Paediatric GI disorders diagnosis

2/3 Question 1-3 of 45
Theme: Paediatric gastrointestinal disorders
A. Duodenal atresia
B. Hypertrophy of the pyloric sphincter
C. Budd Chiari Syndrome
D. Intussceception
E. Oesophageal atresia
F. Congenital diaphragmatic hernia
G. Cystic fibrosis
H. Intestinal malrotation
I. Gastroenteritis
Please select the most likely diagnosis for the scenario given. Each option may be used once, more than once or not at all.
1. A two week old child is brought to the emergency department by his parents. He was slow to establish on feeds but
was discharged home three days following delivery. During the past 7 hours he has been vomiting and the vomit is
largely bile stained. On examination he has a soft, scaphoid abdomen.
You answered Duodenal atresia
The correct answer is Intestinal malrotation
Theme from April 2013 Exam

The combination of scaphoid abdomen and bilious vomiting is highly suggestive of intestinal malrotation and
volvulus. An urgent upper GI contrast study and ultrasound is required.
2. A 4 week old baby is developing well and develops profuse and projectile vomiting after feeds. He has been losing
weight and the vomit is described as being non bilious.
Hypertrophy of the pyloric sphincter
A history of projective vomiting and weight loss is a common story suggestive of pyloric stenosis. The vomit is often
not bile stained. Diagnosis is further suggested by hyperchloraemic metabolic alkalosis and a palpable tumour on test
feeding.
3. A 1 day old child is born by emergency cesarean section for foetal distress. On examination he has decreased air entry
on the left side of his chest and a displaced apex beat. Abdominal examination demonstrates a scaphoid abdomen but
is otherwise unremarkable.
Congenital diaphragmatic hernia
Displaced apex beat and decreased air entry are suggestive of diaphragmatic hernia. The abdomen may well be
scaphoid in some cases. The underlying lung may be hypoplastic and this correlates directly with prognosis.
Paediatric Gastrointestinal disorders
Pyloric stenosis • M>F

• 5-10% Family history in parents
• Projectile non bile stained vomiting at 4-6 weeks of life
• Diagnosis is made by test feed or USS
• Treatment: Ramstedt pyloromyotomy (open or laparoscopic)
Acute appendicitis • Uncommon under 3 years

• When occurs may present atypically
Mesenteric adenitis • Central abdominal pain and URTI

• Conservative management
Intussusception • Telescoping bowel

• Proximal to or at the level of, ileocaecal valve
• 6-9 months age
• Colicky pain, diarrhoea and vomiting, sausage shaped mass, red jelly stool.
• Treatment: reduction with air insufflation
Malrotation • High caecum at the midline

• Feature in exomphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia
• May be complicated by development of volvulus, infant with volvulus may have bile stained
vomiting
- Diagnosis is made by upper GI contrast study and USS

- Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a ladds procedure
is performed
Hirschsprung's • Absence of ganglion cells from myenteric and submucosal plexuses
disease • Occurs in 1/5000 births
• Full thickness rectal biopsy for diagnosis
• Delayed passage of meconium and abdominal distension
• Treatment is with rectal washouts initially, thereafter an anorectal pull thorugh procedure
Oesophageal atresia • Associated with tracheo-oesophageal fistula and polyhydramnios

• May present with chocking and cyanotic spells following aspiration
• VACTERL associations
Meconium ileus • Usually delayed passage of meconium and abdominal distension

• Majority have cystic fibrosis
• X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge
meconium plugs and be therapeutic
• Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to
remove the plugs
Biliary atresia • Jaundice > 14 days

• Increased conjugated bilirubin
• Urgent Kasai procedure
Necrotising • Prematurity is the main risk factor

enterocolitis • Early features include abdominal distension and passage of bloody stools
• X-Rays may show pneumatosis intestinalis and evidence of free air
• Increased risk when empirical antibiotics are given to infants beyond 5 days
• Treatment is with total gut rest and TPN, babies with perforations will require laparotomy
Question 4 of 45
A 2-day-old baby girl is noted to become cyanotic whilst feeding and crying. A diagnosis of congenital heart disease is
suspected. What is the most likely cause?
A. Transposition of the great arteries
B. Coarctation of the aorta
C. Patent ductus arteriosus
D. Tetralogy of Fallot
E. Ventricular septal defect
Congenital heart disease
• cyanotic: TGA most common at birth, Fallot's

most common overall
• acyanotic: VSD most common cause
Theme from April 2011 exam
For Surgeons it is important to be aware of common congenital cardiac abnormalities. The main differentiating factor is
whether the patient is cyanotic or acyanotic. The key point to this question is that whilst tetralogy of Fallot is more common
than transposition of the great arteries (TGA), Fallot's doesn't usually present until 1-2 months following the identification of a
murmur or cyanosis. In the neonate, TGA is the most common presenting cause of cyanotic congenital heart disease
The other 3 options are causes of acyanotic congenital heart disease
Congenital heart disease
Acyanotic - most common causes
• Ventricular septal defects (VSD) - most common, accounts for 30%

• Atrial septal defect (ASD)
• Patent ductus arteriosus (PDA)
• Coarctation of the aorta
• Aortic valve stenosis
VSDs are more common than ASDs. However, in adult patients ASDs are the more common new diagnosis as they generally
presents later
Cyanotic - most common causes
• Tetralogy of Fallot
• Transposition of the great arteries (TGA)
• Tricuspid atresia
• Pulmonary valve stenosis
Fallot's is more common than TGA. However, at birth TGA is the more common lesion as patients with Fallot's generally
presenting at around 1-2 months
Question 5 of 45
A 6 month old boy is brought to the clinic by his mother. She is concerned that his testes are not located into the scrotum. She
has noticed them only when he is in the bath, but not at any other time. What is the most likely underlying diagnosis?
A. Rectractile testis
B. Ectopic testis
C. Undescended testis
D. Testicular agenesis
E. Intersex child
Theme from April 2012 Exam

