ISSN: 1300-7777 E-ISSN: 1308-5263
Niemann - Pick disease associated with hemophagocytic syndrome [Turk J Hematol]
Turk J Hematol. 2010; 27(4): 303-307 | DOI: 10.5152/tjh.2010.54  

Niemann - Pick disease associated with hemophagocytic syndrome

Serap Karaman1, Nafiye Urgancı2, Günsel Kutluk3, Feyzullah Çetinkaya3
1Department Of Pediatric Hematology, Şişli Etfal Training And Research Hospital, İstanbul, Turkey
2Department Of Pediatric Gastroenterology, Şişli Etfal Training And Research Hospital, İstanbul, Turkey
3Clinics Of Pediatrics, Şişli Etfal Training And Research Hospital, İstanbul, Turkey

Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations. Niemann-Pick disease (NPD) is a very rare lipid storage disease. A three-month-old girl presented with high fever (39°C), abdominal distension and paleness. The parents were consanguineous. The liver and spleen were palpable 10 cm and 11 cm below the costal margins, respectively. Bicytopenia (Hb: 5.5 g/dl, platelet: 77000/mm3), hypertriglyceridemia (351 mg/dl), hyperferritinemia (>1500 ng/dl) and hypofibrinogenemia (120 mg/dl) were detected. Bone marrow aspiration demonstrated foam cells and hemophagocytosis by macrophages and Niemann-Pick cells. Lysosomal sphingomyelinase activity was 0.24 nmol/h/mg/protein (normal: 0.86-2.8). Due to the parents’ refusal of further evaluation, the nature of HLH as primary or secondary could not be determined. To the best of our knowledge, this is the first case of NPD associated with HLH and the first demonstration of hemophagocytosis by Niemann-Pick cells.

Keywords: Niemann-Pick disease, hemophagocytic syndrome, hemophagocytosis by Niemann-Pick cell, hemophagocytosis, hemophagocytic lymphohistiocytosis, HLH


Hemofagositik sendrom ve Niemann-Pick hastalığı birlikteliği

Serap Karaman1, Nafiye Urgancı2, Günsel Kutluk3, Feyzullah Çetinkaya3
1Şişli Etfal Eğitim Ve Araştırma Hastanesi, Pediatrik Hematoloji Bölümü, İstanbul
2Şişli Etfal Eğitim Ve Araştırma Hastanesi, Pediatrik Gastroenteroloji Bölümü, İstanbul
3Şişli Etfal Eğitim Ve Araştırma Hastanesi, Pediatri Kliniği, İstanbul

Hemofagositik lenfohistiositoz (HLH), lenforetiküler dokudaki makrofajların kan hücrelerini fagosite etmesiyle karakterize olan, genetik olarak mutasyonlara bağlı ailevi veya bazı hastalıklara ikincil gelişen bir hastalıktır. Nieman-Pick hastalığı ise bir lipid depo hastalığı olup son derece nadir görülmektedir. Üç aylık kız hasta yüksek ateş (39°C), karın şişliği ve solukluk nedeni ile başvurdu. Ebeveynler arasında ikinci derecede akrabalık vardı. Karaciğer 10 cm, dalak 11 cm ele geliyordu. Hastada bisitopeni (Hb: 5,5 gr/dl, trombosit: 77000/mm3), hipertrigliseridemi (351 mg/dl), hiperferritinemi (>1500 ng/dl), hipofibrinojenemi (120 mg/dl) tesbit edildi. Kemik iliği aspirasyonunda köpük hücresi, makrofajlar ve Niemann-Pick hücreleri tarafından yapılan hemofagositoz görüldü. Lizozomal sfingomyelinaz aktivitesi 0.24 nmol/hr/mg/ptn (normal: 0.86-2.8) bulundu. Hastadaki HLH’nin primer veya sekonder olduğu, ailenin tetkiki kabul etmemesi nedeni ile incelenemedi. Olgumuz literatürde Niemann-Pick ile birlikte HLH’nin saptandığı ilk vakadır ve Niemann-Pick hücresinin de hemofagositoz yaptığı ilk kez gösterilmiştir.

Anahtar Kelimeler: Niemann-Pick Hastalığı, hemofagositik sendrom, Niemann-Pick hücresinin hemofagositozu, hemafagositoz, hemofagositik lenfohistiositoz, HLH


Serap Karaman, Nafiye Urgancı, Günsel Kutluk, Feyzullah Çetinkaya. Niemann - Pick disease associated with hemophagocytic syndrome. Turk J Hematol. 2010; 27(4): 303-307

Corresponding Author: Serap Karaman, Türkiye


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