ESPE Abstracts

Background: Wolcott–Rallison syndrome (WRS) is an autosomal recessive, multi-system disorder with early onset diabetes in infancy. It is associated with clinical features that show variability between WRS cases. Clinical data are still scarce.

Patient data: A 9 year old girl followed-up due to diabetes and growth failure since 2 months of age from another centre presented with ketoacidosis and multi-organ failure. After resolution of her decompansated status, evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in EIF2AK3 gene confirmed the clinical diagnosis of WRS. She was euthyroid on L-thyroxine therapy. Endocrine work-up for potential adrenal dysfunction due to persistent need for i.v. 0.9% NaCl therapy with elevated serum potassium (range 5.9–6.3 mEq/l) and low serum sodium levels (range 126–130 mEq/l) 3 weeks after resolution of ketoacidosis and multi-organ failure yielded normal findings with respect to basal and post-standard corticotropin (250 μg ACTH) cortisol levels. Plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin (39 pg/ml (range: 5.41–34.53 pg/ml)) was slightly elevated. Transtubular potassium gradient was 1.39 (normal value: >4.1). The patient was diagnosed with relative hypoaldosteronism, and was started on a diet rich in sodium and low in potassium. Failure of response to dietary intervention prompted a trial of oral fludrocortisone with subsequent normalisation of electrolyte levels.

Conclusions: This is the first case report of WRS complicated with relative hypoaldosteronism. Increased life span of patients with WRS may be associated with emergence of new endocrine dysfunctions in these patients.