Paediatrics- Gastro Flashcards
Medical Causes of Abdominal Pain
- Constipation is also very common
- Urinary tract infection
- Coeliac disease
- Inflammatory bowel disease
- Irritable bowel syndrome
- Mesenteric adenitis
- Abdominal migraine
- Pyelonephritis
- Henoch-Schonlein purpura
- Tonsilitis
- Diabetic ketoacidosis
- Infantile colic
Medical Causes of Abdominal Pain
There are addition causes in adolescent girls:
- Dysmenorrhea (period pain)
- Mittelschmerz (ovulation pain)
- Ectopic pregnancy
- Pelvic inflammatory disease
- Ovarian torsion
- Pregnancy
Surgical Causes of Abdominal Pain
- Appendicitis causes central abdominal pain spreading to the right iliac fossa
- Intussusception causes colicky non-specific abdominal pain with redcurrant jelly stools
- Bowel obstruction causes pain, distention, absolute constipation and vomiting
- Testicular torsion causes sudden onset, unilateral testicular pain, nausea and vomiting
Red Flags for Serious Abdominal Pain
- Persistent or bilious vomiting
- Severe chronic diarrhoea
- Fever
- Rectal bleeding
- Weight loss or faltering growth
- Dysphagia (difficulty swallowing)
- Nighttime pain
- Abdominal tenderness
Abdominal Pain
Initial investigations that may indicate the pathology pathology:
- Anaemia can indicate inflammatory bowel disease or coeliac disease
- Raised inflammatory markers (ESR and CRP) can indicate inflammatory bowel disease
- Raised anti-TTG or anti-EMA antibodies indicates coeliac disease
- Raised faecal calprotectin indicates inflammatory bowel disease
- Positive urine dipstick indicates a urinary tract infection
Recurrent abdominal pain often corresponds to stressful life events, such as
loss of a relative or bullying. The leading theory for the cause is increased sensitivity and inappropriate pain signals from the visceral nerves (the nerves in the gut) in response to normal stimuli.
Abdo Pain
Management involves careful explanation and reassurance. Measures that can help manage the pain are:
- Distracting the child from the pain with other activities or interests
- Encourage parents not to ask about or focus on the pain
- Advice about sleep, regular meals, healthy balanced diet, staying hydrated, exercise and reducing stress
- Probiotic supplements may help symptoms of irritable bowel syndrome
- Avoid NSAIDs such as ibuprofen
- Address psychosocial triggers and exacerbating factors
- Support from a school counsellor or child psychologist
Abdominal Migraine
What is this
Children are more likely than adults to suffer with a condition called abdominal migraine. This may occur in young children before they develop traditional migraines as they get older. Abdominal migraine presents with episodes of central abdominal pain lasting more than 1 hour. Examination will be normal.
Abdominal Migraine may be associated with
- Nausea and vomiting
- Anorexia
- Pallor
- Headache
- Photophobia
- Aura
Management of abdominal migraine is similar to migraine in adults. Careful explanation and education is important. It involves treating acute attacks and preventative measures. Preventative medications are initiated by a specialist.
Treating the acute attack:
Low stimulus environment (quiet, dark room)
Paracetamol
Ibuprofen
Sumatriptan
Whar are some Preventative medications used for abdominal migraine
Pizotifen, a serotonin agonist
Propranolol, a non-selective beta blocker
Cyproheptadine, an antihistamine
Flunarazine, a calcium channel blocker
Pizotifen is the main preventative medication to remember for abdominal migraine. It needs to be withdrawn slowly when stopping as it is associated with withdrawal symptoms such as depression, anxiety, poor sleep and tremor.
Constipation in children is a very common problem in paediatrics. Most cases of constipation can be described as __________ constipation or _________ constipation,
Constipation in children is a very common problem in paediatrics. Most cases of constipation can be described as idiopathic constipation or functional constipation,
It is important to think about possible secondary causes of constipation, such as
- Hirschsprung’s disease
- Cystic fibrosis (particularly meconium ileus)
- Hypothyroidism
- Spinal cord lesions
- Sexual abuse
- Intestinal obstruction
- Anal stenosis
- Cows milk intolerance
Typical features in the history and examination that suggest constipation are:
- Less than 3 stools a week
- Hard stools that are difficult to pass
- Rabbit dropping stools
- Straining and painful passages of stools
- Abdominal pain
- Holding an abnormal posture, referred to as retentive posturing
- Rectal bleeding associated with hard stools
- Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools
- Hard stools may be palpable in abdomen
- Loss of the sensation of the need to open the bowels
WHat does Encopresis mean
Encopresis is the term for faecal incontinence. This is not considered pathological until 4 years of age. It is usually a sign of chronic constipation where the rectum becomes stretched and looses sensation. Large hard stools remain in the rectum and only loose stools are able to bypass the blockage and leak out, causing soiling.
