Chronic Diarrhoea

Question 1

Infant
Chronic diarrhoea
Causes

Answer 1

Post infectious lactase deficiency 
Cows milk, soy protein intolerance 
Coeliac
Cystic fibrosis 
AIDS enteropathy 
Rare :

Primary immune deficiency 
Familial villous atrophy 
Secretory tumours 
Congenital chloroidorrhoea
Lymphangectasia 
Abetalipoproteinemia
Eosinophilic GE
Short bowel 
Autoimmune enteropathy 
Acrodermatitis enteropathy

Question 2

Child
Chronic diarrhoea
Causes

Answer 2

Toddlers 
Post infectious lactase def
IBS
Coeliac 
Lactose intolerant 
Giardiasis
IBD
AIDS enteropathy 
Rare: 

Immune defect
Secretory tumours
Pseudo obstruction

Question 3

Adolescent
Chronic diarrhoea
Causes

Answer 3

IBD
IBS
Lactose intolerant 
Giardiasis 
Laxative abuse
Rare

Secretory tumours
Primary bowel tumour
Gay bowel disease

Question 4

Schwachmann diamond

Triad

Answer 4

Exocrine pancreatic insufficiency
(2nd most common after CF)
Metaphyseal dysostosis
Haemolytic abnormally: cyclical neutropenia, pan cytopenia

Question 5

Schwachmann Diamond

Onset pancreatic insufficiency

Complications

Answer 5

7-9 months: steatorrhoea, diarrhoea, abdo distension, FTT

Pyogenic infections
Lymphoreticular tumours (5% cases)

Question 6

Congenital pan cytopenia

4 syndromes

Answer 6

Schwachmann Diamond

Fanconi anaemia

Dyskeratosis congenita

Dubowitz syndrome

Question 7

B12 as cofactor three important reactions

Answer 7

Methylmalonic acid to succinyl CoA

Homocysteine to methionine

5-methyltetrahydrofolate to tetrahydrofolate
(DNA synthesis, RBC production)

Question 8

Blepharophimosis

Answer 8

Bilateral ptosis, reduced lid size

Question 9

Hereditary pancreatitis

Inheritance
Ch same as ….

Features

Answer 9

AD with variable expression

Ch 7q (same as CF)

Mild sx 1st decade

Longterm
Calcification
Pseudocysts
Pancreatic insufficiency

Question 10

Syndromes associated with pancreatic insufficiency

Answer 10

Schwachmann Diamond

Pearson
Macrocytic anaemia
Thrombocytopenia
Pancreatic insufficiency: growth failure