Idiopathic pulmonary hemosiderosis mimicking iron deficiency anemia: a delayed diagnosis?

Idiopathic pulmonary hemosiderosis (IPH) is an uncommon chronic disorder in children. It is characterized by recurrent pulmonary hemorrhage and may result in hemoptysis and pulmonary insufficiency. The most common hematologic manifestation of IPH is iron deficiency anemia. The etiology of IPH is not known and its diagnosis may be difficult due to the variable clinical courses. The most helpful signs for identifying IPH are iron deficiency anemia and recurrent or chronic cough, hemoptysis, dyspnea, wheezing. We report here 5 pediatric cases of IPH presenting with iron deficiency anemia and without pulmonary symptoms. Mean corpuscular volume was low in all patients; iron was low in 4 out of 5 cases; total iron binding capacity was high in all of them; ferritin was low in 3 patients. At follow up, none of them had responded successfully to the iron therapy. Although they didn’t present with pulmonary symptoms, chest radiographs incidentally revealed diffuse reticulonoduler shadows in all of them. Computed tomography revealed diffuse ground-glass opacities, consolidation, increased density. The diagnosis was confirmed by the detection of hemosiderinladen macrophages in bronchoalveolar lavage fluid and gastric aspirate. If patients with iron deficiency anemia don’t respond to iron therapy, they should be examined for IPH. Chest radiographs should be taken even in absence of pulmonary symptoms. Early diagnosis is important for a timely management of IPH

Multicentric Plasma Cell Type of Castleman Disease in a Child: Difficulty in Diagnosis and Treatment

Multicentric plasma cell variant of Castleman disease (CD) has rarely been reported and the optimal therapeutic approach is unknown, especially in childhood. In this case report, we discuss the case of a 7-year-old boy with multicentric plasma cell variant of CD, who presented with cervical lymphadenopathies, autoimmune hemolytic anemia, bone marrow insufficiency, pulmonary, renal, hepatic, and gastrointestinal involvement, emphasizing the difficulty in diagnosis and treatment approach

CANDLE Syndrome: A Recently Described Autoinflammatory Syndrome

© 2015 Wolters Kluwer Health, Inc.CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment

Evaluation of Bleeding Phenotype of Inherited Factor VII Deficiency in Children With a Bleeding Assessment Tool and Global Assays

WOS: 000562759500042PubMed: 31343480Introduction:Inherited factor VII (FVII) deficiency is the most common of the rare bleeding disorders and shows a heterogenous distribution of bleeding phenotypes independent of factor activity level. the bleeding score (BS) evaluates the phenotype of patients with rare bleeding disorders. Thromboelastography (TEG) and thrombin generation assays (TGAs) are 2 methods to evaluate global hemostasis, and controversially both tests are useful for identifying different bleeding tendency phenotypes. the purpose of this study was to investigate the use of the BS and global assays (TEG and TGAs) to predict the bleeding phenotype of inherited FVII deficiency.Materials and Methods:A total of 27 patients with FVII deficiency were evaluated with the BS and global hemostasis assays.Results:The BS was compatible with disease severity according to the FVII activity level (P0.05). No significant correlation was observed between the factor activity level and any TEG parameter (P>0.05). the factor activity level was negatively correlated with the lag time of the TGA on the contrary positively correlated with the peak thrombin time of the TGA (P<0.05).Conclusions:The global assays do not successfully predict the bleeding phenotype. the BS is a more suitable tool than conventional and global assays for predicting the bleeding phenotype

Thioguanine-Related Chronic Hepatotoxicity in a Child with Acute Myeloid Leukemia: A Case Report and Review

WOS: 000219056100012The association between 6-Thioguanine (6-TG) treatment and drug-induced liver injury has been reported since 1976. Recent reports have suggested that treatment of patients with 6-TG can lead to chronic hepatotoxicity and portal hypertension. Most of the cases reported to have 6-TG related hepatotoxicity had acute lymphoblastic leukemia or inflammatory bowel disease. In this case report, we discussed the diagnosis and approach in an acute myeloid leukemia patient who developed 6-TG related chronic hepatotoxicity