Other rarer causes of encopresis include:
- Spina bifida
- Hirschprung’s disease
- Cerebral palsy
- Learning disability
- Psychosocial stress
- Abuse
There are a number of lifestyle factors that can contribute to the development and continuation of constipation:
- Habitually not opening the bowels
- Low fibre diet
- Poor fluid intake and dehydration
- Sedentary lifestyle
- Psychosocial problems such as a difficult home or school environment (always keep safeguarding in mind)
What is Desensitisation of the Rectum
Often patients develop a habit of not opening their bowels when they need to and ignoring the sensation of a full rectum. Over time they loose the sensation of needing to open their bowels, and they open their bowels even less frequently. They start to retain faeces in their rectum. This leads to faecal impaction, which is where a large, hard stool blocks the rectum. Over time the rectum stretches as it fills with more and more faeces. This leads to further desensitisation of the rectum. The longer this goes on, the more difficult it is to treat the constipation and reverse the problem.
Red flags are things in the history or examination that should make you think about serious underlying conditions that may be causing the constipation. These should prompt further investigations and referral to a specialist:
- Not passing meconium within 48 hours of birth (cystic fibrosis or Hirschsprung’s disease)
- Neurological signs or symptoms, particularly in the lower limbs (cerebral palsy or spinal cord lesion)
- Vomiting (intestinal obstruction or Hirschsprung’s disease)
- Ribbon stool (anal stenosis)
- Abnormal anus (anal stenosis, inflammatory bowel disease or sexual abuse)
- Abnormal lower back or buttocks (spina bifida, spinal cord lesion or sacral agenesis)
- Failure to thrive (coeliac disease, hypothyroidism or safeguarding)
- Acute severe abdominal pain and bloating (obstruction or intussusception)
Constipation Complications
- Pain
- Reduced sensation
- Anal fissures
- Haemorrhoids
- Overflow and soiling
- Psychosocial morbidity
Management of constipation
NICE clinical knowledge summaries recommend:
- Correct any reversible contributing factors, recommend a high fibre diet and good hydration
- Start laxatives (movicol is first line)
- Faecal impaction may require a disimpaction regimen with high doses of laxatives at first
- Encourage and praise visiting the toilet. This could involve scheduling visits, a bowel diary and star charts.
Laxatives should be continued long term and slowly weaned off as the child develops a normal, regular bowel habit.
Gastro-oesophageal reflux is where contents from the stomach reflux through the ______ ___________ _________ into the oesophagus, throat and mouth.
Gastro-oesophageal reflux is where contents from the stomach reflux through the lower oesophageal sphincter into the oesophagus, throat and mouth.
How is GORD developed in babies
In babies there is immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus. It is normal for a baby to reflux feeds, and provided there is normal growth and the baby is otherwise well this is not a problem, however it can be upsetting for parents. This usually improves as they grow and 90% of infants stop having reflux by 1 year.
GORD
It is normal for babies to have some reflux after larger feeds. It becomes more troublesome when this causes them to become distressed. Signs of problematic reflux include:
- Chronic cough
- Hoarse cry
- Distress, crying or unsettled after feeding
- Reluctance to feed
- Pneumonia
- Poor weight gain
Children over one year may experience similar symptoms to adults, with heartburn, acid regurgitation, retrosternal or epigastric pain, bloating and nocturnal cough.