A testis that appears in warm conditions or which can be brought down on clinical examination and does not immediately
retract is usually a retractile testis.
Cryptorchidism
A congenital undescended testis is one that has failed to reach the bottom of the scrotum by 3 months of age. At birth up to 5%
of boys will have an undescended testis, post natal descent occurs in most and by 3 months the incidence of cryptorchidism falls
to 1-2%. In the vast majority of cases the cause of the maldescent is unknown. A proportion may be associated with other
congenital defects including:
Patent processus vaginalis

Abnormal epididymis
Cerebral palsy
Mental retardation
Wilms tumour
Abdominal wall defects (e.g. gastroschisis, prune belly syndrome)
Differential diagnosis
These include retractile testes and, in the case of absent bilateral testes the possibility of intersex conditions. A retractile testis
can be brought into the scrotum by the clinician and when released remains in the scrotum. If the examining clinician notes the
testis to return rapidly into the inguinal canal when released then surgery is probably indicated.
Reasons for correction of cryptorchidism
• Reduce risk of infertility

• Allows the testes to be examined for testicular cancer
• Avoid testicular torsion
• Cosmetic appearance
Males with undescended testis are 40 times as likely to develop testicular cancer (seminoma) as males without undescended
testis
The location of the undescended testis affects the relative risk of testicular cancer (50% intra-abdominal testes)
Treatment
• Orchidopexy at 6- 18 months of age. The operation usually consists of inguinal exploration, mobilisation of the testis
and implantation into a dartos pouch.
• Intra-abdominal testis should be evaluated laparoscopically and mobilised. Whether this is a single stage or two stage
procedure depends upon the exact location.
• After the age of 2 years in untreated individuals the Sertoli cells will degrade and those presenting late in teenage years
may be better served by orchidectomy than to try and salvage a non functioning testis with an increased risk of
malignancy.
Question 6 of 45
Which of the following statements relating to omphalocele is false?
A. The herniated organs lie outside the peritoneal sac
B. Cardiac abnormalities co-exist in 25%
C. Intestines are almost always malrotated
D. The defect occurs through the umbilicus
E. Mortality may be as high as 15%
Gastroschisis: Isolated abnormality, bowel lies outside abdominal wall through defect located to right of umbilicus.
Exomphalos: Liver and gut remain covered with membranous sac connected to umbilical cord. It is associated with other
developmental defects.
They are contained within the peritoneal sac and therefore do not have the fluid losses seen in gastroschisis. Because the
intestines are not located in a intra abdominal location, a degree of intestinal malrotation is almost inevitable. However, this
aspect does not always result in a requirement for surgery.




• 6-9 months age

vomiting

- Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a ladds procedure
is performed


• X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge
meconium plugs and be therapeutic
remove the plugs



Theme: Bilious vomiting in neonates
A. Biliary atresia
B. Intestinal malrotation
C. Ileal atresia
D. Necrotising enterocolitis
E. Duodenal atresia
F. Meconium ileus
G. Viral gastroenteritis
H. Pyloric stenosis
Please select the most likely underlying cause of bilious vomiting for the situation described. Each option may be used once,
more than once or not at all.
7. A male infant is born prematurely at 26 weeks gestation by emergency cesarean section. Following the birth he
develops respiratory distress syndrome and is ventilated. He begins to improve twelve days after birth. Then he
becomes unwell and develops abdominal distension and passes bloody stools and vomits a small quantity of bile
stained vomit.
Necrotising enterocolitis
Necrotising enterocolitis often has a delayed presentation and affected infants will typically pass bloody stools. Plain
films may show air in the intestinal wall (Pneumatosis).
8. A male infant is born by spontaneous vaginal delivery at 39 weeks gestation. He is well after the birth, established on
bottle feeding and discharged home. His parents are concerned because he subsequently becomes unwell and vomits a
large quantity of bile stained vomit approximately 2 days after discharge home. On examination he looks ill and his
abdomen is soft and non distended.
Intestinal malrotation
Intestinal malrotation with volvulus will typically compromise the vascularisation and lumenal patency of the gut.
This will cause bilious vomiting and the vascular insufficiency will produce a clinical picture of illness at odds with
the lack of overt abdominal signs. Delay in diagnosis and surgery will result in established necrosis, perforation and
peritonitis.
9. A female infant is born by cesarean section at 38 weeks gestation for foetal distress. The attending paediatricians
notice that she has a single palmar crease and an anti mongoloid slant to her eyes. Soon after the birth the mother tries
to feed the child who has a projectile vomit about 10 minutes after feeding. On examination she has a soft, non
distended abdomen.
Duodenal atresia
Proximally sited atresia will produce high volume vomits which may or may not be bile stained. Abdominal
distension is characteristically absent. Whilst under resuscitated children may be a little dehydrated they are seldom
severely ill. The presence of Trisomy 21 (palmar and eye signs) increases the likelihood of duodenal atresia.
Bilious vomiting in neonates
Causes of intestinal obstruction with bilious vomiting in neonates

