Gastroenterology Flashcards
A mother brings her 4-week-old baby to see you for the third time. He was born at term by normal vaginal delivery with no complications. You started him on anti-reflux medicine last week but it has not helped. He is now vomiting his whole feeds and is becoming lethargic and passing less urine and stool. His mother says he is hungry even after he vomits. The practice nurse has weighed him and he has lost 200 g since last week. His mother was breastfeeding him while waiting to be seen and as you go to examine him, the baby has a large milky vomit, which cascades over the clinic floor. What is the most likely diagnosis?
A. Gastroenteritis
B. Volvulus
C. Necrotizing enterocolitis (NEC)
D. Intussusception
E. Pyloric stenosis
E. Pyloric stenosis
1 E The most likely explanation is pyloric stenosis (E), which classically presents at 1 month with projectile vomiting and is more common in males. This is caused by hypertrophy of the pyloric muscle at the gastric outlet leading to delayed stomach emptying and gradually increased vomiting. These children are often hungry after the vomit. A volvulus (B) and intussusception (D) would have significant irritability, abdominal distension and tenderness associated with them, in addition to vomiting. NEC (C) is predominately an illness of the premature infant presenting with abdominal distension and bile stained gastric aspirates. When it occurs in term infants there is usually a history of birth asphyxia or severe growth restriction. Gastroenteritis (A) can occur in young infants especially if parents are not using sterilized (boiled and cooled) water to make up formula. It normally presents with a short history of vomiting and diarrhoea in an unwell infant.
A 15-month-old girl has come to see you with her father. The family are worried that she has had diarrhoea for more than a month, occasional vomiting and is losing weight. She used to be a happy interactive baby but now seems lethargic and miserable most of the time. She has no significant past medical history, the rest of the family are well and there is no history of travel. Her mother has well-controlled type 1 diabetes. The child’s weight at 6 months in the personal child health record (‘red book’) was on the 50th centile but she is now just below the 9th. What is the most likely diagnosis?
A. Crohn’s disease
B. Ulcerative colitis
C. Coeliac disease
D. Irritable bowel syndrome
E. Giardiasis
C. Coeliac disease
2 CThe most likely diagnosis is coeliac disease (C), an autoimmune sensitivity to dietary gluten which results in villous atrophy of the small intestine and corresponding malabsorption and malnutrition. Children usually present after weaning and exposure to wheat, with diarrhoea, abdominal distension, failure to thrive and wasting, especially of the buttocks. There is often a family history of autoimmune disease such as thyroid disease or diabetes. Crohn’s disease (A) and ulcerative colitis (B) are rare in paediatrics outside of teenagers. Irritable bowel syndrome (D) would be unusual in such a young child but is associated with abdominal pain and bloating with altered bowel habit, including diarrhoea or constipation. It is primarily a diagnosis of exclusion and while weight loss can be seen if the child eats less to avoid symptoms, it is a less prominent presenting feature. Lastly, giardiasis (E) could easily present like this in a young child; however you would expect a travel history to an endemic area or other family members to be unwell having drunk contaminated water. It would be worthwhile sending a stool sample for cysts and parasites.
A 13-year-boy is brought to see you as he has recently been complaining of abdominal pain and is increasingly tired. On examination you note some early clubbing and erythematous palms. His conjunctivae look pale. He has one or two spider naevi on his chest. His abdomen is soft with mild tenderness in the epigastrium and right upper quadrant. The liver is palpable at 1 cm and you feel the splenic tip. He has normal bowel sounds and no bruits. On slit lamp examination of his eyes, an amber ring is noted around the cornea. What is the most likely diagnosis?
