Cushing Syndrome is rare in childhood. Between 2 and 5 new cases per million people are diagnosed each year, of which only 10% are reported to occur within the paediatric population. There is a female predominance but a male predominance has been reported in infants. Classical clinical indicators of Cushing syndrome in childhood include central weight gain and growth failure. Other clinical manifestations include facial flushing, hypertension, hirsutism, pubertal delay, acne, striae and bruising. Compulsive overachieving behaviour is seen in about 40% of children and adolescents. Causes of Cushing syndrome include the exogenous administration of glucocorticoids and ACTH, pituitary adenomas (Cushing disease), adrenal tumours and very rarely ectopic ACTH production. It has been reported that ectopic ACTH production accounts for less than 1% of causes of Cushing Syndrome in adolescents. Tumours that secrete ACTH include small cell carcinoma of the lung, carcinoid tumours of the bronchus, thymus or pancreas, pheochromocytomas and neuroendocrine tumours, particularly that of the pancreas and gut. We report a rare case of a 3 year old child who presented with Cushings Syndrome secondary to ectopic ACTH production from a pancreatoblastoma. Pancreatoblastoma, a pancreatic neuroendocrine tumour known to produce ACTH is a very rare malignant tumour. It arises from multipotential stem cells and may bear resemblance to other embryonic neoplasms such as nephroblastoma and hepatoblastoma. These tumours usually occur in the first decade of life and there is a slight male predominance. An incidental mass is the most common form of presentation. The head and tail of the pancreas is the most common site of tumour occurrence while the liver is the most frequent site of metastatic disease. Complete surgical resection of the tumour is the treatment of choice. Chemotherapy maybe beneficial prior to surgery to reduce tumour size. Even though these tumours are curable, long-term surveillance for recurrence is mandatory. The clinical presentation, management and outcome of this rare tumour in a 3 year old child will be presented in this paper.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology