The Case Of Congenitale Neutropenia Which Is Presented With Staphylococcal Omphalitis

Year 2013, Volume: 10 Issue: 38, 1596 - 1598, 01.04.2013

Mehmet Yekta Öncel , Ayşe Metin Celal Özcan Ümmühan Çay Elif Çelikel Halil İbrahim Yakut Sevim Ünal

Abstract

Kostmann Syndrome, severe congenital neutropenia, is characterized by an arrest in myeloid maturation at the promyelocyte stage of bone marrow, resulting in an absolute neutrophil count of less than 200/mm3. The disorder presents with recurrent otitis media, mastoiditis, pneumonia, omphalitis, lymhadenopathy, chronic gingivitis and skin abscess following birth. The majority of patients present with life-threatening infections during the first 6 months of life The significiant amount of patients 90% give good response to granulocyte colony stimulating factor G-CSF treatment. This case is reported to discuss the clinical feature and treatment of Kostmann Syndrome which is presented with staphylococcal omphalitis in neonatal period.

Keywords

Neutropenia, Infant, Newborn, Staphylococcal Infections, Granulocyte Colony-Stimulating Factor

Stafilooksik Omfalit İle Prezente Olan Konjenital Nötropeni Olgusu

Abstract

Kostmann sendromu, ağır konjenital nötropeni, kemik iliğinde miyelosit olgunlaşmasının promyelosit aşamasında duraklama, mutlak nötrofil sayısının MNS 200/mm3’den az olması ile karakterize bir hastalıktır. Yaşamın ilk aylarından itibaren hayatı tehdit eden infeksiyonlar, özellikle tekrarlayan otitis media, mastoidit, pnömoni, omfalit, lenfadenopati, kronik gingivit ve cilt apseleri ile prezente olur. Hastaların önemli bir kısmı %90 rekombinan insan granülosit koloni stimüle edici faktör G-CSF tedavisine iyi yanıt vermektedir. Bu olgu, yenidoğan döneminde stafilokoksik omfalit ile bulgu veren Kostmann sendromunun klinik özelliklerini ve tedavisini tartışmak amacıyla sunuldu.

Keywords

Nötropeni, Bebek, Yenidoğan, Stafilokokal Enfeksiyonlar, Granülosit koloni uyarıcı faktör

References

• Kostmann R. İnfantile genetic agranulocytosis. Acta Pediatr Scand 1956; 45 (Suppl 105) :1-78.
• Boxer LA. Neutrophil abnormalities. Pediatr Rev 2003; 24 (2) :52-62.
• Boxer L, Dale DC. Neutropenia: Causes and consequences. Semin Hematol 2002; 39 (2) :75-81.
• Carlsson G, Melin M, Dahl N. Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr 2007; 96 (6) :813–9.
• Rosenberg PS, Alter BP, Link DC. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol 2008; 140 (2):210-13.
• Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 2007; 109 (1) :93-9.
• Dale DC, Person RE, Bolyard AA. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96 (7) :2317-22.
• Horwitz MS, Duan Z, Korkmaz B. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007; 109 (5) :1817-24.
• Boxer LA, Stein S, Buckley D. Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. J Pediatr 2006; 148 (5) :633-6.
• Touw IP, Bontenbal M. Granulocyte colony- stimulating factor: key factor or innocent bystander in the development of secondary myeloid malignancy. J Natl Cancer Inst 2007; 99 (3) :183-6.
• Klein C, Grudzien M, Appaswamy G. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39 (1) :86-92.
• Cottle TE, Fier CJ, Donadieu J, Kinsey SE. Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony stimulating factor. Semin Hematol 2002; 39 (2) :134-40.
• Ozbek N. New insights into the genetics of congenital neutropenia. Turk J Hematol 2009; 26 (1) :1-8.
• Ziedler C, Schwinzer B, Welte K. Congenital Neutropenias. Rev Clin Exp Hematol 2003; 7 (1) :72-83.
• Welte K, Dale D. Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol 1996; 72 (4) :158-65.
• Freedman MH, Alter BP. Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. Semin Hematol 2002; 39 (2) :128-33.
• Yakisan E, Scbirg E, Zeidler C. High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann’s syndrome). J Pediatr 1997; 131 (4) :592-7.
• Ziedler C, Welte K, Barak Y. Stem cell transplantation patients with severe congenital neutropenia without evidence of leucemic transformation. Blood 2000: 95 (4) :1195-8.