Author/Authors :
Özkale, Yasemin Başkent Üniversitesi - Tıp Fakültesi, Adana Uygulama ve Araştırma Merkezi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Turkey , Erol, İlknur Başkent Üniversitesi - Tıp Fakültesi, Adana Uygulama ve Araştırma Merkezi - Pediatrik Nöroloji Bilim Dalı, Turkey , Canan, Oğuz Başkent Üniversitesi - Tıp Fakültesi, Adana Uygulama ve Araştırma Merkezi - Pediatrik Gastroenteroloji Bilim Dalı, Turkey , Durdu, Murat Başkent Üniversitesi - Tıp Fakültesi, Adana Uygulama ve Araştırma Merkezi - Dermatoloji Anabilim Dalı, Turkey
Abstract :
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly) in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings.
NaturalLanguageKeyword :
İchthyosis , myopathy , vacuoles in neutrophils , neutral lipid storage disease , Chanarin Dorfman Syndrome
