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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue

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Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftInternational journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
Vol/bind35
Udgave nummer1
Sider (fra-til)38-40
DOI
StatusUdgivet - 2016

ID: 45845216