Öz
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.
Kaynakça
- Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA,
- Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;1:833-40.
- Appenzeller S, Chaloult E, Velho P, de Souza EM, Araújo VZ, Cendes F, Li LM. Amygdalae calcifications associated
- with disease duration in lipoid proteinosis. J Neuroimaging 2006;16:154–56.
- Thornton HB, Nel D, Thornton D, van Honk J, Baker GA, Stein DJ. The neuropsychiatry and neuropsychology
- of lipoid proteinosis. J Neuropsychiatry Clin Neurosci 2008;20:86–92.
- Wiest G, Lehner-Baumgartner E, Baumgartner C. Panic attacks in an individual with bilateral selective lesions of the amygdala. Arch Neurol 2006;63:1798–801.
- Claeys KG, Claes LR, Van Goethem JW, Sercu S, Merregaert J, Lambert J, Van Marck EA, Parizel PM, De Jonghe P. Epilepsy and migraine in a patient with Urbach-Wiethe disease. Seizure 2007;16(5):465-8.
- Omrani HG, Tajdini M, Ghelichnia B, Hosseini SM, Tafakhori A, Rahimian E, Aghamollaii V. Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature. J Neurol Sci 2012 Sep 15;320(1-2):149-52.
Öz
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
Kaynakça
- Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA,
- Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;1:833-40.
- Appenzeller S, Chaloult E, Velho P, de Souza EM, Araújo VZ, Cendes F, Li LM. Amygdalae calcifications associated
- with disease duration in lipoid proteinosis. J Neuroimaging 2006;16:154–56.
- Thornton HB, Nel D, Thornton D, van Honk J, Baker GA, Stein DJ. The neuropsychiatry and neuropsychology
- of lipoid proteinosis. J Neuropsychiatry Clin Neurosci 2008;20:86–92.
- Wiest G, Lehner-Baumgartner E, Baumgartner C. Panic attacks in an individual with bilateral selective lesions of the amygdala. Arch Neurol 2006;63:1798–801.
- Claeys KG, Claes LR, Van Goethem JW, Sercu S, Merregaert J, Lambert J, Van Marck EA, Parizel PM, De Jonghe P. Epilepsy and migraine in a patient with Urbach-Wiethe disease. Seizure 2007;16(5):465-8.
- Omrani HG, Tajdini M, Ghelichnia B, Hosseini SM, Tafakhori A, Rahimian E, Aghamollaii V. Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature. J Neurol Sci 2012 Sep 15;320(1-2):149-52.
Ayrıntılar
| Konular | Sağlık Kurumları Yönetimi |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 21 Mart 2016 |
| Yayımlandığı Sayı | Yıl 2016 Cilt: 6 Sayı: 2 |