1.
Placenta
; 29(4): 378-81, 2008 Apr.
Article
in English
| MEDLINE
| ID: mdl-18289670
ABSTRACT
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE) deficiency and resulting in the storage of abnormal glycogen (polyglucosan). Prenatal diagnosis is based on biochemical assay of GBE activity or on mutation analysis, but polyglucosan can also be identified histologically in fetal tissues. We document placental involvement at 25 and 35 weeks of gestation in two cases with genetically confirmed GSD IV. Intracellular inclusions were seen mainly in the extravillous trophoblast. Our findings suggest the possibility of prenatal diagnosis by histological evaluation of placental biopsies.
Subject(s)
Fetal Diseases/diagnosis , Glycogen Storage Disease Type IV/diagnosis , Placenta/pathology , 1,4-alpha-Glucan Branching Enzyme/genetics , 1,4-alpha-Glucan Branching Enzyme/metabolism , Amniotic Fluid/enzymology , Female , Fetal Diseases/genetics , Fetus/metabolism , Fetus/pathology , Glucans/analysis , Glycogen Storage Disease Type IV/genetics , Humans , Infant, Newborn , Microscopy, Electron, Transmission , Mutation , Placenta/metabolism , Placenta/ultrastructure , Pregnancy , Prenatal Diagnosis/methods , Stillbirth/genetics
2.
Histopathology
; 48(7): 878-80, 2006 Jun.
Article
in English
| MEDLINE
| ID: mdl-16722943