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

Vitamin A status of healthy children in Manisa, Turkey

<p>Abstract</p> <p>Background</p> <p>Vitamin A deficiency is a major public health nutrition problem in the developing world. Even subclinical Vitamin A deficiency is associated with increased childhood mortality. Severe maternal vitamin A deficiency may cause increased mortality in the first months of life. There have been a limited number of studies regarding vitamin A status in Turkey. The aim of this study was to assess vitamin A status of healthy children in Manisa, Turkey.</p> <p>Methods</p> <p>Vitamin A status of 100 healthy children aged 36-48 months is evaluated. The children were seen during routine examination. Serum retinol concentrations were measured by high-performance liquid chromatography. Duration of breast feeding, age solid foods introduced, use of supplementary vitamins, weight and height, and intake of specific groups of nutrients on a daily, weekly and monthly basis were collected from a questionnaire completed by the mothers. Height and weight z-scores were calculated according to national standards. Mothers of 20 of the 100 children were known to have normal serum and breast milk retinol concentrations. Children with normal serum retinol concentration were compared with the children with VAD. Student's t-test and Mann-Whitney test were used to compare independent variables. The Pearson correlation analysis test was used to test relation between numeric variables.</p> <p>Results</p> <p>Mean retinol concentration was 0.98 ± 0.32 μmol/L in the whole study group. Serum retinol concentrations were normal (>0.70 μmol/L) in 89% of the children. When children with normal serum retinol concentrations were compared with those with retinol concentrations lower than 0.70 μmol/L, there was no difference in terms of age, gender, weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, rate of supplementary vitamin use, and rate of infections (P > 0.05). There was not any relation between vitamin A concentrations and weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, vitamin use, and frequency of intake of specific groups of nutrients (P > 0.05).</p> <p>Conclusions</p> <p>This study showed that VAD is a moderate health problem in Manisa.</p

Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features

Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches

Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features

Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches

A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene

Autosomal recessive osteopetrosis is also known as infantile malignant osteopetrosis (IMO). The clinical course is often serious andif left untreated, it is fatal in the 1st year of life. Diagnosis is challenging and often delayed or misdiagnosed. Herein, we presentan infant girl who was diagnosed with IMO during evaluations for her hypotonicity and thrombocytopenia. A novel mutation ofthe chloride voltage-gated channel 7 (CLCN7) gene was also reported. A 10-day-old female patient was referred to our hospital forevaluation of hypotonicity. Her physical examination was normal, other than hypotonicity. Laboratory analysis revealed thrombocytopenia and hypocalcemia. In the progress, while she was followed in outpatient clinic, hepatosplenomegaly was detected atthe age of 3 months. IMO was suspected with the findings of hepatosplenomegaly, cytopenia, hypocalcemia, difficulty of obtaining bone marrow, peripheral smear findings, and hearing loss. The X-ray of the bones was consistent with IMO. A novel pathogenichomozygous c.1504&gt;T (p.Arg502Trp) mutation in CLCN7 gene was revealed. IMO is a rare disorder and it is important to differentiate this entity for better clinical outcome. The presence of neurological and hematological findings, organomegaly, hearing loss,and vision disorders must attract attention to IMO.</p

A 3-Year Retrospective Study of the Epidemiology of Acute Respiratory Viral Infections in Pediatric Patients with Cancer Undergoing Chemotherapy

Background:Acute viral respiratory infections are common causes of febrile episodes in children. There are still limited data about distribution of acute viral respiratory infections in children with cancer.Objective:The first aim of this study was to evaluate the viral etiology and seasonality of acute viral respiratory infection in pediatric patients with cancer in a 3-year study. Our second aim was to evaluate the impact of viral infections on delaying the patients' chemotherapy or radiotherapy.Materials and Methods:This cross-sectional study was conducted from January 2014 to July 2017. Nasopharyngeal aspirates were analyzed in patients younger than 21 years with acute respiratory infections. Patients were treated in the Pediatric Hematology and Oncology Department of Dr. Behçet Uz Children's Hospital with real-time multiplex polymerase chain reaction. Data were analyzed to determine the frequency and seasonality of infections. The χ 2 or the Fisher exact tests were used.Results:A total of 219 samples of nasopharyngeal aspirates and blood were analyzed. The mean patient age was 76.8±59.3 months, with 46.3% female and 53.7% male children in a total of 108 patients. Of this total, 55% (60/108 cases) had multiple acute respiratory infections. Acute lymphoblastic leukemia (48.1%) was the most prevalent disease. The 3 most prevalent viruses were human rhinovirus (HRV) (33.1%), parainfluenza (PI) (18.7%), and coronavirus (CoV) (14.8%). In terms of the seasonal distribution of viruses, PI was most common in winter 2014, HRV in spring 2014, HRV in fall 2014, PI in winter 2015 and summer 2015, CoV in spring 2015, HRV in fall 2015, both influenza and HRV in winter 2016, both human metapneumovirus and bocavirus in spring 2016, HRV in summer 2016, both HRV and PI in fall 2016, both respiratory syncytial virus and influenza in winter 2017, HRV in spring 2017, and both HRV and adenovirus in summer 2017. The mean duration of neutropenia for patients with viral respiratory infection was 17.1±13.8 (range: 2 to 90) days. The mean duration of symptoms of viral respiratory infection was 6.8±4.2 (range: 2 to 31) days. A delay in chemotherapy treatment owing to viral respiratory infection was detected in 73 (33.3%) patients. The mean duration of delay in chemotherapy treatment was 9.6±5.4 (range: 3 to 31) days.Conclusions:In conclusion, we report our 3-year experience about the frequency and seasonality of respiratory viruses in children with cancer