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.
Subject(s)
Hyperammonemia/complications , Hyperammonemia/therapy , Hyperinsulinism/complications , Hyperinsulinism/therapy , Intellectual Disability/complications , Pregnancy Complications/therapy , Adult , Diazoxide/administration & dosage , Diazoxide/adverse effects , Diet, Carbohydrate Loading , Directive Counseling , Female , Humans , Hyperammonemia/blood , Hypoglycemia/etiology , Hypoglycemia/prevention & control , Patient Care Team , Preconception Care , Pregnancy , Pregnancy Outcome , SyndromeABSTRACT
A 57-year-old woman presented with pain in her upper right abdomen, since 3 days. Laboratory tests showed elevated inflammation markers and an increased amount of alkaline phosphatase. Abdominal CT showed a perforating object from the stomach, ending in the liver. Gastroscopy revealed that the object was a fish bone.
