Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome

AKÇAY ,Arzu; ŞAHİN ,Filiz DEMİR; ŞEN ,Aşkın

doi:10.4274/tjh.galenos.2020.2020.0242

Arzu AKÇAY

(İnönü Üniversitesi, Tıp Fakültesi, Çocuk Hematoloji ve Onkoloji Anabilim Dalı, Malatya, Türkiye)

Filiz DEMİR ŞAHİN

(İnönü Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Malatya, Türkiye)

Aşkın ŞEN

(Fırat Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Elazığ, Türkiye)

Turkish Journal of Hematology

Yıl: 2020Cilt: 37Sayı: 4ISSN: 1300-7777 / 1308-5263Sayfa Aralığı: 299 - 300Metin Dili: İngilizce

DOI: https://doi.org/10.4274/tjh.galenos.2020.2020.0242

50 0

İngilizce
Türkçe

Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome

Abstract:

Keywords:

Subject Area:

Belge Türü: DergiMakale Türü: title.paper.letter_to_editorErişim Formatı: Erişime Açık

1. Bruno C, Bertini E, Di Rocco M, Cassandrini D, Ruffa G, De Toni T, Seri M, Spada M, Li Volti G, D’Amico A, Trucco F, Arca M, Casali C, Angelini C, Dimauro S, Minetti C. Clinical and genetic characterization of ChanarinDorfman syndrome. Biochem Biophys Res Commun 2008;369:1125-1128.
2. Arslansoyu Çamlar S, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Emre Dökmeci S, Anal O, Köse G. Chanarin-Dorfman syndrome with multi-system involvement in two siblings. Turk J Hematol 2013;30:72-75.
3. Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 2003;121:1029-1034.
4. Eskiocak AH, Missaglia S, Moro L, Durdu M, Tavian D. A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. Lipids Health Dis 2019;18:232-237.
5. Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud’homme JF, Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001;69:1002-1012.
6. Barnérias C, Bassez G, Schischmanoff O. Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one. Med Sci 2015;31:11-13.
7. Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D. Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis 2010;5:33.
8. Mitra S, Samanta M, Sarkar M, Chatterjee S. Dorfman-Chanarin syndrome: A rare neutral lipid storage disease. Indian J Pathol Microbiol 2010;53:799- 801.
9. Tavian D, Colombo R. Improved cytochemical method for detecting Jordans’ bodies in neutral lipid storage diseases. J Clin Pathol 2007;60:956-958.