Nursel YURTTUTAN, Nagihan BİLAL, Betul KİZİLDAG, Tugba PAKSOY DOGRULUK, Uygar UTKU, Mehmet Akif SARİCA

Nadir Bir Nöbet Nedeni; Lipoid Proteinozis (Urbach-Wiethe hastalığı): Olgu Sunumu

et Urbach-Wiethe hastalığı olarak bilinen Lipoid Proteinozis (LP) nadir görülen otozomal resesif geçişli genodermatozdur. Hastalar genellikle ses kısıklığı ve cilt- mukoza anormallikleri ile başvururlar. Lipoid Proteinozis merkezi sinir sistemini nadiren tutar. Temel görüntüleme bulgusu çoğunlukla medial temporal loblarda meydana gelen atipik intrakranial kalsifikasyonlardır. Bu yazıda nöbet ile başvuran nadir bir LP olgusunun bilgisayarlı tomografi (BT), manyetik rezonans görüntüleme (MRG) bulguları patolojik konfirmasyon eşliğinde sunulmuştur

Anahtar Kelimeler:

Bilgisayarlı tomografi, Lipoid proteinozis, Manyetik rezonans görüntüleme, Nöbet

A Rare Cause of Seizure; Lipoid Proteinozis (Urbach-Wiethe disease): A Case Report

Lipoid Proteinozis (LP) known as Urbach-Wiethe disease is a rare autosomal recessive inherited genodermatozis. Patients usually present with hoarseness and skin-mucosa abnormalities. Lipoid Proteinozis involves the central nervous system (CNS) rarely. The essential imaging finding in LP is appearance of atypical intracranial calcifications, mostly occurring in the medial temporal lobes. Herein we report a rare case presenting with seizure accompanied computed tomography (CT), magnetic resonance imaging (MRI) findings and also with pathological confirmation.

Keywords:

Computed tomography; Lipoid proteinozis; Magnetic resonance imaging; Seizure,

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