Department of Anaesthesia, Birmingham Heartlands Hospital, Birmingham, UK
Department of Obstetrics and Gynaecology, Birmingham Heartlands Hospital, Birmingham, UK.
BMJ Case Rep. 2021 Jul 1;14(7):e241424. doi: 10.1136/bcr-2020-241424.
Hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome is a rare inherited metabolic disorder of the urea cycle. Few reports exist to guide practices during pregnancy and fetal delivery. Yet, with affected patients often surviving into reproductive age, appropriate management of the peripartum phase is essential to ensure positive maternal and fetal outcomes.Reassuringly, the vast majority of offspring of parturients with HHH syndrome have normal developmental outcomes; yet as seen here, fetal growth restriction does appear more frequently. Furthermore, in addition to the absent fetal corpus callosum observed in this case, other fetal cerebral abnormalities, including speech delay and intellectual impairment, have been recognised.Unregulated dietary intake is one proposed factor for the observed disruption in fetal growth and early cerebral development. These stipulations not only reinforce the importance of extensive planning and teamwork, but also demonstrate the importance of timely intervention by a metabolic dietician and dietary compliance in the early organogenesis stage of pregnancy.
高鸟氨酸血症-高血氨症-同型瓜氨酸尿症（HHH）综合征是一种罕见的尿素循环遗传性代谢紊乱。目前关于妊娠和分娩期间的实践指导仅有少数报道。然而，由于受影响的患者通常能够存活到生育年龄，因此围产期的适当管理对于确保母婴良好结局至关重要。值得庆幸的是，HHH 综合征产妇的绝大多数子女发育结局正常；然而，如本病例所见，胎儿生长受限似乎更为常见。此外，除了本病例中观察到的胎儿胼胝体缺失外，还发现了其他胎儿大脑异常，包括言语延迟和智力障碍。饮食摄入不受控制是导致胎儿生长和早期大脑发育中断的一个原因。这些规定不仅强调了广泛规划和团队合作的重要性，还说明了在妊娠早期器官发生阶段，代谢营养师的及时干预和饮食依从性的重要性。
