Independent Case ReportAn association of multiple endocrine neoplasia 2B, a RET mutation; constipation; and low substance P–nerve fiber density in colonic circular muscle
Section snippets
Methods
A retrospective review of the patient notes of the 3 children was undertaken. All 3 children are regularly reviewed in clinic by JMH.
Patient 1
An 11-month-old female infant of nonconsanguineous parents presented with a history of constipation since birth. There was infrequent stooling while breast-feeding and stooling every 2 to 3 weeks while fed solids. Laxatives were commenced at the age of 7 months but were found to be decreasingly effective, resulting in the commencement of a regular enema plan. A rectal biopsy for acetylcholinesterase staining at 2 years of age revealed submucosal ganglia but no changes consistent with
Discussion
We have described 3 children with MEN 2B in whom constipation was a presenting feature. The diagnosis was initially made after the presenting symptoms of constipation and genetic analysis revealed the most common mutation, a missense mutation at codon 918 in the RET gene (Met918Thr) on chromosome 10 in all 3 children. Each child, despite diffuse enlarged ganglia that displayed SP immunoreactivity, demonstrated a low level of SP-labeled nerve fibers in the colonic circular muscle. It is
Acknowledgments
The authors thank Mrs P Farmer (Royal Children's Hospital, Melbourne, Victoria, Australia) for preparation of immunohistochemistry images, Dr CW Chow (Royal Children's Hospital, Melbourne, Victoria, Australia) for examination of the pathologic specimens, and Dr M Smith (Royal Melbourne Hospital, Melbourne, Victoria, Australia) for advice on mutational analyses. Mutational analyses were performed at The Royal North Shore Hospital, Sydney, and The Royal Melbourne Hospital, Melbourne, Australia.
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Presented at the 52nd Annual Congress of British Association of Paediatric Surgeons, Dublin, Ireland, July 12-15, 2005.