Hemofagositik Lenfohistiyositoz ve Chediak Higashi Sendromu

Abstract

Chediak Higashi sendromu otozomal resesif kalıtılan ender bir hastalıktır. Okülokutanöz albinizm, immun yetmezlik, yineleyen enfeksiyonlar ve nörolojik bulgular ile karakteri- zedir. Akut başlangıçlı ateş, pansitopeni, hepatosplenome- gali, lenfadenopati ve kanama ile seyreden, yoğun lenfohis- tiyositik infiltrasyon ve makrofaj aktivasyonu görülen Hemofagositik Lenfohistiyositoz tablosu ölümcül olabil- mektedir. CHS vakalarının yaklaşık olarak % 85’i doğum- dan sonraki birkaç yıl içinde Hemofagositik lenfohistiyosi- toz tanısı alır. Tanı ve tedavisinde yaygın olarak HLH-2004 Tanı ve Tedavi Rehberi kullanılmaktadır. Tüm hücre tiple- rinde sitoplazmik dev granüllerin varlığı tipiktir. LYST geninde mutasyon gösterilmiştir. Kesin tedavisi ancak kök hücre nakli ile olası olabilmektedir. Bu makalede Hemofagositik Lenfohistiyositoz tablosunda başvuran 2 yaşındaki Chediak Higashi Sendromu vakası sunulmuştur

Keywords

• Chediak Higashi sendromu,hemofagositik lenfohistiyositoz,lenfadenopati,ateş

Hemophagocytic Lymphohystiocytosis and Chediak Higashi Syndrome

Abstract

Chediak Higashi syndrome is a rare, autosomal recessive disorder that is characterized by variable degrees of oculo- cutaneous albinism, immune deficiency, recurrent infecti- ons and neurological signs. Hemophagocytic lymphohysti- ocytosis which progresses with acute febrile disease, pancytopenia, hepatosplenomegaly, lymphadenopathy and bleeding disorders, and characterized by massive lymphohy- stiocytic infiltration and macrophage activation can be lethal. Cytoplasmic giant granules are typically seen in all types of cells. A mutation in the LYST gene has been shown. Nearly 85 % of the cases with CHS are diagnosed as hemophagocytic lymphohistiocytosis within a few years after birth. In the diagnosis and treatment prevalently 2004 Guideline of Diagnosis and Treatment of HLH has been used. Its definitive treatment can only be possible with bone marrow stem cell transplantation. Here, we report a case of a two year- old boy with Chediak Higashi Syndrome who presented with hemophagocytic lymphohystiocytosis

Keywords

• Chediak Higashi syndrome,hemophagocytic lymphohystiocytosis,lymphadenopathy,fever

References

1. Wendy ıntrone, raymond E. Boissy and William A. Gahl. Clinical, Molecular, and Cell Biological Aspects of Chediak– Higashi Syndrome. Mol Genet Metab 1999; 68:283-303. http://dx.doi.org/10.1006/mgme.1999.2927
2. Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med 2002;8:56-64. tosis: pathogenesis and treatment. Hematology Am Soc
3. Hematol Educ Program 2013; 2013:605-11. http://dx.doi.org/10.1182/asheducation-2013.1.605 and therapeutic guidelines for hemophagocytic lymphohisti- ocytosis. Pediatr Blood Cancer 2007;48:124-31. http://dx.doi.org/10.1002/pbc.21039 mophagocytic lymphohistiocytosis. Br J Haematol 2001;114: 9. http://dx.doi.org/10.1046/j.1365-2141.2001.02936.x naito M, et al. Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand 1994;89: 83. http://dx.doi.org/10.1111/j.1600-0404.1994.tb01657.x
4. Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM. Wintrobe’s Clinical Hematology. 12th ed. Philadelphia: Williams&Wilkins; 2009. p.1548-64.