title: Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
abstract: A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene. We conclude that glycogen storage disease Type IV can cause early miscarriage and that diagnosis can initially be made on histopathologic examination. Genetic analysis is required to confirm the diagnosis and to offer prenatal genetic testing in future pregnancies.
authors.affiliation: Departments of Pathology (L.B.-A., A.B.G.) Clinical Genetics (L.A., A.M.L.), Copenhagen University Hospital, Copenhagen, Denmark.
authors.forename: Lisa
authors.initials: L
authors.lastname: Bendroth-Asmussen
authors.forename: Lise
authors.initials: L
authors.lastname: Aksglaede
authors.forename: Anne B
authors.initials: AB
authors.lastname: Gernow
authors.forename: Allan M
authors.initials: AM
authors.lastname: Lund
mesh_terms: D000022:Abortion, Spontaneous; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA
chemical_list: D006004:Glycogen Debranching Enzyme System; C577876:GBE1 protein, human