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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue

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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.

Original languageEnglish
JournalInternational journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
Volume35
Issue number1
Pages (from-to)38-40
DOIs
Publication statusPublished - 2016

ID: 45845216