Pellisé-Tintoré Maria, Paltrinieri Anna Lucia, Abulí Anna, Murillo Elena, Serrano Ariana, Albaigés Gerard
Department of Obstetrics, Gynaecology and Reproduction, Dexeus Universitary Hospital, Barcelona, Spain.
Department of Neonatology and Pediatrics, Dexeus Universitary Hospital, Barcelona, Spain.
Case Rep Perinat Med. 2023 Apr 27;12(1):20220026. doi: 10.1515/crpm-2022-0026. eCollection 2023 Jan.
Amniotic fluid is essential for proper fetal development. In the case of severe polyhydramnios associated with low fetal growth, a number of different underlying disorders must be considered. One such condition is congenital central hypoventilation syndrome (CCHS) or Ondine's curse, a rare genetic disease caused by mutation of the PHOX2B gene. The incidence of CCHS is estimated to be 1 case in 200,000 live births. No publications have been made to date on the intrauterine period findings. This precludes an early intrauterine diagnosis and impedes ethically responsible therapeutic options.
A 37-year-old patient presented in her second pregnancy with a small for gestation fetus and severe polyhydramnios evidenced in the third trimester ultrasound (US) study. There were no previous signs of maternal diabetes or fetal abnormalities at US. During the immediate postpartum period, the newborn presented repeated apneas with cyanosis and hypo-responsiveness. Neonatal arterial blood gas testing revealed severe respiratory acidosis requiring orotracheal intubation and admission to the Neonatal Intensive Care Unit. Over the following days, all imaging and functional test findings were within normal ranges. A pathogenic PHOX2B variant was identified.
Despite a high mortality rate, no neurological sequelae or other systemic diseases were recorded, thanks to multidisciplinary and coordinated follow-up.
羊水对胎儿的正常发育至关重要。在与胎儿生长受限相关的严重羊水过多病例中，必须考虑多种不同的潜在疾病。其中一种情况是先天性中枢性低通气综合征（CCHS）或翁丁氏诅咒，这是一种由PHOX2B基因突变引起的罕见遗传病。据估计，CCHS的发病率为每20万活产中有1例。迄今为止，尚未有关于宫内期发现的出版物。这排除了早期宫内诊断，并阻碍了符合伦理的负责任治疗选择。
一名37岁患者在第二次怀孕时出现胎儿小于孕周，且在孕晚期超声检查中发现严重羊水过多。超声检查之前未发现母体糖尿病或胎儿异常的迹象。产后即刻，新生儿出现反复呼吸暂停伴发绀和反应低下。新生儿动脉血气检测显示严重呼吸性酸中毒，需要经口气管插管并入住新生儿重症监护病房。在接下来的几天里，所有影像学和功能检查结果均在正常范围内。发现了一种致病性PHOX2B变异。
尽管死亡率很高，但由于多学科协调随访，未记录到神经后遗症或其他全身性疾病。
