ABSTRACT
We describe a 27-month-old girl with COG6 deficiency. She is the first child of healthy consanguineous Moroccan parents. She presented at birth with dysmorphic features including microcephaly, post-axial polydactyly, broad palpebral fissures, retrognathia, and anal anteposition. The clinical phenotype was further characterised by multiorgan involvement including mild psychomotor retardation, and microcephaly, chronic inflammatory bowel disease, micronodular liver cirrhosis, associated with life-threatening and recurrent infections due to combined T- and B-cell dysfunction and neutrophil dysfunction.Mutation analysis showed the patient to be homozygous for the c.G1646T mutation in the COG6 gene. She is the second reported patient with a deficiency of subunit 6 of the COG complex. Although both patients are homozygous for the same mutation, they present a markedly different clinical picture. Indeed immunodeficiency as well as inflammatory bowel disease has not been described previously in patients with any COG-CDG.
ABSTRACT
To investigate the prevalence of Helicobacter pylori infection in pediatric patients infected with the human immunodeficiency virus, we sought to detect the presence of antibodies against this organism in 23 human immunodeficiency virus-infected children of central African ethnic origin by means of a second-generation enzyme-linked immunoassay (ELISA) test for the detection of immunoglobulin G (IgG) antibodies to Helicobacter pylori (Malakit Helicobacter pylori, Biolab, Limal, Belgium). They were compared to an asymptomatic control population matched for age and ethnic origin. Blood samples were taken during routine blood analysis before the monthly administration of intravenous gamma-globulins in the human immunodeficiency virus-infected patients and during preoperative blood analysis in the control population. Despite the fact that most human immunodeficiency virus-infected patients had IgG antibodies against other frequently encountered pathogens, none of them had a positive serology for Helicobacter pylori, compared to 10 of 52 patients (19.2%) in the control population. This difference is statistically significant (p = 0.01).
Subject(s)
Antibodies, Bacterial/blood , HIV Infections/microbiology , Helicobacter pylori/immunology , Immunoglobulin G/blood , Adolescent , Child , Child, Preschool , Enzyme-Linked Immunosorbent Assay , Female , HIV Infections/blood , HIV Infections/immunology , Humans , Infant , MaleABSTRACT
Abdominal ultrasound was performed in 58 children presenting with proven acute hepatitis A and in 63 controls of the same age. There are well-known echographic signs of hepatitis (liver enlargement, gallbladder wall thickening, periportal hyperechogenicity) but they were not constantly found. We describe in all the hepatitis cases an enlargement of lymph nodes located in the hepatic hilum, pancreatic area and small omentum: they appeared hyperechogenic at the centre with hypoechogenic outer layer. Such enlarged lymph nodes were not observed in the controls.