2Department of Internal Medicine, Faculty of Medicine, Erciyes University, Kayseri, Turkey
3Department of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
4Department of Pathology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
5Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Abstract
Niemann-Pick disease is a rare lipid storage disorder with autosomal recessive inheritance, which is characterised by the accumulation of sphingomyelin and other sphingolipids in macrophages. Kartagener’s Syndrome is a syndrome with autosomal recessive inheritance consisting of chronic paranasal sinusitis, situs inversus, and bronchiectasis. Here we reported a case having Kartagener’s Syndrome with concomitant Niemann- Pick disease, as such a case has not been reported in the literature.
2Department of Internal Medicine, Faculty of Medicine, Erciyes University, Kayseri, Turkey
3Department of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
4Department of Pathology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
5Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Niemann-Pick Hastalığı, nadir bir lipid depo hastalığı olup otozomal resesif kalıtılır, makrofajlarda sfingomyelin ve diğer sfingolipidlerin birikimi ile karakterizedir. Kartagener Sendromu, otozomal resesif kalıtılan bir sendrom olup kronik paranazal sinüzit, situs inversus ve bronşiektazi triadını içerir.Bu çalışmada, Niemann-Pick Hastalığı ve Kartagener Sendromu birlikteliği olan bir olguyu, literatürde rastlanmamış olması nedeniyle sunduk.