ICEECE2012 Poster Presentations Paediatric endocrinology (47 abstracts)
Careggi Hospital, Florence, Italy.
Introduction: Since Addison disease is relatively rare and difficult to recognize in childhood delayed diagnosis is common. Patients with adrenal insufficiency generally show hypotension, hypoglycaemia, hyponatriemia, but can also manifest mild symptoms like chronic fatigue, nausea, vomiting, weight loss, recurring abdominal pain and psychiatric symptoms. In this regard mild disturbances in mood, motivation and behavior represent the main clinical features showing a prevalence between 64 and 84%.
Case report: The patient was admitted at age of 12 years old with severe physical impairment; in the past 3 years he had a marked decrease in height and weight growth velocity with values below 3rd centile and BMI 12. He presented hyponatremia, food refusal, vomiting and psychiatric symptoms like emotional lability, depressed mood and fear of dying. He alternated these symptoms with episodes of euphoria with rapid cycles, strong opposition temper tantrums. During hospitalization the patient was fed by parenteral nutrition and then by enteral nutrition by Nasogastric Tube with poor weight recover and costant hyponatriemia. In this period psychiatric symptoms had been slightly improving with antipsychotic therapy. After several weeks an endocrinological assessment was requested, with subsequent diagnosis of autoimmune adrenal insufficiency (serum cortisol 48 nmol/l, ACTH 3330 ng/l and antiadrenal antibodies positivity).
Replacement therapy with corticosteroids, led to correction of electrolyte disturbances and a dramatic improvement of the eating disorder, with fast weight recovery (BMI 16 two months later). After a temporary exacerbation of psychiatric symptoms a gradual improvement was observed with a complete remission. Despite a good compliance to therapy, the delay in growth velocity persisted. After 1 year GH deficiency was diagnosed, likely related to autoimmune pituitary disease.
Conclusions: Symptoms in Addisons disease can be heterogeneous and difficult to recognize in childhood; a careful evaluation is therefore necessary. Furthermore psychiatric symptoms can be prevalent, leading to incorrect or delayed diagnosis.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.