Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. (January 2016)

• Record Type: Journal Article
• Authors: Bendroth-Asmussen, Lisa; Aksglaede, Lise; Gernow, Anne B.; Lund, Allan M.
• Is Part Of: International journal of gynecological pathology. Volume 35:Number 1(2016)
• Publication Date: 2016-01
• Subjects: Glycogen storage disease Type IV -- Placenta -- Intracytoplasmic inclusion vacuoles -- First trimester; Gynecologic pathology -- Periodicals; Gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; 618.10705
• DOI: 10.1097/PGP.0000000000000214
• Languages: English
• ISSNs: 0277-1691

Abstract

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.