title: DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.
abstract: The literature describes eight cases of mutations in the DPM1 gene generating DMP1-CDG, causing similar phenotype of early onset seizures, microcephaly and developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involvement, i.e. food protein induced enterocolitis syndrome (FPIES). Gastrointestinal manifestations (GIT) of the congenital glycosylation disorders have included deranged liver function, hepatomegaly, liver fibrosis, steatosis and protein-losing enteropathy. This is the first report of a congenital glycosylation disorder being associated with FPIES.
authors.affiliation: Neuroscience Department, The Lady Cilento Children's Hospital, Stanley Street, Brisbane, 4101, QLD, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Bursle
authors.affiliation: Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia.|UnitingCare Clinical School, The Wesley Hospital, Brisbane, QLD, Australia.|The School of Medicine, Griffith University, Gold Coast, QLD, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Brown
authors.affiliation: Advanced Medical Diagnostics, Waterloo, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Cardinal
authors.affiliation: Department of Gastroenterology, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
authors.forename: F
authors.initials: F
authors.lastname: Connor
authors.affiliation: Neuroscience Department, The Lady Cilento Children's Hospital, Stanley Street, Brisbane, 4101, QLD, Australia.|The School of Medicine, University of Queensland, Brisbane, QLD, Australia.
authors.forename: S
authors.initials: S
authors.lastname: Calvert
authors.affiliation: Neuroscience Department, The Lady Cilento Children's Hospital, Stanley Street, Brisbane, 4101, QLD, Australia. david.coman@health.qld.gov.au.|Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia. david.coman@health.qld.gov.au.|UnitingCare Clinical School, The Wesley Hospital, Brisbane, QLD, Australia. david.coman@health.qld.gov.au.|The School of Medicine, Griffith University, Gold Coast, QLD, Australia. david.coman@health.qld.gov.au.|The School of Medicine, University of Queensland, Brisbane, QLD, Australia. david.coman@health.qld.gov.au.|Advanced Medical Diagnostics, Brisbane, QLD, Australia. david.coman@health.qld.gov.au.
authors.forename: D
authors.initials: D
authors.lastname: Coman