A. Abdominal tuberculosis
B. Cystic fibrosis
C. Wilson’s disease
D. Acute hepatitis A
E. Glandular fever
C. Wilson’s disease
3 C He is presenting with signs of chronic liver failure, clubbing and palmar erythema. While he does have spider naevi you need at least five to be significant. Slit lamp examination of his eyes revealed Kayser–Fleischer rings which are a sign of Wilson’s disease (C). This is an autosomal recessive defect in copper metabolism that results in copper deposition in the tissues and leads to liver failure with cirrhosis, neurological sequelae, renal involvement and cardiac complications. In addition patients develop haemolytic anaemia due to copper deposits in the red cell membrane. Thus, as he has a palpable liver and spleen, he is anaemic and complaining of upper abdominal pain with stigmata of liver failure, the most likely diagnosis is Wilson’s disease (C). Abdominal tuberculosis (A) is part of the differential diagnosis, but is unlikely to cause such significant signs of hepatic dysfunction, and would not explain the eye findings. Cystic fibrosis (B) may cause clubbing, but you have been given no pulmonary information, making this diagnosis unlikely. Acute hepatitis A (D) would not produce signs of chronic liver failure and normally presents with vomiting and possible jaundice. There is often a palpable liver but splenic enlargement would be unusual. Similarly, glandular fever (usually caused by infection with the Epstein–Barr virus (EBV)), would not produce signs of chronic liver failure on examination, but the child may give a history of lethargy and have a palpable liver and spleen. Again, the eye findings would not be explained by EBV infection.
An 8-year-old girl is brought to see you, having not opened her bowels in 8 days. She complains of hard painful stools and recurrent abdominal pain for the past 6 months but no vomiting. Her mother thinks that she is avoiding going to the toilet and reports that she has always been a bit irregular opening her bowels, averaging about twice a week. In her past medical history, she passed meconium on day 1 of life and has had no significant medical problems. On examination she is a well-looking, normally grown child. Her abdomen is soft with a palpable indentable mass in the left iliac fossa. The anus is normal, as are her lower limbs. What is the first step in management?
A. Encourage her to increase her fluid intake, dietary fibre and exercise
B. Introduce scheduled toileting with a positive reward scheme such as a star chart
C. Refer for bowel disimpaction under anaesthesia
D. Start polyethylene glycol with electrolytes such as Movicol
E. Start a stimulant laxative such as senna
A. Encourage her to increase her fluid intake, dietary fibre and exercise
4 AThis is a common presentation of constipation and on examination she has faecal impaction. There are no red flags present in the history such as growth failure, a history of delayed passage of meconium, distended abdomen with vomiting, anal pathology or neurological complications affecting the lower limbs. The correct first line management would be advice on increased fluid/fibre intake and exercise (A). Once her stools are softer, behavioural change management around toileting using star charts will help her overcome the toilet avoidance (B). If lifestyle changes do not produce softer stools or she develops vomiting, she may need medical bowel disimpaction with non-stimulant laxatives (D) but this would not be first line management. Stimulant laxatives (E) should not be used as they may produce more abdominal pain, dependence and have an associated risk of bowel perforation. Referral to the surgeons for bowel disimpaction under anaesthesia would be a last resort after failed medical management and underlying causes of constipation have been ruled out or treated. It is worth reviewing the NICE guidelines on paediatric constipation (www.nice.org.uk/nicemedia/live/12993/48754/48754.pdf).
A 2-week-old baby is brought to accident and emergency by his parents because he has been intermittently inconsolable for the past 12 hours. He does not want to breastfeed and has vomited. The parents think his tummy is upset as he keeps drawing up his legs. He was born at term by normal vaginal delivery with no problems. On examination the abdomen is distended and tense. He is crying and there is a firm swelling in the right groin area. You can hear active bowel sounds. What is the most likely diagnosis?
A. Appendicitis
B. Right inguinal hernia
C. Gastroenteritis
D. NEC
E. Sepsis
B. Right inguinal hernia
5 B On examination you can feel a swelling in the groin which is associated with a tense abdomen. In a vomiting baby this is an incarcerated inguinal hernia (B) and needs to be seen urgently by the surgeons to go to theatre. Appendicitis (A) is common in childhood, most commonly seen between the ages of 11 and 20 years old. However, it is very unusual in the infant as the neck of the appendix is wide and unlikely to obstruct at this age. Gastroenteritis (C) can occur in young infants, especially if parents are
not using sterilized (boiled and cooled) water to make up formula. It normally presents with a short history of vomiting and diarrhoea in an unwell infant, and there may be a contact history such as another family member with diarrhea or vomiting. NEC (D) is predominately an illness of the premature infant presenting with abdominal distension and bile stained nasogastric aspirates. When it occurs in term infants there is usually a history of birth asphyxia or severe growth restriction. In the absence of localizing signs to the abdomen in a child this young you would treat with IV antibiotics to cover neonatal sepsis (E) but this does not explain the swelling in the groin. It is worth noting that inguinal hernias all require surgical review whereas umbilical hernias will self-resolve and need no surgical intervention.
