title: Identification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.affiliation: Department of Pediatric Surgery and Pediatric Urology, Goethe University Hospital, Frankfurt, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Gfroerer
authors.affiliation: Department of Pediatric Surgery and Pediatric Urology, Goethe University Hospital, Frankfurt, Germany.
authors.forename: Till-Martin
authors.initials: TM
authors.lastname: Theilen
authors.affiliation: Department of Pediatric Surgery and Pediatric Urology, Goethe University Hospital, Frankfurt, Germany.
authors.forename: Henning
authors.initials: H
authors.lastname: Fiegel
authors.affiliation: Edinger Institute, Neurological Institute, Goethe University Hospital, Frankfurt, Germany.
authors.forename: Patrick N
authors.initials: PN
authors.lastname: Harter
authors.affiliation: Edinger Institute, Neurological Institute, Goethe University Hospital, Frankfurt, Germany.
authors.forename: Michel
authors.initials: M
authors.lastname: Mittelbronn
authors.affiliation: Department of Pediatric Surgery and Pediatric Urology, Goethe University Hospital, Frankfurt, Germany. Electronic address: udo.rolle@kgu.de.
authors.forename: Udo
authors.initials: U
authors.lastname: Rolle
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003248:Constipation; D055088:Early Detection of Cancer; D005260:Female; D005729:Ganglioneuroma / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007414:Intestinal Neoplasms / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis*; D055815:Young Adult
keywords: Children; Diagnosis; Intestinal ganglioneuromatosis; MEN2B