Vildan Çulha

IMMUNOLOGICAL STATUS OF THALASSEMIA SYNDROME

A major cause of morbidity and mortality in thalassemic patients is infections, assumed to be the result of immunological changes. In this study immune functions of peripheral blood lymphocytes have been studied in 38 g -thalassemia major, 12 g -thalassemia trait, and 17 healthy children. Results show decrease in CD4 + /CD8 + ratios in the g -thalassemia major group and no difference according to absolute T-lymphocyte numbers and activ ated T-cell numbers. These results do not correlate with the tendency to infection. No significant difference was found in humoral immunity. The study of other factors in thalassemia is needed to detect those who are more susceptible to infections.

Recurrent arterial thrombosis in a child: primary antiphospholipid antibody syndrome.

Antiphospholipid antibody syndrome (APS) is characterized by the association of recurrent arterial or veneous thrombosis or recurrent fetal wasteage and the presence of circulating antiphospholipid antibodies, detected as anticardiolipin antibodies or lupus anticoagulant. The authors report an 8-year-old girl, who presented with central retinal artery occlusion and livedo reticularis and was diagnosed as APS. Despite the proper anticoagulant treatment she had several cerebral ischemic events a nd died 29 months after thediagnosis. A larger number of pediatric case investigations will be required for better understanding and treating this rare thrombotic disorder.

Staphylococcal Pyomyositis in a Child with Fanconi Aplastic Anemia

Pyomyositis is a primary infection of the skeletal muscles, usually present as single or multiple abscess formation. Early diagnosis is frequently difficult in nontropical countries because of the rarity of this condition and low-suspicion index of the disease, especially if the affected muscle is deeply situated and local signs are not apparent [1–4]. Here, we reported a 14-year-old girl with Fanconi aplastic anemia (FAA) and pyomyositis. We presented this case due to the rarity and potential fatality of the condition. We also aimed to increase awareness of the disease among pediatric hematologists, because the disease must be considered among differential diagnoses of hip and/or abdominal pain. The patient has been followed up in our hospital for 1 year and receiving oxymethalon treatment at a dosage of 2 mg/kg/day. However, she still needed transfusion and frequent hospitalization for febrile neutropenia episodes. She was receiving meropenem, teicoplanin, and liposomal amphotericin B for febrile neutropenia during the last 2 weeks. She again had fever and additional complaints of malaise, swelling, and pain on her right thigh for the last 2 days. She did not have a history of recent trauma. Her body temperature was 39 ◦ C; pulse, 100/min; respiratory rate, 20/min; and blood pressure, 110/80 mmHg. On her physical examination, there was a 5 cm in diameter purple, tender, and slightly fluctuant lesion on the right thigh (Figure 1). The rest of the examination was unremarkable. On her laboratory studies, her hemoglobin (Hb) was 8 g/dL; hematocrit (Htc), 24%; white blood cell count (WBC), 1600/mm 3 with 52% neutrophils, 34% lymphocytes, and 14% monocytes; mean corpuscular volume, 92 fL; and platelet (Plt) count, 38000/mm 3 .H er aspartate aminotransferease (AST) was 126 U/L (normal: 0–37 U/L); alanine aminotransferase (ALT), 253 U/L (normal: 0–41 U/L); and γ -glutamyltransferase (GGT), 203 U/L (normal: 8–61 U/L). Other biochemical parameters were within normal range. The erythrocyte sedimentation rate (ESR) was 92 mm/h. The C-reactive protein (CRP) level was 38.4 mg/dL (normal: 0–0.8 mg/dL). The serum creatine kinase (CK) level was elevated from 34 to 1159 U/L (normal: 38–400 U/L). Direct radiography of the right thigh was unremarkable. Musculoskeletal ultrasonography (USG) was performed at the same day and revealed generalized edema and heterogeneity in the skin,

Clinical features and treatment of primary autoimmune hemolytic anemia in childhood

BACKGROUND AND AIM Autoimmune hemolytic anemia (AIHA) is characterized by autoimmune destruction of erythrocytes. In this retrospective study, the clinical, laboratory features and treatment responses of patients with primary AIHA were evaluated. MATERIAL AND METHODS 21 consecutive patients diagnosed with primary AIHA in a childrens hospital from 2008 to 2016 were included. Clinical, laboratory findings and treatment responses were analyzed. RESULTS Twenty-one patients, aged 6 months-15 years, with direct antiglobulin test positive anemia were presented. Pallor and jaundice were the common complaints and icterus and hepatomegaly /splenomegaly was the most common physical findings. Thirteen patients (62%) had a previous infection history. At the time of diagnosis, hemoglobin level was 3-10.5 g/dL. Fifty- eight percent of patients had IgG reactivity and 29.4% patients had both IgG and C3d reactivity. Eight patients were given methylprednisolone, 11 patients received prednisone and 14 patients received intravenous immunoglobulin. Five patients (23.8%) were transfused due to severe anemia. Two patients did not need any treatment. The response rate following first-line treatment was 94%. One patient who did not respond any treatment died of infection. CONCLUSION Primary AIHA is an acute illness mostly self-limiting or requiring short-term steroid therapy. Rarely, it might be resistant to immunosuppressive treatment and be mortal.

