Multifocal kaposiform hemangioendothelioma of soft tissue with bilateral pulmonary involvement in an adolescent

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of intermediate malignancy with resemblance to Kaposi sarcoma. It occurs predominantly in pediatric age groups as a cutaneous lesion with focal infiltration into the adjacent soft tissue and bone. Although visceral involvement is very uncommon, several cases with bone, retroperitoneal, or mediastinal involvement have been described. KHE has been reported to occasionally occur in unusual sites such as the thymus, tonsils, larynx, paranasal sinuses, deltoid muscle, spleen, uterine cervix, thoracic spine, and even the breast. Multifocal KHE is an extremely rare entity with few reports available in the literature, none of which describes pulmonary involvement. Herein, we report a unique case of multifocal KHE in a 13-year-old boy presenting with a huge soft tissue mass in the upper extremity complicated by bilateral pulmonary nodules that developed into large, necrotic tumor masses

Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family

Human parvovirus (HPV) B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS) is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR) and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease

mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome

Background: Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. Case Presentation: We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures. Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS. Conclusion: PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia

mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome

Background: Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. Case Presentation: We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures. Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS. Conclusion: PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia

Frequency of Red Cell Alloimmunization in Patients with β-Major Thalassemia in an Iranian Referral Hospital

Objective: Frequency of red cell alloimmunization in patients with β-major-thalassemia in Mofid children's hospital. Tehran. Iran Material & Methods: This is a cross-sectional descriptive study conducted in Mofid children's hospital, March 2007. A total of 121 major thalassemia patients on regular blood transfusion were included in this study. Clinical and laboratory data were collected and analyzed to find out the frequency, pattern and factors influencing red cell immunization secondary to multiple blood transfusions in these patients. Findings: Mean age of patients was 13 (6.19) from 2-26 years.They had received regular blood transfusions during periods ranging from 1 to 25.5 years. Red cell alloimmunization was found in 9 patients (7.4%). In female group, 5 out of 66 (7.6%) patients and in male group 4 out of 55 (7.3%) patients had evidence of alloimmunization.The mean age of patients with alloimmunization was 9.6 (6.5) years (range 3.7-20). Four patients (44.4%) with alloimmunization were more than 3 years old at the time of first blood transfusion. The mean age at first blood transfusion in patients with alloimmunization and without alloimmunization was 2.8 (2.4) and 1.7 (2.0) years (P=0.1). The differential rate of splenectomy as a risk factor between patients with and without alloimmunization (11.1% and8% respectively) was not statistically significant (P=0.5). Direct or indirect antiglobulin tests were positive in 5 (62.5%) patients. The blood alloantibodies by a panel of antibodies using standardized blood bank methods were detected in 4 patients, which were of anti-K and anti-D types. Conclusion: The rate of red blood cell alloimmunization is relatively low in our patients. The age at first blood transfusion and splenectomy were not statistically significant as risk factors for alloimmunization in this study

Serum Folate Levels in Major Beta Thalassemia Patients

Objective: Beta major thalassemia is a variant of beta thalassemia syndrome which could be treated with bone marrow transplantation or if not available, regular blood transfusion. In the latter case, supportive therapy is the mainstay of treatment because of low folate intake or absorption. But the main cause of insufficient supportive therapy is the increasing need of bone marrow for ineffective erythropoiesis in the absence of regular blood transfusion. The purpose of regular blood transfusion in β major thalassemia patients is to maintain the range of hemoglobin level between 9 and 11 gr/dl to stop insufficient erythropoiesis completely. Therefore, by regular blood transfusion, supportive therapy with folic acid would not be needed. The aim of this study is to determine serum folate level in regular transfused β major thalassemia patients in Mofid Children's Hospital during 2006. Methods: This is a cross sectional descriptive–analytic study performed on 100 β major thalassemia patients receiving regular blood transfusion and desferal. Post-storage leukodepleted blood is used for transfusion. Patients’ data is achieved from information data sheets. Serum folate level is determined with Electrochemiluminescence method in one of the most reliable laboratory centers. Normal serum folate level was 3-17.5 ng/ml in this laboratory with the sensitivity of 0.6 ng. Data analysis is performed with SPSS analysis software, and with chi squared, T-test and Spearman test. Findings: 56 (56%) girls and 44 (44%) boys entered this study with a median age of 156 (± 71.2) months and an age range of 14-288 months. Patients’ median hemoglobin level was 9.5 (±0.87) g/dl, with minimum of 7.5 and maximum of 11.9 g/dl. Mean MCV was 84.2 (±4.20) fl, with the range of 73.4 -95.3 fl. Serum folate level was in the range of 1-19 ng/ml and median of 9 (± 4.9) ng/ml. Serum folate was less than 3 ng/ml in 3% of evaluated patients. Hemoglobin level was equal or more than 9 g/dl in 73% of patients. Conclusion: It seems that if major β thalassemia patients receive regular blood transfusion, their serum folate level would be in normal range and supplementation therapy with folate will not be necessary

Association of Serum Soluble Triggering Receptor Expressed on Myeloid Cells Levels in Malignant Febrile Neutropenic Patients with Bacteremia and Fungemia

Objective: Infections are the major cause of morbidity and mortality in febrile neutropenic patients with malignancy. Rapid diagnostic tests are needed for prompt diagnosis and early treatment which is crucial for optimal management. We assessed the utility of soluble triggering receptor expressed on myeloid cells (sTREM-1) in the diagnosis of bacteremia and fungemia in febrile neutropenic patients. Methods: Sixty-five febrile neutropenic children with malignancy hospitalized in Mofid Children's Hospital during a period of one year from January 2007 were recruited for this cross sectional study (mean age 66.2± 37 months; 35 females and 30 males). Thirty patients (46.2%) had acute lymphoblastic leukemia, 2 (3.1%) acute myeloid leukemia, one (1.5%) lymphoma and 32 (49.2%) were under treatment for solid tumors. Simultaneous blood samples were collected for measurement of serum sTREM-1 levels and for blood cultures which were grown in BACTEC media. Gold standard for the presence of infection was a positive BACTEC culture as a more sensitive method compared to current blood culture techniques. Findings: Blood cultures with BACTEC system were positive in 13(20%) patients (12 bacterial and one fungal culture). The mean serum sTREM-1 level in BACTEC positive patients was 948.2±592.9 pg/ml but in BACTEC negative cases it was 76.3±118.8 pg/ml (P<0.001). The optimal cut-off point of sTREM-1 for detecting patients with positive result of BACTEC was 525 pg/ml with sensitivity and specificity of 84.6% and 100%, respectively. Conclusion: Our study revealed a significant association between serum sTREM-1 level and bacteremia and fungemia in febrile neutropenic patients suffering malignancy with acceptable sensitivity and specificity

Primary Intrarenal Neuroblastoma with Hypertension and Disseminated Intravascular Coagulation

The primary intrarenal neuroblastoma (IRNB) is a rare condition. Intrarenal neuroblastoma typically results from direct renal invasion from an adrenal neuroblastoma, but true intrarenal neuroblastoma originates either sequestered adrenal rests during the fetal life or intrarenal sympathetic ganglia. Clinical, radiological, and pathological correlation is very essential for diagnosis and appropriate management of this type of unusual cases. The distinction of this rare tumor from Wilms’ tumor is an important challenge since both tumors have major differences in prognostic and therapeutic response. We present a 3-year-old boy of primary intrarenal neuroblastoma with extensive abdominal and mediastinal mass, persistent hypertension, and disseminated intravascular coagulation (DIC)