Vomiting is very non-specific and is often not indicative of underlying pathology. Some of the possible causes of vomiting include:
- Overfeeding
- Gastro-oesophageal reflux
- Pyloric stenosis (projective vomiting)
- Gastritis or gastroenteritis
- Appendicitis
- Infections such as UTI, tonsillitis or meningitis
- Intestinal obstruction
- Bulimia
Vomitting
Red Flags
Certain features in the history should make you think about serious underlying problems:
- Not keeping down any feed (pyloric stenosis or intestinal obstruction)
- Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction)
- Bile stained vomit (intestinal obstruction)
- Haematemesis or melaena (peptic ulcer, oesophagitis or varices)
- Abdominal distention (intestinal obstruction)
- Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure)
- Respiratory symptoms (aspiration and infection)
- Blood in the stools (gastroenteritis or cows milk protein allergy)
- Signs of infection (pneumonia, UTI, tonsillitis, otitis or meningitis)
- Rash, angioedema and other signs of allergy (cows milk protein allergy)
- Apnoeas are a concerning feature and may indicate serious underlying pathology and need urgent assessment
Management for GORD
In simple cases some explanation, reassurance and practical advice is all that is needed. Advise:
- Small, frequent meals
- Burping regularly to help milk settle
- Not over-feeding
- Keep the baby upright after feeding (i.e. not lying flat)
More problematic cases of GORD can justify treatment with
- Gaviscon mixed with feeds
- Thickened milk or formula (specific anti-reflux formulas are available)
- Ranitidine
- Omeprazole where ranitidine is inadequate
GORD management
Rarely in severe cases they may need further investigation with a ______ ____ and ________. Surgical ___________ can be considered in very severe cases, however this is very rarely required or performed.
Rarely in severe cases they may need further investigation with a barium meal and endoscopy. Surgical fundoplication can be considered in very severe cases, however this is very rarely required or performed.
WHat is Sandifer’s Syndrome
This is a rare condition causing brief episodes of abnormal movements associated with gastro-oesophageal reflux in infants. The infants are usually neurologically normal.
Sandifer’s Syndrome
Key features
- Torticollis: forceful contraction of the neck muscles causing twisting of the neck
- Dystonia: abnormal muscle contractions causing twisting movements, arching of the back or unusual postures
Sandifer’s Syndrome
management
The condition tends to resolve as the reflux is treated or improves. Generally the outcome is good. It is worth referring patients with these symptoms to a specialist for assessment, as the differential diagnosis includes more serious conditions such as infantile spasms (West syndrome) and seizures.
What is pyloric sphincter
The pyloric sphincter is a ring of smooth muscle the forms the canal between the stomach and the duodenum.
Hypertrophy (thickening) and therefore narrowing of the pylorus is called
pyloric stenosis.
This prevents food traveling from the stomach to the duodenum as normal.
Pyloric stenosis
WHat causes “projectile vomiting”
After feeding, there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum. Eventually it becomes so powerful that it ejects the food into the oesophagus, out of the mouth and across the room. This is called “projectile vomiting”
Features of
Pyloric stenosis
Pyloric stenosis typically presents in the first few weeks of life, with a hungry baby that is thin, pale and generally failing to thrive. The classic description of vomiting you should remember for your exams is “projectile vomiting”.
If examined after feeding, often the peristalsis can be seen by observing the abdomen. A firm, round mass can be felt in the upper abdomen that “feels like a large olive”. This is caused by the hypertrophic muscle of the pylorus.
Blood gas analysis will show a hypochloric (low chloride) metabolic alkalosis as the baby is vomiting the hydrochloric acid from the stomach. This is a common data interpretation question in exams, so worth remembering.
Diagnosis of pyloric stenosis
abdominal ultrasound to visualise the thickened pylorus.
Management of pyloric stenosis
Treatment involves a laparoscopic pyloromyotomy (known as “Ramstedt’s operation“). An incision is made in the smooth muscle of the pylorus to widen the canal allowing that food to pass from the stomach to the duodenum as normal. Prognosis is excellent following the operation.
What is Acute gastritis
is inflammation of the stomach and presents with nausea and vomiting
WHat does Enteritis mean
is inflammation of the intestines and presents with diarrhoea.
Gastroenteritis is
inflammation all the way from the stomach to the intestines and presents with nausea, vomiting and diarrhoea.
is most common cause of gastroenteritis bacterial/viral/fungal
viral
Gastroenteritis
It is essential to ________ the patient in any healthcare environment, such as a paediatric assessment unit or hospital ward, as they can easily spread it to other patients.
It is essential to isolate the patient in any healthcare environment, such as a paediatric assessment unit or hospital ward, as they can easily spread it to other patients.
What is the main concern with gastroenteritis?
Dehydration
Management for gastroenteritis
The key to management is establishing whether they are able to keep themselves hydrated or whether they need admission for IV fluids. Antibiotics are generally not recommended or required. Most children make a full recovery with simple supportive management, but beware gastroenteritis can potentially be fatal, especially in very young or vulnerable children with other health conditions.
