A Case with Niemann-Pick Disease and Concomitant Kartagener’s SyndromeKartagener Sendromu’nun Eşlik Ettiği Bir Niemann-Pick Olgusu


Keklik M., Çetin M.

Erciyes Med J, vol.35, no.3, pp.174-176, 2013 (Peer-Reviewed Journal)

  • Publication Type: Article / Case Report
  • Volume: 35 Issue: 3
  • Publication Date: 2013
  • Journal Name: Erciyes Med J
  • Page Numbers: pp.174-176
  • Erciyes University Affiliated: Yes

Abstract

 
Case Report
A Case with Niemann-Pick Disease and Concomitant Kartagener’s Syndrome
Muzaffer Keklik ,  
Olgun Kontaş ,  
Fatih Kardaş ,  
Çiğdem Pala ,  
Mustafa Çetin ,  
Ali Ünal 
 
1 Department of Hematology, Faculty of Medicine, Erciyes University, Kayseri, Turkey  
2 Department of Internal Medicine, Faculty of Medicine, Erciyes University, Kayseri, Turkey  
3 Department of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey  
4 Department of Pathology, Faculty of Medicine, Erciyes University, Kayseri, Turkey  
5 Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Erciyes University, Kayseri, Turkey  
 
Erciyes Med J 2013; 35: 174-176
DOI: 10.5152/etd.2013.29
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Key Words: Bone marrow, Kartagener's Syndrome, Niemann- Pick disease
 
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.

 


 

Turkish

 

Başlık:

Kartagener Sendromu’nun Eşlik Ettiği Bir Niemann-Pick Olgusu

 

Anahtar Kelimeler:

Kemik iliği, kartagener sendromu, niemannpick hastalığı

 

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.