British Journal of Radiology (2006) 79, 931-932
© 2006 British Institute of Radiology
doi: 10.1259/bjr/62312165
Various holes and lesions
S Punekar, MBBS, MRCP1,
D J A Butteriss, BSc, MBBS (Hons), FRCR2 and
D Birchall, MB BChir, FRCR2
1 Freeman Hospital, Newcastle upon Tyne, 2 Newcastle General Hospital, Newcastle upon Tyne, UK
Correspondence: Dr Samad Punekar, Radiology, Freeman Hospital, Newcastle Upon Tyne, High Heaton NE7 7DN, UK. E-mail: samad{at}doctors.org.uk.
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Introduction
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A 14-year girl presented with progressive painless visual loss in her right eye. She was otherwise well and on examination abnormal findings were localized to the right globe. Further questioning revealed that her mother had undergone surgery for a brain tumour several years previously. MRI of the brain and orbits pre- and post-administration of gadolinium was performed (Figure 1a–d
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Figure 1. (a) Cranial axial proton density-weighted image. (b) Axial post-gadolinium T1 weighted image. (c) Axial T2 weighted image. (d) Coronal post-gadolinium T1 weighted image.
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What are the MRI findings? What is the most likely diagnosis?
As a result of the cranial MRI findings, imaging of the abdomen was also performed (Figure 2).
What abnormality is shown? Does this help to confirm or disprove the diagnosis? What other abnormalities would you wish to exclude in this case?
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Discussion
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Figure 1
shows the presence of two synchronous central nervous system (CNS) lesions.
First, there is a proliferative process affecting the right retina, which fills most of the vitreous (Figure 1a). This demonstrates enhancement following gadolinium administration (Figure 1b). Second, there is a cystic abnormality in the right cerebellar hemisphere (Figure 1c), with an associated enhancing mural nodule laterally (Figures 1b,d). MRI of the abdomen showed several pancreatic cysts (Figure 2). These appearances are in keeping with the presence of retinal and cerebellar haemangioblastomas, features that in combination with a positive family history allow the diagnosis of von Hippel-Lindau disease (vHL). Pancreatic cysts are found in approximately 75% of patients with vHL.
vHL is an inherited multisystem disorder characterized by a variety of highly vascularized tumours of the CNS and the viscera, and is an eponym that carries the names of two eminent European physicians [1, 2]. Eugen von Hippel, a late 19th century German ophthalmologist, described familial retinal capillary angiomatosis in 1895, a lesion that has subsequently been coined "the von Hippel tumour" [3]. In 1926, Arvid Lindau, a Swedish neurologist, reported the occurrence of hereditary cerebellar haemangioblastoma (later termed "the Lindau tumour") and, having noted an association with retinal angiomatosis and renal cell carcinoma, linked the cerebellar, retinal and visceral components into a single coherent entity [4]. He corresponded with von Hippel, and their joint observations were subsequently widely disseminated, largely through the work of Harvey Cushing. The term "von Hippel-Lindau disease" was first used in 1936 by Davison et al [5].
The most characteristic lesion of vHL is the CNS haemangioblastoma, and these are the cause of the majority of morbidity and mortality associated with the condition. They are most common in the cerebellum, but may be found anywhere in the neuraxis from the cerebral hemispheres and optic nerves to the spinal cord. The typical appearance is of a cystic lesion with an avidly enhancing mural nodule, but there is a spectrum of appearances to a completely solid lesion. The cyst fluid is usually slightly hyperdense compared with cerebrospinal fluid (CSF). Simple cysts of multiple intra-abdominal organs including liver, pancreas, kidney and adrenal are common, with renal cell carcinoma (RCC) and phaeochromocytoma the most common non-CNS neoplastic abnormalities. vHL-associated RCCs act differently from sporadic RCCs and may be multiple, bilateral and cystic. Phaeochromocytomas in vHL occur in certain lineages only, and this has been used to classify the condition:
Diagnostic criteria are summarized below:
- CNS and retinal haemangioblastoma.
- Haemangioblastoma and at least one of the following: renal, pancreatic, hepatic, epididymal cyst. Phaeochromocytoma, renal carcinoma.
- Family history and at least one of the following: haemangioblastoma, visceral changes, phaeochromocytoma, renal cancer.
This disorder has an incidence of approximately 1 in 36 000 live births. It is a highly penetrant autosomal dominant trait, and has been attributed to a germline mutation of a tumour suppressor gene on the short arm of chromosome 3. Active research continues into the molecular consequences of the vHL gene.
Screening of affected patients and at-risk relatives is necessary because of the high incidence of RCC (occurring in up to 45% of cases) and because of the morbidity associated with CNS lesions. The Cambridge protocol was devised by Maher et al for screening patients with vHL disease or at-risk relatives [6]. Affected asymptomatic patients and at-risk relatives should have annual physical examination, ophthalmoscopy and urine testing, brain imaging every 3 years, and abdominal CT scanning every 3 years.
Treatment involves resection of the offending tumour, aspiration of the cysts causing pressure-related symptoms and cryotherapy or phototherapy of retinal lesions. Radiology has a central role in managing vHL. Because a conservative approach to the treatment of some vHL lesions is now more widely accepted, ongoing follow-up with careful cross-sectional imaging plays a central role in evaluating the progression of disease.
Received for publication July 21, 2005.
Accepted for publication October 11, 2005.
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References
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- Richard S, Graff J, Lindau J, Resche F. Von Hippel-Lindau disease. Lancet 2004;363:1231–4.[CrossRef][Medline]
- Lonser RR, Glenn G, Walther M, et al. Von Hippel-Lindau disease. Lancet 2003;361:2059–67.[CrossRef][Medline]
- Von Hippel E. Vorstellung eines Patienten mit einer sehr ungewohnlichen Netzhaut. XXIV Verstellung der ophthalmolgischen Gesellschaft (Heidelberg, 1895). Wisebaden, Germany: Bergmann Verlag, 1896:269
- Lindau A. Studien eber Kleinhirnzysten. Bau, Pathogenese und Beziehungen zur Angiomatosis retinae. Acta Pathol Microbiol Scand 1926;S1:1–128.
- Davison C, Brock S, Dyke CG. Retinal and central nervous hemangioblastomatosis with visceral changes (von Hippel-Lindau's disease). Bull Neurol Instit NY 1936;5:72–93.
- Maher ER, et al. Clinical features and natural history of von Hippel-Lindau disease. Quart J Med 1990;77:1151–63.[Abstract/Free Full Text]
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Introduction
Discussion
