Severe diarrhea in a neonate or infant may be due to a common or rare inherited disorder.
Common causes of diarrhea:
(1) infection
(2) toxic exposure
(3) food allergy
Features of hereditary forms:
(1) family history
(2) early onset and persistent
(3) persistent despite bowel rest
Rare Causes of Intractable Diarrhea
Features
Tricho-Hepato-Enteric (THE) syndrome (syndromic or phenotypic diarrhea)
facial dysmorphism, hair abnormalities
microvilllous atrophy (MVA), microvillous inclusion disease (MVID)
small bowel biopsy (PAS-positive granules, microvillous atrophy, abnormal enterocytes)
intestinal epithelial dysplasia (tufting enteropathy)
small bowel biopsy (disorganized surface enteroxytes with focal crowding that resembles tufts
congenital chloride diarrhea (CLD)
watery diarrhea with high chloride content
congenital sodium diarrhea (CSD)
watery diarrhea with high sodium and bicarbonate
glucose-galactose malabsorption (GGM)
ceases if glucose, galactose and lactose are removed from diet
autoimmune or immune-related enteropathy
may respond to immunosuppression or steroid therapy
mitochondria-related disorders
where:
• Diarrhea in a family could be due to a hereditary cause, or shared exposure to infection or toxin.
To read more or access our algorithms and calculators, please log in or register.
Specialty: Gastroenterology
