Metabolic Medicine Department, Center of Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands.
Obstetric Department, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
BMJ Case Rep. 2020 Aug 3;13(8):e234055. doi: 10.1136/bcr-2019-234055.
This case illustrates the importance of multidisciplinary counselling and management of pregnancies in women with complex medical conditions, especially concerning women with cognitive impairment. We present a woman with hyperinsulinism/hyperammonaemia (HI/HA) syndrome. This syndrome is characterised by recurrent episodes of hypoglycaemia and elevated ammonia levels, which are potentially harmful to both the patient and a developing fetus. We describe a successful multidisciplinary approach during the pregnancy of a mentally challenged patient with HI/HA syndrome. This case illustrates the importance of personalised counselling during the preconception period and emphasises to include all disciplines involved in the medical and daily care of such a patient. In our case, the extensive multidisciplinary care during the preconception period, pregnancy, delivery and postpartum period resulted in a good maternal and neonatal outcome.
本病例说明了对患有复杂疾病的女性,特别是认知障碍女性进行妊娠的多学科咨询和管理的重要性。我们介绍了一位患有胰岛素过多/高血氨(HI/HA)综合征的女性。该综合征的特征是反复发作的低血糖和血氨水平升高,这对患者和发育中的胎儿都有潜在的危害。我们描述了一位患有 HI/HA 综合征的智力障碍患者在妊娠期间成功采用多学科方法进行治疗。该病例说明了在受孕前阶段进行个性化咨询的重要性,并强调了在对这样的患者进行医疗和日常护理时应纳入所有相关学科。在我们的病例中,广泛的多学科在受孕前、妊娠、分娩和产后期间的护理,最终实现了良好的母婴结局。