Key conditions to think about in patients with loose stools are:
- Infection (gastroenteritis)
- Inflammatory bowel disease
- Lactose intolerance
- Coeliac disease
- Cystic fibrosis
- Toddler’s diarrhoea
- Irritable bowel syndrome
- Medications (e.g. antibiotics)
What does Steatorrhoea mean
greasy stools with excessive fat content. This suggests a problem with digesting fats, such as pancreatic insufficiency (think about cystic fibrosis).
Viral Gastroenteritis causes
- Rotavirus
- Norovirus
Adenovirus is a less common cause and presents with a more subacute diarrhoea.
E. coli 0157 produces the _____ ____
E. coli 0157 produces the Shiga toxin
Shiga toxin destroys blood cells and leads to haemolytic uraemic syndrome (HUS).
The use of antibiotics increases the risk of haemolytic uraemic syndrome, therefore antibiotics should be avoided if _____ gastroenteritis is considered.
The use of antibiotics increases the risk of haemolytic uraemic syndrome, therefore antibiotics should be avoided if E. coli gastroenteritis is considered.
is the most common bacterial cause of gastroenteritis worldwide
is a common cause of travellers diarrhoea
Campylobacter
Campylobacter means “curved bacteria”. It is a gram negative bacteria that has a curved or spiral shape. It is spread by:
- Raw or improperly cooked poultry
- Untreated water
- Unpasteurised milk
Campylobacter Jejuni
Incubation is usually 2 to 5 days. Symptoms resolve after 3 to 6 days. Symptoms are:
Abdominal cramps
Diarrhoea often with blood
Vomiting
Fever
Management of Campylobacter Jejuni
Antibiotics can be considered after isolating the organism where patients have severe symptoms or other risk factors such as HIV or heart failure. Popular antibiotic choices are azithromycin or ciprofloxacin.
Shigella
How is it spread?
Incubation period?
Bloody or non bloody diarrhoea?
Treatment?
spread by faeces contaminating drinking water, swimming pools and food.
he incubation period is 1 to 2 days and symptoms usually resolve within 1 week without treatment.
bloody diarrhoea,
azithromycin or ciprofloxacin.
Salmonella
Spread by?
Incubation period?
bloody or non bloody diarrhoea?
Treatment?
spread by eating raw eggs or poultry, or food contaminated with the infected faeces of small animals.
Incubation is 12 hours to 3 days and symptoms usually resolve within 1 week
diarrhoea that can be associated with mucus or blood
Antibiotics are only necessary in severe cases and should be guided by stool culture and sensitivities.
What is the typical exam patient with bacillus cereus
The typical exam patient with bacillus cereus develops symptoms soon after eating leftover fried rice that has been left at room temperature.
It has a short incubation period after eating the rice before symptoms occur, and they recover within 24 hours. Examiners like this question because the course of bacillus cereus is easy to distinguish from the other causes of gastroenteritis, so if you remember one cause of gastroenteritis this is probably the most likely to come up in exams
key carriers of Yersinia Enterocolitica?
Pigs
eating raw or undercooked pork
Yersinia Enterocolitica spread?
It is also spread through contamination with the urine or faeces of other mammal such as rats and rabbits.
Yersinia Enterocolitica can be associated with ?
Appendicitis
Staphylococcus aureus can produce
enterotoxins when growing on food such as eggs, dairy and meat
Giardia lamblia is a type of microscopic ______. It lives in the ____ _______ of mammals.
Giardia lamblia is a type of microscopic parasite. It lives in the small intestines of mammals
Giardia lamblia spread
This is called faecal-oral transmission
Giardiasis tx
metronidazole
Antidiarrhoeal medication such as _______ and antiemetic medication such as ___________ are generally not recommended.
Antidiarrhoeal medication such as loperamide and antiemetic medication such as metoclopramide are generally not recommended.
The are possible post-gastroenteritis complications:
Lactose intolerance
Irritable bowel syndrome
Reactive arthritis
Guillain–Barré syndrome
What is Coeliac disease
Coeliac disease is an autoimmune condition where exposure to gluten causes an immune reaction that creates inflammation in the small intestine. It usually develops in early childhood but can start at any age.
coeliac disease autoantibodies
anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA
Deaminated gliadin peptides antibodies (anti-DGPs)
Coeliac disease
Inflammation affects the small bowel, particularly the ________. It causes ______ of the intestinal villi.
