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NEURORADIOLOGY Table of Contents   
Year : 2002  |  Volume : 12  |  Issue : 3  |  Page : 325-327
Von Hippel-Lindau disease


Dept of Radiology, Amrita Institute of Medical Sciences, Amrita lane, Elamakara, Cochin 682 026, India

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Keywords: Venous aneurysm, Anterior Jugular Vein, CT Angiography

How to cite this article:
Moorthy S, Prabhu N K, Sreekumar K P. Von Hippel-Lindau disease. Indian J Radiol Imaging 2002;12:325-7

How to cite this URL:
Moorthy S, Prabhu N K, Sreekumar K P. Von Hippel-Lindau disease. Indian J Radiol Imaging [serial online] 2002 [cited 2020 Jun 5];12:325-7. Available from: http://www.ijri.org/text.asp?2002/12/3/325/28471
Von Hippel-Lindau disease is a rare familial syndrome characterized by multiple central nervous system hemangioblastomas, retinal angiomas and cysts and tumours of the abdominal viscera. Hemangioblastomas have very typical imaging features. Since there are no cutaneous markers in this syndrome, the diagnosis can be achieved only radiologically in most cases. Because of its proven capability in brain and spine imaging, MRI is the modality of choice in diagnosing the central nervous system manifestations of Von Hippel-Lindau disease.


   Case Report Top


A 22 year old male presented with a four month history of gradually progressing weakness of upper and lower limbs and paresthesia of both hands. He also gave a long history of visual impairment in adolescence and was blind in the left eye for the last 1 year. On examination, all four limbs showed grade 3 power with spasticity. Pain and temperature sensations were impaired in the upper limbs. There was no light perception in the left eye. Right eye was normal. An upper cervical compressive lesion or syrinx were considered in the differential diagnosis and an MRI was performed. Unenhanced T1 weighted images showed a heterogenous ill-defined mass in the upper cervical cord with a septate syrinx involving the rest of the cervical and the upper thoracic cord. Prominent vessels (flow-voids) were noted within and on the surface of the lesion. [Figure - 1]. Contrast scans showed an intensely enhancing well-defined intramedullary mass at the C2 level. Two additional enhancing lesions were seen in the inferior vermis and in the cerebellum [Figure - 2]. Subsequent MR of brain showed enhancing nodule in the left cerebellar hemisphere which was also associated with a tortuous flow-void. The contrast T1 images showed the left globe to be slightly brighter than the normal right side [Figure - 3]. Proton density images showed uniform abnormal hyperintense signal involving the anterior and posterior chambers of the left eye. Marked hypointensity and apparent thickening of the uveo-sclera was noted [Figure - 4]. The thickening was not seen on T1 images indicating that it was a magnetic susceptibility artifact

MR findings in the left eye are suggestive of chronic intraocular haemorrhage resulting in peripheral haemosiderin deposition. Enhancing mass in the cervical cord with tumour-associated syrinx and flow void is typical of hemangioblastoma. Cerebellar lesions are also typical of hemangioblastoma. Multiple hemangioblastomas of the spinal cord and cerebellum with evidence of intraocular haemorrhage is strongly suggestive of Von Hippel- Lindau disease. The patient underwent surgery for the spinal cord lesion. Histopathology confirmed hemangioblastoma


   Discussion Top


Von Hippel Lindau disease is an autosomal dominant disorder with a prevalence of about 1 in 50000. There is no sex predilection. It was originally described as an association of retinal angioma and cerebellar hemangioblastoma. A diagnosis of Von Hippel Lindau disease can be made if the patient has multiple central nervous system and retinal hemangioblastomas or one hemangioblastoma with a cyst in the kidney, pancreas, liver or epididymis or a phaeochromocytoma or renal carcinoma. A family history of Von Hippel Lindau disease with at least one hemangioblastoma, visceral cyst, phaeochromocytoma or renal carcinoma is also sufficient to make the diagnosis [1]. Patients with retinal lesions present in their 20s while spinal cord and brain hemangioblastomas, generally, become symptomatic in the 4th decade [2].

Hemangioblastomas account for 3% of intracranial tumours and approximately 8% of posterior fossa masses. Only 20% of patients with hemangioblastoma have Von Hippel Lindau disease. In this syndrome, 75% of hemangioblastomas occur in the cerebellum and 25% in the spinal cord. The classic appearance of hemangioblastoma is a cystic, fluid filled lesion with a mural nodule. This appearance is seen in only one third of hemangioblastomas. The lesion may be entirely solid or have a heterogenous solid-cystic morphology. The solid mural nodule is very vascular and has a superficial subpial location [1],[2].

On MR imaging, the cyst fluid tends to be slightly brighter than CSF on T1 images. Tubular and curvilinear flow voids are seen inside or, more typically along the periphery of the solid portion. On T2 images, the cyst fluid is as bright as CSF. The solid portion of the tumour may show scattered hypo-intensities representing either flow voids or haemosiderin deposits due to chronic haemorrhage. Contrast scans show intense enhancement of the solid portion of the tumour. Spinal cord hemangioblastomas are intra-medullary isointense enhancing nodules associated with extensive syrinx-like cyst. Retinal 'angiomas' are also hemangioblastomas. They are seen in up to 60% of patients with Von Hippel Lindau disease and are bilateral in half of these cases. Lesions can be observed on funduscopic examination in the absence of haemorrhage or subretinal exudates. 75% of patients with Von Hippel Lindau disease will develop pancreatic cysts and more than 50% will have renal cysts or renal cell carcinomas. The renal carcinomas in this syndrome are often bilateral with a low rate of recurrence following renal sparing surgery. Phaeochromocytoma are seen in 10-15% patients with Von Hippel Lindau disease [1].

There are no cutaneous manifestations in Von Hippel Lindau disease. Unless there is a family history of the condition, a prospective clinical diagnosis is not possible. The identification of multiple cerebellar and spinal cord hemangioblastomas on MR imaging allows a definitive diagnosis to be made. A single hemangioblastoma, however, should prompt funduscopic examination and abdominal imaging to rule out Von Hippel Lindau disease

 
   References Top

1.Smirniotopoulos FJ, Murphy FM. Central nervous system manifestations of the phakomatoses and other inherited syndromes. In: Atlas SW, ed. Magnetic resonance imaging of the brain and spine, 2nd ed. Philadelphia: Lippincott-Raven, 1996:794-797  Back to cited text no. 1    
2.Osborne AG. Diagnostic Neuroradiology: St Louis: Mosby, 1994:104-106  Back to cited text no. 2    

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Correspondence Address:
S Moorthy
Dept of Radiology, Amrita Institute of Medical Sciences, Amrita lane, Elamakara, Cochin 682 026
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]



 

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