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1-A three week old infant presented with jaundice. Which of the following may
explain this presentation?
Breastfeeding
Mucopolysaccharidosis
PKU
Hypothyroidism
von Willebrand's disease
30-50% of normal term neonates experience jaundice. Physiological and breast milk
jaundice (unconjugated hyperbilirubinaemia) account for the majority of cases in the
first weeks of life. Congenital hypothyroidism will cause prolongation of
physiological jaundice. T , F , F , T , F
1
Simple measures such as positioning are often sufficient to reduce gastro-
oesophageal reflux. Where these simple measures fail to reduce the gastro-
oesophageal reflux the use of prokinetic agents should be considered. In
patients with oesophagitis, H2 blocking or proton pump inhibitors seem to help
in the healing of oesophagitis. T , F , F , T , T
Anaemia
Stricture
Choking episodes
Wheeze
Psychological problems
In most children with reflux, the volume of milk that is lost with each regurgitation is
insignificant but, in some children, the intake is severely compromised and as a
consequence weight gain is poor. With the prolonged contact of gastric acid on the
oesophageal mucosa an oesophagitis may develop. This may present clinically as
blood in the vomit or more insidiously with the development of anaemia or stricture.
When considering the differential diagnosis for children with recurrent cough or
respiratory tract infections, one must include gastrooesophageal reflux. In children
with reflux there may also be longer-term behavioural sequelae, which can frequently
lead to major management problems. Some children are reluctant to eat, particularly
solids, and as a consequence feeding problems develop. T , T , T , T , T
Meconium plug
Hirschprung's disease
Crohn's disease
Hypercalcaemia
Overfeeding
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5-A 3-week-old girl presented with persistent vomiting. Which of the following is
a likely diagnosis?
Duodenal atresia
Infantile hypertrophic pyloric stenosis
Gastro-oesophageal reflux
Urinary tract infection
Oesophageal atresia
Babies presenting after the first week of life tend to have acquired problems, although
lower intestinal obstructions, malrotation and, in the very low birthweight baby,
necrotising enterocolitis may present later but this is not as common. Diagnoses to
consider include: posseting, gastroesophageal reflux, cow's milk protein intolerance,
pyloric stenosis, urinary tract infection, late obstruction, peritonitis/appendicitis and
intussusception. Persistent vomiting even in a relatively well baby may indicate a
more serious underlying disorder. Therefore if all investigations are normal, then the
differential diagnosis usually rests between a dietary food intolerance and
gastroesophageal reflux.
F,T,T,T,F
6-A 14-year-old girl was diagnosed with coeliac disease but she refused to
comply with treatment recommendations.
Malabsorption
Severe chest infections
Diarrhoea
Jejunal biopsy changes
Lymphoma
Clinical response to a gluten free diet should occur within the first week or two of
treatment. Not complying with this diet will lead again to the initial presenting
symptoms such as diarrhoea, abdominal bloating and pain. If the diet is not followed
then changes on a biopsy obtained from endoscopy, will be seen and also
malabsorption. Long term complications of persisting with a gluten diet in patients
with coeliac disease include T cell lymphoma. Severe chest infections are not likely.
T,F,T,T,T
3
7-Recognised complications of ulcerative colitis include:
Iridocyclitis
Pyoderma gangrenosum
Urethritis
Polyarthritis
Gastro-colic fistula
8-Concerning jaundice:
The passage of pale stools suggests that the jaundice is obstructive in type
Jaundice in the first 24 hours after birth is usually due to haemolytic disease of the
newborn. Although worldwide, rhesus disease is still the commonest cause. In the
UK, ABO incompatibility is now seen more frequently. Physiological jaundice, due
to low levels of glucoronyl transferase, is first observed at 48 hours and may last until
the end of the first week. Jaundice due to sepsis may occur at any time and therefore
should always be looked for. Galactosaemia, G6PD deficiency, hypothyroidism and
neonatal hepatitis are important causes of prolonged jaundice.
Liver biopsies are performed if the aetiology remains obscure but only after
serological and radiographic (e.g ultrasound or HIDA scan) investigations have
proved unhelpful.
The passage of pale coloured stool and dark urine should always be sought when
taking a history as it points towards an obstructive cause.
