Paediatrics Flashcards
What is the ductus venosus?
This shunt connects the umbilical vein to the inferior vena cava and allows blood to bypass the liver.
What is the foramen ovale?
This shunt connects the right atrium with the left atrium and allows blood to bypass the right ventricle and pulmonary circulation.
What is the ductus arteriosus?
This shunt connects the pulmonary artery with the aorta and allows blood to bypass the pulmonary circulation.
How does the foramen ovale close?
The first breaths the baby takes expands the alveoli, decreasing the pulmonary vascular resistance. The decrease in pulmonary vascular resistance causes a fall in pressure in the right atrium. At this point the left atrial pressure is greater than the right atrial pressure, which squashes the atrial septum to cause functional closure of the foramen ovale, similar to a closed valve with nothing flowing through it. This then gets sealed shut structurally after a few weeks and becomes the fossa ovalis.
How does ductus arteriosus close?
Prostaglandins are required to keep the ductus arteriosus open. Increased blood oxygenation causes a drop in circulating prostaglandins. This causes closure of the ductus arteriosus, which becomes the ligamentum arteriosum.
How does ductus venosus close?
Immediately after birth the ductus venosus stops functioning because the umbilical cord is clamped and there is no flow in the umbilical veins. The ductus venosus structurally closes a few days later and becomes the ligamentum venosum.
What are flow murmurs?
Innocent murmurs are also known as flow murmurs. They are very common in children. They are caused by fast blood flow through various areas of the heart during systole.
What are flow murmurs like?
Soft
Short
Systolic
Symptomless
Situation dependent, particularly if the murmur gets quieter with standing or only appears when the child is unwell or feverish
When might we refer a paediatric murmur?
Murmur louder than 2/6
Diastolic murmurs
Louder on standing
Other symptoms such as failure to thrive, feeding difficulty, cyanosis or shortness of breath
Give three causes of cyanotic heart disease
Heart defects that can cause a right-to-left shunt, and therefore cyanotic heart disease, are:
Ventricular septal defect (VSD)
Atrial septal defect (ASD)
Patent ductus arteriosus (PDA)
Transposition of the great arteries
What is Eisenmenger syndrome?
Patients with a VSD, ASD or PDA are usually not cyanotic. This is because the pressure in the left side of the heart is much greater than the right side, and blood will flow from the area of high pressure to the area of low pressure. This prevents a right-to-left shunt. If the pulmonary pressure increases beyond the systemic pressure blood will start to flow from right-to-left across the defect, causing cyanosis.
Will patients with transposition of the great arteries be cyanotic?
Patients with transposition of the great arteries will always have cyanosis because the right side of the heart pumps blood directly into the aorta and systemic circulation.
How does patent ductus arteriosus present OE?
More significant PDAs cause a normal first heart sound with a continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound, making the second heart sound difficult to hear.
What is the pathophysiology in PDA?
The pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery. This creates a left to right shunt where blood from the left side of the heart crosses to the circulation from the right side. This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right sided heart strain as the right ventricle struggles to contract against the increased resistance. Pulmonary hypertension and right sided heart strain lead to right ventricular hypertrophy. The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to left ventricular hypertrophy.
Give a complication of atrial septal defect
Stroke (clot moves from RA to LA)
May present with a DVT that develops a large stroke == small ASD
Give three causes of pan-systolic murmur
When you hear a pan-systolic murmur it is worth giving your top differential but also mention the other causes of this type of murmur. The causes of a pan-systolic murmur are ventricular septal defect, mitral regurgitation and tricuspid regurgitation.
How do we treat ASDs/VSDs?
Referral to paediatric cardiologist
VSDs can be corrected surgically using a transvenous catheter closure via the femoral vein or open heart surgery.
What is coarctation of the aorta? What usually causes it?
Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus. The severity of the coarctation (or narrowing) can vary from mild to severe. It is often associated with an underlying genetic condition, particularly Turners syndrome.
How do we manage severe coarctation of the aorta?
In cases of critical coarctation where there is a risk of heart failure and death shortly after birth Prostaglandin E is used keep the ductus arteriosus open while waiting for surgery. This allows some blood flow flow through the ductus arteriosus into the systemic circulation distal to the coarctation. Surgery is then performed to correct the coarctation and to ligate the ductus arteriosus.
What is tetralogy of fallot?
Ventricular septal defect (VSD)
Overriding aorta
Pulmonary valve stenosis
Right ventricular hypertrophy
What might be seen on CXR in ToF?
A chest xray may show the characteristic “boot shaped” heart due to right ventricular thickening. This not particularly useful diagnostically except during medical exams.
What are tet spells?
“Tet Spells” are intermittent symptomatic periods where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode. This happens when the pulmonary vascular resistance increases or the systemic resistance decreases. For example, if the child is physically exerting themselves they are generating a lot of carbon dioxide. Carbon dioxide is a vasodilator that causes systemic vasodilation and therefore reduces the systemic vascular resistance. Blood flow will choose the path of least resistance, so blood will be pumped from the right ventricle to the aorta rather than the pulmonary vessels, bypassing the lungs.
How do we manage ToF?
In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus. This allows blood to flow from the aorta back to the pulmonary arteries.
Total surgical repair by open heart surgery is the definitive treatment, however mortality from surgery is around 5%.
Prognosis depends on the severity, however it is poor without treatment. With corrective surgery, 90% of patients will live into adulthood.
What is Ebstein’s anomaly?
Ebstein’s anomaly is a congenital heart condition where the tricuspid valve is set lower in the right side of the heart (towards the apex), causing a bigger right atrium and a smaller right ventricle. This leads to poor flow from the right atrium to the right ventricle, and therefore poor flow to the pulmonary vessels. It is often associated with a right to left shunt across the atria via an atrial septal defect. When this happens blood bypasses the lungs, leading to cyanosis. It is also associated with Wolff-Parkinson-White syndrome.
What is TGA?
Transposition of the great arteries is a condition where the attachments of the aorta and the pulmonary trunk to the heart are swapped (“transposed”). This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels. In this scenario are two separate circulations that don’t mix: one travelling through the systemic system and right side of the heart and the other traveling through the pulmonary system and left side of the heart.
How does TGA present?
The defect is often diagnosed during pregnancy with antenatal ultrasound scans. Close monitoring is necessary during the pregnancy and arrangements should be made so that the woman gives birth in a hospital capable of managing the condition after birth.
Where the defect was not detected during pregnancy it will present with cyanosis at or within a few days of birth. A patent ductus arteriosus or ventricular septal defect can initially compensate by allowing blood to mix between the systemic circulation and the lungs, however within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain and sweating.
What are the signs of respiratory distress?
Raised respiratory rate
Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles
Intercostal and subcostal recessions
Nasal flaring
Head bobbing
Tracheal tugging
Cyanosis (due to low oxygen saturation)
Abnormal airway noises
What normally causes bronchiolitis?
Respiratory syncytial virus (RSV) is the most common cause.
What is pavilizumab?
Palivizumab is a monoclonal antibody that targets the respiratory syncytial virus. A monthly injection is given as prevention against bronchiolitis caused by RSV. It is given to high risk babies, such as ex-premature and those with congenital heart disease.
It is not a true vaccine as it does not stimulate the infant’s immune system. It provides passive protection by circulating the body until the virus is encountered, as which point it works as an antibody against the virus, activating the immune system to fight the virus. The levels of circulating antibodies decrease over time, which is why a monthly injection is required.
Describe the pathophysiology behind viral-induced wheeze
Viral-induced wheeze describes is an acute wheezy illness caused by a viral infection. Small children (typically under 3 years) have small airways. When these small airways encounter a virus (commonly RSV or rhinovirus) they develop a small amount of inflammation and oedema, swelling the walls of the airways and restricting the space for air to flow. This inflammation also triggers the smooth muscles of the airways to constrict, further narrowing the space in the airway.
How does viral-induced wheeze present OE?
Evidence of a viral illness (fever, cough and coryzal symptoms) for 1-2 days preceding the onset of:
Shortness of breath
Signs of respiratory distress
Expiratory wheeze throughout the chest
Neither viral-induced wheeze or asthma cause a focal wheeze. If you hear a focal wheeze be very cautious and investigate further for a focal airway obstruction such as an inhaled foreign body or tumour. These patients will require an urgent senior review.
