Introduction: Nelsons syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushings disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelsons syndrome.
Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure. He was diagnosed with ACTH-dependent hypercortisolism, with no focal lesion on pituitary MRI. He was unfit for transsphenoidal surgery and therefore started on adrenolytic therapy. Ketoconazole was not tolerated due to liver dysfunction. He tried metyrapone, but it was not tolerated. Because he maintained elevated serum cortisol levels he underwent bilateral adrenalectomy at age 6. Post-surgical 0900 h cortisol levels were compatible with a cure of his CD. Hydrocortisone and fludrocortisone treatment was started following surgery. He maintained regular clinical and MRI surveillance. Four years after surgery, the patient showed significant skin hyperpigmentation and elevated plasma ACTH (>1250 pg/ml), compatible with Nelsons syndrome. Pituitary MRI performed at this time showed a pituitary microadenoma located at the stalk, more evident than in previous studies. After discussion with Neurosurgery and review of therapeutic options, a conservative approach was decided, with close radiological and clinical follow up, since hypophysectomy or radiotherapy would likely compromise pituitary function. The patient is now 19 years-old and maintains remission of Cushings signs and symptoms. He shows neither symptoms of visual field loss nor compressive symptoms suggestive of a growing pituitary neoplasm. Pituitary microadenoma remains stable and hes now scheduled for a pituitary surgery.
Conclusion: The authors present a case of Nelsons Syndrome after bilateral adrenalectomy performed for CD. Transsphenoidal hypophysectomy is the treatment of choice in patients with CD but it frequently causes hypopituitarism and may not be effective in microadenomas. Because of this, treatment of children with CD may be challenging, once the aim is to cure hypercortisolism and to preserve pituitary function, in order not to compromise their normal development.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology