Malignancy-associated hemophagocytic lymphohistiocytosis in pediatric cases: a multicenter study from Turkey.

This study evaluates the clinical and laboratory data of children with secondary hemophagocytic lymphohistiocytosis (sHLH) related to malignancy. Charts of patients who met the diagnostic criteria for sHLH associated with malignancy between January 2000-2006 at six different hospitals in Turkey were reviewed retrospectively. The diagnosis of HLH had been established by bone marrow aspiration in 27 patients, cerebrospinal fluid and bone marrow aspiration in one patient and lung-liver biopsy in another.

Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors.

Factor VIII (FVIII) replacement therapy is ineffective in hemophilia A patients who develop alloantibodies (inhibitors) against FVIII. The type of factor 8 (F8) gene mutation, genes in the major histocompatibility complex loci, and also polymorphisms in IL-10 and tumor necrosis factor-alpha are the major predisposing factors for inhibitor formation. The present study was initiated to reveal the F8 gene mutation profile of 30 severely affected high-responder patients with inhibitor levels of more than 5 Bethesda U (BU)/ml and four low-responder patients with inhibitors less than 5 BU/ml.

A case of congenital agenesis of the right pulmonary artery presenting with hemoptysis and mimicking pulmonary hemosiderosis.

Congenital unilateral absence of a pulmonary artery is a rare anomaly most frequently accompanied by other cardiovascular anomalies. We report a 10-year-old girl presenting with fatigue and recurrent hemoptysis who was initially misdiagnosed with idiopathic pulmonary hemosiderosis. Her symptoms did not resolve despite treatment so she was referred to our center for further evaluation.

Dysgerminoma in a child with ataxia-telangiectasia.

Ataxia-telangiectasia is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, high incidence of cancer, and increased sensitivity to ionizing radiation. The authors report a case of dysgerminoma in a child with high alpha-fetoprotein, CA125 and beta-human chorionic gonadotropin, who has been followed-up for ataxia-telangiectasia for 2 years.

Autoimmune hemolytic anemia as presenting manifestation of primary splenic anaplastic large cell lymphoma.

Autoimmune hemolytic anemia (AIHA) is an unusual complication of malignancy. We diagnosed primary splenic anaplastic large cell lymphoma (ALCL) in a patient. A seven-year-old boy presented with Coombs test-positive hemolytic anemia.

Pyoderma gangrenosum in a battered child.

Pyoderma gangrenosum is an uncommon cutaneous ulceration, which continues to be a difficult disorder to diagnose and treat. A pediatric case of pyoderma gangrenosum with no associated systemic disorder is presented. The disease was precipitated by physical trauma.

A Burkitt's lymphoma case with eyelid, renal and pulmonary involvement.

An eight-year-old boy was admitted with a three-week history of painless masses on the left upper eyelid, in front of the left ear and on the left side of his jaw. On examination, there was a 3x2 cm tumor on the left upper eyelid, and lymphadenopathies in front of the tragus and in the left submandibular area were observed in the absence of hepatosplenomegaly. Complete blood count, peripheral smear and bone marrow aspiration were normal.

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

The LEOPARD syndrome is a complex of multisystemic congenital abnormalities characterized by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q24.1, have been identified in 88% of patients with LEOPARD syndrome.

Successful treatment of acute lymphoblastic leukemia with L-asparaginase-induced intracranial hemorrhage to activated recombinant factor VIIa in a child.

L-Asparaginase, a major component of therapy in children with acute lymphoblastic leukemia, has been shown to induce coagulopathy by inhibiting synthesis of clot-forming and clot-inhibitory proteins. The authors report the successful use of recombinant factor VIIa in a 15-year-old girl with acute lymphoblastic leukemia who had L-asparaginase-induced intracranial hemorrhage. The present case is the first to demonstrate use of rFVIIa in L-asparaginase-induced intracranial hemorrhage in a child with acute lymphoblastic leukemia.

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population.

The 657del5 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). We identified four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657del5 mutation. The 657del5 allele in the four Turkish families had a single origin.

Hepatoblastoma in a child with neurofibromatosis type I.

A major hallmark of NF1 is the development of benign tumors, including peripheral neurofibromas, plexiform neurofibromas, gliomas of the optic tract, other low grade gliomas, and pheochromocytomas. Hepatoblastoma have not been previously reported in patients with neurofibromatosis type 1. We present a case of a 9-month-old boy diagnosed with both hepatoblastoma and neurofibromatosis type 1.