How do we manage viral-induced wheeze?
Same as acute asthma.
Supplementary oxygen if required (i.e. oxygen saturations less than 94% or working hard)
Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate)
Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous)
Antibiotics only if a bacterial cause is suspected (e.g. amoxicillin or erythromycin)
Why are some parents worried about inhaled corticosteroid use in children?
A potential exam scenario is discussing inhaled steroids with a parent that is worried about potential side effects. A common question is whether they slow growth. There is evidence that inhaled steroids can slightly reduce growth velocity and can cause a small reduction in final adult height of up to 1cm when used long term (for more than 12 months). This effect was dose-dependent, meaning it was less of a problem with smaller doses.
How are spacers cleaned?
Spacers should be cleaned once a month. Avoid scrubbing the inside and allow them to air dry to avoid creating static. Static can interact with the mist and prevent the medication being inhaled.
What oxygen sats should be maintained in children?
92% and above
What causes croup?
Usually parainfluenza virus
What is croup?
It is an upper respiratory tract infection causing oedema in the larynx.
How does croup present?
Increased work of breathing
“Barking” cough, occurring in clusters of coughing episodes
Hoarse voice
Stridor
Low grade fever
How do we manage croup?
Most cases can be managed at home with simple supportive treatment (fluids and rest). During attacks it can help to sit the child up and comfort them. Measures should be taken to avoid spreading infection, for example hand washing and staying off school.
Oral dexamethasone is very effective. This is usually a single dose of 150 mcg/kg, which can be repeated if required after 12 hours. Prednisolone is sometimes used as an alternative where dexamethasone in not available (e.g. by GPs).
Stepwise options in severe croup to get control of symptoms:
Oral dexamethasone
Oxygen
Nebulised budesonide
Nebulised adrenalin
Intubation and ventilation
What normally causes epiglottitis?
Haemophilus influenza type B.
Why is epiglottitis now rare?
Epiglottitis is now rare due to the routine vaccination program, which vaccinates all children against haemophilus. You need to be extra cautious and have high suspicion in children that have not had vaccines.
How does epiglottitis present?
Patient presenting with a sore throat and stridor
Drooling
Tripod position, sat forward with a hand on each knee
High fever
Difficulty or painful swallowing
Muffled voice
Scared and quiet child
Septic and unwell appearance
What is seen on XR of the neck in epiglottitis?
Performing a lateral xray of the neck shows a characteristic “thumb sign” or “thumbprint sign”. This is a soft tissue shadow that looks like a thumb pressed into the trachea. This is caused by the oedematous and swollen epiglottis. Neck xrays are also useful for excluding a foreign body.
How do we manage epiglottitis?
Epiglottitis is an emergency and there is an immediate risk of the airway closing. A key point that is often talked about with epiglottitis is the importance of not distressing the patient, as this could prompt closure of the airway. If you see a child with suspected epiglottitis, leave them well alone and in their comfort zone. Don’t examine them and don’t make them upset. The most important thing is to alert the most senior paediatrician and anaesthetist available.
How do we treat epiglottitis when the airway is secure?
IV antibiotics (e.g. ceftriaxone)
Steroids (i.e. dexamethasone)
How does laryngomalacia present?
Laryngomalacia occurs in infants, peaking at 6 months. It presents with inspiratory stridor, a harsh whistling sound when breathing in. Usually this is intermittent and become more prominent when feeding, upset, lying on their back or during upper respiratory tract infections. Infants with laryngomalacia do not usually have associated respiratory distress.
What causes whooping cough?
Whooping cough is an upper respiratory tract infection caused by Bordetella pertussis (a gram negative bacteria). It is called “whooping cough”, because the coughing fits are so severe that the child is unable to take in any air between coughs and subsequently makes a loud whooping sound as they forcefully suck in air after the coughing finishes.
How do we protect patients against whooping cough?
Children and pregnant women are vaccinated against pertussis. The vaccine becomes less effective a few years after each dose.
How does pertussis present?
Pertussis typically starts with mild coryzal symptoms, a low grade fever and possibly a mild dry cough.
