title: Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.
abstract: A 29-year-old primigravida presented with a spontaneous miscarriage at 8 weeks of gestation. There was no consanguinity in the family. Aspiration was performed. Pathological examination showed immature villi with numerous slightly yellow intracytoplasmic inclusions within the early implantation stage cytotrophoblastic cells. Inclusions were periodic acid-Schiff and Alcian blue positive and partially positive with periodic acid-Schiff with amylase. Diagnosis of Glycogen storage disease type IV (GSD IV) was made. Genetic analysis of glycogen branching enzyme 1 gene (GBE1) was performed in parents and showed a novel deletion of 1 nucleotide, c.1937delT, affecting the mother and a mutation affecting a consensus splice site, c.691+2T>C, in the father. At time of subsequent pregnancy, genetic counseling with GBE1 gene analysis was performed on throphoblastic biopsy and showed a mutated allele, c.1937delT, inherited from the mother. The mother gave birth to a healthy, unaffected female newborn. Our findings demonstrate that GSD IV may affect early pregnancies, leading to trophoblastic damage and early fetal loss. Diagnosis can accurately be made on pathological examination and should be further documented by genetic analysis.
authors.affiliation: 1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
authors.forename: Linda
authors.initials: L
authors.lastname: Dainese
authors.affiliation: 1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Adam
authors.affiliation: 1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
authors.forename: Sabah
authors.initials: S
authors.lastname: Boudjemaa
authors.affiliation: 1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
authors.forename: Kamel
authors.initials: K
authors.lastname: Hadid
authors.affiliation: 2 Service de Gynécologie Obstétrique, Diagnostic Anténatal, Médecine Fœtale et Échographie, Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Rosenblatt
authors.affiliation: 2 Service de Gynécologie Obstétrique, Diagnostic Anténatal, Médecine Fœtale et Échographie, Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Jouannic
authors.affiliation: 3 Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Médicale, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Heron
authors.affiliation: 4 Laboratoire des Maladies Héréditaires du Métabolisme, Centre de Biologie Est, Hospices Civils de Lyon, 69677 BRON, France.
authors.forename: Roseline
authors.initials: R
authors.lastname: Froissart
authors.affiliation: 1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.
authors.forename: Aurore
authors.initials: A
authors.lastname: Coulomb
mesh_terms: D000022:Abortion, Spontaneous; D000328:Adult; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics* / Q000473:pathology; D011261:Pregnancy Trimester, First; D014327:Trophoblasts / Q000473:pathology*
chemical_list: D006004:Glycogen Debranching Enzyme System; C577876:GBE1 protein, human
keywords: GBE1; GSD4; early implantation; genetic; pathology; trophoblast