ESPE Abstracts

McCune Albright Syndrome is a rare disease characterized by classic triad of polyostotic fibrous dysplasia, café-au-lait spots and endocrine dysfunction and out of them cushings syndrome is a fatal manifestation which might need bilateral adrenalectomy. We report a 6 months old baby who presented to Paediatric Endocrinology Unit due to elevated alkaline phosphatase levels while investigating for failure to thrive, hypotonia and global developmental delay. This child was born to non conasanguinous parents at POA of 36+5, weighing 1.78kg. Interestingly on examination he had irregular pigmentary patches in his body. He was cushinoid and had hirsutism. Systemic examination revealed tachycardia, hypertension and hepatosplenomegaly. Investigation results showed normal serum calcium 2.72mg/dl(2-2.2-2.7), low phosphate 0.87mg/dl(1.4-2.1), high ALP 553 U/L and deranged liver function tests with high ALT, AST and gamma GT. Overnight dexamethasone suppression test revealed unsuppressed serum cortisol of 750 nmol/l with normal ACTH 11.31 (4.7-48.8) confirming ACTH independent cushings syndrome. FT4 level was 24.95pmol/l which was high.X-ray right side humerus showed fibrous dysplasia and 2D echo revealed left ventricular hypertrophy. These clinical findings led us to the diagnosis of MAS with multiorgan involvement. Thyrotoxicosis was treated medically with carbimazole, propranolol and potassium iodide. With these FT4 level was kept within normal range.1 alpha calcidol and phosphate supplements were started for hypophosphatemic rickets. Hypertension was difficult to control even with three antihypertensives, prazocin, amlodipine and propanolol. After the multiprofessional meeting decision with Paediatric surgical team bilateral adrenalectomy was done after which baby was started on IV hydrocortisone infusion initially followed by oral hydrocortisone. Then he developed hyponatremia with hyperkalemia and fludrocotisone was started with oral 3% saline. He did not develop any hypoglycemic episodes in the post operative period. During the hospital stay he sustained a fracture in his left lower femur, which caused pain and needed analgesics with Orthopaedic intervention with casting. Unfortunately 2 weeks after the surgery he developed a severe lower respiratory tract infection complicated with sepsis and despite giving intensive care treatment baby succumbed to death. Cushing syndrome and thyrotoxicosis in infancy with MAS is challenging. Bilateral adrenalectomy would be helpful to ameliorate the hypercortisolism in cushings syndrome with liver derangement and to prevent life threatening sepsis. After bilateral adrenalectomy patient needs lifelong steroid therapy. However the option of undergoing surgical treatment itself is not without morbidity even with the best care.