More severe coughing fits start after a week or more. These involve sudden and recurring attacks of coughing with cough free periods in between. This is described as a paroxysmal cough. Coughing fits are severe and keep building until the patient is completely out of breath. Patient typically produces a large, loud inspiratory whoop when the coughing ends. Patients can cough so hard they faint, vomit or even develop a pneumothorax. Bear in the mind that not all patients will “whoop” and infants with pertussis may present with apnoeas rather than a cough.
How do we diagnose whooping cough?
A nasopharyngeal or nasal swab with PCR testing or bacterial culture can confirm the diagnosis within 2 to 3 weeks of the onset of symptoms.
Where the cough has been present for more than 2 weeks patients can be tested for the anti-pertussis toxin immunoglobulin G. This is tested for in the oral fluid of children aged 5 to 16 and in the blood of those aged over 17.
How do we manage acute whooping cough?
Pertussis is a notifiable disease. Therefore Public Health need to be notified of each case.
Management typically involves simple supportive care. Vulnerable or acutely unwell patients, those under 6 months and patients with apnoeas, cyanosis or patients with severe coughing fits may need to be admitted. Measures to prevent spread are important, such as avoiding contact with vulnerable people, disposing of tissues and careful hand hygiene.
Macrolide antibiotics such as azithromycin, erythromycin and clarithromycin can be beneficial in the early stages (within the first 21 days) or vulnerable patients. Co-trimoxazole is an alternative to macrolides.
How do we manage vulnerable patients who have come into contact with whooping cough?
Close contacts with an infected patient are given prophylactic antibiotics if they are in a vulnerable group, for example pregnant women, unvaccinated infants or healthcare workers that have contact with children or pregnant women.
Give a key complication of whooping cough
Bronchiectasis
How do we prevent chronic lung disease of prematurity?
There are several measure that can be taken to minimise the risk of CLDP. Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at less than 36 weeks gestation can help speed up the development of the fetal lungs before birth and reduce the risk of CLDP.
Once the neonate is born the risk of CLDP can be reduced by:
Using CPAP rather than intubation and ventilation when possible
Using caffeine to stimulate the respiratory effort
Not over-oxygenating with supplementary oxygen
How do we manage chronic lung disease of prematurity?
A formal sleep study to assess their oxygen saturations during sleep supports the diagnosis and guides management. Babies may be discharged from the neonatal unit on a low dose of oxygen to continue at home, for example 0.01 litres per minute via nasal cannula. They are followed up to wean the oxygen level over the first year of life.
Babies with CLDP require protection against respiratory syncytial virus (RSV) to reduce the risk and severity of bronchiolitis. This involves monthly injections of a monoclonal antibody against the virus called palivizumab. This is very expensive (around £500 per injection) so is reserved for babies meeting certain criteria.
What is the mutation in cystic fibrosis?
Cystic fibrosis (CF) is an autosomal recessive genetic condition affecting mucus glands. It is caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7.
What are the consequences of the mutation in CF?
Thick pancreatic and biliary secretions that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract
Low volume thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility
How do we screen for CF?
Bloodspot test
How might we diagnose CF with a patients stool?
Meconium ileus is often the first sign of cystic fibrosis. The first stool that a baby passes is called meconium. This is usually black and should be passed within 24 hours of birth. In about 20% of babies with CF, the meconium is thick and sticky, causing it to get stuck and obstruct the bowel. This is called meconium ileus, and is practically pathognomonic for cystic fibrosis. This presents as not passing meconium within 24 hours, abdominal distention and vomiting.
What are the symptoms of CF?
Chronic cough
Thick sputum production
Recurrent respiratory tract infections
Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes
Abdominal pain and bloating
Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat
Poor weight and height gain (failure to thrive)
What are the signs of CF?
Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheezes on auscultation
Abdominal distention
What is the gold standard test for CF?
The sweat test. patch of skin is chosen for the test, typically on the arm or leg. Pilocarpine is applied to the skin on this patch. Electrodes are placed either side of the patch and a small current is passed between the electrodes. This causes the skin to sweat. The sweat is absorbed with lab issued gauze or filter paper and sent to the lab for testing for the chloride concentration.
What is the diagnostic concentration of chloride in CF?
The diagnostic chloride concentration for cystic fibrosis is more than 60mmol/l.
How do we manage CF?