Disorder Incidence and Age at presentation Diagnosis Treatment
causation
Duodenal 1 in 5000 (higher in Few hours after birth AXR shows "double Duodenoduodenostomy
atresia Downs syndrome) bubble sign, contrast
study may confirm
Malrotation Usually cause by Usually 3-7 days after Upper GI contrast study Ladd's procedure
with volvulus incomplete rotation birth, volvulus with may show DJ flexure is
during embryogenesis compromised circulation more medially placed,
may result in peritoneal USS may show
signs and haemodynamic abnormal orientation of
instability SMA and SMV
Jejunal/ ileal Usually caused by Usually within 24 hours of AXR will show air-fluid Laparotomy with primary resection
atresia vascular insufficiency birth levels and anastomosis
in utero, usually 1 in
3000
Meconium Occurs in between 15 Typically in first 24-48 Air - fluid levels on Surgical decompression, serosal
ileus and20% of those hours of life with AXR, sweat test to damage may require segmental
babies with cystic abdominal distension and confirm cystic fibrosis resection
fibrosis, otherwise 1 bilious vomiting
in 5000
Necrotising Up to 2.4 per 1000 Usually second week of Dilated bowel loops on Conservative and supportive for
enterocolitis births, risks increased life AXR, pneumatosis and non perforated cases, laparotomy
in prematurity and portal venous air and resection in cases of
inter-current illness perforation of ongoing clinical
deterioration
10-12 1/3
A. Meconium ileus
B. Biliary atresia
C. Oesophageal atresia
D. Pyloric stenosis
E. Intussusception
F. Malrotation
G. Hirschsprung disease
H. Mesenteric adenitis.
What is the most likely diagnosis for each scenario given? Each option may be used once, more than once or not at all.
10. A 3 day old baby presents with recurrent episodes of choking and cyanotic episodes. There is a history of
polyhydramnios.
Oesophageal atresia
Diagnosis is confirmed when an nasogastric tube fails to reach the stomach.
11. A 3 day old neonate is developing increasing problems with feeding. On examination she has a pan systolic murmur and
her forearms have not developed properly.
You answered Pyloric stenosis
The correct answer is Oesophageal atresia
This child has VACTERL, which is a combination of Vertebral, Ano-rectal, Cardiac, Tracheo-oesophageal, Renal and
Radial limb anomalies. Half of babies with oesophageal atresia will have VACTERL.
12. A 2 year old child has central abdominal pain. He has had a recent upper respiratory tract infection.
You answered Intussusception
The correct answer is Mesenteric adenitis.
Mesenteric adenitis may complicate upper respiratory tract infection and clinical exclusion of appendicitis can be
difficult.
13-15 3 / 3
Theme: Neonatal gastrointestinal disease
A. Ano-rectal atresia
B. Pyloric stenosis
C. Hirschbrungs disease
D. Duodenal atresia
E. Meconium ileus
F. Intussusception
G. Necrotising enterocolitis
H. Intestinal volvulus
I. Tracheo-oesophageal fistula
Please select the most likely diagnosis to account for the case described. Each option may be used once, more than once or not
at all.
13. A newborn baby boy presents with mild abdominal distension and failure to pass meconium after 24 hours. X- Ray
reveals dilated loops of bowel with fluid levels. The anus appears normally located.
Hirschbrungs disease
Hirschsprung's disease is an absence of ganglion cells in the neural plexus of the intestinal wall. It is more common in
boys than girls. The delayed passage of meconium together with distension of abdomen is the usual clinical presentation.
A plain abdominal x ray will demonstrate dilated loops of bowel with fluid levels and a barium enema can be helpful
when it demonstrates a cone with dilated ganglionic proximal colon and the distal aganglionic bowel failing to distend.
14. A premature infant (30-week gestation) presents with distended and tense abdomen. She is passing blood and mucus per
rectum, and she is also manifesting signs of sepsis.
Necrotising enterocolitis
Necrotising enterocolitis is more common in premature infants. Mesenteric ischemia causes bacterial invasion of the
mucosa leading to sepsis. Terminal ileum, caecum and the distal colon are commonly affected. The abdomen is
distended and tense, and the infant passes blood and mucus per rectum. X -Ray of the abdomen shows distended loops of
intestine and gas bubbles may be seen in the bowel wall.
15. A newborn baby boy presents with gross abdominal distension. He is diagnosed with cystic fibrosis and his abdominal x
ray shows distended coils of small bowel, but no fluid levels.
Meconium ileus
One in 15,000 newborns will have a distal small bowel obstruction secondary to abnormal bulky and viscid meconium.
Ninety percent of these infants will have cystic fibrosis and the abnormal meconium is the result of deficient intestinal
secretions. This condition presents during the first days of life with gross abdominal distension and bilious vomiting. x
Ray of the abdomen shows distended coils of bowel and typical mottled ground glass appearance. Fluid levels are scarce
as the meconium is viscid.
Question 1 of 30 Next
Which of the following statements relating to biliary atresia is untrue?
A. It most commonly presents as prolonged conjugated jaundice in the neonatal

period.
B. Evidence of portal hypertension at diagnosis is seldom present in the UK.

C. It may be confused with Alagille syndrome.
D. The Kasai procedure is best performed in the first 8 weeks of life.
E. Survival following a successful Kasai procedure is approximately 45% at 5

years.
Next question
Alagille syndrome autosomal dominant disorder characterised by presence of paucity of bile ducts and cardiac defects. Only the
embryonic form of biliary atresia is associated with cardiac and other embryological defects.
Biliary atresia usually presents with obstructed jaundice. A Kasai procedure is best performed in the first 8 weeks of life. If a
Kasai procedure is successful most patients will not require liver transplantation. 45% of patients post Kasai procedure will
require transplantation. However, overall survival following a successful Kasai procedure is 80%.
Biliary atresia
• 1 in 17000 affected
• Biliary tree lumen is obliterated by an inflammatory cholangiopathy causing progressive liver damage
Clinical features
• Infant well in 1st few weeks of life

• No family history of liver disease
• Jaundice in infants > 14 days in term infants (>21 days in pre term infants)
• Pale stool, yellow urine (colourless in babies)
• Associated with cardiac malformations, polysplenia, situs inversus
Investigation
• Conjugated bilirubin (prolonged physiological jaundice or breast milk jaundice will cause a rise in unconjugated
bilirubin, whereas those with obstructive liver disease will have a rise in conjugated bilirubin)
• Ultrasound of the liver (excludes extrahepatic causes, in biliary atresia infant may have tiny or invisible gallbladder)
• Hepato-iminodiacetic acid radionuclide scan (good uptake but no excretion usually seen)
Management
• Early recognition is important to prevent liver transplantation.

