• Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher's disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher's disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher's disease.

Background:Gaucher disease (GD) is caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Enzyme replacement therapy (ERT) is recommended for clinical improvement.Methods:The efficacy and safety of a new imiglucerase, Abcertin, were assessed in 7 Egyptian patients with treatment-naïve type 1 GD. Each patient was administered a biweekly 60 U/kg dose of Abcertin for 6 months. The primary endpoint was the change in hemoglobin concentration. The secondary endpoints were changes from baseline in platelet counts, spleen and liver volumes, biomarker levels, skeletal parameters, and bone mineral density.Results:The hemoglobin concentration increased by a mean of 1.96 ± 0.91 g/dL (range 1.11–2.80 g/dL) or 20.6% (P = .001). Statistically significant increases in the platelet count and decreases in the spleen volume and biomarker levels were also observed. There were no severe drug-related adverse events. One patient developed anti-imiglucerase antibodies without neutralizing activity.Conclusion:Our study results demonstrate the efficacy and safety of Abcertin in patients with type 1 GD. This suggests that Abcertin can be an alternative ERT option for type 1 GD.

Introduction Human astrovirus (HAstV) has been increasingly identified as an important cause of acute gastroenteritis in young children. Limited information is available about the prevalence and genotype distribution of classic HAstV causing acute gastroenteritis in Egyptian children.Methods Stool samples were collected from 100 infants and children attending the gastroenterology outpatient clinic in Mansoura University Children Hospital and suffering from acute gastroenteritis during the period extending from January 2018 to January 2019. Samples were tested for HAstV using reverse transcription PCR. Genotyping was performed using type-specific reverse transcription nested PCR.Results Among 100 children included in this study, the detection rate of HAstV was 11% (11 patients). There was a significant difference regarding age between cases positive and negative for HAstV (p=0.005). There was a higher prevalence of HAstV in children aged one year or younger. Significant association was detected between HAstV positive cases and rural residence (p=0.002), summer season (p=0.025) and fever (p=0.017). The HAstV genotypes detected were HAstV-8 (8/11, 72.7%), HAstV-3 (2/11, 18.2%) and HAstV-2 (1/11, 9.1%).Conclusions This study suggests that HAstV is a common pathogen causing gastroenteritis in Egyptian children especially in rural areas. The most frequent HAstV genotype in our study was HAstV-8. Keywords Astrovirus, gastroenteritis, diarrhea, children, genotypes. Introduction1Acute gastroenteritis or infectious diarrhea is a common cause of morbidity and mortality in children below five years. The reported mortality rates in 2016 were 446,000 for children below 5 years. Most of these deaths are in developing

Introduction The objective of the present study was to evaluate the prevalence of hepatitis E virus in acute hepatitis in pediatric patients. Methods This was a cross-sectional study including 180 children with acute hepatitis. Blood samples were obtained and subjected to study the serological markers of hepatitis B surface antigen (HBsAg), hepatitis B core IgM (HBc IgM), hepatitis C IgG (HCV IgG) and hepatitis A IgM (HAV IgM), hepatitis E IgM and IgG, cytomegalovirus IgM (CMV IgM) and specific antibodies IgM for Epstein Barr virus by ELISA. Also ELISA attempted the laboratory diagnosis of autoantibodies by performing assay of antinuclear and anti-smooth muscle antibodies. Real time PCR was used for determination of HEV-RNA in samples positive for HEV serological markers. Results From a total of 180 children with acute jaundice 69.4% were males and 39.6% were females with mean age ± standard deviation 5.8±3.5 years. Positive HEV markers were found in 47 patients (26.1%). A comparison between demographic, clinical and laboratory findings in children with positive HEV markers and children negative for HEV markers, revealed significant association with contact of animals (p=0.001), rural residence (p=0.001), presence of positive autoantibodies (p=0.001) and positive HAV IgM (p=0.001). The markers of hepatitis E virus showed significantly higher prevalence in children below age of 6 years (p=0.04). Conclusions HEV infection is more common in preschool age. There is a significant association between contact with animals, rural residence and other hepatitis affection like autoimmune hepatitis and other viral hepatitis viruses such as hepatitis A.