An Unusual Cause of Extremity Weakness: Von Hippel-Lindau Disease and Advantages of Radiologic Imaging on Diagnosis

Year 2015, Volume: 22 Issue: 3, 187 - 190, 14.12.2015

Cemile Ayşe Görmeli Zeynep Banu Aydın Gökay Görmeli Hasan Aydın Recep Dursun Ayşegül Kahraman Zeynep Özdemir Mehmet Akif Durak

Abstract

Von Hippel-Lindau disease is a rare autosomal dominant disease with the disorder matched with the short arm of chromosome 3. The prevalence of Von Hippel-Lindau disease has been estimated to be between 1:35000-1:40000. Retinal hemangioma and central nervous system (CNS) hemangioma are the main manifestations with later accompanying adrenal pheochromacytoma, paraganglioma, renal cell carcinoma, islet cell tumors, pancreatic cysts and neuroendocrine tumors, epididymal cysts, or cystadenoma and endolmphatic sac tumor of the inner ear. The disease is a multisystem disorder with phenotypic variability.

A 50-year-old man presented with a 2-month history of weakness of the right upper and lower limbs. Magnetic resonance imaging revealed cerebellar and spinal hemangioblastomas. In this case report, we present the radiologic images and clinical features of apatient with von Hippel-Lindau disease along with symptomatic central nervous system hemangioblastomas and multiple renal and pancreatic cysts.

Key Words: Hemangioblastoma; Pancreatic Cyst; Renal Cyst; Von Hippel-Lindau Disease.

Keywords

-

Journal of Turgut Ozal Medical Center

Abstract

Von Hippel Lindau Hastalığı, 3. kromozomun kısa kolundaki hasar nedeniyle oluşan nadir görülen otozomal dominant bir hastalıktır. Von Hippel Lindau Hastalığı'nın prevelansı 1:35000-1:40000 olarak bildirilmiştir. Retinal hemanjiom ve merkezi sinir sistemi hemanjiomları hastalığın ana belirtileri olmakla beraber adrenal feokromasitoma, paraganglioma, böbrek hücre tümörleri, pankreatik kistler, nöroendokrin tümörler ve epididim kistleri daha sonra eşlik edebilir. Bu hastalık fenotipik değişkenlik gösteren multi sistemik bir hastalıktır. Elli yaşında erkek hasta, 2 aydır devam eden sağ üst ve alt ekstremitede güçsüzlük öyküsü ile başvurdu. Manyetik rezonans incelemelerinde serebellar ve spinal hemanjioblastomlar; pankreatik ve renal kistler saptandı. Bu olguda merkezi sinir sisteminde semptomatik hemanjiomları, çoklu renal ve pankreatik kistleri olan Von Hippel Lindau tanısı alan olgunun radyolojik görüntülerini ve klinik seyrini sunmayı amaçladık

Keywords

Hemanjioblastom, Pankreatik Kist, Renal Kist, Von Hippel Lindau Hastalığı

References

• Latif F, Tory K, Gnarra J. Identification of the von Hippel-Lindau disease tumor supressor gene. Science 1993;260:1317-20.
• Lanser RR, Glenn GM, Walther M. Von Hippel-Lindau disease. Lancet 2003;361:2059-67.
• Atsushi K, Kennichi S, Shin H. Serous cystic neoplasms of the whole pancreas in a patient with von Hippel-Lindau disease. Intern Med 2011;50:1293-8.
• Matsuo T, Himei K, Ichimura K, Yanai H, Nose S, Mimura Tet al. Long-term effect of external beam raditherapy of optic disc hemangioma in a patient with von Hippel-Lindau. Acta Med. Okayama 2011;65:135-41.
• Shuin T, Tamura K, Okuda H, Furihata M, Ashida S. Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol 2006;36:337-43.
• Maher ER, Iselius L, Yates JRW. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991;28:443-7.
• Neumann HPH, Wiestler OD. Clustering of features of von Hippel Lindau syndrome: evidence for a complex genetic locus. Lancet 1991;337:1052-4.
• Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affecting 43 members of a single kindered. Medicine (Baltimore)1989;68:1-29.
• Richard S, David P, Marsot-Dupuch K, Giraud S, Beroud C, Resche F. Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease. Neurosurg Rev 2000;23:1-22.
• Col SB, Maj AR, Maj AM. A case of von Hippel Lindau disease. MJAFI 2007;63: 302-4.
• Traen S, Seynaeve P, Cardoen L, Carels K, Lecluyse C. Central nervous system lesions in von hippel-Lindau syndrome. JBR-BTR 2011;94:140-1.
• Filling-Katz MR, Choyke PL, Patronas NJ. Radiologic screening for von Hippel-Lindau disease: the role of Gd-DPTA enhanced MR imaging of the CNS. J Comput Assist Tomogr 1989;13:743-55.
• Chu BC, Satoshi T, Hida K, Frukawa M, Abe S, Miyasaka K. MR findings in spinal hemangioblastoma: correlation with symptoms and with angiographic and surgical findings. American Journal of Neuroradiology 2001;22:206-17.
• Tucer B, Ekici MA, Kazanci B, Guclu B. Hemangioblastoma of the filum terminale associated with von Hippel-Lindau disease: a case report. Turk Neurosurg 2013;23:672-5.
• P.C. Burger, B.W. Scheithauer, F.S. Vogel, Surgical Pathology of the Nervous System and its Coverings, 2002;4th ed.,Churchill Livingstone, Philadelphia.
• Ginzburg BM, Montanera WJ, Tyndel WJ, Griesman JA, McLennan MK, TerBrugge et al. Diagnosis of von Hippel-Lindau disease in a patient with blindness resulting from bilateral optic nevre hemangioblastomas. American Journal of Radiology 1992;159:403-5.
• Choyke PL, Glenn GM, Walther MM. The natural history of renal lesions in Von Hippel Lindau disease: a serial CT imaging study in 28 patients. American Journal of Radiology 1992;159:1229-34.
• Hamel PR, Vilgrain V, Terris B. Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d’Etude de la Maladie de von Hippel-Lindau. Gastroenterology 2000;119:1087-95.