Inflammation affects the small bowel, particularly the jejunum. It causes atrophy of the intestinal villi.
Coeliac disease is often asymptomatic, so have a low threshold for testing for coeliac disease in patients where it is suspected. Symptoms can include
- Failure to thrive in young children
- Diarrhoea
- Fatigue
- Weight loss
- Mouth ulcers
- Anaemia secondary to iron, B12 or folate deficiency
- Dermatitis herpetiformis is an itchy blistering skin rash that typically appears on the abdomen
Coeliac disease
Rarely coeliac disease can present with neurological symptoms:
Peripheral neuropathy
Cerebellar ataxia
Epilepsy
Remember that we test all patients with a new diagnosis of _____ ___ ______ for coeliac disease, even if they don’t have symptom, because the conditions are often linked.
Remember that we test all patients with a new diagnosis of type 1 diabetes for coeliac disease, even if they don’t have symptom, because the conditions are often linked.
Genetic Associations for coeliac disease
HLA-DQ2 gene (90%)
HLA-DQ8 gene
What type of immunoglobulins are Anti-TTG and anti-EMA antibodies
IgA
Coeliac disease
Diagnosis
Check total immunoglobulin A levels to exclude IgA deficiency before checking for coeliac disease specific antibodies:
- Raised anti-TTG antibodies (first choice)
- Raised anti-endomysial antibodies
Endoscopy and intestinal biopsy show:
- “Crypt hypertrophy”
- “Villous atrophy”
Coeliac disease is associated with many other conditions:
Type 1 diabetes
Thyroid disease
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis
Down’s syndrome
Complications of Untreated Coeliac Disease
- Vitamin deficiency
- Anaemia
- Osteoporosis
- Ulcerative jejunitis
- Enteropathy-associated T-cell lymphoma (EATL) of the intestine
- Non-Hodgkin lymphoma (NHL)
- Small bowel adenocarcinoma (rare)
Treatment for coeliac disease
A lifelong gluten free diet is essentially curative. Relapse will occur on consuming gluten again. Checking coeliac antibodies can be helpful in monitoring the disease.
Features of Crohn’s
Remember (crows NESTS)
N – No blood or mucus (these are less common in Crohns.)
E – Entire GI tract
S – “Skip lesions” on endoscopy
T – Terminal ileum most affected and Transmural (full thickness) inflammation
S – Smoking is a risk factor (don’t set the nest on fire)
Crohn’s is also associated with weight loss, strictures and fistulas.
Features of Ulcerative Colitis
(remember U – C – CLOSEUP)
C – Continuous inflammation
L – Limited to colon and rectum
O – Only superficial mucosa affected
S – Smoking is protective
E – Excrete blood and mucus
U – Use aminosalicylates
P – Primary sclerosing cholangitis
Presentation of IBD
Suspect inflammatory bowel disease in children and teenagers presenting with perfuse diarrhoea, abdominal pain, bleeding, weight loss or anaemia. They may be systemically unwell during flares, with fevers, malaise and dehydration.
Patients with inflammatory bowel disease can develop signs outside the gastrointestinal system that examiners like to test. It is worth remembering these extra-intestinal manifestations:
Finger clubbing
Erythema nodosum
Pyoderma gangrenosum
Episcleritis and iritis
Inflammatory arthritis
Primary sclerosing cholangitis (ulcerative colitis)
Testing for IBD
Blood tests for anaemia, infection, thyroid, kidney and liver function. A raised CRP indicates active inflammation.
Faecal calprotectin is released by the intestines when inflamed. It is a useful screening test and is more than 90% sensitive and specific for IBD in adults.
Endoscopy (OGD and colonoscopy) with biopsy is the gold standard investigation for diagnosis of IBD.
Imaging with ultrasound, CT and MRI can be used to look for complications such as fistulas, abscesses and strictures.
Management of Crohn’s
First line are steroids (e.g. oral prednisolone or IV hydrocortisone).
If steroids alone don’t work, consider adding immunosuppressant medication under specialist guidance:
- Azathioprine
- Mercaptopurine
- Methotrexate
- Infliximab
- Adalimumab
Maintaing remission for IBD
Azathioprine
Mercaptopurine
Aminosalicylate (e.g. mesalazine oral or rectal) UC
Surgery for Crohns?
