Yuki Kamihara, Katsusuke Ozawa, Jin Muromoto, Rika Sugibayashi, Seiji Wada, Yuka Shibata, Asuka Hori, Fuyuki Hasegawa, Kenichiro Hata, Haruhiko Sago
Mucopolysaccharidosis (MPS)-VII, called Sly disease, is a lysosomal storage disorder that can cause fetal hydrops, including fetal hydrothorax (FHT). We describe two fetal cases that received thoracoamniotic shunting for FHT, which was later found to be associated with MPS-VII by exome sequencing. Bilateral FHT accompanied by skin edema and ascites was found before 20 weeks of gestation in both cases. One fetus died in utero at 35 weeks of gestation, and the other survived with preterm delivery at 30 weeks of gestation...
July 19, 2023: Journal of Obstetrics and Gynaecology Research