A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.

Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen. Here we present a case of severe congenital neutropenia type 4 with G6PC3 mutation and large platelets in the peripheral smear.

Biochemical, radiologic, ultrastructural, and genetic evaluation of iron overload in acute leukemia and iron-chelation therapy.

Iron overload in hereditary hemochromatosis and hematologic malignancy has unfavorable effects on morbidity. Herein, 53 children (age 108.4±58.3 mo, 25 girls and 28 boys) with acute myeloblastic and lymphoblastic leukemia, who received 4 different chemotherapy protocols, were evaluated for iron overload throughout chemotherapy. Iron overload arose: (1) before chemotherapy, which was dependent on neither chemotherapy nor packed red blood cell transfusions and (2) after chemotherapy, which was dependent on the duration and nature of chemotherapy and partially on transfusion of packed red blood cells. Iron overload was documented in 75% of patients with a ferritin level >1000 ng/mL, by liver and heart magnetic resonance imaging, and they were administered iron-chelation therapy with success. Three of 10 radiologically iron-overloaded patients were heterozygous for H63D mutation. Aminolevulinic acid and porphobilinogen levels were normal. Light microscopic examination of the bone marrow revealed increased iron granules in erythroblasts, platelets, and megakaryocytes, iron-laden macrophages, free iron in the matrix, dyshematopoiesis, and apoptotic cells. Electron microscopic examination revealed iron-laden secondary lysosomes and autolysosomes in normoblasts and iron-laden primary granules in promyelocytes, irrelevant to the ferritin level, implying autophagia due to chemotherapy as a source of the excess iron. We think that iron overload, which is an important complication of acute leukemia, should be evaluated separately from "transfusion overload," and the management principles specific to leukemia should be implemented.

Pediatric primary anaplastic ganglioglioma with malignant neuronal component.

Kaymak-Cihan M, Erdis E, Bozkurt S, Ünver-Korgali E. Pediatric primary anaplastic ganglioglioma with malignant neuronal component. Turk J Pediatr 2018; 60: 102-106. Gangliogliomas (GGs) represent approximately 0.4%-1.0% of all brain tumors. Anaplastic gangliogliomas (AGGs) form 5-10% of all GGs. They are a mixed neuronal-glial tumor of central nervous system and composed by two cell lines; neuronal (ganglionic) and glial cells. Anaplastic component of AGGs is usually glial cells. Malignant neuronal component is a rare condition. Here we report an 8-year-old male patient who was diagnosed with primary AGG with malignant neuronal component and was treated with surgery, adjuvant radiotherapy and chemotherapy.

Is there an association between vitamin D level and iron deficiency in children? / ¿Existe alguna asociación entre la concentración de vitamina D y la ferropenia en los niños?

INTRODUCTION: Vitamin D (VitD) affects the erythropoiesis. The aim of this study was to evaluate the association between maternal/child 25-OH VitD (25-OHD) levels and iron deficiency (ID) and anemia (IDA) in children aged 6 months-5 years. POPULATION AND METHODS: Between September 2014 and January 2016 children who were admitted to outpatient clinic were included to study. We excluded the children with acute or chronic infection, malnutrition, chronic disease and preterm birth history. Complete blood count, serum iron, total iron binding capacity, ferritin, 25-OHD levels were examined from children and their mothers. Iron and VitD supplementation during infancy and pregnancy and breastfeeding history were questioned. RESULTS: The study included totally 117 children. There were 67 children with ID/IDA [Group 1, mean age (years):2.05±1.24 (0.5-5)] and 50 normal children [Group 2, mean age (years): 1.87±1.12 (0.58-5)]. There were more VitD deficient children and mothers in Group 1 than in Group 2 (respectively, children 49.3 % vs. 20 % p=0.002; mothers 94 % vs.64 %, p=<0.001). There was a positive correlation between hemoglobin levels of children and maternal/child 25-OHD.The independent risk factors for IDA in children were longer exclusively breastfeeding time (odds ratio [OR], 0.35; 95 % confidence interval [CI], 0.1550.789; p=0.011), shorter duration of regular iron supplementation during infancy and pregnancy (infancy: OR,1.69; 95 % CI 1.148-2.508; p=0.008. pregnancy: OR,1.39; 95 % 0,1.070-1.820; p=0.014) and lower maternal 25-OHD level (OR,1.16; 95 % 0,1.034-1.292; p=0.011). CONCLUSIONS: Maternal/child VitD deficiency is associated with ID/IDA in children aged 6 months-5 years.

