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Ischemic stroke is a significant health condition, whose frequency in childhood is increasing day by day. Although many factors are effective in development of the stroke, it has been showed that individuals having risk factors have a genetic predisposition. The aim of the study is to determine whether distinct genetic mutations are risk factors for children with history of ischemic stroke. Our sample data is taken from 58 patients (29 male and 29 female) who applied our hospital between 2012 and 2016 with diagnosis of acute or chronic arterial stroke and from 70 healthy children (32 male and 38 female) with similar particularities in the sense of age and sex, who have not any chronical disease. Blood samples are taken from each child participated in the study to conduct genetic analysis. It has been examined whether a mutation exists in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736). Moreover, whether there are significant difference between patient and control group has been investigated. In the genetic analysis of patients and control groups, no significant difference has been found for any of the genes. Mutations in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736) are not risk factors for ischemic stroke in childhood. However this study showed us, the patients who inherit CDKN2B-AS1 and HDCA9 gene mutations had poor prognosis. However, this study should be replicated for a wider sample of patient population.

Background: Stroke is rarely seen in children, but it is a major cause of morbidity and mortality. Therefore, there is a need for inexpensive and noninvasive diagnostic methods for estimating the prognosis. Although the prognostic importance of hematological parameters in acute ischemic stroke were reported in adult studies, there is a lack in pediatric ages. The aim of the study is to investigate the relationship between hematological parameters and prognosis of acute ischemic stroke in children., Methods: Retrospectively scanned in the study were 106 pediatric patients with acute ischemic stroke who managed at the Medical Faculty of Erciyes University, Kayseri, between the years of 2000 and 2014. White blood count (WBC); neutrophil, lymphocyte, and platelet count; mean platelet volume (MPV); platelet distribution width (PDW); neutrophil count/lymphocyte count (N/L) ratio values obtained from the measurements and initial symptoms; demographical features; risk factors; neurological examination; and clinical follow-up were recorded. Their hematological parameters were compared with those of 106 age and sex-matched healthy individuals., Results: MPV and PDW values were found similar in patient and control groups, and the platelet count was found significantly low in the control group (p = 0,028). WBC, neutrophil count, and N/L ratio were found considerably high in the patient group (p < 0.001). Lymphocyte count, however, was found significantly low in the control group (p < 0.001). No statistically significant difference was detected in WBC, neutrophil count, lymphocyte count, platelet count, N/L ratio, and MPV and PDW values between the group with sequelae and the one without sequelae. In addition, it was determined that WBC, neutrophil count, lymphocyte count, platelet count, N/L ratio, and MPV and PDW values in the univariate Cox-regression analysis of the patient group had no effect on survival and disease-free survival. When receiver operating characteristic curve was applied, it was observed that the area below WBC, N/L ratio curve was important in the patient group in terms of predicting acute ischemic stroke., Conclusion: The values of WBC, neutrophil count, and N/L ratio differ significantly from those of the control group. The WBC and N/L ratio may help for an earlier diagnosis in children with acute ischemic stroke. WBC, thrombocyte count, MPV, PDW, and N/L ratio do not constitute a risk in overall survival, disease-free survival, and sequelae development.

Congenital dyserythropoietic anemia type II belongs to a subtype of bone marrow failure syndrome, which is characterized by monolineage involvement and typical morphologic abnormalities in erythroid precursor cells resulting in different degrees of hyporegenerative anemia. Moreover, reticulocytosis, which is not corresponding to the degree of anemia, with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality. Herein we present a 3-year-old male with congenital dyserythropoietic anemia type II who presented with stroke-like symptoms, and was diagnosed with fibromuscular dysplasia.