When the disease only affects the distal ileum it is possible to surgically resect this area to prevent further flares. Crohn’s typically involves the entire GI tract. Surgery can also be used to treat strictures and fistulas secondary to Crohn’s disease.
UC medication?
Inducing Remission
Mild to moderate disease
- First line: aminosalicylate (e.g. mesalazine oral or rectal)
- Second line: corticosteroids (e.g. prednisolone)
Severe disease
- First line: IV corticosteroids (e.g. hydrocortisone)
- Second line: IV ciclosporin
UC surgery?
Ulcerative colitis usually only affects the colon and rectum. Therefore, removing the colon and rectum (panproctocolectomy) will remove the disease. The patient is then left with either a permanent ileostomy or something called an ileo-anal anastomosis (J-pouch). This is where the ileum is folded back on itself and fashioned into a larger pouch that functions like a rectum. This “J-pouch” is then attached to the anus and collects stools prior to the person passing a motion.
What is Biliary atresia
Biliary atresia is a congenital condition where a section of the bile duct is either narrowed or absent. This results in cholestasis, where the bile cannot be transported from the liver to the bowel. Conjugated bilirubin is excreted in the bile, therefore biliary atresia prevents the excretion of conjugated bilirubin.
Biliary atresia presents shortly after birth with significant _______ due to high conjugated bilirubin levels.
Biliary atresia presents shortly after birth with significant jaundice due to high conjugated bilirubin levels.
The initial investigation for possible biliary atresia is ______ and _______ bilirubin.
The initial investigation for possible biliary atresia is conjugated and unconjugated bilirubin.
A high proportion of conjugated bilirubin suggests the liver is processing the bilirubin for excretion (by conjugating it), but it is not able to excrete the conjugated bilirubin because it cannot flow through the biliary duct into the bowel.
Management of biliary atresia is
Management of biliary atresia is with surgery. The “Kasai portoenterostomy” involves attaching a section of the small intestine to the opening of the liver, where the bile duct normally attaches. This is somewhat successful and can clear the jaundice and prolong survival. Often patients require a full liver transplant to resolve the condition.
WHat is Intestinal obstruction
Intestinal obstruction is where a physical obstruction prevents the flow of faeces through the intestines. This blockage will lead to a back-pressure through the gastrointestinal system, causing vomiting. It also causes absolute constipation, where the patient is unable to pass stools or wind.
Causes of Intestinal Obstruction
- Meconium ileus
- Hirschsprung’s disease
- Oesophageal atresia
- Duodenal atresia
- Intussusception
- Imperforate anus
- Malrotation of the intestines with a volvulus
- Strangulated hernia
Presentation of intestinal obstruction
- Persistent vomiting. This may be bilious, containing bright green bile.
- Abdominal pain and distention
- Failure to pass stools or wind
- Abnormal bowel sounds. These can be high pitched and “tinkling” early in the obstruction and absent later.
Diagnosis of intestinal obstruction
The initial investigation of choice is an abdominal xray. This may show dilated loops of bowel proximal to the obstruction and collapsed loops of bowel distal to the obstruction. There will also be absence of air in the rectum.
Management of intestinal obstruction
Patients presenting with intestinal obstruction need to be referred to a paediatric surgical unit as an emergency. Initial management involves making them nil by mouth and inserting a nasogastric tube to help drain the stomach and stop the vomiting. They will also require IV fluids to correct any dehydration and electrolyte imbalances, and keep them hydrated while waiting for definitive management of the underlying cause.
What is Hirschsprung’s Disease
Hirschsprung’s disease is a congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum. The myenteric plexus, also known as Auerbach’s plexus, forms the enteric nervous system. It is the brain of the gut.
Genetics and Associations of Hirschsprung’s.
Hirschsprung’s disease usually occurs in isolation, however it is associated with a number of other syndromes, including:
- Downs syndrome
- Neurofibromatosis
- Waardenburg syndrome (a genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair)
- Multiple endocrine neoplasia type II
Hirschsprung’s disease Presentation
The severity of the presentation and the age at diagnosis varies significantly depending on the individual and the extent of the bowel that is affected. It can present with acute intestinal obstruction shortly after birth or more gradually developing symptoms:
- Delay in passing meconium (more than 24 hours)
- Chronic constipation since birth
- Abdominal pain and distention
- Vomiting
- Poor weight gain and failure to thrive
Hirschsprung-Associated Enterocolitis is life threatening and can lead to
toxic megacolon and perforation of the bowel. It requires urgent antibiotics, fluid resuscitation and decompression of the obstructed bowel.