A 5-year-old girl is brought to accident and emergency with a 24-hour history of vomiting and diarrhoea and now her eyes and skin have gone very yellow. She has been taking oral rehydration salts and is still passing urine. She is normally healthy and there is no family history of jaundice. On examination her heart rate is 130 and respiratory rate is 26. She is alert, warm and well perfused. The chest is clear, heart sounds are normal and the abdomen is soft with a 2 cm liver edge. What should the management be?
A. Reassure and discharge home, to return if not keeping fluids down
B. Take bloods to test for liver function, hepatitis, and urea and electrolytes; inform the Health Protection Agency and discharge home with follow-up to review results
C. Take bloods to test for liver function, hepatitis screen and urea and electrolytes and admit for IV fluids
D. Take bloods to test for liver function, hepatitis screen and urea and electrolytes and admit for observation with continued oral rehydration salts
E. Take bloods to check liver function and urea and electrolytes. If they are normal, discharge home with reassurance but to return if not keeping fluids down
B. Take bloods to test for liver function, hepatitis, and urea and electrolytes; inform the Health Protection Agency and discharge home with follow-up to review results
6 B The mostly likely cause of this child’s illness is hepatitis A, which should be reported to the Health Protection Agency (B). If at all possible she should not be admitted to reduce the spread to other patients (D). She is drinking and well hydrated. She does not need IV fluids (C). (A) would be reasonable as she is clinically well but the jaundice and palpable liver should be investigated. (E) is wrong as it does not have a hepatitis screen or health protection reporting.
A 15 year old with well-controlled type 1 diabetes presents with frank haematemesis. Her blood tests in accident and emergency show: pH 7.37, glucose 18.3 mmol/L, haemoglobin 12.3 g/dL, white cell count 5.3×109/L, neutrophils 2.1×109/L, platelets 165×109/L, Na+ 135 mmol/L, K+ 3.5 mmol/L, urea 5.0 mmol/L, creatinine 83 μmol/L, alanine transaminase 740 IU/l, bilisubin 96 μmol/L, alkaline phosphatase 102 IU/l, and albumin 25 g/L. Further investigations once she is stable on the ward show hepatitis B surface antigen negative, anti-hepatitis C virus negative, anti-nuclear antibody (ANA) 1:320 and anti-smooth muscle antibodies are positive. What is the most likely diagnosis?
A. Autoimmune hepatitis with varices
B. Metabolic ketoacidosis
C. Gastroenteritis with a Mallory–Weiss tear
D. Pregnancy with hyperemesis and a Mallory–Weiss tear
E. Systemic lupus erythematosus (SLE)
A. Autoimmune hepatitis with varices
7 A It is important to know some of the associated autoimmune diseases that type 1 diabetics may suffer from. The most common are coeliac and Graves’ disease which are screened for yearly. Autoimmune hepatitis (A) is more common in females and typically presents between the ages of 10 and 30 with either chronic liver failure or acute hepatitis. The ANA will be positive in approximately 80 per cent and the anti-smooth muscle antibody with be positive in approximately 70 per cent of cases. Her pH is normal, so she is not in ketoacidosis (B), and her glucose is raised as a stress response. While she would be isolated in a cubicle on admission in case of gastroenteritis (C), there is no history of diarrhoea and the investigations do not support an infectious cause with a normal white cell count and autoantibodies positive. There is nothing in the history to suggest she is pregnant (D); however it would be good practice to test the urine of any woman of child-bearing age with vomiting or abdominal pain. ANA would normally be positive in SLE (E) but anti-smooth muscle antibodies are associated with autoimmune hepatitis.
