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

Background/Purpose Gastrointestinal 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. Methods Literature search was performed (years 1966–2015) using the “Pubmed” and “Scopus” databases. Search terms used were gastrointestinal, intestinal and MEN2B. Results Literature 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). Conclusion Paying 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.