Introduction Guillain–Barré syndrome (GBS) is an autoimmune peripheral neuropathy characterized by demyelination and axonal damage. Biallelic functional polymorphisms in the immunoglobulin G Fc receptors (FcγR)–FcγRIIA: H131/R131, FcγRIIIA: V158/F158, and FcγRIIIB: NA1/NA2 affect the affinity of the IgG–FcγR interaction, therefore, diseases such as GBS in which this interaction plays a critical role might be influenced by the polymorphisms. Methods We evaluated the role of FcγR polymorphisms in susceptibility to GBS in Egyptian pediatric patients and the association of the variant alleles with neurophysiological types, severity, and outcome of the disease. A total of 50 patients with GBS and 50 controls were examined for FcγR polymorphisms by allele-specific polymerase chain reaction. Results FcγRIIA H131 allele (p = < 0.0001; odds ratio [OR] = 4.78; 95% confidence interval [CI], 2.62–8.70) and FcγRIIA H/H131 genotype (p = < 0.0001 ; OR = 10.56; 95% CI, 3.59–31.06) were significantly increased in GBS patients while FcγRIIIA and FcγRIIIB allelic distributions were similar among patients and controls. The FcγR genotypes showed no association with neurophysiological types of GBS, severity or outcome of the disease. Conclusions These findings reflect that FcγRIIA H131 allele may represent a risk marker for susceptibility to GBS.
Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and others. Pre-symptomatic diagnosis is achieved within neonatal screening programs, otherwise the diagnosis is delayed and challenging. Aim of work: To search for a specific magnetic resonance imaging (MRI) diagnostic finding common to OAs. Material and Methods: This cross-sectional descriptive study included 42 children with confirmed organic acidemias following up at the Neurometabolic Clinic at Center for Social and Preventive Medicine, Pediatric Hospitals, Cairo University, Egypt. MRI brain scans were performed on a (1.5 T Aera machine).Results: The study included 42 children with a median age of 36 months. Of them 29 (69%) were males and 13 (31%) were females, with male to female ratio of 2.23:1. Glutaric academia type 1 was confirmed in 26 (61.9%) followed by methylmalonic academia in 7 (16.67%), isovaleric academia in 3 (7.14%), propionic academia in 3 (7.14%), pyroglutamic academia in 2 (4.76%) and D2 hydroxy glutaric acidemia in 1 (2.38%). Abnormal signal in basal ganglion was encountered in 20 (47.6%), followed by cortical atrophy in 11 (26.2%), white matter changes in 11 (26.2%), temporal lobe hypovolemia in 10 (23.8%), ventricular dilatation in 6 (16.7%), arachnoid cyst in 4 (9.5%), normal MRI brain in 3 (7.1%) and encephalomalacia in 2 (4.8%). No specific imaging finding was associated with OAs or its type. Conclusion: MRI findings of brain are common but not unique in organic acidemias or its types, but is not sensitive or specific. Normal MRI brain does not exclude the diagnosis of OAs.
Background/Objectives: The purpose of this study was to determine the influence of H. pylori eradication on the serum level of the orally administered valproic acid (VPA) in children with idiopathic generalized epilepsy; Methods: This prospective cohort observational study included 100 children with idiopathic generalized epilepsy, recruited from a neurology clinic from May 2021 to December 2021. The patients were divided into two groups, each containing 50 children. The first group had a positive H. pylori stool antigen and H. pylori-related symptoms, while the second group had a negative antigen. H. pylori Eradication therapy was given to the positive H. pylori group. The serum level of VPA was obtained at baseline and 4 weeks after eradication therapy. Results: Despite there being no significant difference between the H. pylori-positive and H. pylori-negative groups regarding the baseline VPA serum level (79.9 ± 13.9 and 77.9 ± 13.1 mcg/mL), respectively, the serum VPA level had significantly increased after H. pylori eradication therapy (99.4 ± 11 mcg/mL) (p value = 0.000), as opposed to the H. pylori-negative group (85.3 ± 10.9 mcg/mL) (p value = 0.142). Furthermore, there was a statistically significant association with a negative correlation between the VPA serum level after eradication and the number of epileptic attacks per month (p value = 0.033, R value = −0.301) and the dose of VPA (p value = 0.046, R value = −0.284). Conclusions: The eradication of H. pylori resulted in a highly significant improvement in the serum level of the orally given VPA in children with idiopathic generalized epilepsy, as well as an indirect decrease in the frequency of epileptic events per month, allowing for dose reduction. Eradication therapy may have anticonvulsant properties and might indirectly aid in the management of epileptic activity. H. pylori screening for children with idiopathic generalized epilepsy can optimize serum VPA levels, potentially leading to better seizure control. To our knowledge, this is the first study in the literature to describe the effect of H. pylori eradication on the serum level of the orally administered VPA in children with idiopathic generalized epilepsy.