Gastroenterology

Question 1

A 6-week-old female infant is brought to the clinic by her parents due to persistent jaundice. She was born at term with no complications. Her parents also mention pale stools and dark urine. The infant is feeding well, but she seems slightly irritable. Possible diagnosis?

Answer 1

Biliary atresia

Question 2

What is biliary atresia?

Answer 2

Biliary atresia = congenital condition - where the bile duct is narrowed or absent → results in cholestasis

The obstruction prevents the bile from being transported to the intestine → resulting in acccumulation of bile in the liver

Conjugated bilirubin = excreted in the bile → therefore biliary atresia prevents the excretion of conjugated bilirubin

Question 3

Presentation of biliary atresia

Answer 3

• Biliary atresia = presents shortly after birth with significant jaundice due to high conjugated bilirubin levels.
• Suspect biliary atresia in babies with a PERSISTENT JAUNDICE, lasting more than 14 days in term babies and 21 days in premature babies

Signs:
* Persistent jaundice
* Pale stools
* Dark urine
* Hepatomegaly
* Failure to thrive
* Abdominal distension
* Signs of portal hypertension (if severe)
* Scleral icterus

Symptoms:
* Irritability

Question 4

Investigations for biliary atresia

Answer 4

• LFTs (show cholestatic picture → high conjugated bilirubin, GGT and ALP)
• Abdominal ultrasound (show absence or abnormality of the gallbladder and bile duct)
• Intraoperative cholangiogram: injection of contrast into the biliary tree during surgery can definitively confirm the diagnosis using X-ray images to identify narrowed bile ducts

Question 5

Why is conjugated bilirubin high in biliary atresia?

Answer 5

A high proportion of conjugated bilirubin = suggests the liver is processing the bilirubin for excretion (by conjugating it) - but it is not able to excrete the conjugated bilirubin because it cannot flow through the biliary duct into the bowel.

Question 6

Info: Jaundice in neonates

Answer 6

There are many causes of jaundice in the neonate. The majority of cases are benign (e.g. breast milk jaundice), however more serious causes such as biliary atresia need to be excluded by measuring the conjugated bilirubin level.

Question 7

Management of biliary atresia

Answer 7

First line:
* Kasai portoenterostomy (Kasai procedure)
(Attaching a section of the small intestine to the opening of the liver, where the bile duct normally attaches. This is somewhat successful and can clear the jaundice and prolong survival. Often patients require a full liver transplant to resolve the condition)
* Ursoeoxycholic acid (given postopertaively to promote bile flow)

Second line: Liver transplant

Question 8

Complications of biliary atresia

Answer 8

• Cholangitis (post-operative complication)
• Cirrhosis + liver failure
• Nutritional deficiencies (due to malabsorption of fat-soluble vitamins)

Question 9

A 6-week-old, previously healthy, male infant presents with a 2-week history of frequent, intense crying spells that last up to 3 hours. These episodes occur mostly in the late afternoon and evening, without any obvious trigger. The mother reports the baby’s abdomen seems tense during these episodes and he often passes gas. Possible diagnosis?

Answer 9

Infant colic

Question 10

What is colic?

Answer 10

Infant colic is excessive infant crying with no obvious trigger. Colic should be suspected if a baby cries more than 3 hours a day, 3 days a week for more than 3 weeks but are otherwise healthy. This is known as “the rule of 3’s”.

Question 11

Clinical features of infant colic

Answer 11

Signs:
* Healthy appearance despite distress
* Tense abdomen
* Normal growth and development

Symptoms:
* Excessive crying: rule of 3’s, difficult to soothe, arched back with knees up to their tummy, red face and clenched fists
* Fussiness: more in the evening
* Flatulence

Question 12

Investigations for infant colic

Answer 12

NONE

No investigations are typically necessary for a baby who is feeding well, growing normally, and has a normal physical examination.

Investigations to consider:
* Growth chart assessment: to ensure the baby is growing and developing normally
* Parental interview: detailed questioning about feeding, bowel habits, and parental coping strategies to rule out other causes of distress
* Physical examination: this is essential to confirm the baby’s overall health and rule out other causes of discomfort

Question 13

Management of infant colic

Answer 13

• Reassurance
• Simethicone (Infacol): help some infants by breaking down gas bubbles in the gut, although its efficacy is unproven
• Feeding changes: If the baby is bottle-fed, a trial of hypoallergenic formula could be considered. If breastfed, mothers may be advised to avoid cow’s milk, caffeine, and spicy foods

Question 14

Complications for infant colic

Answer 14

• Family stress
• Parental exhaustion
• Increased risk of non-accidental injury: due to frustration or desperation, such as shaken baby syndrome
• Potential disruption to infant-parent bonding.