Glycogen storage disease type iv: a case with histologic findings in placental tissue from first trimester miscarriage

Abstract

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. This variable disorder can be diagnosed by histopathology of the placenta but for its confirmation and prevention in subsequent pregnancies, genetic analysis is needed.