A case of primary ovarian lymphoma in a child with high levels of CA125 and CA19-9.

Primary ovarian lymphoma is extremely rare in children. The authors report a case of primary ovarian lymphoma in a child with high levels of CA125 and CA19-9. To their knowledge, this is the first such case to be reported in the literature.

Periodontal status in two siblings with severe congenital neutropenia: diagnosis and mutational analysis of the cases.

Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production. The disease is characterized by a maturation arrest of neutrophil precursors at the promyelocytic stage of differentiation and by extremely low levels of mature neutrophils in peripheral blood.

Methods: A 6-year-old male presented with a complaint of gingival swelling and bleeding, and swelling at the left side of his face.

Criteria for judging the improvement in subclinical rheumatic valvitis.

Recent technical improvements in cross-sectional echocardiography have made it possible to detect even mild organic regurgitation of the mitral and aortic valves in patients with acute rheumatic fever. To determine the prevalence and prognosis of subclinical valvitis, we have analyzed 104 patients with acute rheumatic fever referred to our institution. Of 53 patients who had no murmur, 22 of them with polyarthritis, 29 with chorea, and 2 with polyarthritis and chorea, 23 (43.

Plasma transforming growth factor beta1 levels in thrombocytopenic and nonthrombocytopenic neonates.

In this study, we determined the plasma TGF-beta1 levels in healthy and thrombocytopenic and nonthrombocytopenic neonates who had perinatal risk factors and examined the association between plasma TGF-beta1 levels and platelet counts in these newborns to investigate the role of TGF-beta1 in the pathogenesis of neonatal thrombocytopenia. Three groups were defined in this prospective study: group 1, thrombocytopenic neonates (n=22) who had perinatal risk factors; group 2, nonthrombocytopenic neonates who had similar perinatal risk factors for thrombocytopenia (n=20); group 3, healthy and nonthrombocytopenic neonates without any risk factors (n=20). Plasma TGF-beta1 levels were measured with ELISA.

Successful Treatment of Infection- Associated Hemophagocytic Syndrome with Intravenous Immunoglobulin.

Hemophagocytic syndrome is a rare disorder characterized by a group of clinical, laboratory and histopathological findings such as fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, and hemophagocytosis in the bone marrow, spleen, and lymph nodes. Hemophagocytic syndrome may occur as a primary or secondary disease. Primary type of hemophagocytic syndrome is also known as familial erythrophagocytic lymphohistiocytosis and secondary type is mostly associated with an viral infection and known as infection-associated hemophagocytic syndrome (IAHS).

Investigation of megakaryocyte apoptosis in children with acute and chronic idiopathic thrombocytopenic purpura.

Objective: Although the platelet destruction shows a primary role in the thrombocytopenia of idiopathic thrombocytopenic purpura (ITP), it has been demonstrated that impaired platelet production may also contribute to the severity of thrombocytopenia in ITP. The present study examined megakaryocyte apoptosis in bone marrow aspirates of children with acute and chronic ITP and investigated the role of megakaryocyte apoptosis in ITP pathophysiology.

Methods: Thirteen children diagnosed with acute ITP and eight children diagnosed with chronic ITP comprised the study group.

A pediatric case of lymphomatoid granulomatosis with onset after completion of chemotherapy for acute myeloid leukemia.

In this case report, we present a pediatric case of lymphomatoid granulomatosis (LG) with onset just after the completion of chemotherapy for childhood acute myeloid leukemia (AML). After the completion of maintenance therapy, the patient was admitted to our clinic with a complaint of cough. Radiologic examinations revealed nodular lesions in lungs, liver, and kidney.

Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature.

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease occurring in childhood. Recently, it has been shown that heritable mutations in Fas or Fas ligand genes, which regulate lymphocyte survival by triggering apoptosis of lymphocytes, are the most frequent cause of ALPS. Patients with ALPS frequently have lymphadenopathy, splenomegaly and hepatomegaly, especially at young ages.

Analysis of thalassemia syndromes and abnormal hemoglobins in patients from the Aegean region of Turkey.

Turkey is located in a geographic area of the world where thalassemia syndromes and abnormal hemoglobins are common. In this study we aimed to evaluate the thalassemia syndromes and abnormal hemoglobins in patients from the Aegean region of Turkey. Among the patients admitted to our Pediatric Hematology or Hematology Clinic between January 1997-September 1999, hemoglobin electrophoresis of 3,228 cases investigated for anemia was done using high performance liquid chromatography.