Malabsorption

Question 1

Malabsorption

Answer 1

Disorders affecting the digestion or absorption of nutrients manifest as:

• abnormal stools
• failure to thrive or poor growth in most but not all cases
• specific nutrient deficiencies, either singly or in combination.

Question 2

Malabsorption

Coeliac disease

Answer 2

Coeliac disease:

• A gluten-sensitive enteropathy
• Classical presentation is at 8–24 months with abnormal stools, failure to thrive, abdominal distension, muscle wasting and irritability
• Other modes of presentation – short stature, anaemia, screening, e.g. children with diabetes mellitus
• Diagnosis – positive serology (IgA tissue transglutaminase and endomysial antibodies), flat mucosa on jejunal biopsy and resolution of symptoms and catch-up growth upon gluten withdrawal
• Treatment – gluten-free diet for life.

Question 3

Inflammatory bowel disease

Crohn disease

Answer 3

Lethargy and general ill health without gastrointestinal symptoms can be the presenting features, particularly in older children. There may be considerable delay in diagnosis as it may be mistaken for psychological problems. It may also mimic anorexia nervosa. The presence of raised inflammatory markers (platelet count, ESR and CRP), iron deficiency anaemia and low serum albumin are helpful in both making a diagnosis and confirming a relapse.

Question 4

Toddler diarrhoea

Chronic diarrhoea

• In an infant with failure to thrive, consider coeliac disease and cow’s milk protein allergy
• Following gastroenteritis, consider post-gastroenteritis syndrome and associated temporary lactose intolerance
• Following bowel resection, cholestatic liver disease or exocrine pancreatic dysfunction, consider malabsorption
• In an otherwise well toddler with undigested vegetables in the stool, consider toddler diarrhoea.

Answer 4

• commonest cause of persistent loose stools in preschool children. Characteristically, the stools are of varying consistency, sometimes well formed, sometimes explosive and loose
• Toddler diarrhoea probably results from an underlying maturational delay in intestinal motility which leads to intestinal hurry.
• The loose stools are not due to malabsorption.
• Most children have grown out of their symptoms by 5 years of age but achieving faecal continence may be significantly delayed.

Question 5

Other causes of nutrient malabsorption

Ulcerative colitis

Answer 5

• recurrent, inflammatory and ulcerating disease involving the mucosa of the colon.
• disease presents with rectal bleeding, diarrhoea and colicky pain. Weight loss and growth failure may occur, although this is less frequent than in Crohn disease
• Severe fulminating disease is a medical emergency and requires treatment with intravenous fluids and steroids. If this fails to induce remission, ciclosporin may be used

Question 6

Constipation

‘Red Flag’ symptoms or signs in the child with constipation

‘Red Flag’ symptom/signsDiagnostic concern

1. Failure to pass meconium within 24 h of life: Hirschsprung disease

2. Failure to thrive/growth failure: Hypothyroidism, coeliac disease, other causes

3. Gross abdominal distension : Hirschsprung disease or other gastro dysmo

4. Abnormal lower limb neurology or deformity,

e.g. talipes or secondary urinary incontinence: Lumbosacral pathology

5. Sacral dimple above natal cleft, over the spine

• naevus, hairy patch, central pit, or*
• discoloured skin Spina bifida occulta*

6. Abnormal appearance/position/patency of anus Abnormal anorectal anatomy

7. Perianal bruising or multiple fissures Sexual abuse

8. Perianal fistulae, abscesses or fissures Perianal Crohn disease

Answer 6

• The cause of constipation is often unclear and multifactorial. In babies, Hirschsprung disease, anorectal abnormalities, hypothyroidism and hypercalcaemia need to be considered.
• Constipation may be precipitated by dehydration or reduced fluid intake or an anal fissure causing pain.
• In older children, it may relate to problems with toilet training, unpleasant toilets or stress.

Question 7

Constipation

Constipation management algorithm

Answer 7

Hirschsprung disease

• Absence of myenteric plexuses of rectum and variable distance of colon
• Presentation – usually intestinal obstruction in the newborn period following delay in passing meconium. In later childhood – profound chronic constipation, abdominal distension and growth failure
• Diagnosis – suction rectal biopsy.