Diagnosis and Management of Hirschsprung’s disease
Abdominal xray can be helpful in diagnosing intestinal obstruction and demonstrating features of HAEC.
Rectal biopsy is used to confirm the diagnosis. The bowel histology will demonstrates an absence of ganglionic cells.
Unwell children and those with enterocolitis will require initial fluid resuscitation and management of the intestinal obstruction. IV antibiotics are required in HAEC.
Definitive management is by surgical removal of the aganglionic section of bowel
What is Intussusception
Intussusception is a condition where the bowel “invaginates” or “telescopes” into itself. Picture the bowel folding inwards. This thickens the overall size of the bowel and narrows the lumen at the folded area, leading to a palpable mass in the abdomen and obstruction to the passage of faeces through the bowel. It typically occurs in infants 6 months to 2 years and is more common in boys.
Intussusception
It is associated with various conditions:
- Concurrent viral illness
- Henoch-Schonlein purpura
- Cystic fibrosis
- Intestinal polyps
- Meckel diverticulum
Intussusception
Presentation
- Severe, colicky abdominal pain
- Pale, lethargic and unwell child
- “Redcurrant jelly stool”
- Right upper quadrant mass on palpation. This is described as “sausage-shaped”
- Vomiting
- Intestinal obstruction
Classic exam features of Intussusception
Look out for the “redcurrant jelly stool” in your exams as this indicates intussusception as a diagnosis. The other classic feature is the sausage-shaped mass in the abdomen. The typical child in the exam will have had a viral upper respiratory tract infection preceding the illness and will have features of intestinal obstruction (vomiting, absolute constipation and abdominal distention). Ultrasound is the initial investigation of choice.
Intussusception Diagnosis and Management
Diagnosis is made mainly by ultrasound scan or contrast enema.
Therapeutic enemas can be used to try to reduce the intussusception. Contrast, water or air are pumped into the colon to force the folded bowel out of the bowel and into the normal position.
Surgical reduction may be necessary if enemas do not work.
If the bowel becomes gangrenous (due to a disruption of the blood supply) or the bowel is perforated, then surgical resection is required.
Intussusception Complications
Obstruction
Gangrenous bowel
Perforation
Death
Signs and Symptoms of Appendictis
- central abdominal pain, that moves down to the right iliac fossa (RIF) over time and eventually becomes localised in the RIF.
- Tenderness in McBurney’s point.
- Loss of appetite (anorexia)
- Nausea and vomiting
- Rovsing’s sign (palpation of the left iliac fossa causes pain in the RIF)
- Guarding on abdominal palpation
- Rebound tenderness is increased pain when quickly releasing pressure on the right iliac fossa
- Percussion tenderness is pain and tenderness when percussing the abdomen
- Rebound tenderness and percussion tenderness suggest peritonitis, caused by a ruptured appendix.
What is McBurney’s point.
This is a localised area one third the distance from the anterior superior iliac spine (ASIS) to the umbilicus.
Diagnosis of appendicitis
Diagnosis is based on the clinical presentation and raised inflammatory markers. Performing a CT scan can be useful in confirming the diagnosis, particularly where another diagnosis is more likely. An ultrasound scan is often used in female patients to exclude ovarian and gynaecological pathology.
When a patient has a clinical presentation suggestive of appendicitis but investigations are negative, the next step is to perform a diagnostic laparoscopy to visualise the appendix directly. The surgeon can then proceed to an appendicectomy during the same procedure if indicat
Key Differential Diagnoses of Appendicitis
- Ectopic Pregnancy
- Ovarian Cysts
- Meckel’s Diverticulum
- Mesenteric Adenitis
- Appendix Mass
Management of appendicitis
Removal of the inflamed appendix (appendicectomy) is the definitive management for acute appendicitis. Laparoscopic surgery is associated with fewer risks and faster recovery compared to open surgery (laparotomy).
Complications of Appendicectomy
- Bleeding, infection, pain and scars
- Damage to bowel, bladder or other organs
- Removal of a normal appendix
- Anaesthetic risks
- Venous thromboembolism (deep vein thrombosis or pulmonary embolism)
