RESUMO
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.
Assuntos
Hiperamonemia/complicações , Hiperamonemia/terapia , Hiperinsulinismo/complicações , Hiperinsulinismo/terapia , Deficiência Intelectual/complicações , Complicações na Gravidez/terapia , Adulto , Diazóxido/administração & dosagem , Diazóxido/efeitos adversos , Dieta da Carga de Carboidratos , Aconselhamento Diretivo , Feminino , Humanos , Hiperamonemia/sangue , Hipoglicemia/etiologia , Hipoglicemia/prevenção & controle , Equipe de Assistência ao Paciente , Cuidado Pré-Concepcional , Gravidez , Resultado da Gravidez , SíndromeRESUMO
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.