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Journals / Journal of Contemporary Medicine / 2016 / Cilt: 6 - Sayı: 2

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

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

Nursel YURTTUTAN
Nagihan BİLAL
Betul KİZİLDAG
Tugba PAKSOY DOGRULUK
Uygar UTKU
Mehmet Akif SARİCA
Pages
108–121
Publication Date
2016-03-21
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Herein we report a rare case presenting with seizure accompanied computed tomography (CT), magnetic resonance imaging (MRI) findings and also with pathological confirmation.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Lipoid Proteinozis (LP) known as Urbach-Wiethe disease is a rare autosomal recessive inherited genodermatozis.
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Key Findings & Data:Patients usually present with hoarseness and skin-mucosa abnormalities.
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Conclusion & Impact:Herein we report a rare case presenting with seizure accompanied computed tomography (CT), magnetic resonance imaging (MRI) findings and also with pathological confirmation.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Bilgisayarlı tomografi · Lipoid proteinozis · Manyetik rezonans görüntüleme

Abstract

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.

Özet

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

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Cite This Article

YURTTUTAN, N., BİLAL, N., KİZİLDAG, B., DOGRULUK, T. P., UTKU, U., SARİCA, M. A. (2016). A Rare Cause of Seizure; Lipoid Proteinozis (Urbach-Wiethe disease): A Case Report. Journal of Contemporary Medicine, Cilt: 6 - Sayı: 2, 108–121. https://ajindex.com/articles/775526

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References (6)

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