F,T,T,F,T
4
9-Bile stained vomiting in infants:
Bile stained vomiting indicates intestinal obstruction distal to the point where the
common bile duct enters the duodenum. Bile stained vomiting is an early feature of
malrotation. Malrotation of the intestine predisposes the midgut to volvulus without
warning. This condition is rapidly fatal: the earliest sign is bile stained vomiting
caused by obstruction to the duodenum caused by the twist.
All infants with bile stained vomiting must be referred to a paediatric surgeon as a
matter of the utmost urgency.
T,F,F,T,F
5
11-Concerning jaundice:
Babies with pale stools and dark urine are likely to have neonatal hepatitis/biliary
atresia, due to conjugated hyperbilirubinaemia and should be urgently referred to a
liver unit. This is a small minority of babies with jaundice however.
F,F,F,T,F
12-A 13-year-old girl has had recurrent abdominal pain and intermittent
diarrhoea over the previous year. During these episodes she may pass 3-7 very
loose stools with mucus. Over the past 3 months she has also passed stools mixed
with blood during the attacks. Though she has not lost weight, her weight has
decreased by crossing a centile. She has not had her menarche. The mother
suffers from vitiligo. Clinical examination was unremarkable. Her blood tests
are as follows: Hb 12.1 g/l, normal differential count, ESR 38mm. An
autoantibody screen is negative.
Barium enema
Colonoscopy T
Radio-isotope study
Abdominal X-ray
Angiography
This girl is most likely to be suffering from inflammatory bowel disease, probably
ulcerative colitis. The most valuable investigation that will give an assessment of
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severity and extent of the disease, including the opportunity to obtain biopsies is a
colonoscopy.
Barium studies and abdominal x-rays do not give sufficient information. Radio-
isotope scans will help in identifying a focus such as a Meckel's diverticulum and
angiography is rarely indicated unless a vascular lesion is suspected of leading to the
intestinal bleed.
13-A 6-week-old baby boy had been vomiting since birth but this had suddenly
increased in violence and frequency over the preceding 3 days. The baby is well
but hungry and failing to thrive.
The most likely diagnosis needing exclusion is pyloric stenosis, so doing a test feed
and establishing the diagnosis first is preferable to a referral without thought.
Speculative reduction of feed volumes will miss the diagnosis, as would presuming it
is just exacerbated gastro-oesophageal reflux. Only once pyloric stenosis is excluded
should overfeeding and gastro-oesophageal reflux be considered in the differential
diagnosis. The child is well so sepsis is least likely.
14-A 3-year-old girl presents with abdominal pain, infrequent stools, screaming
on defecation, blood per rectum, and poor eating. On examination she is
uncooperative but is noticed to have anal tag and fissure.
The commonest cause for her condition is?
Crohn's disease
Haemorrhoids
Constipation T
Hirschprung's disease
Perianal streptococcal disease
7
The vignette is a classic story for constipation. Crohn's disease is far less common.
Haemorrhoids very rarely occur in children. It is a late presentation for Hirschprung's
disease. Perianal streptococcal infection does occur and causes a very painful bottom,
as do pinworms but the presence of a fissure and tags does not fit this diagnosis.
An infant, who is not thriving and who has persistent jaundice after switching to
formula milk, must be further investigated. This cannot simply be put down to simple
prolonged breast milk jaundice. Initially liver function tests must be taken and a total
and split bilirubin levels should be sought.
16-A 5-year-old girl has had a persistent nocturnal cough for over 2 years that
has not responded to treatment including inhaled steroids and bronchodilators.
The cough tends to be paroxysmal and is associated with vomiting and
disturbing her sleep virtually every night. She is happy and normally active
during the day and did not have any exercise intolerance. In other respects she
has been well with no significant past history. There is no family history of
asthma/eczema/allergy. Clinically, her weight was on the 75th centile and her
height on the 50th centile. General and systematic examinations were normal.
CXR - essentially normal. FBC - normal range. CRP 5. PEF 90% predicted.
Mantoux negative.
The next most useful that will aid the diagnosis is?
Bronchoscopy
CT scan of thorax
Ambulatory oesophageal pH study T
Barium meal
Spirometry
8
This 5-year-old had a persistent cough that was characteristically nocturnal,
accompanied by vomiting and with no evidence of any diurnal respiratory symptoms.