An 18-month-old child is brought into accident and emergency with a 2-day history of vomiting, abdominal pain and fever. Which of the following is an unlikely cause of this clinical picture?
A. Lower lobe pneumonia with pain referred to the abdomen
B. Mesenteric adenitis
C. Diabetic ketoacidosis
D. Pyelonephritis
E. NEC
E. NEC
8 E The answer is NEC (E) which classically affects preterm babies in the neonatal period and would not be a cause of abdominal pathology in an 18-month-old child. Pneumonia in the lower lobes (A) may present
as pain in the upper abdomen and fever. Any upper or lower respiratory tract infection in young children can be associated with vomiting, mostly because of inflamed upper airways triggering the gag reflex and increased work of breathing putting pressure on the stomach just below the diaphragm. Mesenteric adenitis (B) is the most likely answer as this is classically how mesenteric adenitis presents, although it is a diagnosis of exclusion, having ruled out other pathology. There is often a preceding viral illness (typically either upper respiratory or gastroenteritis). Enlarged mesenteric glands can be seen on abdominal ultrasound examination. Mesenteric adenitis may be mistaken for appendicitis. While it is unusual for such a young child to develop diabetes (C), even babies can. Infection is often a trigger for new onset or an episode of ketoacidosis in a known diabetic, and this may present with vomiting. Pyelonephritis (D) should always be ruled out in a child with fever and vomiting unless a clear alternative source of infection is identified.
A 13 month old is referred up to her local district general accident and emergency by a GP who is concerned she has intussusception following an 18-hour history of fever, vomiting and intermittent colicky screaming. A kind radiologist agreed to do an urgent ultrasound which shows an area of invaginated bowel in the right side of the colon. What is the most appropriate management?
A. Ask the radiologist to attempt a reduction by rectal air insufflation and if this fails make nil by mouth (NBM) and transfer to a local paediatric surgical unit
B. Make NBM and start intravenous fluids while waiting for transfer to a paediatric surgical unit
C. Move to theatre for an attempt of rectal air insufflation reduction and if this fails move to surgery in the local hospital as the patient will be too unstable for transfer
D. Make NBM, start IV fluids and admit for observation
E. Make NBM and start intravenous fluids, and book him onto the emergency theatre list as he is too unstable for transfer to a local paediatric surgical unit
B. Make NBM and start intravenous fluids while waiting for transfer to a paediatric surgical unit
9 B Up to 75 per cent of cases may be reduced by air insufflation rectally, but if this fails the child will need to be taken directly to theatre as there is a risk of perforation with the procedure. As it is unlikely that a district general hospital will be able to take such a young child to theatre, all procedures should be carried out in a paediatric surgical centre; therefore (A), (C), (D) and (E) are all incorrect and the only option is to transfer (B).
Which of the following is not a cause of PR bleeding?
A. Constipation with an anal fissure
B. Intussusception
C. Meckel’s diverticulum
D. Bacterial gastroenteritis
E. Abdominal migraine
E. Abdominal migraine
10 E Often the first presentation of migraine in children is abdominal pain, in the context of a family history of migraine. This diagnosis would not be supported if the child has per rectum bleeding (E). The most common cause of PR bleeding in children is constipation with an anal fissure and this would produce bright red blood on the toilet tissue or streaked on the surface of the stool (A). Intussusception has a late and uncommon sign of ‘redcurrant jelly’ stool (B) which is due to blood and mucus from the distal end of the invaginated segment of bowel becoming necrotic. At this stage there is a risk of perforation, especially if insufflation is attempted. The diagnosis should ideally be made long before these signs evolve. Two per cent of the population have a Meckel’s diverticulum, an ileal remnant of the vitellointestinal duct which contains ectopic gastric mucosa and can lead to ulceration, perforation and a presentation with severe rectal haemorrhage of dark red blood (C). Bacterial gastroenteritis with Shigella or Salmonella may produce blood and/or pus mixed into the stool (D).
