Niemann - Pick disease associated with hemophagocytic syndrome
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 dise...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2010-12-01
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| Series: | Turkish Journal of Hematology |
| Subjects: | |
| Online Access: | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-99815 |
| _version_ | 1797918395457339392 |
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| author | Serap Karaman Nafiye Urgancı Günsel Kutluk Feyzullah Çetinkaya |
| author_facet | Serap Karaman Nafiye Urgancı Günsel Kutluk Feyzullah Çetinkaya |
| author_sort | Serap Karaman |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T13:29:29Z |
| format | Article |
| id | doaj.art-c83bfc58f81f4bd1ac6f623431ef0c3b |
| institution | Directory Open Access Journal |
| issn | 1300-7777 1308-5263 |
| language | English |
| last_indexed | 2024-04-10T13:29:29Z |
| publishDate | 2010-12-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Turkish Journal of Hematology |
| spelling | doaj.art-c83bfc58f81f4bd1ac6f623431ef0c3b2023-02-15T16:11:45ZengGalenos Publishing HouseTurkish Journal of Hematology1300-77771308-52632010-12-012704303307Niemann - Pick disease associated with hemophagocytic syndromeSerap KaramanNafiye UrgancıGünsel KutlukFeyzullah ÇetinkayaHemophagocytic 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.http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-99815Niemann-Pick diseasehemophagocytic syndromehemophagocytosis by Niemann-Pick cellhemophagocytosishemophagocytic lymphohistiocytosisHLH |
| spellingShingle | Serap Karaman Nafiye Urgancı Günsel Kutluk Feyzullah Çetinkaya Niemann - Pick disease associated with hemophagocytic syndrome Turkish Journal of Hematology Niemann-Pick disease hemophagocytic syndrome hemophagocytosis by Niemann-Pick cell hemophagocytosis hemophagocytic lymphohistiocytosis HLH |
| title | Niemann - Pick disease associated with hemophagocytic syndrome |
| title_full | Niemann - Pick disease associated with hemophagocytic syndrome |
| title_fullStr | Niemann - Pick disease associated with hemophagocytic syndrome |
| title_full_unstemmed | Niemann - Pick disease associated with hemophagocytic syndrome |
| title_short | Niemann - Pick disease associated with hemophagocytic syndrome |
| title_sort | niemann pick disease associated with hemophagocytic syndrome |
| topic | Niemann-Pick disease hemophagocytic syndrome hemophagocytosis by Niemann-Pick cell hemophagocytosis hemophagocytic lymphohistiocytosis HLH |
| url | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-99815 |
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