title: Placental involvement in glycogen storage disease type IV.
abstract: Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE) deficiency and resulting in the storage of abnormal glycogen (polyglucosan). Prenatal diagnosis is based on biochemical assay of GBE activity or on mutation analysis, but polyglucosan can also be identified histologically in fetal tissues. We document placental involvement at 25 and 35 weeks of gestation in two cases with genetically confirmed GSD IV. Intracellular inclusions were seen mainly in the extravillous trophoblast. Our findings suggest the possibility of prenatal diagnosis by histological evaluation of placental biopsies.
authors.affiliation: Department of Pathology, Medical Faculty, National Kapodistrian University of Athens, Greece. ankon@med.uoa.gr
authors.forename: A E
authors.initials: AE
authors.lastname: Konstantinidou
authors.forename: H
authors.initials: H
authors.lastname: Anninos
authors.forename: S
authors.initials: S
authors.lastname: Dertinger
authors.forename: A
authors.initials: A
authors.lastname: Nonni
authors.forename: M
authors.initials: M
authors.lastname: Petersen
authors.forename: C
authors.initials: C
authors.lastname: Karadimas
authors.forename: S
authors.initials: S
authors.lastname: Havaki
authors.forename: E
authors.initials: E
authors.lastname: Marinos
authors.forename: H O
authors.initials: HO
authors.lastname: Akman
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: E
authors.initials: E
authors.lastname: Patsouris
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics / Q000378:metabolism; D000653:Amniotic Fluid / Q000201:enzymology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005333:Fetus / Q000378:metabolism / Q000473:pathology; D005936:Glucans / Q000032:analysis; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D046529:Microscopy, Electron, Transmission; D009154:Mutation; D010920:Placenta / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D050497:Stillbirth / Q000235:genetics
chemical_list: D005936:Glucans; C083094:polyglucosan; D015061:1,4-alpha-Glucan Branching Enzyme