A mother brings her 2 year old to see you. She is very worried that he always has diarrhoea or loose stools. He eats a normal diet, and no particular foods seem to upset him but he often still has bits of vegetables or food he has eaten visible in the stool. She thinks he is losing weight and he is starting to potty train, so she is concerned this will affect his ability to anticipate needing the toilet. On examination he is an alert and well-looking child with a normal capillary refill, heart and respiratory rate. His abdomen is soft with no masses, there is no evidence of wasting and his weight and height are following the 50th centile. What is the most appropriate management?
A. Reassure the mother, explaining this is toddler’s diarrhoea and he will grow out of it
B. Start loperamide as toddler’s diarrhoea is affecting his toilet training
C. Refer for endoscopy and biopsy to rule out coeliac disease
D. Refer for a colonoscopy and biopsy for inflammatory bowel disease
E. Order a blood test for thyroid function to rule out hyperthyroidism
A. Reassure the mother, explaining this is toddler’s diarrhoea and he will grow out of it
11 A This is toddler’s diarrhoea which is a common cause of loose stool in pre-school aged children and almost always requires no treatment (A). It is likely to be related to immature development of intestinal motility and it resolves in most children by the age of 5. Rarely, if the diarrhoea is socially disruptive to the child, it can be treated with loperamide (B), but he is only just starting to potty train and should be given a chance to do so. ‘Significant social disruption’ would be considered if he has failed to potty train and was unable to start school. He is a well-grown child with no evidence of wasting, so coeliac disease (C) is unlikely and the first investigation for this would be a blood test for anti-endomesial antibodies, not endoscopy. Inflammatory bowel disease (D) would be rare in a child this young, and there is no mention of abdominal pain, passage of blood and mucus or any suggestion of growth failure. While diarrhoea is a common symptom of hyperthyroidism (E), it is more commonly seen in female teenagers or in the neonatal period in infants born to mothers with Graves’ disease. He is growing normally and has no other features of hyperthyroidism such as restlessness, increased appetite, sweating or tachycardia.
A 10-year-old boy presents with recurrent mouth ulcers, abdominal pain, distension and frequent episodes of diarrhoea with mucus. He has been losing weight. On examination he is slim and plotting his growth shows a fall in weight from the 50th centile to below the 9th. His abdomen is soft with generalized discomfort on deep palpation but no masses are present. What is the most likely diagnosis?
A. Ulcerative colitis
B. Crohn’s disease
C. Coeliac disease
D. Gastroenteritis
E. NEC
B. Crohn’s disease
12 B Inflammatory bowel disease (IBD) can be difficult to separate clinically into Crohn’s and ulcerative colitis. A younger child with IBD is more likely to have Crohn’s disease (B), although its incidence increases with age. He has mouth ulcers which would not go with ulcerative colitis (A). Ulcerative colitis is a rectal disorder with proximal spread. Coeliac disease (C) would normally present in young children as it is associated with the weaning process and ingestion of wheat, although the diagnosis should be considered in all children with growth failure. This is a more chronic story than would be expected for gastroenteritis (D) which should not produce failure to thrive. NEC (E) is predominately an illness of the premature infant presenting with abdominal distension and bile stained aspirates.
A 15-year-old boy comes to see you, complaining of recurrent abdominal and back passage pain relieved by passage of diarrhoea. He is also complaining of low back and knee pain and last week there was blood mixed into his stool. He has been losing weight recently. On examination he is slim and looks pale. His abdomen is soft but tender in the left iliac fossa with no masses. What is the most likely diagnosis?
