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

• Published in: Turkish journal of haematology Vol. 32; no. 4; pp. 355 - 358
• Main Authors: Balcı, Yasemin Işık, Özgürler Akpınar, Funda, Polat, Aziz, Kenar, Fethullah, Tesi, Bianca, Greenwood, Tatiana, Yalçın, Nagihan, Koçyiğit, Ali
• Format: Journal Article
• Language: English
• Published: Turkey Galenos Publishing 01-12-2015; Galenos Publishing House
• Subjects: Amino Acid Substitution; Amphotericin B - therapeutic use; Aspergillosis - drug therapy; Aspergillosis - etiology; Aspergillosis - surgery; Bone Marrow Transplantation; Case Report; Combined Modality Therapy; Cyclosporine - therapeutic use; Debridement; Dexamethasone - therapeutic use; Drug Therapy, Combination; Etoposide - adverse effects; Etoposide - therapeutic use; Female; hemophagocytic lymphohistiocytosis; Humans; Immunocompromised Host; Infant; invasive aspergillosis infection; Lymphohistiocytosis, Hemophagocytic - genetics; Lymphohistiocytosis, Hemophagocytic - therapy; Medicin och hälsovetenskap; Membrane Proteins - genetics; Methotrexate - therapeutic use; Mutation, Missense; Nasal Septal Perforation - etiology; Nasal Septal Perforation - microbiology; Nasal Septal Perforation - surgery; Opportunistic Infections - drug therapy; Opportunistic Infections - etiology; Opportunistic Infections - surgery; p.ala59pro; Palate, Soft - microbiology; Point Mutation; Stomatitis - drug therapy; Stomatitis - etiology; Stomatitis - surgery; unc13d (c.175g>c
• ISSN: 1300-7777; 1308-5263; 1308-5263
• DOI: 10.4274/tjh.2014.0416

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 immunocompromised patients, fungal infections may cause nasal septum perforation and treatment could be achieved by antifungal therapy and debridement of necrotic tissue.