Anastasia Papakonstantinou, Konstantinos Zacharis, Stavros Kravvaritis, Theodoros Charitos, Eleni Chrysafopoulou, Anastasia Fouka
Glycogen storage disease Type IV is a rare hereditary autosomal recessive disorder caused by deficient enzymatic activity of glycogen branching enzyme (GBE) which is encoded by GBE1 gene. We hereby report the case of a 32-year-old woman presented with a first-trimester miscarriage. The histologic findings of the placental tissue included intracytoplasmic inclusion vacuoles suggested GSD‐IV. The diagnosis was confirmed by the genetic analysis of the parents, in which mother was found to be carrier of a GBE1 mutation…