The detailed obstetric course of the first Japanese patient with AEBP1‐related Ehlers–Danlos syndrome (classical‐like EDS, type 2)

摘要

Abstract We reported a detailed obstetric course of a Japanese patient with Ehlers–Danlos syndrome (EDS) caused by biallelic pathogenic variants in the AEBP1 gene. She was diagnosed with classical EDS at 3?years of age. At 33?years, whole‐exome sequencing revealed a homozygous nonsense variant (c.1894C?>?T:p.Arg632*) in AEBP1. This is the 10th case of AEBP1‐related EDS (classical‐like EDS type 2) and the first in Japan. She was managed as an inpatient at our hospital beginning at 20?weeks of gestation because of the possibility of high‐risk pregnancy. She experienced painful urinary retention, migraines, and threatened premature labor. She delivered a healthy female via elective caesarean section at 32?weeks of gestation. She was treated in the intensive care unit for severe paralytic ileus, postoperatively. Conservative therapy resulted in favorable outcomes, and she was safely discharged on postdelivery day 22nd.