This document discusses various causes of congenital and chronic diarrhea in children. It defines diarrhea and describes different types including osmotic, secretory, and chronic nonspecific diarrhea. Specific conditions covered include glucose-galactose malabsorption, celiac disease, cystic fibrosis, tufting enteropathy, microvillus inclusion disease, congenital chloride diarrhea, intestinal lymphangiectasia, abetalipoproteinemia, and immunodeficiency-related diarrhea. The diagnostic approach and management strategies for each condition are summarized.

1. Congenital Diarrhea
By:
Dr. Inayat Ullah
PGY-III Paediatrics

2. Definition
Diarrhea
In children, a stool output that
exceeds 10 mL/kg/day is considered diarrhea.
A more practical definition
is that diarrhea is present when stools increase
in frequency, fluidity (water content), or volume,
in comparison with the previously
established “normal” pattern.
Congenital diarrheas present at birth or
shortly thereafter or may remain unrecognized.

3. Osmotic diarrhea
 MALABSORPTION OF WATER-SOLUBLE NUTRIENTS which pulls
water into bowel lumen.
 -Glucose-galactose malabsorption Congenital , Acquired
Disaccharidase deficiencies.
 Toddler’s diarrhea CNSDI
 Reduced absorptive surface area e.g. celiac disease
• stops with fasting, has a low pH, positive for reducing
substances

4. Secretory diarrhea
• Intestinal mucosa directly secretes fluid and
electrolytes into the stool and is the result of
inflammation
• e.g. IBD Tufting enteropathy
• Congenital Chloride and sodium diarrhea
• Most diarrheal illnesses are a mixture of
secretory and osmotic diarrheas.

6. Chronic Nonspecific Diarrhea (CNSD)
Background
• The most common form of persistent diarrhea
in the first 3 years after birth
• The typical time of onset may range from 1–3
years of age and can last from infancy until
age 5 years
• The role of ingested carbohydrates in CNSD
has been emphasized in light of a typical
toddler’s affection for fruit juices

7. Clinical Presentation
• May pass 4–10 loose bowel movements per
day without blood or mucus
• Specific to CNSD; these patients pass stools
only during waking hours – As the day
progresses, stools become more watery and
smaller in volume
• Undigested food remnants in the stool due
short transit time of enteral contents

8. Management (CNSDI)
• Reassurance is the cornerstone of therapy for
CNSD
• Parents should be reassured that their child is
growing well and is healthy
• Fruit juice intake should be minimized or changed
to types of juice with low sucrose and fructose
loads
• Increase fat to encourage normal caloric intake
and to slow intestinal transit time, not to restrict
fiber, and to assure adequate but not
overhydration

9. Diasaccharide Intolerance
Background
•Lactase deficiency is the most common type
Lactose intolerance
• Age of onset varies among populations
• African American children becoming lactose
intolerant before age 5 years
• White children typically do not lose lactase
function until after age 5 years
• Congenital lactase deficiency is a rare entity

10. Congenital Secretory Diarrhea
Congenital chloride diarrhea (CCD) and
Congenital sodium diarrhea (CSD)
• Both diseases present before birth with
polyhydramnios resulting from in utero
diarrhea
• May cause life-threatening dehydration and
electrolyte disturbances

11. Secretory Diarrheas
Congenital chloride diarrhea (CCD)
• Severe hypochloremia , hypokalemia and
hyponatremia Raised Renin aldosterone
• Metabolic alkalosis, Polyhydromnios
Fecal Cl > 90mmol/L
Severe life threatening diarrhea in 1st week of life.
Congenital sodium diarrhea (CSD)
• Hyponatremia with alkaline stools (Fecal pH>7.5)
• Metabolic acidosis, polyhydromnios

12. Secretory Diarrhea
• Diagnosis
• Stool electrolytes often aid in the diagnosis
• Genetic testing can identify defective chloride transport
genes in some patients with CCD
• Management
• Aggressive fluid and electrolyte replacement is the
mainstay of therapy for both diseases
• In CCD Early diagnosis replacement of KCl+NACl (Cl doses
of 6-8mmol/kg/day for infants and 3-4 for older children)
• Orally PPI, Cholystyramin and butyrate can reduce diarrhea
severity.

13. Tufting Enteropathy
Background
• Tufting enteropathy, also known as intestinal
epithelial dysplasia
Clinical presentation
• Presents in the first few months after birth
• Growth failure
• Intractable watery diarrhea
• Significant electrolyte abnormalities

14. Tufting Enteropathy (cont’d)
Diagnosis
• Histology of the small bowel reveals – Villous
atrophy and crypt hyperplasia without
significant inflammation – Closely packed
enterocytes appear to create focal epithelial
“tufts”

15. Tufting Enteropathy (cont’d)
Management
• Affected infants typically become dependent
on parenteral nutrition to allow normal
growth and development
• Small bowel transplant is potentially curative,
but the associated morbidity and mortality are
high

16. Microvillus Inclusion Disease
Background
• Rare cause of chronic Secretory diarrhea in the
neonatal period
Clinical presentation
• Diarrhea so watery that it may be mistaken for
urine
• Contrary to what occurs in CCD and CSD,
polyhydramnios typically is not seen

17. Microvillus Inclusion Disease
Diagnosis
• Small bowel villous atrophy but without
inflammation or expected crypt hyperplasia,
and “microvillous inclusions”
Management
• Aggressive intravenous rehydration and
electrolyte replacement are necessary to
maintain life during infancy
• Lifelong parenteral nutrition in most cases

