Article Text
Abstract
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.
- pregnancy
- metabolic disorders
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Footnotes
Twitter @Metabolic medicine department, Center of lysosomal and metabolic diseases, Erasmus MC, Rotterdam, the Netherlands
BJMB and MB contributed equally.
Contributors BJMB, MB, HH, ML, JL, SS contributed equally to this paper. BJMB initiated the case for a case report together with MB, SS and JL. Together with MB, SS and JL the design of the paper was established. BJMB conducted and revised the paper concerning the metabolic and internal medicine part, generated and interpreted laboratory results and patient information data from our patient information system. MB conducted and revised the paper concerning obstetric medicine, generated and interpreted laboratory results and patient information data from our patient information system. HH provided analysis and interpretation of data concerning the paediatric aspect of the article, revised different concepts of the paper critically and has given his final approval before publishing. ML provided analysis and interpretation of data concerning the metabolic medicine aspect of the article, revised different concepts of the paper critically and has given her final approval before publishing. JL and SS provided analysis and interpretation of data, revised different concepts of the paper critically and has given her final approval before publishing.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.