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Case 197


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Female patient, 44 years old, admitted with a recent case of ataxia and progressive holocranial headache, as well as reduced visual acuity in the left eye. Diagnosed with hypertension of difficult control, non-insulin dependent diabetes and amaurosis on the right eye (due to traumatic retinal detachment). Magnetic resonance imaging of the skull (image 1) and ophthalmoscopy of the left eye were requested and suggested a single etiology and guided the request for additional workup. (Images 2 to 4).

Taking into account the clinical presentation and the exams provided, what was the diagnostic hypothesis raised by the assistant team?

a) Polycystic kidney disease


b) Von Hippel-Lindau disease


c) Tuberous Sclerosis


d) Multiple Endocrine Neoplasia type 2


Image Analysis

Image 1: (a) T2-weighted image in the axial plane, showing mass lesion in the left cerebellar hemisphere, predominantly cystic, with solid areas and coarse septa in its lateral aspect. (b) T1-weighted image following administration of gadolinium, showing large cystic area with surrounding solid nodule in its lateral aspect, with important enhancement. The findings are consistent with cerebellar hemangioblastoma. Note the mass effect, with a slight compression of the fourth ventricle, which is shifted contralaterally.


Image 2: Contrast-enhanced CT demonstrating a heterogeneous solid mass with intense uptake of contrast by the right adrenal gland (red) suggestive of pheochromocytoma. A mass of similar characteristics in the left paravertebral topography is also identified (blue). In the pancreas, there are slight rounded formations, hypoattenuating, not contrasted by  iodine, consistent with cysts (red arrows). Inside the spinal canal there can be noted a small nodule with intense uptake contrast medium, suggestive of spinal intradural hemangioblastoma (yellow . Two round, hypoattenuating, non-iodine-accumulating images are visualized in the lower pole of the left kidney (green), characterizing simple kidney cysts (category 1 Bosniak).


Image 3: MRI in axial view, T2-weighted, demonstrating a hyperintense signal of the rounded cystic-like formations (yellow). In the right adrenal gland, the heterogeneous solid mass lesion presents with moderate hyperintensity in this sequence (red), confirming the diagnosis of pheochromocytoma. The left renal cysts are visible in this weighting with marked hyperintensity (green).


Image 4: Study performed 24 and 48 hours after administration of 5 mCi of 131Iodine-MIBG showed abnormal fixing of the material in the projection area of the adrenal glands (blue circle). Additional images with SPECT / CT technique in coronal, sagittal and transverse views, demonstrate increased uptake in the right adrenal and in two focal areas to the left, adjacent, which are most likely to be the left adrenal gland and the paraganglioma (in yellow). This exam confirms the neuroendocrine origin of the suspicious masses on the images 6 and 7.


- The von-Hippel Lindau Syndrome  is an dominant autosomic syndrome with high penetrance and striking pleiotropism resulting from the VHL mutation, a tumor suppressor gene;

- The most common manifestations are hemangioblastomas of the central nervous system and retina, as well asrenal lesions and pheochromocytoma;

- Clinical manifestations can permit the diagnosis but a genetic study is recommended for all suspected cases and for individuals with a family history;

- Treatment is mainly based on local therapy for lesions present;

- Strict monitoring by screening and research protocols of related lesions is crucial to reduce morbidity and mortality.


- Maher ER, Neumann HPH, Richard S. Von Hippel-Lindau disease: A clinical and scientific review. European Journal Human Genetics 2011; 19: 617-623.

- Schmid S, Gillessen S, Binet I, Brandle M, Engeler D, Greiner J, et al. Management of von Hippel-Lindau Disease: An Interdisciplinary Review. Oncol Res Treat 2014;37:761-771.

- Plon SE, Jonasch E. Clinical Features, diagnosis, and management of von Hippel-Lindau disease. UpToDate. Available at: Access in: June 15th 2015.

- Grantham JJ. AutosomalDominantPolycysticKidneyDisease.N Engl J Med, Oct-2008; 359(14); 1477-1485

- Gulani AC, Defendi GL. Von Hippel-LindauDisease. Medscape. Available at: Access in: June 15th 2015.

- Leung RS, Biswas SV, Duncan M, Rankin S. Imaging Features of von Hippel-Lindau Disease. RadioGraphics 2008; 28:65-79.


André Ribeiro Guimarães, 6th year medical student at Faculdade de Medicina da Universidade Federal de Minas Gerais.

E-mail: guimaraesandrer[at]


Júlia Alvarenga Petrocchi, 6th year medical student at Faculdade de Medicina de Universidade Federal de Minas Gerais.

E-mail: juliapetrocchi[at]


Luciana Costa, radiologist and professor of the Anatomy and Imaging Department of the Faculdade de Medicina da UFMG.


Luanna Monteiro, Daniela Braga, Ana Júlia Bicalho, Raíra Cezar, Letícia Horta, Marina Leão and Professor Viviane Parisotto.


Thank you to the Nuclear Medicine residents of the Hospital das Clínicas-UFMG for their kindness in giving us the imaging study with 131I-MIBG.

Translated by

Bárbara de Queiroz e Bragaglia, 6th year medical student at Faculdade de Medicina da UFMG.

E-mail: barbara.bragaglia[at]


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