Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular Type Glycogen Storage Disease Type IV.
Pediatr Dev Pathol 2017 Jan 1:1093526617707852. Epub 2017 Jan 1.
1 Departments of Pathology & Laboratory Medicine and Paediatrics, University of Calgary Cumming School of Medicine and Calgary Laboratory Services, Calgary, Alberta, Canada.
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Read More