Article Text
Case report
Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment
Abstract
Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. Mutation analysis of exon 16 of the RETproto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite no obvious thyroid masses and normal calcitonin concentrations, but microscopic multifocal medullary carcinoma was found on histological examination. Early recognition of intestinal ganglioneuromatosis with germlineRET M918T mutation in pseudo-Hirschsprung’s disease is an indication for prophylactic thyroidectomy.
- intestinal ganglioneuromatosis
- RET
- MEN 2B
- thyroidectomy
Abbreviations used in this paper
- IND
- intestinal neuronal dysplasia
- MEN
- multiple endocrine neoplasia
- NGF
- nerve growth factor
- MTC
- medullary thyroid carcinoma
- ERK
- extracellular signal related kinases