• Nutritional support.
• Roux-en-Y portojejunostomy (Kasai procedure).
• If Kasai procedure fails or late recognition, a liver transplant becomes the only option.
Previous 1 / 3 Question 2-4 of 30 Next

Theme: Administration of intravenous fluids
A. 0.9% Saline
B. 5% Dextrose
C. 20% Glucose
D. 0.18% saline/ 4% glucose
E. 0.45% saline/ 15% glucose
F. 0.45% saline/ 2.5% glucose
G. 4.5% albumin
H. 10% Pentastarch
I. 10% Dextrose
For the scenario given please select the most appropriate type of intravenous fluid for the scenario given. Each option may be
used once, more than once or not at all.
2. A 4 year old boy is undergoing an elective orchidopexy.
0.9% Saline
Isotonic fluids should be used in this setting and 0.9% saline is the safest option.
3. A 2 day old boy is recovering from an inguinal herniotomy he has yet to feed and the nursing staff would like a
prescription for an initial fluid to be given on return to the ward. His potassium is within normal limits.
You answered 0.18% saline/ 4% glucose
The correct answer is 10% Dextrose
Neonates require 10% dextrose solutions as they are at risk of developing hypoglycaemia.
4. A 4 year boy with learning difficulties has developed swallowing problems and is awaiting a PEG tube. He required
maintenance IV fluids and the nursing staff require choice of fluid for the next bag. He has just been given 250ml of 0.9%
saline.
You answered 0.45% saline/ 2.5% glucose
The correct answer is 5% Dextrose
5% Dextrose would the routine choice for water replacement.
Next question
Paediatric fluid management

Since 2000 there have been at least 4 reported deaths from fluid induced hyponatraemia in children. This led to the National
Patient Safety Agency introducing revised guidelines in 2007.
Indications for IV fluids include:
• Resuscitation and circulatory support

• Replacing on-going fluid losses
• Maintenance fluids for children for whom oral fluids are not appropriate
• Correction of electrolyte disturbances
Fluids to be avoided
Outside the neonatal period saline / glucose solutions should not be given. The greatest risk is with saline 0.18 / glucose 4%
solutions. The report states that 0.45% saline / 5% glucose may be used. But preference should be given to isotonic solutions
and few indications exist for this solution either.
Fluids to be used
• 0.9% saline
• 5% glucose (though only with saline for maintenance and not to replace losses)
• Hartmans solution
Potassium should be added to maintenance fluids according patients plasma potassium levels (which should be monitored).
Intraoperative fluid management

Neonates should receive glucose during surgery.
Other children should receive isotonic crystalloid.
Maintenance fluids
Weight Water requirement/kg/day Na mmol/kg/day K mmol/kg/day
First 10Kg body weight 100ml 2-4 1.5-2.5
Second 10Kg body weight 50ml 1-2 0.5-1.5
Subsequent Kg 20ml 0.5-1.0 0.2-0.7
Glucose will need to be given to neonates- usually 10% at a rate of 60ml/Kg/day.
Reference
NPSA -reducing risk of hyponatraemia when administering intravenous fluids to children. Issue date March 2007. Further
references included in this document.
Previous Question 5 of 30 Next

A 3 day old baby develops dyspneoa. A chest x-ray is performed and shows a radio-opaque shadow with an air-fluid level in the
chest. It is located immediately anterior to the 6th hemivertebra. Which of the following is the most likely underlying diagnosis?
A. Bronchogenic cyst
B. Congenital diaphragmatic hernia
C. Infection with Staphylococcus aureus
D. Oesphageal duplication cyst
E. Hiatus hernia
Next question
A midline cystic mass of an infant in this age group is most likely to be a bronchogenic cyst. Hiatus hernia is unusual in the
neonatal period. Oesophageal duplication cysts are very rare and respiratory symptoms are less common than with
bronchogenic cysts.
Bronchogenic cysts
Overview
Bronchogenic cysts most commonly arise as a result of anomalous development of the ventral foregut. They are most
commonly single, although multiple cysts are described.
They often lie near the midline and most frequently occur in the region of the carina. They may be attached to the
tracheobronchial tree, although they are seldom in direct connection with it.
Cases may be asymptomatic or present with respiratory symptoms early in the neonatal period.
They are the second most common type of foregut cysts (after enterogenous cysts) in the middle mediastinum. Up to 50% of
cases are diagnosed prior to 15 years of age.
Investigation
Many cases are diagnosed on antenatal ultrasound. Others may be detected on conventional chest radiography as a midline
spherical mass or cystic structure. Once the diagnosis is suspected a CT scan should be performed.
Treatment
Thorascopic resection is the ideal treatment. Very young babies can be operated on once they reach six weeks of age.

Theme: Paediatric umbilical disorders
A. Omphalitis
B. Umbilical hernia
C. Umbilical granuloma
D. Paraumbilical hernia
E. Persistent vitello-intestinal duct
F. Persistent urachus
Please select the most likely underlying disorder for the umbilical condition described. Each option may be used once, more
than once or not at all.
6. A 2 week old baby is referred to the surgical team by the paediatricians. They are concerned because the child has a
painful area of macerated tissue at the site of the umbilicus. On examination a clear- yellowish fluid is seen to be
draining from the umbilicus when the baby cries.
You answered Persistent vitello-intestinal duct
The correct answer is Persistent urachus
A patent urachus will present with umbilical urinary discharge. The skin may become macerated if not properly
cared for. The discharge is most likely to be present when intra-abdominal pressure is raised. It is associated with
posterior urethral valves.
7. A premature neonate is born by emergency cesarean section at 29 weeks gestation. He initially seems to be
progressing well. However, the team are concerned because he becomes systemically septic and on examination has
a swollen and erythematous umbilicus.
Omphalitis
Infection from omphalitis may spread rapidly and cause severe sepsis especially in immunologically compromised,
premature neonates.
8. A baby boy is born by elective cesarean section at 39 weeks gestation. He initially seems to progress well and is
discharged from hospital the following day. The parents bring the child to the clinic at 10 days of age and are
concerned at the presence of a profuse and foul smelling discharge at the site of the umbilicus. On examination the
umbilicus has some prominent granulation tissue. When the baby cries a small trickle of brownish fluid is seen to
pass from the umbilicus.
You answered Umbilical granuloma
The correct answer is Persistent vitello-intestinal duct
A persistent vitello-intestinal duct may allow the persistent and ongoing discharge of small bowel content from the
umbilicus. This fluid may be very irritant to the surrounding skin.
Previou
Question 9 of 30 Next
s
Which one of the following is least associated with Tetralogy of Fallot?
A. Right ventricular outflow tract obstruction
B. Overriding aorta
C. Pan systolic murmur
D. Left-to-right shunt
E. Right ventricular hypertrophy
Next question
Right-to-left shunting is characteristic of Fallot's. In some patients there can be bidirectional shunting (if there is mild
pulmonary stenosis) and a few patients can even have pink tetralogy when there is a predominant shunt from left to right due to
minimal infundibular stenosis.
Tetralogy of Fallot
Tetralogy of Fallot (TOF) is the most common cause of cyanotic congenital heart disease*. It typically presents at around 1-2
months, although may not be picked up until the baby is 6 months old
The four characteristic features are:
• ventricular septal defect (VSD)

• right ventricular hypertrophy
• right ventricular outflow tract obstruction, pulmonary stenosis
• overriding aorta
The severity of the right ventricular outflow tract obstruction determines the degree of cyanosis and clinical severity
Other features
• cyanosis
• causes a right-to-left shunt
• ejection systolic murmur due to pulmonary stenosis (the VSD doesn't usually cause a murmur)
• a right-sided aortic arch is seen in 25% of patients
• chest x-ray shows a 'boot-shaped' heart, ECG shows right ventricular hypertrophy
Management
• surgical repair is often undertaken in two parts

• cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm
*however, at birth transposition of the great arteries is the more common lesion as patients with TOF generally present at
around 1-2 months

A 3 year old boy is brought to the clinic with symptoms of urinary hesitancy and poor stream. Which of the following is the
most likely underlying diagnosis?
A. Benign prostatic hypertrophy
B. Posterior urethral valves
C. Neurogenic bladder
D. Urethral calculus
E. Hypospadias
Next question
Posterior urethral valves are one of the commonest causes of poor urinary stream and hesitancy in children. Prostatic disorders
are rare.
Hypospadias is associated with urine that is difficult to control, but should not produce hesitancy.
Urethral valves
Posterior urethral valves are the commonest cause of infravesical outflow obstruction in males. They may be diagnosed on ante
natal ultrasonography. Because the bladder has to develop high emptying pressures in utero the child may develop renal
parenchymal damage. This translates to renal impairment noted in 70% of boys at presentation. Treatment is with bladder
catheterisation. Endoscopic valvotomy is the definitive treatment of choice with cystoscopic and renal follow up.

Which of the following is not a feature of oesphageal atresia in neonates?
A. High incidence of polyhydramnios
B. Risk of recurrence in subsequent pregnancies of 80%
C. Distal tracheoesphageal fistula is the commonest variant
D. High incidence of associated imperforate anus
E. Absence of gastric bubble on antenatal ultrasound
Next question
Most are sporadic and risk in subsequent pregnancies is not increased.




• 6-9 months age

vomiting

- Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a ladds
procedure is performed



• X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may
dislodge meconium plugs and be therapeutic
remove the plugs


A 12 day old infant is brought to the emergency department by his anxious mother who notices that he has developed a right
sided groin swelling. On examination the testes are correctly located but it is evident that the child has a right sided inguinal
hernia. It is soft and easily reduced. What is the most appropriate management?
A. Surgery over the next few days
B. Reassure and discharge
C. Surgery at 1 year of age
D. Surgery once the child is 6 months old
E. Application of a hernia truss
Next question
Inguinal hernia in infants = Urgent surgery
The high incidence of strangulation necessitates an urgent herniotomy be performed. In infants with a reducible hernia this can
be performed on a daycase list during the same week. Deferring surgery on the basis of age is not justified.
Paediatric inguinal hernia
Inguinal hernias are a common disorder in children. They are commoner in males as the testis migrates from its location on the
posterior abdominal wall, down through the inguinal canal. A patent processus vaginalis may persist and be the site of
subsequent hernia development.
Children presenting in the first few months of life are at the highest risk of strangulation and the hernia should be repaired
urgently. Children over 1 year of age are at lower risk and surgery may be performed electively. For paediatric hernias a
herniotomy without implantation of mesh is sufficient. Most cases are performed as day cases, neonates and premature infants
are kept in hospital overnight as there is a recognised increased risk of post operative apnoea.
A. Meckel diverticulum
B. Pyloric stenosis
C. Acute appendicitis
D. Mesenteric adenitis
E. Intussusception
F. Malrotation
G. Hirschsprung disease
What is the most likely diagnosis for each scenario given? Each option may be used once, more than once or not at all.
13. A 48 hour old neonate develops increasing abdominal distension. He had a normal delivery but has yet to pass any
meconium. Following digital rectal examination liquid stool is released.
Hirschsprung disease
Hirschsprungs may present either with features of bowel obstruction in the neonatal period or more insidiously
during childhood. After the PR there may be an improvement in symptoms. Diagnosis is by full thickness rectal
biopsy.
14. A 7 month old girl presents with vomiting and diarrhoea. She is crying and drawing her legs up. There is a a
sausage shaped mass in the abdomen.
Intussusception
Sausage shaped mass (colon shaped) is common in intussusception. The other common sign is red jelly stool.
15. A 1 month old baby girl presents with bile stained vomiting. She has an exomphalos and a congenital
diaphragmatic hernia.
You answered Acute appendicitis
The correct answer is Malrotation
Exomphalos and diaphragmatic herniae are commonly associated with malrotation.
Previou
3/3 Question 16-18 of 30 Next
s
A. Liver transplant
B. Air insufflation
C. Roux-en-Y portojejunostomy
D. Ramstedt pyloromyotomy
E. Appendicectomy
F. Administration of antibiotics
G. Distal gastrectomy
What is the best management option for these children? Each option may be used once, more than once or not at all.
16. A 2 year old child has central abdominal pain. He has had a recent upper respiratory tract infection. On examination he is
febrile and has a soft abdomen with some paraumbilical tenderness.
Administration of antibiotics
This child has mesenteric adenitis. Symptoms should resolve. Should they fail to do so then appendicectomy will be
required as it can present insidiously in this age group.
17. A 2 month old baby presents with jaundice. He has an elevated conjugated bilirubin level. Diagnosis is confirmed by
cholangiography during surgery.
Roux-en-Y portojejunostomy
This child has biliary atresia. The aim is to avoid liver transplantation (however, most will come to transplant in time).
18. A 6 week old baby boy presents with non bile stained projectile vomiting. He is otherwise developmentally normal. His
abdomen is soft and non tender.
Ramstedt pyloromyotomy
This baby has pyloric stenosis and the treatment of choice is a Ramstedt pyloromyotomy.

