Assessment of the clinical and radiological findings of cases with subacute sclerosing panencephalitis [Subakut Sklerozan Panensefalit'li Olgulari{dotless}mi{dotless}zi{dotless}n Klinik ve Radyolojik Bulgulari{dotless}ni{dotless}n Degerlendirilmesi]

Aim: Subacute sclerosing panencephalitis (SSPE) is a slow virus infection, arising in the central nervous system in the form of late complication of measles virus. In this study we aimed to research the clinical and radiological features of our patients with SSPE. Material and Method: The study was attended by 19 patients with SSPE being followed-up in the Child Neurology Clinic of the Medical Faculty of Harran University. Patients were assessed as per the following aspects, including age, gender, measles case, complaints resulting in the application, findings from clinical phase and magnetic resonance imaging (MRI) of brain. Results: While 68.4% (n = 13) of the patients were male, remaining 31.6% (n = 6) thereof were female. At the time of application, atonic and myoclonus seizures were seen among 31.5% (n = 6) of the patients, and mental and behavioral changes were seen among 20% (n = 4) thereof. In MRI of brain, involvement was seen the most in cortical, sub-cortical, and periventricular white matter fields. Among the findings from MRI of brain, those detected as normal were 36.8% (n = 7) of the total. Discussion: At places where SSPE is seen as endemic, presence of such psychological findings among children, including atonic and myoclonic seizures, personality changes, aggressive behaviors, or autism, should be considered as a warning. Meanwhile, it should further be considered that, MRI of the brain at the earlier stages of the disease may bring forth normal findings in high ratios

PD-1 gene polymorphism in children with subacute sclerosing panencephalitis

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. Several factors influence the risk of chronic brain infection with the mutant measles virus. However, to date, no pathogenic mechanism that may predispose to SSPE has been determined. Studies have indicated that specific polymorphisms in certain host genes are probably involved in impairing the ability of host immune cells to eradicate the measles virus in SSPE patients. Programmed cell death protein 1 (PD-1), a member of the CD28 family, is a negative regulator of the immune system. The purpose of our study was to investigate whether PD-1 gene polymorphisms affect susceptibility to the development of SSPE in Turkish children. In total, 109 subjects (54 SSPE patients and 55 healthy controls) were genotyped for the PD-1.9 C/T (rs2227982) single-nucleotide polymorphism (SNP). The distributions of T alleles in the PD-1.9 polymorphism in SSPE patients and healthy controls were 2.8 and 10.9%, respectively. There was a statistically significant difference between the groups; the 95% confidence interval (CI) was 0.06 to 0.85 and the odds ratio (OR) was 0.23 (?2 test). Thus, we identified an association between SSPE and the PD-1 rs2227982 gene polymorphism; the frequency of T alleles was higher in controls than in SSPE patients. © Georg Thieme Verlag KG Stuttgart. New York

Ophthalmo-acromelic syndrome in a Turkish infant: Case report

Ophthalmo-acromelic syndrome (OAS) is an extremely rare autosomal recessive disorder characterised by eye malformations ranging from true anophthalmia to mild microophthalmia and acromelic malformations. In this article, we report a newborn infant with OAS because of its rare presentation. He was the fourth sibling affected in the family. The parents were healthy but there was a close blood relationship between the parents. Physical examination revealed bilateral true anophthalmia and oligodactyly (bilateral four toes) on the feet. He had no other additional abnormalities. We consider that this rare syndrome could be relatively more common in our country because six Turkish cases of OAS have been reported in the English literature to date. (East African Medical Journal: 2002 79(6): 339-340

Association of interleukin 18, interleukin 2, and tumor necrosis factor polymorphisms with subacute sclerosing panencephalitis

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. The measles virus (MV) and host and environmental factors are involved in the development of SSPE, but the precise mechanism by which the MV causes SSPE is still unknown. Studies have indicated that in SSPE patients, specific polymorphisms of certain genes are most likely involved in impairing the host's ability to eradicate the MV. The purpose of our study was to elucidate the role of polymorphisms in the genes encoding interleukin (IL)-2, IL-18, and tumor necrosis factor alpha (TNF-?) in the development of SSPE. Using the polymerase chain reaction with sequence-specific primers, the single-nucleotide polymorphisms (SNPs) of the promoter regions of IL-2 (-330), TNF-? (-308), and IL-18 (-137 and -607) were studied in 54 patients with SSPE and 72 healthy controls. The frequency of SSPE patients with the AA genotype of IL-18 at position -607 was significantly higher than the frequency of those with the CC genotype (p<0.001, odds ratio [OR]: 5.76), and a significantly higher proportion of patients had the C allele at -137 compared with the controls (p=0.002, OR: 2.72). In a haplotype analysis of two SNPs in the IL-18 gene, the frequency of the CA haplotype was significantly higher in SSPE patients (p<0.001, OR: 3.99) than in the controls. The IL-2 (-330) and TNF-? (-308) polymorphisms revealed no significant differences. In conclusion, these data suggest that the IL-18 gene polymorphisms at position -607 and -137 might be genetic risk factors for the SSPE disease. © Mary Ann Liebert, Inc. 2013

Elevated serum S-100B levels in children with temporal lobe epilepsy

PubMed ID: 23146618Purpose: An elevated level of S-100B in serum is generally considered to be a biochemical marker of nervous tissue damage. According to our knowledge, no studies have evaluated the serum S-100B protein concentration in children with temporal lobe epilepsy. The objective of this study was to measure the serum levels of S-100B protein in pediatric cases with temporal epilepsy. Methods: This case-controlled cross-sectional study was performed at the Department of Pediatric Neurology, Harran University School of Medicine, Sanliurfa, in Turkey. Serum S-100B protein levels were studied in 19 (12 females, 7 males) children with temporal lobe epilepsy and in 25 (15 females, 10 males) healthy control subjects. Serum samples were collected within 30 min after a complex partial seizure, and serum S-100B protein levels were measured with an electrochemiluminescence immunoassay for the quantification of protein (ECLIA kit, Roche® Diagnostics, Germany). Results: The mean serum concentration of S-100B protein was 0.12 ± 0.02 µg/L in the temporal lobe epilepsy group and 0.07 ± 0.01 µg/L in the control group. The patients showed significantly elevated S-100B protein levels compared with healthy controls (P &lt; 0.001). Conclusion: Our data suggest that increased S-100B protein levels in the serum might reflect neuronal damage in the brains of children with temporal lobe epilepsy. These results do confirm the previous findings of elevated S-100B protein levels in adult patients with temporal lobe epilepsy. © 2012 British Epilepsy Association