Endocrine Abstracts

Introduction: Ganglioneuroma is a rare benign tumour arising from neural crest sympathogonia. It is usually asymptomatic and non functional. An association between ganglioeneuroma and genetic or autoimmune diseases such as Addison’s disease or Mediterranean fever has never been described.

Case description: We report the case of a 24-year-old woman presenting with paroxysmal abdominal pain with loss of weight and no fever. Physical examination along with biological and hormonal explorations were normal. CT scan showed a solid tumour of the right adrenal gland, measuring 50×31 mm, with no sign of malignancy and a moderate ascites, so the patient underwent adrenalectomy. Anatomopathological examination of the adrenal gland confirmed the presence of a ganglioneuroma, and the patient presented an adrenal insufficiency 4 days after the surgery. Addison’s disease was confirmed with positive anti- adrenal antibodies, with anti-21-hydroxylase at 2866.9 U/ml and she received corticosteroid replacement therapy. The patient continued to have recurrent abdominal pain, fever and ascites. A Mediterranean fever was suspected, and she was put on colchicine 1 mg per day, with improvement of paroxysmal abdominal pain. Genetic confirmation is underway.

Conclusion: We report for the first time an association between ganglioneuroma, Addison’s disease and Mediterranean fever whose clinical features can be confused. A possible underlying genetic mechanism can be suspected rather than just a random association.