A 6 year old child develops ballooning of the foreskin on micturition and is brought to the clinic by his anxious mother. One
examination the foreskin is non retractile but otherwise normal. By which age are 95% of all foreskins retractile
A. 2 years
B. 16 years
C. 8 years
D. 5 years
E. 10 years
Next question
By 16 years of age almost all foreskins should be retractile and if they are not circumcision should be considered at around this
time.
Paediatric urology- foreskin disorders
Disorders of the foreskin

At birth and in the neonatal period the normal foreskin is non retractile due to the presence of adhesions between the foreskin
and glans. In most cases these will separate spontaneously. By the end of puberty 95% of foreskins can be retracted. In some
children the non-retractile foreskin may balloon during micturition. This is a normal variant and requires no specific treatment.
Balanitis This is inflammation of the glans penis. It may occur in both circumcised and non-circumcised
individuals.
Posthitis This is inflammation of the foreskin. It may occur as a result of infections such as gonorrhoea and other
STD's. It may also complicate diabetes. Posthitis may progress to phimosis and as this may make
cleaning of the glans difficult allow progression to balanoposthitis.
Paraphimosis Prolonged retraction of the foreskin proximal to the glans may allow oedema to occur. This may then
make foreskin manipulation difficult. It can usually be managed by compression to reduce the oedema
and replacement of the foreskin. Where this fails a dorsal slit may be required and this followed by
delayed circumcision.
Phimosis This is inability to retract the foreskin and may be partial or complete. It may occur secondary to
balanoposthitis or balanitis xerotica obliterans. Depending upon the severity and symptoms treatment
with circumcision may be required.
Balanitis xerotica This is a dermatological condition in which scarring of the foreskin occurs leading to phimosis. It is rare
obliterans below the age of 5 years. Treatment is usually with circumcision.

An 18 month old boy is brought to the emergency room by his parents. He was found in bed with a nappy filled with dark red
blood. He is haemodynamically unstable and requires a blood transfusion. Prior to this episode he was well with no prior
medical history. What is the most likely cause?
A. Necrotising enterocolitis
B. Anal fissure
C. Oesophageal varices
D. Meckels diverticulum
E. Crohns disease
Next question
Meckels diverticulum is the number one cause of painless massive GI bleeding requiring a transfusion in children between the
ages of 1 and 2 years.
Other causes of GI bleeding include:
Site Newborn 1 month to 1 year 1 to 2 years Older than 2 years
Upper GI Haemorrhagic disease, Oesophagitis/ gastritis Peptic ulcer disease Varices

tract swallowed maternal blood
Lower GI Anal fissure/ NEC Anal fissure/ Polyps / Meckels IBD/ Polyps/
tract Intussusception diverticulum Intussusception
Meckel's diverticulum
• Congenital abnormality resulting in incomplete obliteration of the vitello-intestinal duct

• Normally, in the foetus, there is an attachment between the vitello-intestinal duct and the yolk sac.This disappears at 6
weeks gestation.
• The tip is free in majority of cases.
• Associated with enterocystomas, umbilical sinuses, and omphaloileal fistulas.
• Arterial supply: omphalomesenteric artery.
• 2% of population, 2 inches long, 2 feet from the ileocaecal valve.
• Typically lined by ileal mucosa but ectopic gastric mucosa can occur, with the risk of peptic ulceration. Pancreatic and
jejunal mucosa can also occur.
Clinical
• Normally asymptomatic and an incidental finding.

• Complications are the result of obstruction, ectopic tissue, or inflammation.
• Removal if narrow neck or symptomatic. Options are between wedge excision or formal small bowel resection and
anastomosis.

What is the investigation of choice to look for renal scarring in a child with vesicoureteric reflux?
A. Abdominal x-ray
B. Ultrasound
C. DMSA
D. CT KUB
E. Micturating cystourethrogram
Next question
Vesicoureteric reflux
Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney. It is relatively
common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI), being found in around
30% of children who present with a UTI. As around 35% of children develop renal scarring it is important to investigate for
VUR in children following a UTI
Pathophysiology of VUR
• ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle
• therefore shortened intramural course of ureter
• vesicoureteric junction cannot therefore function adequately
The table below summarises the grading of VUR
{Grade}
I Reflux into the ureter only, no dilatation
II Reflux into the renal pelvis on micturition, no dilatation
III Mild/moderate dilatation of the ureter, renal pelvis and calyces
IV Dilation of the renal pelvis and calyces with moderate ureteral tortuosity
V Gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity
Investigation
• VUR is normally diagnosed following a micturating cystourethrogram
• a DMSA scan may also be performed to look for renal scarring

Which of the following statements relating to necrotising enterocolitis is false?
A. It has a mortality of 30%
B. Most frequently presents in premature neonates less than 32 weeks gestation.
C. Should be managed by early laparotomy and segmental resections in most

cases.
D. Pneumostosis intestinalis may be visible on plain abdominal x-ray.
E. May be minimised by use of breast milk over formula feeds.
Next question
Most cases will settle with conservative management with NG decompression and appropriate support. Laparotomy should be
undertaken in patients who progress despite conservative management or in whom compelling indications for surgery exist (eg
free air).
• End and review

