Yasemin ÖZKALE, İlknur EROL, Oğuz CANAN, Murat DURDU

Chanarin Dorfman Sendromu: Olgu Sunumu

Chanarin Dorfman Sendromu multisistemik genetik geçişli metabolik hastalık olup konjenital iktiyozis ve çeşitli hücrelerde lipid depolanması ile ilişkilidir. İktiyozisli hastalarda periferik kan yaymasında nötrofillerde lipid vakuollerinin (Jordan’s anomalisi) gözlenmesi tanı için diagnostiktir. 1974 yılında Dorfman tarafından bildirilen ilk vakadan bu yana, literatürde büyük çoğunluğu Orta doğu ülkelerinden yaklaşık 50 vaka bildirilmiştir. Bu yazıda 5 yaşında kreatin kinaz yüksekliği nedeniyle hastanemize başvuran, klinik ve laboratuar bulguları ile Chanarin Dorfman Sendromu tanısı konulan bir vaka sunulmuştur.

Chanarin Dorfman Syndrome: A Case Report

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.

Keywords:

İchthyosis myopathy, vacuoles in neutrophils, neutral lipid storage disease, Chanarin Dorfman Syndrome,

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