Yu Weiming, Brundler Marie-Anne, Wright James R
1 Departments of Pathology & Laboratory Medicine and Paediatrics, University of Calgary Cumming School of Medicine and Calgary Laboratory Services, Calgary, Alberta, Canada.
Pediatr Dev Pathol. 2018 Jul-Aug;21(4):423-427. doi: 10.1177/1093526617707852. Epub 2017 May 12.
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD 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-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease type IV with extensive involvement of skeletal muscle, heart, and liver. The diagnosis was confirmed by molecular genetic testing. We could only find 1 prior report in the English literature that describes placental pathological changes. Our findings suggest that placental examination can be a useful adjunct for early diagnosis, as placentas are often received for pathological examination shortly after birth and usually before a diagnostic muscle biopsy can be performed. Pathologists need to be aware of characteristic placental features.
致死性婴儿神经肌肉型是IV型糖原贮积病（GSD IV）最严重的形式。我们报告了一例孕34周出生的22日龄女婴，出生时伴有羊水过多、胎儿水肿和严重肌张力减退。胎盘检查显示，在胎盘基底板的绒毛外滋养层细胞质中发现大量高碘酸希夫染色阳性且抗淀粉酶的多聚葡萄糖体。肌肉活检和尸检结果支持诊断为神经肌肉型IV型糖原贮积病，骨骼肌、心脏和肝脏均广泛受累。分子遗传学检测证实了诊断。我们仅在英文文献中找到1篇描述胎盘病理变化的既往报告。我们的研究结果表明，胎盘检查可作为早期诊断的有用辅助手段，因为胎盘通常在出生后不久且通常在进行诊断性肌肉活检之前就会接受病理检查。病理学家需要了解胎盘的特征性表现。