• Reference ranges
Question stats
A 10.8%
B 10.8%
C 17%
D 34.4%
E 27%
34.4% of users answered this question correctly
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A 6 week old baby boy is brought to the clinic by his mother. She is concerned because although the left testis is present in the
scrotum the right testis is absent. She reports that it is sometimes palpable when she bathes the child. on examination the right
testis is palpable at the level of the superficial inguinal ring. What is the most appropriate management?
A. Discharge
B. Re-assess in 5 years
C. Laparoscopy
D. Re-assess in 6 months
E. Orchidopexy
Next question
Undescended testes are not uncommon in young children. They may be present in 4% of term infants, but only in 1.3% children
at 3 months of age. In this scenario the testis is retractile and can be managed expectantly.
Cryptorchidism
A congenital undescended testis is one that has failed to reach the bottom of the scrotum by 3 months of age. At birth up to 5%
of boys will have an undescended testis, post natal descent occurs in most and by 3 months the incidence of cryptorchidism falls
to 1-2%. In the vast majority of cases the cause of the maldescent is unknown. A proportion may be associated with other
congenital defects including:
Patent processus vaginalis

Abnormal epididymis
Cerebral palsy
Mental retardation
Wilms tumour
Abdominal wall defects (e.g. gastroschisis, prune belly syndrome)
Differential diagnosis
These include retractile testes and, in the case of absent bilateral testes the possibility of intersex conditions. A retractile testis
can be brought into the scrotum by the clinician and when released remains in the scrotum. If the examining clinician notes the
testis to return rapidly into the inguinal canal when released then surgery is probably indicated.
Reasons for correction of cryptorchidism
• Reduce risk of infertility

• Allows the testes to be examined for testicular cancer
• Avoid testicular torsion
• Cosmetic appearance
Males with undescended testis are 40 times as likely to develop testicular cancer (seminoma) as males without undescended
testis
The location of the undescended testis affects the relative risk of testicular cancer (50% intra-abdominal testes)
Treatment
• Orchidopexy at 6- 18 months of age. The operation usually consists of inguinal exploration, mobilisation of the testis
and implantation into a dartos pouch.
• Intra-abdominal testis should be evaluated laparoscopically and mobilised. Whether this is a single stage or two stage
procedure depends upon the exact location.
• After the age of 2 years in untreated individuals the Sertoli cells will degrade and those presenting late in teenage years
may be better served by orchidectomy than to try and salvage a non functioning testis with an increased risk of
malignancy.

An 8 week old infant is brought to clinic with a history of 18 days of jaundice. The mother is breast feeding. He was a full term
baby. There is no family history of liver disease. What is the most appropriate next step?
A. Liver USS
B. Unconjugated bilirubin measurement
C. Conjugated bilirubin measurement
D. Reassure and discharge
E. ERCP
Next question
This baby is a full term and has > 14 days of jaundice, therefore needs an urgent conjugated bilirubin check to rule out biliary
atresia. If physiological jaundice the unconjugated bilirubin levels will be increased. Isotope scanning may be used in diagnosis,
but a definitive diagnosis is normally made during a laparotomy.
Biliary atresia
• 1 in 17000 affected
• Biliary tree lumen is obliterated by an inflammatory cholangiopathy causing progressive liver damage
Clinical features
• Infant well in 1st few weeks of life

• No family history of liver disease
• Jaundice in infants > 14 days in term infants (>21 days in pre term infants)
• Pale stool, yellow urine (colourless in babies)
• Associated with cardiac malformations, polysplenia, situs inversus
Investigation
• Conjugated bilirubin (prolonged physiological jaundice or breast milk jaundice will cause a rise in unconjugated
bilirubin, whereas those with obstructive liver disease will have a rise in conjugated bilirubin)
• Ultrasound of the liver (excludes extrahepatic causes, in biliary atresia infant may have tiny or invisible gallbladder)
• Hepato-iminodiacetic acid radionuclide scan (good uptake but no excretion usually seen)
Management
• Early recognition is important to prevent liver transplantation.

• Nutritional support.
• Roux-en-Y portojejunostomy (Kasai procedure).
• If Kasai procedure fails or late recognition, a liver transplant becomes the only option.
• Previous Question 25 of 30 Next

Which of the following statements relating to Hirschsprungs disease is false?
A. It is more common in males.
B. Is typically associated with a dilated aganglionic segment of bowel.
C. May present with delayed passage of meconium.

D. Mucosal biopsies are inadequate for diagnosis.
E. Disease extending beyond 30cm of colon and rectum is unusual.
Next question
There is a transition zone from the contracted aganglionic segment (the abnormal area) to dilated normal bowel on barium
enema. Males are more frequently affected than females. Surgery may involve a pull through procedure. A number of patients
will have ongoing evacuatory disturbance.
A 4 year old is admitted with right iliac fossa pain and is due to undergo an appendicectomy. The nursing staff would like to
give the child an infusion of intravenous fluid whilst waiting for theatre. Assuming electrolytes are normal, which of the
following is an appropriate fluid for infusion in this situation?
A. 10% Dextrose solution
B. 0.9% Saline solution
C. 0.45% saline/ 5% glucose solution
D. Gelofusin
E. None of the above
Next question
0.45% saline/ 5% glucose solutions carry a risk of hyponatraemia and is contra indicated- see below.

