Extremely Rare Cause of Congenital Diarrhea: Enteric Anendocrinosis

Pediatr Int. 2013 Oct;55(5):661-3. doi: 10.1111/ped.12169.


Congenital diarrheal disorders consist of a variety of chronic enteropathies. There are approximately 30 different diseases that can be classified into four groups according to the mechanisms involved in pathogenesis: (i) absorption and transport of nutrients and electrolytes; (ii) enterocyte differentiation and polarization; (iii) enteroendocrine cell differentiation; and (iv) modulation of the intestinal immune response. Affected patients often present with life-threatening diarrhea, in the first few weeks of life. A new disorder, enteric anendocrinosis, which is characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells has recently been described in six patients with recessively inherited mutations in the Neurogenin-3 gene. In this report we describe a seventh case with a review of the literature.

Keywords: Neurogenin-3; congenital diarrhea; enteric anendocrinosis; enteroendocrine cells.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Biopsy
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diarrhea / congenital*
  • Diarrhea / diagnosis
  • Diarrhea / genetics
  • Duodenum / pathology
  • Female
  • Frameshift Mutation*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Intestinal Mucosa / pathology*
  • Malabsorption Syndromes / diagnosis
  • Malabsorption Syndromes / genetics*
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Rare Diseases*


  • Basic Helix-Loop-Helix Transcription Factors
  • NEUROG3 protein, human
  • Nerve Tissue Proteins
  • DNA

Supplementary concepts

  • Diarrhea 4, Malabsorptive, Congenital