B-cell-activating factor, a proliferation inducing ligand and co-stimulatory molecules in the pathogenesis of immune thrombocytopenia in childhood

The aim of this study was to measure the levels of B-cell-activating factor (BAFF), a proliferation-inducing ligand (APRIL), and co-stimulatory molecules in immune thrombocytopenia (ITP) of childhood to investigate the interaction between T and B lymphocytes and the impact of proliferation of B lymphocytes in the pathogenesis. Twenty newly diagnosed ITPs, 20 chronic ITPs, and 20 healthy controls between 2 and 18 years were enrolled in this study. Hemogram, BAFF, APRIL, interleukin-4, and interferon (IFN)-gamma levels in sera and expressions of CD19, CD 3, CD21, CD40, and CD 154 on leukocytes were measured by ELISA and flow cytometry. Mean BAFF level in newly diagnosed ITP group was higher than the mean BAFF level in other groups. BAFF levels were significantly decreased after the treatment in newly diagnosed ITP group. APRIL, interleukin-4, and IFN-gamma in newly diagnosed ITP group and BAFF, APRIL, interleukin-4, and IFN-gamma in chronic ITP group were similar before and after treatment. There was no statistical difference for expressions of CD 19 and CD3 on lymphocytes, CD40 on leukocytes, CD154 on T cells, and for percentages of CD21(+)/CD40(+), CD21(-)/CD40(+), CD21(+)/CD40(-) B cells, and CD19(-)/CD3(-) lymphocytes for pretreatment and posttreatment levels in both ITP groups. In conclusion, our study strongly demonstrated that BAFF has an important role in the pathogenesis of newly diagnosed childhood ITP. It may be important in the follow-up and in novel therapy modalities of these patients. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved

Successful immune tolerance induction with low-dose coagulation factor VIII in a patient with hemophilia A from a developing country

Inhibitor development is the most frequent and serious complication of the treatment in patients with hemophilia. Immune tolerance induction (ITI) is the only option of treatment for the eradication of factor VIII (FVIII) inhibitor. We would like to present our case with hemophilia whose FVIII inhibitor eradication was done by a low-dose ITI regimen. Our patient has been applied on-demand therapy until 8 years of age. Secondary prophylaxis was began because of having hemophilic arthropathy. A low titer of FVIII inhibitor (4.2 BU/ml) was detected in the fifth month of the prophylaxis. The peak inhibitor titer of patient was 4.6 BU/ml, and there was no decrease in inhibitor titer in the follow-up duration. The low-dose ITI (50 IU/kg, 3 days a week) was started. His inhibitor level was detected negative and the recovery test was ameliorated in the 15th of the ITI therapy. High-dose regimen ITI could not be given particularly in developing countries such as Turkey in view of the high cost of treatment. Patients who had good risk factors might be successfully treated by using low-dose ITI regimen as effective as high-dose ITI regimen. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved

Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future

The increased awareness about the severity of complications in thalassemia intermedia patients led authorities to develop strategies for better management and follow-up of these patients. In this study, we aimed to define the clinical and laboratory characteristics in previously followed-up -thalassemia intermedia patients and wanted to gain an insight about the follow-up of this patient population in a developing country to provide them better care in the future. The mean age at diagnosis was 4 years, and the mean hemoglobin was 7.13 g/dL. The mean age at the beginning of regular transfusion was 4.8 years. An overall 74% of patients were on a regular transfusion program. The mean ferritin values at diagnosis and the last follow-up were 487 and 1225 ng/mL, respectively. The most common mutations detected in patients were IVS-I-110, IVS-I-6, IVS-II-1, and FCS 8/9 in order of frequency. Complications were seen in 48% of patients. The most common complications were osteopenia/osteoporosis (34%), growth retardation (24%), hypogonadism (18%), and cardiomyopathy (13%). In conclusion, the relatively higher complication rate in our patients who were previously treated highlights once again the need for an increased effort for optimal management and follow-up of this specific group of patients