Stefan Gfroerer1, Till-Martin Theilen1, Henning Fiegel1, Patrick N Harter2, Michel Mittelbronn2, Udo Rolle3. 1. Department of Pediatric Surgery and Pediatric Urology, Goethe University Hospital, Frankfurt, Germany. 2. Edinger Institute, Neurological Institute, Goethe University Hospital, Frankfurt, Germany. 3. Department of Pediatric Surgery and Pediatric Urology, Goethe University Hospital, Frankfurt, Germany. Electronic address: udo.rolle@kgu.de.
Abstract
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 1year. However, MEN2B diagnosis was established at a median age of 13.0years (range 0-46years). The histological finding of IGN led to the diagnosis of MEN2B In 15 of 55 patients (27.3%) at a median age of 3years (range 0-31years). 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.
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 MEN2Bpatients 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 1year. However, MEN2B diagnosis was established at a median age of 13.0years (range 0-46years). The histological finding of IGN led to the diagnosis of MEN2B In 15 of 55 patients (27.3%) at a median age of 3years (range 0-31years). 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.
Authors: Medard F M van den Broek; Ester B G Rijks; Peter G J Nikkels; Victorien M Wolters; Robert J J van Es; Hanneke M van Santen; Bernadette P M van Nesselrooij; Menno R Vriens; Rachel S van Leeuwaarde; Gerlof D Valk; Annemarie A Verrijn Stuart Journal: Endocrine Date: 2021-01-21 Impact factor: 3.633