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

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

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.

L. Aksglaede | A. Gernow | Allan Lund | Lisa Bendroth-Asmussen

[1] A. Coulomb,et al. Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation , 2016, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[2] D. Figarella-Branger,et al. Non‐lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations , 2009, Muscle & nerve.

[3] S. Dimauro,et al. Placental involvement in glycogen storage disease type IV. , 2008, Placenta.

[4] S. Dimauro,et al. Prenatal diagnosis of glycogen storage disease type IV , 2006, Prenatal diagnosis.

[5] M. Rolland,et al. Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family , 2005, American journal of medical genetics. Part A.

[6] R. Parvari,et al. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. , 2002, Current molecular medicine.

[7] K. Murphy,et al. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. , 1999, American journal of medical genetics.

[8] Yuan-Tsong Chen,et al. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. , 1996, The Journal of clinical investigation.