 
Vol 1 / Issue 1 / Jan-Mar 2015                                                        Indian J Case Reports / 15 
up to see the behavior of the disease and to proceed for the 
management accordingly. The patient was reviewed with 
radiological investigations by USG, CT and MRI. USG 
abdomen has shown the enlarged pancreas studded with 
multiple simple cysts. Both the kidneys show multiple 
small masses of mixed echogenecity. 
 
Figure 1 - CECT Abdomen, (a) Axial section shows the enlarged pancreas studded with multiple cysts (wide white arrow). (b) 
Axial section shows tumors in both the kidneys (white arrows). The head of pancreas is also seen full of cysts (black star). (c) 
Sagittal reformatted image shows the enhancing tumor in the spinal cord (white wide arrow). 
 
Figure 2 - MRI Brain Axial sections. (a) Multiple enhancing hemangioblastomas in the cerebellum (white arrows). (b) 
Another section shows similar type of lesions (small black arrow).One of the small tumor has been surgically removed (large 
black arrow on left side). (c) T2W image show multiple hyperintense cystic components of the tumor (black wide arrows). 
 
Figure 3 - MR Dorsolumbar spine (a) T1W Sagittal section shows iso to hypointense lesion in the cord (white arrow). (b) T2W 
Sagittal section shows hyperintensity in the cystic component (black arrow) and hypointensity in the solid component of the 
lesion.(3c) Contrast enhanced T1W Sagittal section shows intense contrast enhancement in the solid component of the 
hemangioblastoma within the cord (black arrow) leaving cystic component unchanged. 
Sharma et al                                                       von Hippel-Lindau Disease 
Vol 1 / Issue 1 / Jan-Mar 2015                                                        Indian J Case Reports / 16 
CECT head and abdomen has shown multiple 
hemagioblastomas in cerebellum, kidneys and spinal cord 
(Figure 1 a,b and c). The pancreatic parenchyma was 
largely replaced by multiple cysts of fluid density. Brain 
MRI also shows multiple cerebellar hemagioblastomas (2 
a,b and c) and multiple bilateral tumors in kidneys .MRI of 
the spine has shown the solid cystic tumor in the dorso 
lumbar region (Figure 3a and b).Contrast MRI has shown 
intense enhancement of the solid component (3 c). There 
was also tethering and compression of the cord. 
DISCUSSION 
VHL is a multisystem disorder which requires correct 
early diagnosis and management. Many patients develop 
end stage complications because of the underlying renal 
and neurological involvement [1,2]. Following 
manifestations are in the order of the involvement [3]: 
Pancreatic cysts (50-91%), Cerebellar hemangioblastoma 
(44-72%), Renal cysts (59-63%), Retinal 
hemangioblastoma (45-59%), Renal cell carcinoma (24-
45%), Spinal cord hemangioblastoma (13-59%), 
Pheochromocytoma (0-60%), Neuroendocrine tumor of 
the pancreas (5-17%), Serous cystadenoma of the pancreas 
(12%), Medullary hemangioblastoma (5%), Papillary 
cystadenoma of the epididymis (10-60%). 
These cases can be classified into two categories: Type 
I has got very low risk of pheochromocytoma but Type II 
has got additional risk of renal cell carcinoma 
(RCC).Family history is very important otherwise minimal 
two or more CNS or retinal hemagioblastomas with other 
visceral tumors confirm the diagnosis. The patient presents 
with symptoms almost like that of tumor. 
Leung et al [4] has advised the screening protocol as 
follow: 1) Annual blood pressure and neurological 
examination. 2) Annual ophthalmoscopy from 5 years of 
age. 3) Annual 24 –hour estimation of vanillylmandelic 
acid (VMA) from 10 years of age. 4) Annual ultrasound 
examination of the abdomen since 10 years of age. 5) 
Baseline Magnetic Resonance imaging examination of 
brain and spine at age of 20 years. 6) MRI examination if 
Audiogram is positive. 
Chokye PL et al (1995) have shown that CNS 
hemangioblastoma is the most common manifestation of 
this entity [6]. The average age in these patients is 50 years 
and the cause of mortality is mainly because of renal cell 
carcinomas and CNS hemagioblastomas.Malek RS et al 
(1987) have revealed that CNS hemangioblastoma usually 
precedes the renal disease. The radiological imaging plays 
a vital role in diagnosing many entities of the spectrum. 
These also play a key role in screening and follow up of 
the diagnosed cases. The management can be tailored by 
early detection of the various manifestations. The imaging 
modalities like USG, CECT and contrast enhanced MRI 
guide the management as per the severity of the disease 
according to the protocol and requisition. USG reveals 
quickly about the character of the intra abdominal lesion in 
their consistency and location. The patient is subjected to 
the next modality as per the requirement.  
The majority of the pancreatic neuroendocrine tumors 
are small and located in the head region which enhance 
homogenously if solid in consistency. These are prone to 
metastasize if the size is more than 3.0 cm .CECT and 
contrast MRI depict with heterogeneous enhancement 
pattern [5]. MRI has got advantage being superior in tissue 
characterization and of non radiation in nature. The hidden 
lesions like retinal hemangioblastomas can easily be 
picked up by this modality [6]. There has to be 
multidisciplinary approach for the management depending 
upon the presenting complaints. The surgical excision is 
the best solution if the patient is symptomatic and follow 
up should be adhered like it was done in our case.. 
CONCLUSION 
VHL is multisystemic disorder which requires correct 
diagnosis, monitoring and management. This is best 
achieved by the right follow up as per the protocol. The 
mainstay of this follow up is by radiological imaging 
modalities like USG, CT and MRI. In our present case the 
patient was operated upon for the posterior fossa 
hemangioblastoma as this was leading to dominant 
symptomatology. Later on the progression of various 
tumors were monitored by the various imaging modalities. 
REFERENCES: 
1. Taouli B, Ghouadni M, Correas JM Hammel P, Couvelard 
A, Richard S, et al. Spectrum of abdominal imaging 
findings in von Hippel-Lindau disease. AJR Am J 
Roentgenol. 2003;181(4):1049-54. 
2. Courcoutsakis NA, Prassopoulos PK, Patronas NJ. 
Aggressive leptomeningeal hemangioblastomatosis of the 
central nervous system in a patient with von Hippel-
Lindau disease. AJNR Am J Neuroradiol. 
2009;30(4):758-60. 
Sharma et al                                                       von Hippel-Lindau Disease 
Vol 1 / Issue 1 / Jan-Mar 2015                                                        Indian J Case Reports / 17 
3. Karsdorp N, Elderson A, Wittebol-Post D, Hene RJ, Vos J, 
Feldberg MA, et al. Von Hippel Lindau disease: new 
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4. Leung RS, Biswas SV, Duncan M, et al. Imaging features 
of von Hippel-Lindau disease. Radiographica. 
2008;28(1):65-79. 
5. Marcos HB, Libutti SK, Alexander HR, Lubensky IA, 
Bartlett DL, Walther MM, et al. Neuroendocrine tumors 
of the pancreas in von Hippel-Lindau disease: Spectrum 
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histopathologic comparison. Radiology. 2002;225:751-8. 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
6. Choyke PL, Glenn GM, Walther MM, Patronas NJ, 
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_______________________________________ 
How to cite this article: Sharma S, Sharma S, Ramchandran 
P, Sharma S, Sharma BB. Radiological Spectrum of von 
Hippel-Lindau disease – A Case Report. Indian J Case 
Reports. 2015;1(1):14-17. 
Conflict of interest: None stated, Funding: Nil 
 


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