Mehmet Akif DURAK, Ayşegül KAHRAMAN, Zeynep ÖZDEMİR, Recep DURSUN, Zeynep Banu AYDIN, Hasan AYDIN, Gökay GÖRMELİ, Cemile Ayşe GÖRMELİ

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

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.

Ekstremite Güçsüzlüğünün Nadir Görülen Bir Sebebi: Von Hippel Lindau Hastalığı ve Radyolojik Görüntülemenin Tanıdaki Katkıları

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.

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