Malabsorptive congenital diarrhea by dysgenesis of enteroendocrine cells 

(DIAR4, enteric adenoendocrinosis)

Prevalence < 1/106. Autosomal recessive transmission of a mutation of gene NEUROG3 on 10q21.3. This mutation results in a deficiency in neurogenin-3 and so in dysgenesis of the entero-endocrine cells. Very severe diarrhea that appears from the first days of life and results in metabolic acidosis with hyperchloremia. It improves when the small bowell is put at rest..


Anesthetic implications:

check hydration and electrolytes; side-effects of parenteral nutrition: vascular thrombosis, repeated sepsis, liver involvement.


References : 


Updated: October 2016