Case Report
Year 2018,
Volume: 8 Issue: 2, 104 - 107, 29.06.2018
Abstract
ÖZET
Dorfman-Chanarin Sendromu, otozomal resesif geçişli nadir bir nötral lipit depo bozukluğudur.
Bu multisistemik hastalıkta nonbüllöz iktiyozis, vakuollü lökositler, miyopati, nöropati, sağırlık,
gelişme geriliği, göz ve karaciğer patolojileri izlenebilir. Bu yazı; nöropati, miyopati, iktiozis, kardiyomiyopati,
karaciğerde steatoz, sensörinöral tip işitme kaybı , bilateral optik atrofi, periferik
yaymada lipit yüklü vakuoller saptanan, aile öyküsü olmayan Chanarin Dorfman Sendromu tanısı
konulan olguyu içermektedir. Nötral lipit depo hastalığının geç dönemde de ayırıcı tanıda düşünülmesi
gereken nadir görülen bir hastalık olduğunu vurgulaması açısından bu vaka sunulmuştur.
Anahtar Sözcükler: İktiyozis, miyopati; Nötrofil vakuloizasyonu; Nötral lipit depo hastalığı;
Chanarin dorfman sendromu
References
- 1. Peña‐Penabad C, Almagro M, Martinez W, García‐Silva J, Del Pozo J, Yebra M, et al. Dorfman–Chanarin syndrome (neutral lipid storage disease): new clinical features. British J Dermatol. 2001;144(2):430-2. 2. Kaneko K, Kuroda H, Izumi R, Tateyama M, Kato M, Sugimura K, et al. A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. Neuromusc Disorders. 2014;24(7):634-41. 3. Pujol R, Gilaberte M, Toll A, Florensa L, Lloreta J, González‐ Enseñat M, et al. Erythrokeratoderma variabilis‐like ichthyosis in Chanarin–Dorfman syndrome. British J Dermatol. 2005;153(4):838-41. 4. Çamlar SA, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Dökmeci SE, et al. Chanarin-dorfman syndrome with multi-system involvement in two siblings. Tur J Hematol. 2013;30(1):72. 5. Wollenberg A, Geiger E, Schaller M, Wolff H. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereol. 2000;80(1):39-43. 6. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch of dermatol. 1974;110(2):261-6. 7. Chanarin I, Patel A, Slavin G, Wills E, Andrews T, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. British med j. 1975;1(5957):553. 8. Gurakan F, Kaymaz F, Kocak N, Ors U, Yuce A, Atakan N. Case Report: A Cause of Fatty Liver: Neutral Lipid Storage Disease with Ichthyosis—Electron Microscopic Findings. Digestive diseases and sciences. 1999;44(11):2214-7. 9. Özkale Y, Erol İ, Canan O, Durdu M. Chanarin Dorfman Sendromu: Olgu Sunumu. Cukurova Med J. 2015;40(3):614-8. Turkish. 10. Bilge S, Çınar SM, Aykaç S, Eyiipgil T. Myopatili Nötral Lipit Depo Hastalığı Olgu Sunumu. Turgut Özal Tıp Merk Derg. 2009;16(2). Turkish.
Year 2018,
Volume: 8 Issue: 2, 104 - 107, 29.06.2018
Abstract
References
- 1. Peña‐Penabad C, Almagro M, Martinez W, García‐Silva J, Del Pozo J, Yebra M, et al. Dorfman–Chanarin syndrome (neutral lipid storage disease): new clinical features. British J Dermatol. 2001;144(2):430-2. 2. Kaneko K, Kuroda H, Izumi R, Tateyama M, Kato M, Sugimura K, et al. A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. Neuromusc Disorders. 2014;24(7):634-41. 3. Pujol R, Gilaberte M, Toll A, Florensa L, Lloreta J, González‐ Enseñat M, et al. Erythrokeratoderma variabilis‐like ichthyosis in Chanarin–Dorfman syndrome. British J Dermatol. 2005;153(4):838-41. 4. Çamlar SA, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Dökmeci SE, et al. Chanarin-dorfman syndrome with multi-system involvement in two siblings. Tur J Hematol. 2013;30(1):72. 5. Wollenberg A, Geiger E, Schaller M, Wolff H. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereol. 2000;80(1):39-43. 6. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch of dermatol. 1974;110(2):261-6. 7. Chanarin I, Patel A, Slavin G, Wills E, Andrews T, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. British med j. 1975;1(5957):553. 8. Gurakan F, Kaymaz F, Kocak N, Ors U, Yuce A, Atakan N. Case Report: A Cause of Fatty Liver: Neutral Lipid Storage Disease with Ichthyosis—Electron Microscopic Findings. Digestive diseases and sciences. 1999;44(11):2214-7. 9. Özkale Y, Erol İ, Canan O, Durdu M. Chanarin Dorfman Sendromu: Olgu Sunumu. Cukurova Med J. 2015;40(3):614-8. Turkish. 10. Bilge S, Çınar SM, Aykaç S, Eyiipgil T. Myopatili Nötral Lipit Depo Hastalığı Olgu Sunumu. Turgut Özal Tıp Merk Derg. 2009;16(2). Turkish.
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Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | June 29, 2018 |
| Published in Issue | Year 2018 Volume: 8 Issue: 2 |
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