The possibility was that the cough is related to the supine posture, especially as there
was accompanying vomiting which was a constant feature. Therefore, in the first
instance, the least invasive investigation of ambulatory oesophageal pH monitoring is
done. A barium meal is done if the possibility of a hiatus hernia is considered. A
bronchoscopy and CT scan may be indicated if the initial investigations are negative.
This girl has severe gastro-oesophageal reflux and symptoms subsided dramatically
following anti-reflux therapy.
Pyloric stenosis has an incidence of 4 per 1000 live births with boys being affected
more than girls in a ratio of 4:1. Approximately 15% of affected infants have a
positive family history, mainly on the mother’s side. Vomiting occurs after feeds
and is projectile but not bile stained, because the obstruction is so high. Persistent
vomiting leads to hypochloraemic/hypokalaemic alkalosis needing fluid replacement
with 0.9% (physiological or normal) saline plus added potassium.
Examination may reveal an olive-shaped abdominal mass during a test feed and
ultrasonography is the investigation of choice. A contrast upper gastrointestinal (GI)
study is also useful, although seldom required, and may be associated with an
increased risk of aspiration. Treatment is surgical by Ramstedt’s pyloromyotomy.
T,F,F,F,T
9
Over-enthusiastic potty training
Of infants with OA 85% will have a tracheo-oesophageal fistula and 30% will have
another abnormality. OA may be part of the ‘VACTERL’ syndrome (i.e.
vertebral, anorectal, cardiovascular, tracheo-oesophageal, renal and limb anomalies).
Mothers typically have polyhydramnios antenatally.
It is diagnosed by the inability to pass a catheter into the stomach, which will be seen
on a radiograph to be coiled in the oesophagus. Contrast radiology should be avoided
because of the risk of aspiration. A tracheo-oesphageal fistula without an OA may
present with recurrent pneumonia.
T,T,F,F,F
In the UK, cows’ milk protein intolerance is the most common cause of chronic
diarrhoea in infants under 1 year
Recognisable food in the stool suggests toddler diarrhoea
Flat mucosa devoid of villa on a jejunal biopsy is diagnostic of coeliac disease
Coeliac disease most commonly presents between 6 and 9 months of age
Ulcerative colitis is inherited in an autosomal recessive manner
10
In the UK, cows’ milk protein intolerance is the most common cause of chronic
diarrhoea in infants under 1 year of age. Other common causes include constipation
with overflow, post gastroenteritis (eg lactose intolerance), infections (eg Salmonella,
Giardia) and toddler diarrhoea which is suggested by recognisable food in the stool, is
of unknown cause and is not of any sinister significance. Coeliac disease is due to
sensitivity to gluten in wheat and rye, which causes the characteristic jejunal villous
atrophy seen at biopsy and leads to malabsorption. However, this is not diagnostic, as
similar appearances may be found with gastroenteritis and cows’ milk
intolerance. Diagnosis is confirmed by clinical remission within weeks of
commencing a gluten-free diet and associated reduction in the number of circulating
IgA-specific antibodies. It has an incidence of about 1 in 2000 and tends to run in
families with girls being more commonly affected. It usually presents at between 9
months and 3 years with failure to thrive and frequent loose stools, although mild
cases may remain undiagnosed into adulthood. Diffuse inflammation and ulceration
of the colon characterise ulcerative colitis; it is rare in childhood and is not inherited
in a mendelian fashion. T,T,F,F,F
A Abetalipoproteinaemia
B Coeliac Disease
C Constipation with overflow
D Crohn’s disease
E Giardiasis
F Ileal tuberculosis
G Lactose intolerance
H Toddler’s diarrhoea
I Ulcerative colitis
J Viral gastro-enteritis
From the history, and the objective weight loss, there is likely to be a significant
pathology ongoing. The time course is a little lengthy to be infective, although not
impossible. The inflammatory markers are raised, indicating an ongoing
inflammatory process. The perianal skin tags should strongly raise the suspicion of
Crohn’s disease. This disease is increasing in childhood and the current incidence
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is between 10 and 25 per 100,000. It is an inflammatory process involving the whole
bowel (mouth to anus). Clinically patients present with abdominal pain, weight
loss/reduced growth and diarrhoea. On examination there may mouth ulceration, and
perianal lesions. Extragastro-intestinal features may be present – including
arthralgia, anaemia and uveitis. Radiological contrast studies will show involvement
of various parts of the bowel (skip lesions), There may also be signs of inflammation
–‘cobblestones’ or ‘rose-thorn’ ulcers. Treatment should be shared
with a tertiary level, multidisciplinary, paediatric gastro-enterological team.