Introducción. La vitamina D afecta la eritropoyesis. Objetivo: evaluar, en niños de 6 meses a 5 años, la asociación entre concentraciones de 25-hidroxi vitamina D (25-OHD) en la madre/niño, ferropenia y anemia ferropénica (AF). Población y métodos. Se incluyeron los niños que asistieron a la consulta entre septiembre de 2014 y enero de 2016. Se excluyeron aquellos con infección aguda/crónica, desnutrición, enfermedades crónicas y prematuros. Se realizó hemograma, hierro sérico, capacidad fijación del hierro, ferritina y 25-OHD. Se investigó suplemento con hierro y vitamina D durante lactancia y embarazo. Resultados. Se incluyeron 117 niños: 67 tenían ferropenia/AF |#91;Grupo 1, edad (años): 2,05 ± 1,24 (0,5-5)|#93; y 50 niños sanos |#91;Grupo 2, edad (años): 1,87 ± 1,12 (0,58-5)|#93;. Más niños y madres tuvieron deficiencia de vitamina D en Grupo 1 que en Grupo 2 (niños, 49,3 % vs 20 %, p=0,002, y madres: 94 % vs 64 %; p= < 0,001, respectivamente). Hubo correlación positiva entre la hemoglobina en niños y la 25-OHD en madres/niños. Factores independientes de riesgo de AF fueron más tiempo de lactancia (OR: 0,35; IC 95 % |#91;0,1550,789|#93;; p = 0,011), más breve suplementación con hierro durante la lactancia (OR: 1,69; IC 95 % |#91;1,148-2,508|#93;; p = 0,008) y embarazo (OR: 1,39; IC 95 % |#91;1,070-1,820|#93;; p = 0,014) y concentraciones < 25-OHD en madres (OR: 1,16; IC del 95 % |#91;1,034-1,292|#93;; p = 0,011). Conclusiones. La deficiencia de vitamina D en madres/niños está asociada con ferropenia/AF en los niños.

Ruptured Pulmonary Cystic Echinococcosis Mimicking Tuberculosis in Childhood: A Case Report.

Cystic echinococcosis (CE) is a zoonotic disease; in places such as Turkey where livestock is common, it is an endemic health concern. The most commonly involved organ is the lungs in children. Pulmonary cysts can be asymptomatic; in some cases, they may rupture and become symptomatic. Ruptured lung hydatid cysts may often be confused with tuberculosis (Tbc) radiologically and clinically. . In this report, we present an 8-year-old female patient admitted with cough, fever, and sputum persisting since 2 weeks; her chest radiography and computed tomography (CT) findings initially indicated Tbc, but the follow-up surgery led to a diagnosis of ruptured lung CE. We want to emphasize that in children belonging to places where livestock is common, if respiratory symptoms are observed, CE and tuberculosis must be considered in the differential diagnosis, and the final diagnosis should be supported by other microbiological-serological tests.

Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment.

OBJECTIVE: Glucocorticoids (GCs) are the key drugs for the treatment of pediatric acute lymphoblastic leukemia (ALL). Herein, investigation of the relationship between the N363S and BclI polymorphisms of the GC receptor gene (NR3C1) and the side effects of GCs during pediatric ALL therapy was aimed. MATERIALS AND METHODS: N363S and BclI polymorphisms were analyzed in 49 patients with ALL treated between 2000 and 2012. The control group consisted of 46 patients with benign disorders. The side effects of GCs noted during the induction and reinduction periods were evaluated retrospectively according to the National Cancer Institute's Common Terminology Criteria for Adverse Events, version 4.0. RESULTS: The BclI allele and genotype frequencies were found similar in the two groups. No N363S polymorphism was detected in either of the groups. During induction, dyspepsia was found more frequently in the CG than in the CC (wild-type) genotype (36.4% vs. 5.3%, p=0.018) and depression symptoms more frequent in patients with the G allele (CG+GG) than the CC genotype (39.3% vs. 10.5%, p=0.031). During reinduction, Cushingoid changes, dyspepsia, and depression symptoms were more frequent in patients with the G allele (CG+GG) than in patients with the CC genotype (48.1% vs. 17.6%, p=0.041; 29.6% vs. 0.0%, p=0.016; 40.7% vs. 11.8%, p=0.040, respectively). CONCLUSION: In our study, patients with the BclI polymorphism were found to have developed more frequent side effects. We think that the BclI polymorphism should be considered while designing individualized therapies in childhood ALL.

Can Burkitt's Lymphoma and Hodgkin's Lymphoma occur in siblings simultaneously?

Familial clustering of Hodgkin lymphoma (HL) and increased risk of developing disease among the siblings has been reported earlier. Usually familial lymphoma in sibling pairs occurs in the pairs of either non-Hodgkin lymphoma or HL. In the familial HL, same type of human leukocyte antigens (HLA) is responsible in the affected family members. There are also some studies stating "Killer cell immunoglobulin like receptor (KIR)" genotypes can be important in the etiology of familial HL. Here we report two siblings; one with Non-Hodgkin and the other with Hodgkin lymphoma which showed Epstein-Barr virus encoded small RNAs positivity in the tumor tissues. We have also found that their HLA genotypes are same with each other. In addition, we have discussed familial lymphoma pathogenesis and HLA haplotypes.

