Clinical PaperIdentification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy

Background/PurposeGastrointestinal symptoms are very common in patients with multiple endocrine neoplasia type 2B (MEN2B) syndrome. Herein, we present a case of intestinal ganglioneuromatosis (IGN) in MEN2B syndrome and a systematic literature review with a special focus on gastrointestinal symptoms prior to the diagnosis of MEN2B.MethodsLiterature search was performed (years 1966-2015) using the “Pubmed” and “Scopus” databases. Search terms used were gastrointestinal, intestinal and MEN2B.ResultsLiterature search revealed 188 publications on MEN2B patients with gastrointestinal symptoms, providing a total of 55 patients including our own case. The far most common gastrointestinal symptom was constipation (72.7%). The onset of gastrointestinal symptoms occurred in 29 out of 55 cases (52.3%) below the age of 1 year. However, MEN2B diagnosis was established at a median age of 13.0 years (range 0-46 years). The histological finding of IGN led to the diagnosis of MEN2B In 15 of 55 patients (27.3%) at a median age of 3 years (range 0-31 years).ConclusionPaying close attention to gastrointestinal problems in early childhood and taking a rectal biopsy that precisely screens for IGN offers the chance of diagnosing MEN2B syndrome early in infancy.