ISSN: 1300-7777 E-ISSN: 1308-5263
A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication [Turk J Hematol]
Turk J Hematol. 2015; 32(4): 355-358 | DOI: 10.4274/tjh.2014.0416  

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication

Yasemin Işık Balcı1, Funda Özgürler Akpınar2, Aziz Polat1, Fethullah Kenar3, Bianca Tesi4, Tatiana Greenwood4, Nagihan Yalçın5, Ali Koçyiğit6
1Pamukkale University Faculty of Medicine, Department of Pediatric Hematology, Denizli, Turke
2Pamukkale University Faculty of Medicine, Department of Pediatrics, Denizli, Turkey
3Pamukkale University Faculty of Medicine, Department of Otorhinolaryngology, Denizli, Turkey
4Karolinska University Hospital Huddinge, Stockholm, Sweden
5Pamukkale University Faculty of Medicine, Department of Pathology, Denizli, Turkey
6Pamukkale University Faculty of Medicine, Department of Radiology, Denizli, Turkey

Hemophagocytic lymphohistiocytosis (HLH) represents a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired function of natural killer cells and cytotoxic T lymphocytes. A 2-month-old girl, who was admitted with fever, was diagnosed with HLH and her genetic examination revealed a newly defined mutation in the UNC13D (c.175G>C; p.Ala59Pro) gene. She was treated with dexamethasone, etoposide, and intrathecal methotrexate. During the second week of treatment, after three doses of etoposide, it was noticed that there was a necrotic plaque lesion on the soft palate. Pathologic examination of debrided material in PAS and Grocott staining revealed lots of septated hyphae, which was consistent with aspergillosis infection. Etoposide was stopped and amphotericin B treatment was given for six weeks. HLH 2004 protocol was completed to eight weeks with cyclosporine A orally. There was no patient with invasive aspergillosis infection as severe as causing palate and nasal septum perforation during HLH therapy. In immuncompromised patients, fungal infections may cause nasal septum perforation and treatment could be achieved by antifungal therapy and debridement of necrotic tissue.

Keywords: Hemophagocytic lymphohistiocytosis, Invasive aspergillosis infection, UNC13D (c.175G>C, p.Ala59Pro)


Yeni Tanımlanan UNC13D (c.175G>C; p.Ala59Pro) Mutasyonlu Hemofagositik Lenfohistiositozlu Bir Hasta ve Nadir Komplikasyon

Yasemin Işık Balcı1, Funda Özgürler Akpınar2, Aziz Polat1, Fethullah Kenar3, Bianca Tesi4, Tatiana Greenwood4, Nagihan Yalçın5, Ali Koçyiğit6
1Pamukkale University Faculty of Medicine, Department of Pediatric Hematology, Denizli, Turke
2Pamukkale University Faculty of Medicine, Department of Pediatrics, Denizli, Turkey
3Pamukkale University Faculty of Medicine, Department of Otorhinolaryngology, Denizli, Turkey
4Karolinska University Hospital Huddinge, Stockholm, Sweden
5Pamukkale University Faculty of Medicine, Department of Pathology, Denizli, Turkey
6Pamukkale University Faculty of Medicine, Department of Radiology, Denizli, Turkey

Hemofagositik lenfohistiositoz (HLH) uzamış ateş, sitopeni, hepatosplenomegali semptomları ile seyreden, active olmuş, morfolojik olarak benign makrofaj ve doğal öldürücü hücreler ile sitotosik T lenfosit fonksiyon bozukluğu sonucu gelişen hiperenflamatuvar bir durumdur. İki aylık düşmeyen ateş yakınması ile başvuran hasta HLH tanısı aldı ve hastanın genetik incelemesinde UNC13D (c.175G>C; p.Ala59Pro) geninde yeni tanımlanan bir mutasyon saptandı. Hastaya deksamatazon, etopozit ve intratekal metotreksat tedavileri başlandı. Tedavinin 2. haftasında, üç doz etopozit aldıktan sonra, yumuşak damakta plak lezyonu fark edildi ve bu nekrotik lezyon debride edildi. Debridman materyalinin patolojik incelemesinin PAS, Grocott boyamasında aspergilloz enfeksiyonu ile uyumlu olarak çok sayıda septalı hif görüldü. Etopozid tedavisi sonlandırılarak altı hafta boyunca amphotericin B tedavisi verildi. HLH 2004 tedavi protokolü oral siklosporin ile sekiz haftaya tamamlandı. HLH tedavisi sırasında yumuşak damak perforasyonuna neden olacak kadar ağır aspergilloz enfeksiyonu geçiren bir olgu bildirilmemiştir. İmmünyetmezlikli hastada mantar enfeksiyonları nazal septum perforasyonuna neden olabilmektedir ve tedavi nekrotik dokunun debridmanı ve antifungal tedavi ile sağlanabilmektedir.

Anahtar Kelimeler: Hemofagositik lenfohistiositoz, İnvaziv aspergilloz enfeksiyonu, UNC13D (c.175G>C, p.Ala59Pro)


Yasemin Işık Balcı, Funda Özgürler Akpınar, Aziz Polat, Fethullah Kenar, Bianca Tesi, Tatiana Greenwood, Nagihan Yalçın, Ali Koçyiğit. A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication. Turk J Hematol. 2015; 32(4): 355-358

Corresponding Author: Yasemin Işık Balcı, Türkiye


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