Addison disease 10 years after bone marrow transplantation for Wiskott-Aldrich syndrome

We report a 10-year-old boy with familial Wiskott-Aldrich syndrome (WAS) who underwent successful bone marrow transplantation (BMT) at the age of 9 months. With the exception of auto-immune haemolytic anaemia due to warm antibodies lasting 15 months there had not been any complication after BMT. Ten years later the patient presented with diarrhoea, hyperpigmentation of skin and oral mucosa, fatigue and polyuria. Diagnosis of Addison disease was confirmed by typical electrolyte imbalance and absent cortisol response to adrenocorticotrophic hormone. Adrenal antibodies were positive. On therapy with oral gluco- and mineralocorticoids, the symptoms disappeared and electrolytes normalized. To our knowledge auto-immuno endocrinopathy after BMT for WAS has not yet been reported.

This is the first report of auto-immune adrenal insufficiency after BMT for WAS. The aetiopathogenesis of this condition remains unknown since auto-immune diseases as toxic side-effects of the ablative treatment before BMT have not yet been reported, and a relapse of WAS and cotransplantation of auto-immune adrenal insufficiency have been ruled out.