GASTRO SHORT

Question 1

When is a haematological exam appropriate follow on to a gastrointestinal stem?

Answer 1

• Associated splenomegaly (haemolytic disorders such as HS, G6PD, thalassaemia)
• Suspected malignancy (leukaemia)

Question 2

When is a neurological exam appropriate follow on to a gastrointestinal stem?

Answer 2

• Jaundice or liver disease in a child over 5 years (to Ix Wilson disease, secondary vitamin E def causing ataxia/neuropathy)
• Malabsorption disease such as coeliac/IBD/short gut (vit E def causing ataxia/neuropathy, B vit deficiency causing peripheral neuropathy)
• Microcephaly or developmental delay with liver disease (TORCH infections)

Question 3

When is a respiratory exam appropriate follow on to a gastrointestinal stem?

Answer 3

• Liver disease with cough or evidence of diabetes/insulin injections (CF)

Question 4

When is a cardiac exam appropriate follow on to a gastrointestinal stem?

Answer 4

• Infant with jaundice or hepatomegaly (Alagille, for peripheral PS)
• Abdominal heterotaxy

Question 5

Differential for infants with jaundice and hepatomegaly?

Answer 5

Biliary atresia
Alpha-1-antitrypsin deficiency
Alagille (intrahepatic bile duct paucity)
Infection - TORCH/E Coli UTI
Choledochal cyst (can be jaundiced or not)
Hereditary fructose intolerance

Question 6

Differentials for infants with hepatomegaly without jaundice?

Answer 6

Hepatic tumours
Choledochal cyst
Haemangiomas

Question 7

Differentials for pre-school children with hepatomegaly and jaundice?

Answer 7

Hereditary fructose intolerance
Alpha-1-antitryspin deficiency
CF
Chronic active hepatits
Choledochal cyst

Question 8

Differentials for pre-school children with hepatomegaly without jaundice?

Answer 8

Infection - hepatitis, EBV, CMV, toxo
Metabolic - GSDs
Choledochal cyst, tumours, congenial hepatic fibrosis

Question 9

Age group where liver disease is seen clinically in Wilson’s?

Answer 9

Not until primary/high school
Can present as haemolytic jaundice or psychiatric/behavioural problems
Neurological problems rare, but if present Kayser-Fleischer rings expected to be present

Question 10

Differentials for hepatosplenomegaly?

Answer 10

Congenital hepatic fibrosis
Haematological: thalassaemia
Infection: EBV, TORCH
Malignancy: Leukaemia
Portal HTN 
Storage diseases

Question 11

Signs of portal hypertension?

Answer 11

Ascites
Splenomegaly
Varices
Distended abdominal veins/caput medusae

Question 12

Investigations for liver disease in a baby

Answer 12

Stool - inspection ?acholic
LFTs - hepatocellular/cholestatic, albumin, bilirubin
FBE, film - haematological causes/haemolysis
Coags - synthetic function
TFTs - hypothyroidism
Hepatitis/EBV/CMV/TORCH serology
Urine metabolic screen
CF sweat test
CXR - heterotaxy syndrome, butterfly vertebrae in Alagille
Liver US - echogenicity eg cirrhotic change, structure/mass, gallbladder
Nuclear med scan ?BA

Question 13

Investigations for liver disease in a child?

Answer 13

LFTs - hepatocellular/cholestatic, albumin, bilirubin
FBE, film - haematological causes/haemolysis
Coags - synthetic function
Autoimmune hepatitis screen
Copper level (Wilson)
Hepatitis/EBV/CMV/TORCH serology
Liver US - echogenicity eg cirrhotic change, structure/mass, gallbladder
Slit lamp exam for KF rings

Question 14

Exam findings for Vit A deficiency

Answer 14

Night blindness
Dry skin
Abnormal dental enamel

Question 15

Exam findings for Vit D deficiency?

Answer 15

Delayed suture closure/frontal bossing
Pigeon chest/Harrison sulcus/rachitic rosary
Widened epiphysis at wrist

Question 16

Exam findings for Vit E deficiency?

Answer 16

Haemolytic anaemia - splenomegaly/jaundice

Peripheral neuropathy/cerebellar ataxia

Question 17

Exam findings for Vit K deficiency?

Answer 17

Bleeding/bruising

Question 18

Exam findings for Vit C deficiency?

Answer 18

Bleeding gums
Poor wound healing
Long bone tenderness