A. Ulcerative colitis
B. Crohn’s disease
C. Coeliac disease
D. Gastroenteritis
E. NEC
A. Ulcerative colitis
13 A Ulcerative colitis (A) can affect any age but is rare in early childhood and increases in incidence with age. It is a recurrent inflammatory ulcerating disease of the mucous membrane layer of the rectum which spreads proximally to involve the colon. It classically presents with abdominal pain with blood or mucus mixed into diarrhoea. It is associated with erythema nodosum, pyoderma gangrenosum, arthritis and spondylitis, which may explain his back and knee pain. Crohn’s disease (B) can be difficult to distinguish from ulcerative colitis but it is not commonly associated with spondylitis suggested by the back pain. The main distinction is on histology with Crohn’s disease showing non-caseating granuloma and full thickness lesions. Coeliac disease (C) usually presents with malnutrition and abdominal bloating. Diarrhoea may be a presenting feature but blood would be unusual and would be digested, i.e. dark stools. This is a more chronic story than you would expect for gastroenteritis (D) and the arthritis does not tie in. NEC (E) is predominately an illness of the premature infant presenting with abdominal distension and bile stained aspirates.
Ninety-nine per cent of healthy term infants will pass meconium within the first 24 hours of life and all should do so within 48 hours. Which of the following is not a cause of delayed meconium passage?
A. Hirschsprung’s disease
B. Cystic fibrosis with a meconium ileus
C. Choanal atresia
D. Imperforate anus
E. Meconium plug syndrome
C. Choanal atresia
14 C Choanal atresia (C) is a congenital blockage of the nasal airway which presents with newborn cyanosis and respiratory distress, as infants are obligate nose breathers. The most common cause of delayed meconium passage is (E), which is a transient immaturity of the gut resulting in failure to move a plug of meconium along. The management is with anal stimulation with a glycerine chip. Approximately 20 per cent of cystic fibrosis cases will present with a meconium ileus (B) due to inspissated meconium. Approximately one in 4000 babies will have Hirschprung’s disease (A) which is caused by the absence of ganglion cells from the myenteric and submucosal plexi in part of the rectum or colon which results in narrowed bowel in the denervated region. The lack of bowel wall movement fails to move the meconium along. The management is surgical resection of the denervated portion of bowel. An imperforate anus (D) is slightly less common than Hirschprung’s disease, and will require surgical intervention.
A 3-month-old baby is brought to accident and emergency because he has been vomiting and having diarrhoea for the past month. His mother breastfed him until he was 8 weeks old and he is now taking formula milk, 4–5 oz every 4 hours. On examination he is alert but fussy and looks thin. He has eczema on his face, neck and torso and the mother says this is new. The abdomen is soft, the genitalia are normal with a significant nappy rash and the anal margin is erythematous. You plot his growth in his red book and find that he was born on the 50th centile and was following that but now he is on the 25th centile for weight. What is the most likely diagnosis?
A. Cow’s milk protein intolerance
B. Lactose intolerance
C. Gastroenteritis
D. Hyper IgE syndrome
E. Wiskott–Aldrich syndrome
A. Cow’s milk protein intolerance
15 A In light of the eczema that has developed since breastfeeding cessation, plus the nappy rash and anal inflammation, the most likely explanation is cow’s milk protein intolerance (A), an allergic reaction to the cow’s milk proteins, which is different from lactose intolerance (B). Cow’s milk protein intolerance typically presents with exposure to cow’s milk in infancy, although in severe cases maternal ingestion of dairy products may affect a breastfeeding infant. The infant has worsening skin inflammation (eczema), vomiting, diarrhoea (which may be bloody), failure to thrive, irritability and colic. Lactose intolerance (B) is typically acquired following acute gastroenteritis. It is unusual in infancy, although rarely it can be congenital. It is a deficiency in the enzyme, lactose dehydrogenase, which breaks down lactose (the disaccharide sugar in milk). The build up of sugars in the gut results in an osmotic diarrhoea and dehydration. This history is too long for gastroenteritis (C) which could be associated with the introduction of bottle feeds if the equipment and water has not been sterilized. Hyper IgE syndrome (D), sometimes referred to as Job’s syndrome, is an autosomal dominant immunodeficiency which is associated with severe eczema and skin boils but does not have significant gastrointestinal presentations. Wiskott–Aldrich syndrome (E) is also associated with eczema. This is an X-linked recessive disorder associated with thrombocytopenia, eczema and lymphopenia, but no significant gastrointestinal symptoms.