18. Gluten-Sensitive Enteropathy (Celiac
disease)
Background
• Small intestine mucosal damage secondary to
exposure to specific dietary protein (wheat
products)
• Wheat products, e.g., Cereal grains that includes
wheat, rye, and barley
• Pure oats are not considered an offending agent
Associated diseases, e.g., • Diabetes mellitus type1
• Down syndrome • Williams syndrome • Turner
• Thyroiditis • Selective IgA deficiency

19. Clinical presentation Celiac Disease
• Diarrhea (the most common symptom) stool is pale, loose,
and offensive
• Abdominal distension
• FTT is less common
• Muscle wasting and loss of muscular power
• Hypotonia
• Dermatitis herpetiformis
• Dental enamel defects
• Short stature
• Delayed puberty
• Osteoporosis
• Persistent iron deficiency anemia

20. Diagnosis Celiac Disease
Anti-tissue transglutaminase antibody test is
most sensitive and specific diagnostic blood
test
• Anti-endomysial IgA antibodies
• The above two test can be falsely negative in
IgA deficiency
• Definitive diagnosis is small intestinal biopsy
showing flattening of the small intestinal
mucosa

21. algorithm

22. Management Celiac Disease
• Lifelong exclusion of gluten, no wheat, barley, or
rye in diet
• Follow-up with tissue transglutaminase level 6
months after withdrawal to document reduction
in antibodies
• Patients response very well to diet restriction
• Any small amount of gluten can cause mucosal
damage
• Follow-up with dietitian is very important
• Follow up the growth curve

23. Cystic fibrosis
•AR disorder.
•Most patients have respiratory symptoms as
recurrent pneumonia, and adenoid.
•Those patients have pancreatic insufficiency which
lead to diarrhea with greasy stool.
•Failure to thrive.
•Genetic diagnosis and sweat chloride test are the
main investgations.
•Management is Multidisciplinary.

24. Acrodermatitis enteropathicaa
•AR disorder.
•Presented with peri-oral rash, chronic diarrhea,
recurrent infection and napkin rash resistant to
treatment.
•Usually starts at the time of weaning.
•Tent red hair and alopecia.
•Diagnosis
•Serum Zinc in the blood are severely low
•Management
• Zinc supplementation.

25. Intestinal Lymphangiectasia
Background
• Obstruction of lymphatic drainage of the intestine
Associated condition
• Turner syndrome
• Noonan syndrome
• Klippel–Trenaunay
• Weber syndrome
• Heart failure

26. Intestinal Lymphangiectasia
Clinical presentation
• Protein losing enteropathy is the main cause of the
clinical manifestation of this disease
Diagnosis
• Presence of Alpha-1 antitrypsin in stool
• Direct measurement of alpha-1 antitrypsin clearance
from plasma
Management
• Replace long-chain fat with medium-chain Triglycerides
in diet or formula and treatment of the cause
Surgical resection if patchy intestinal involvement.

27. Abetalipoprotienemia
• AR
• Disorder of lipoprotien metabolism.
• Severe fat malabsorption, failure to thrive.
• Pale, foul smelling and bulky stools.
• Distended abdomen, absent DTR’s (Peripheral
Neuropathy)
• Slow IQ
• Ataxia, loss of position and vibration later on and
retinitis pigmentosa in adults without vit-E
supplements

28. Abetalipoprotienemia
• Diagnosis
• Acanthocytes in smear
• Serum cholestrol low (<50mg/dl)
TG(<20mg/dl), chylomicrons and VLDL not
detectable.
• TG accumulation in villous enterocytes in
duodenum
• Rickets secodary to steatorrhea induced Ca
losses

29. Abetalipoprotienemia
• Treatment
• Not specific
• Fat soluble vitamins supplements (A,D,E&K)
• Vitamin-E 100-200mg/kg/24 hours arrest
neurological and retinal degeneration.
• MCTs can be used to supplement fat intake.

30. Immunodeficiency States Associated with
Chronic Diarrhea
• Children with primary immunodeficiency
states often present with chronic diarrhea
• X-linked agammaglobulinemia may result in
diarrhea secondary to – Chronic rotaviral
infections – Recurrent giardiasis
• IgA deficiency may lead to – Recurrent
giardiasis – Bacterial overgrowth – Associated
with a 10- to 20-fold increased incidence of
celiac disease

31. Immunodeficiency States Associated with
Chronic Diarrhea
• Hyper-IgM syndrome – Chronic diarrhea
• Human immunodeficiency virus syndromes –
Cryptosporidium parvum
• Common variable immunodeficiency lead to –
Diarrhea – Significant malabsorption
• Neonatal insulin-dependent diabetes with
intractable diarrhea should raise suspicion for –
Syndrome of immune dysregulation –
Polyendocrinopathy – Enteropathy (autoimmune)

32. Approach
• History
• Onset
• Character and volume of stools
• Assoc symptoms e.g. blood, fever, & wt loss,
respiratory symptoms.
• Factors improving and worsening the diarrhea
• History of polyhydromnios
• Assoc with specific food,
• Family personal history
• Recurrent symptoms/Infections.

33. • Examination
• General + nutritional status MUAC, dehydration
• Caloric intake quantification
• Abd distension, tenderness, bowel sounds, blood
in stool, fecal mass, and anal sphincter tone
• Assoc symptoms asthma, eczema,
• Extra intestinal symptoms, arthritis, diabetes,
• Skin lesions
• Facial dysmorphism, hair changes.

34. Investigations
• Microbiology
• R/E for protozoa, virus, parasites and bacteria
• Fecal calprotectin, lactoferrin assay, celiac
serology
• Mucosal biopsy after GI consultation
• Imaging USG, X-Ray, Ba Meal VCE