Scenario 2 : A 3-year-old girl has a 2-month history of loose stools. Her parents are
very concerned. The stools often contain ‘undigested food’. She is otherwise
well and thriving.
This is a classic history for toddler’s diarrhoea. The child is well and thriving but
the parents can understandably be anxious. The cause is thought to be due a fast
enteric transit time, and a brisk gastrocolic reflex. Reassurance is vital, but simple
measures such as reducing fruit juice intake may help.
Scenario 3 : An 8-month-old infant has had watery diarrhoea for 4 days. There has
been no recent travel. Her 2-year-old sibling has recently had a similar illness, though
less severe. She is drinking her normal formula milk well and is not dehydrated.
This is an acute history so an infective process is likely; the fact that her sibling had a
similar illness again makes an infective cause much more likely. A viral cause is
more common in this age group (e.g. rotavirus). Viral gastro-enteritis is a self-
limiting condition but there is a risk of dehydration if oral intake is insufficient.
Medications such as loperamide or codeine to ‘reduce’ the diarrhoea have no
place in management, and may lengthen the duration of the illness. Secondary lactose
intolerance is uncommon and before changing the milk to a lactose-free formula,
stool reducing sugars should be checked.
Although all of the answers would cause the listed symptoms, pyloric stenosis,
jejunal stenosis and gastroenteritis would be very unlikely in a thriving child.
The daily volume of feed is quite substantial (1200 mL) and in a 5 kg baby
would work out to 240 mL/kg per day! Approximately 150 mL/kg per day is a
rough guide to a baby’s milk requirement.
23-A 6-week-old baby is referred for back arching and crying. He possets after
feeds, especially when he lies on his back. He is thriving. You suspect gastro-
oesophageal reflux (GOR).
Barium swallow
Trial of Gaviscon
Trial of domperidone and ranitidine
Reassure the parents T
A pH study
This is a difficult situation and different practitioners may have different views. There
is an argument that since the child is thriving, the GOR is something the child will
outgrow and reassurance of the parents should be first line treatment.
In addition, since it can be difficult not to treat a child, a trial of Gaviscon is simple,
has minimal side-effects, and is a reasonable approach. If there is an improvement in
the symptoms further treatment can be initiated as warranted. An oesophageal pH
study is a good investigation for diagnosing severity of GOR, whereas a contrast
upper GI study (or barium meal) is non-physiological and its main value here is in
demonstrating a hiatus hernia; however, if there are good clinical features
investigations may not be needed.
13
Both Crohn’s and ulcerative colitis are associated with finger clubbing, anaemia,
erythema nodosum and arthritis
Crohn’s disease has increased over the past 20–30 years and now affects about 5
per 10, 000 individuals
Ulcerative colitis is characterised by inflammation of the whole thickness of the bowel
wall, especially the terminal ileum and proximal colon
The ‘string sign’, ‘skip lesions’ and ‘rose thorn ulcers’ are
characteristically seen in Crohn’s disease following a barium meal and follow through
Ulcerative colitis classically has diffuse inflammation and ulceration of the entire
rectal and colonic mucosa and is also associated with an incidence of 5 per 100, 000.
It typically presents within the first 12 months or around 10 years of age with
intermittent episodes of abdominal pain and bloody diarrhoea. Other features include
lethargy, fever, clubbing, mouth ulcers, anaemia, arthritis, short stature, erythema
nodosum and toxic dilatation of the colon. Investigations include malabsorption and
infection screens, double contrast barium enema, colonoscopy and biopsies.
25-A 9-month-old infant presents with vomiting and crying. On examination she
is afebrile and has a diffusely tender abdomen. No masses are palpable. Which
one of the following diagnoses is the most important to exclude?
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Gastroenteritis
Intussusception T
Mesenteric adenitis
Hirschsprung’s disease
Colic
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