A. Appendicectomy
B. Active observation
C. Discharge
D. Ultrasound of the abdomen
E. Colonoscopy
F. Pneumatic reduction under fluoroscopic guidance
G. Laparotomy
Please select the most appropriate form of management from the list above. Each option may be used once, more than once or
not at all.
27. A 5 year old girl has been unwell for 3 days with occasional vomiting and lethargy, she had one episode of
diarrhoea. On examination she has a soft abdomen with tenderness in the region of the right iliac fossa. Her
temperature is 38.1. Urine dipstick shows leucocytes (+) and protein (+).
Appendicectomy
The most likely diagnosis is appendicitis. This can often present with less robust signs in paediatric than adult
practice.
28. A 6 day old baby was born prematurely at 33 weeks. He has been suffering from respiratory distress syndrome and
has been receiving ventilatory support on NICU. He has developed abdominal distension and is increasingly septic.
Ultrasound of the abdomen shows free fluid and evidence of small bowel dilatation. His blood pressure has
remained labile despite inotropic support
You answered Active observation
The correct answer is Laparotomy
He has necrotising enterocolitis and whilst this is often initially managed medically a laparotomy is required if the
situation deteriorates.
29. A 5 year old child has been unwell with a sore throat and fever for several days. He progresses to develop
periumbilical abdominal discomfort and passes diarrhoea. This becomes blood stained. The paediatricians call you
because the ultrasound has shown a 'target sign'.
Pneumatic reduction under fluoroscopic guidance
This child has an intussusception. The lymphadenopathy will have initiated it. A target sign is seen on ultrasound
and is the side on view of multiple layers of bowel wall. Reduction using fluoroscopy with air is the usual first line
management. Ileo-colic intussceceptions are generally most reliably reduced using this method, long ileo-ileal
intussceceptions usually result in surgery.
Previou
Question 30 of 30
s
A 4 year old boy presents with symptoms of dysuria and urinary frequency. A urine dipstick is positive for blood and nitrites. A
UTI is suspected. Which of the following follow up strategies is most appropriate?
A. Watchful waiting
B. Cystoscopy
C. DMSA scan
D. CT scan of pelvis
E. Renal MRI
A first presentation of an uncomplicated UTI (even in male children) may be managed expectantly. More than 1 UTI in a six
month period should prompt further investigation.
Urinary tract infection- paediatric
• UTI's may occur in 5% of young girls and 1-2% males. The incidence is higher in premature infants.
• E-Coli accounts for 80% cases.
• In children with UTI it is important to establish whether there is underlying urinary stasis or vesico-ureteric reflux (or
both).
• Pyelonephritis in children carries the risk of renal scarring 10% and this translates into a 10% risk of developing end
stage renal disease.
Diagnosis
• Pyrexia lasting for more than 3 days mandates urine testing.

• Samples may be taken from mid-stream urine samples or supra pubic aspiration. Urine collected from nappies usually
have faecal contaminants. In samples showing mixed growth contamination of the sample has usually occurred.
• As in adults >105 colony forming units of a single organism are usually indicative of a UTI.
Management
• A single isolated UTI (in girls) may be managed expectantly.

• > 2 UTI's (or 1 in males) in a 6 month period should prompt further testing.
• Voiding cystourethrograms show the greatest anatomical detail and is the ideal first line test in males; isotope
cystography has a lower radiation dose and is the first line test in girls.
• USS should also be performed. Renal cortical scintigraphy should be performed when renal scarring is suspected.

Paediatric GI disorders diagnosis

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2/3 Question 1-3 of 45

Theme: Paediatric gastrointestinal disorders

You answered Duodenal atresia

The correct answer is Intestinal malrotation

Theme from April 2013 Exam

Hypertrophy of the pyloric sphincter

Congenital diaphragmatic hernia

Pyloric stenosis • M>F

Acute appendicitis • Uncommon under 3 years

Mesenteric adenitis • Central abdominal pain and URTI

Intussusception • Telescoping bowel

Malrotation • High caecum at the midline

- Diagnosis is made by upper GI contrast study and USS

Oesophageal atresia • Associated with tracheo-oesophageal fistula and polyhydramnios

Meconium ileus • Usually delayed passage of meconium and abdominal distension

Biliary atresia • Jaundice > 14 days

Necrotising • Prematurity is the main risk factor

A. Transposition of the great arteries

B. Coarctation of the aorta

C. Patent ductus arteriosus

E. Ventricular septal defect

Congenital heart disease

• cyanotic: TGA most common at birth, Fallot's

Theme from April 2011 exam

The other 3 options are causes of acyanotic congenital heart disease

Congenital heart disease

Acyanotic - most common causes

• Ventricular septal defects (VSD) - most common, accounts for 30%

Cyanotic - most common causes

Theme from April 2012 Exam

Patent processus vaginalis

Reasons for correction of cryptorchidism

• Reduce risk of infertility

A. The herniated organs lie outside the peritoneal sac

B. Cardiac abnormalities co-exist in 25%

C. Intestines are almost always malrotated

D. The defect occurs through the umbilicus

E. Mortality may be as high as 15%

Paediatric Gastrointestinal disorders

Pyloric stenosis • M>F

Acute appendicitis • Uncommon under 3 years

Mesenteric adenitis • Central abdominal pain and URTI

Intussusception • Telescoping bowel

Malrotation • High caecum at the midline

- Diagnosis is made by upper GI contrast study and USS

Oesophageal atresia • Associated with tracheo-oesophageal fistula and polyhydramnios

Meconium ileus • Usually delayed passage of meconium and abdominal distension

Biliary atresia • Jaundice > 14 days

Necrotising • Prematurity is the main risk factor

3/3 Question 7-9 of 45

Bilious vomiting in neonates

Causes of intestinal obstruction with bilious vomiting in neonates

Diagnosis is confirmed when an nasogastric tube fails to reach the stomach.

You answered Pyloric stenosis

The correct answer is Oesophageal atresia

You answered Intussusception

The correct answer is Mesenteric adenitis.

A. It most commonly presents as prolonged conjugated jaundice in the neonatal

B. Evidence of portal hypertension at diagnosis is seldom present in the UK.

D. The Kasai procedure is best performed in the first 8 weeks of life.

E. Survival following a successful Kasai procedure is approximately 45% at 5

• Infant well in 1st few weeks of life