A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites

• Main Authors: Kana Fukui (Author), Shoichiro Amari (Author), Nobuyuki Yotani (Author), Rika Kosaki (Author), Kenichiro Hata (Author), Motomichi Kosuga (Author), Haruhiko Sago (Author), Tetsuya Isayama (Author), Yushi Ito (Author)
• Format: Book
• Published: Thieme Medical Publishers, Inc., 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate was born by emergency cesarean section due to feta...