January/February 2010 - Volume 20 - Issue 1 - pp 13-14
Dhanwal, Dinesh Kumar DM; Tandon, Nikhil PhD; Tandon, Radhika MS; Chumber, Sunil MS; Ammini, Ariachery C. DM
We describe a 13-year-old boy who presented with growth retardation, Cushingoid habitus and proximal myopathy. Biochemically, he had elevated basal plasma cortisol levels which did not suppress after low and high dose dexamethasone suppression.
In addition, he had a thyroid nodule, mucosal neuromas over lips and tongue and thickened corneal nerves. The histology of the thyroid lesion was consistent with medullary thyroid carcinoma. Immunohistochemical staining was strongly positive for calcitonin but negative for ACTH. Following surgery for the thyroid tumor, plasma cortisol levels returned to normal and suppressed after an overnight dexamethasone suppression test.
This patient had multiple endocrine neoplasia (MEN) 2B with ectopic Cushing syndrome from medullary thyroid carcinoma. To our knowledge, this is the first case of ectopic Cushing syndrome presenting in a child with MEN 2B syndrome reported in English literature.