Chronic eosinophilic leukemia with monosomy 8 in a five-year-old girl: a rare case.

A 5-year-old girl was admitted to our hospital due to fatigue and fever lasting for six months. She had systolic murmur in the mesocardiac and apex regions and hepatosplenomegaly. Laboratory evaluation revealed leukocyte and eosinophil counts of 176 and 144.32 x 10(9)/L, 3.4% blasts in bone marrow and monosomy 8. She developed pulmonary, cardiac, nervous system, ocular and bone involvement. Upon diagnosis of "chronic eosinophilic leukemia, not otherwise specified" (WHO 2008 classification), she received methylprednisolone, vincristine, cytarabine and 6-thioguanine. After hematopoietic stem cell transplantation from a full-matched sibling was performed, the patient expired due to graft failure and septicemia.

¿Existe alguna asociación entre la concentración de vitamina D y la ferropenia en los niños? / Is there an association between vitamin D level and iron deficiency in children?

Introducción.La vitamina D afecta la eritropoyesis.Objetivo: evaluar, en niños de 6 meses a 5 años, la asociación entre concentraciones de 25-hidroxi vitamina D (25-OHD) en la madre/niño, ferropenia y anemia ferropénica (AF). Población y métodos. Se incluyeron los niños que asistieron a la consulta entre septiembre de 2014 y enero de 2016. Se excluyeron aquellos con infección aguda/crónica, desnutrición, enfermedades crónicas y prematuros. Se realizó hemograma, hierro sérico, capacidad fijación del hierro, ferritina y 25-OHD. Se investigó suplemento con hierro y vitamina D durante lactancia y embarazo.Resultados. Se incluyeron 117 niños: 67 tenían ferropenia/AF [Grupo 1, edad (años): 2,05 ± 1,24 (0,5-5)] y 50 niños sanos [Grupo 2, edad (años): 1,87 ± 1,12 (0,58-5)]. Más niños y madres tuvieron deficiencia de vitamina D en Grupo 1 que en Grupo 2 (niños, 49,3 % vs 20 %, p = 0,002, y madres: 94 % vs 64 %; p= < 0,001, respectivamente). Hubo correlación positiva entre la hemoglobina en niños y la 25-OHD en madres/niños. Factores independientes de riesgo de AF fueron más tiempo de lactancia (OR: 0,35; IC 95 % [0,155-0,789]; p = 0,011), más breve suplementación con hierro durante la lactancia (OR: 1,69; IC 95 % [1,148-2,508]; p = 0,008) y embarazo (OR: 1,39; IC 95 % [1,070-1,820]; p = 0,014) y concentraciones < 25-OHD en madres (OR: 1,16; IC del 95 % [1,034-1,292]; p = 0,011). Conclusiones. La deficiencia de vitamina D en madres/niños está asociada con ferropenia/AFen los niños.

Introduction. Vitamin D (VitD) affects the erythropoiesis. The aim of this study was to evaluate the association between maternal/child 25-OH VitD (25-OHD) levels and iron deficiency (ID) and anemia (IDA) in children aged 6 months-5 years. Population and methods. Between September 2014 and January 2016 children who were admitted to outpatient clinic were included to study. We excluded the children with acute or chronic infection, malnutrition, chronic disease and preterm birth history. Complete blood count, serum iron, total iron binding capacity, ferritin, 25-OHD levels were examined from children and their mothers. Iron and VitD supplementation during infancy and pregnancy and breastfeeding history were questioned.Results. The study included totally 117 children. There were 67 children with ID/IDA [Group 1, mean age (years):2.05±1.24 (0.5-5)] and 50 normal children [Group 2, mean age (years): 1.87±1.12 (0.58-5)]. There were more VitD deficient children and mothers in Group 1 than in Group 2 (respectively, children 49.3 % vs. 20 % p=0.002; mothers 94 % vs.64 %, p=<0.001). There was a positive correlation between hemoglobin levels of children and maternal/child 25-OHD. The independent risk factors for IDA in children were longer exclusively breastfeeding time (odds ratio [OR], 0.35; 95 % confidence interval [CI], 0.155-0.789; p=0.011), shorter duration of regular iron supplementation during infancy and pregnancy (infancy: OR,1.69; 95 % CI 1.148-2.508; p=0.008. pregnancy: OR,1.39; 95 % CI,1.070-1.820; p=0.014) and lower maternal 25-OHD level (OR,1.16; 95 % CI,1.034-1.292; p=0.011). Conclusions. Maternal/child VitD deficiency is associated with ID/IDA in children aged 6 months-5 years.