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.
Specialty: Gastroenterology