Hemophagocytic Lymphohistiocytosis: A Confusing Problem of the Diagnosis of Visceral Leishmaniasis

15-month-old boy was referred to our clinic for evaluation of fever and pancytopenia for 10 days. Physical examination was normal except pallor and hepatosplenomegaly (HSM). Laboratory investigation revealed hemoglobin 7.9 g/dL, leukocyte count 3.2 9 10/L, absolute neutrophil count 0.6 9 10/L and platelet count 35 9 10/L. The peripheral blood smear demonstrated 10% atypical lymphocytes resembling virocytes; other blood cells were normal appearance. Serum lactate dehydrogenase level was 1596 U/L, triglyceride 262 mg/dL, fibrinogen 102 mg/dL, and ferritin level was 9356 ng/mL. Vitamin B12 level was very low (65 pg/mL). There was no serological evidence of infection, such as hepatitis A, hepatitis B and hepatitis C, cytomegalovirus, Epstein-Barr virus, human immunodeficiency virus, and toxoplasmosis. The first bone marrow aspirate was hypercellular with the presence of dysmyelopoiesis, numerous histiocytes engulfing erythroid cells, neutrophils and lymphocytes leading to a suspicion of hemophagocytic lymphohistiocytosis (HLH) (Fig. 1). No parasites were detected. Prompt wide spectrum antibiotics, intravenous immune globulin and intramuscular vitamin B12 therapies were started, nevertheless fever and HSM were not resolved and HLH 2004 protocol was added to his treatment and evaluation of familial HLH mutations were planned. Though his clinical condition was well, his fever and laboratory finding worsened in spite of etoposide, cyclosporine and dexamethasone combinations and antibiotic modifications. Bone marrow aspiration was repeated 4th week of HLH protocol. Several amastigote form of Leishmania was demonstrated (Fig. 2). Because the patient was not from an endemic area for leishmaniasis, no serological test was performed before second bone marrow. His fever, pancytopenia and organomegaly were resolved with liposomal amphotericin B therapy and HLH protocol was discontinued after 8 week. Visceral leishmaniasis is a chronic and frequently lethal disease caused by protozoal parasites of the Leishmania donovani [1]. Usually manifests by fever, hepatosplenomegaly, and pancytopenia. The clinical spectrum of visceral leishmaniasis is highly variable. Several reports of HLH secondary to leishmaniasis have been published. Amastigote sequestration and chronic intracellular infection of macrophages trigger uncontrolled macrophage activation, with secretion of proinflammatory cytokines and subsequent HLH development [2].

Effects of stem cell transplantation on bone mineral density and vitamin D status in children with thalassemia major

HSCT is a curative treatment in TM, but conditioning and immunosuppressive treatment may affect bone metabolism. In this retrospective study, we aimed to compare BMD, vitamin D status, and growth in children with TM who underwent HSCT to those in children with TD TM. Twenty‐three children with TM who underwent HSCT (mean age 7.1 years [1.03‐14.7]) and 24 children with TD thalassemia (mean age 9.8 years [1.6‐14]) were recruited. Lumbar spine BMD of TD thalassemia patients was higher than those in patients who had HSCT at both baseline and second‐year assessments (P=.009, P<.001, respectively). However, BMD Z scores or serum 25‐OH vitamin D levels were not different in two groups. Being >10 years of age was a significant risk factor for low BMD, height, and weight Z score for both groups. Patients who underwent HSCT with Pesaro risk class II or III had higher risk for low BMD compared to those risk class I patients (P=.044). In conclusion, children with TM who were >10 years at HSCT are at risk for low BMD and growth retardation. HSCT had no effect on BMD deficit in children with TM.

Trombocytopenia related to colchicine: report of two cases -

Familial Mediterranean fever (FMF) is the most frequent autoinflammatory disease which can be well controlled with lifelong use of colchicine. Daily colchicine use has been shown to reduce the frequency, severity, and duration of attacks. Colchicine also has been found to be effective in decreasing the prevalence of amyloidosis. Therapeutic oral dose of colchicine (0.5-2.0 mg/ day) may cause cramping, abdominal pain, hyperperistalsis, diarrhea and vomiting. Besides, colchicine may rarely cause bone marrow failure, agranulocytosis and/ or thrombocytopenia as well. Here in we report two pediatric cases of FMF who developed trombocytopenia after colchicine medication and call attention to colchicine related trombocytopenia.