Department of Pathology, The University of Chicago, Chicago, Illinois.
Int J Gynecol Pathol. 2019 Jul;38(4):346-352. doi: 10.1097/PGP.0000000000000506.
Mucolipidosis type II, also known as I-cell disease, is an autosomal recessive inborn error of metabolism, resulting from loss-of-function mutations in GNPTAB. Affected infants exhibit multiple physical anomalies and developmental delay, and death from disease follows in early childhood. Here we present an instructive case of mucolipidosis type II affecting 1 fetus and placental disk in a dichorionic-diamnionic twin pregnancy delivered at 36-wk gestation. The second twin and placental disk showed no abnormality. On microscopic examination, the affected placenta displayed marked vacuolization of the syncytiotrophoblast and Hofbauer cells, which was confirmed on ultrastructural examination. To our knowledge, this is the first description of placental findings in a twin pregnancy, wherein only 1 twin is affected by an inborn error of metabolism. This provides an opportunity to highlight the placental abnormalities seen in this group of diseases, and to emphasize the role of pathologic examination in early detection of otherwise unsuspected inborn errors of metabolism.
黏脂贮积症 II 型，又称 I 细胞病，是一种常染色体隐性遗传性代谢缺陷病，由 GNPTAB 基因功能丧失性突变引起。受累婴儿表现出多种身体异常和发育迟缓，疾病导致的死亡发生于儿童早期。本研究报道了一例二绒毛膜-双羊膜囊妊娠中 1 个胎儿及其胎盘受黏脂贮积症 II 型影响的病例，该孕妇于 36 周妊娠分娩。另 1 个胎儿及其胎盘未见异常。镜下检查显示，受累胎盘合体滋养细胞和枯否细胞空泡化明显，超微结构检查进一步证实了这一发现。据我们所知，这是首例黏脂贮积症 II 型在双胎妊娠中仅 1 个胎儿受累的病例报道，为这类疾病的胎盘异常提供了研究机会，并强调了病理检查在早期发现隐匿性代谢缺陷病中的作用。
