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  • Surgical Pathology Criteria

    Enteroendocrine Cell Dysgenesis

    Definition

    • Congenital diarrhea syndrome associated with loss of intestinal endocrine cells

    Alternate/Historical Names

    • Enteric anendocrinosis

    Diagnostic Criteria

    • Congenital diarrhea associated with feeding
      • Stops if oral feeding discontinued
      • Normal water absorption
    • Essentially normal histology
      • No villus atrophy or inflammation
      • Endocrine cells markedly depleted
        • Small intestine very rare (0-4/50 hpf)
          • Normal 145/50 hpf
        • Colon decreased (0-4/50 hpf)
          • Normal 85/50 hpf
        • Chromogranin stain may be fainter than normal in the few positive cells identified
        • Stomach retains normal endocrine cell numbers
      • All other cell types normal

    Robert V Rouse MD
    Department of Pathology
    Stanford University School of Medicine
    Stanford CA 94305-5342

    Original posting : November 11, 2009

    Differential Diagnosis

    Enteroendocrine Cell Dysgenesis Microvillus Inclusion Disease
    Normal villi Severe villus atrophy
    Intestinal endocrine cells markedly decreased or absent Normal intestinal endocrine cells
    Normal enterocyte cytoplasm PASd positive apical cytoplasmic inclusions (microlumena)
    Normal brush border Loss of brush border

    Markedly decreased or absent endocrine cells

    Endocrine cells present

    Both present with neonatal diarrhea and lack significant inflammation

     

    Enteroendocrine Cell Dysgenesis Tufting Enteropathy
    Normal villi Variable villus atrophy
    No enterocyte disorder or tufting Surface epithelial crowding and tufting at villus tips
    Markedly decreased or absent endocrine cells Endocrine cells present
    Both present with neonatal diarrhea and lack significant inflammation

     

    Enteroendocrine Cell Dysgenesis Abetalipoproteinemia
    Normal enterocyte cytoplasm Foamy cytoplasm filled with fat vacuoles
    Both present with neonatal diarrhea, essentially normal villus length and lack significant inflammation

     

    Enteroendocrine Cell Dysgenesis Autoimmune Polyglandular Syndrome Type 1
    Congenital onset Childhood or older onset
    Unremitting diarrhea following feeding Transient diarrhea
    No associated abnormalities Multiple endocrine organ failure, ectodermal dystrophy
    Both have essentially normal histology, without villus atrophy and decreased endocrine cells may be seen in both

     

    Enteroendocrine Cell Dysgenesis Autoimmune Enteropathy
    Normal villi Partial to complete villus atrophy
    No inflammation Increased lamina propria and intraepithelial lymphocytes
    Normal goblet cells Goblet cells may be lost
    Congenital May present after neonatal period
    Responds to total parenteral nutrition Does not respond to parenteral feeding
    Endocrine cells may be depleted in autoimmune enteropathy

    Clinical

    • Congenital intractable diarrhea
    • Associated with oral feeding of any type
    • Stops with cessation of oral feeding
      • Water is absorbed normally
    • Leads to marked growth retardation
    • Appears to be autosomal recessive
      • Germline mutations of NEUROG3
    • Rare
      • Most patients to date appear to be of Mexican origin

    Bibliography

    • Cortina G, Smart CN, Farmer DG, Bhuta S, Treem WR, Hill ID, Martín MG. Enteroendocrine cell dysgenesis and malabsorption, a histopathologic and immunohistochemical characterization. Hum Pathol. 2007 Apr;38(4):570-80.
    Printed from Surgical Pathology Criteria: http://surgpathcriteria.stanford.edu/
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