Chest physiotherapy several times a day is essential to clear mucus and reduce the risk of infection and colonisation
Exercise improves respiratory function and reserve, and helps clear sputum
High calorie diet is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy
CREON tablets to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes)
Prophylactic flucloxacillin tablets to reduce the risk of bacterial infections (particularly staph aureus)
Treat chest infections when they occur
Bronchodilators such as salbutamol inhalers can help treat bronchoconstriction
Nebulised DNase (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear
Nebulised hypertonic saline
Vaccinations including pneumococcal, influenza and varicella
How does primary ciliary dyskinesia present?
Kartagner’s triad describes the three key features of PCD. Not all patients will have all three features. These are:
Paranasal sinusitis
Bronchiectasis
Situs Inversus
What is situs inversus?
Situs inversus is a condition where all the internal (visceral) organs are mirrored inside the body. Therefore the heart is on the right, the stomach is on the right and the liver is on the left. Dextrocardia is when only the heart is reversed.
25% of patients with situs inversus will have primary ciliary dyskinesia. 50% of patients with primary ciliary dyskinesia have situs inversus.
Situs inversus on its own does not cause any problems, and patients can expect to live a normal life. A small number have associated congenital heart disease, such as transposition of the great arteries.
How does intussusception present?
Colicky non-specific abdominal pain with redcurrant jelly stools
Give a preventative medication for abdominal migraine
Pizotifen, a serotonin agonist, 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.
What leads to 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.
Give four red flags in a constipation history?
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)
How do we manage idiopathic constipation?
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.
Give three signs of problematic reflux
Chronic cough
Hoarse cry
Distress, crying or unsettled after feeding
Reluctance to feed
Pneumonia
Poor weight gain
Give red flags seen in reflux
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
How do we manage simple reflux?
Small, frequent meals
Burping regularly to help milk settle
Not over-feeding
Keep the baby upright after feeding (i.e. not lying flat)
How do we manage more problematic reflux?
Gaviscon mixed with feeds
Thickened milk or formula (specific anti-reflux formulas are available)
Proton pump inhibitors (e.g., omeprazole) where other methods are inadequate
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. The key features are:
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
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 might be seen OE in pyloric stenosis?
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.
How do we diagnose and manage pyloric stenosis?
Diagnosis is made using an abdominal ultrasound to visualise the thickened pylorus.
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.
Give four differentials of loose stool in children
Infection (gastroenteritis)
Inflammatory bowel disease
Lactose intolerance
Coeliac disease
Cystic fibrosis
Toddler’s diarrhoea
Irritable bowel syndrome
Medications (e.g. antibiotics)
How does shigella present? How does it spread?
Shigella is spread by faeces contaminating drinking water, swimming pools and food. The incubation period is 1 to 2 days and symptoms usually resolve within 1 week without treatment. It causes bloody diarrhoea, abdominal cramps and fever. Shigella can produce the Shiga toxin and cause haemolytic uraemic syndrome. Treatment of severe cases is with azithromycin or ciprofloxacin.
Which antibodies are raised in Coeliac’s disease?
Anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA)
How do we treat Coeliac’s 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.
How does Crohn’s present?
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)
How does Ulcerative Colitis present?
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
What is the gold standard ix for IBD?
Endoscopy (OGD and colonoscopy) with biopsy
How do we maintain remission in Crohn’s?
Azathioprine
Mercaptopurine
When in surgery indicated in Crohn’s?
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.
How do we induce/maintain remission in UC?
Induce:
First line: aminosalicylate (e.g. mesalazine oral or rectal)
Second line: corticosteroids (e.g. prednisolone)
Maintain: Aminosalicylate (e.g. mesalazine oral or rectal)
Azathioprine
Mercaptopurine
Which surgery can be used in UC?
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.
How does biliary atresia present?
Biliary atresia presents shortly after birth with significant jaundice due to high conjugated bilirubin levels. Suspect biliary atresia in babies with a persistent jaundice, lasting more than 14 days in term babies and 21 days in premature babies
How do we manage biliary atresia?
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.
How do we differentiate between biliary atresia and breast milk jaundice?
There are many causes of jaundice in the neonate. The majority of cases are benign (e.g. breast milk jaundice), however more serious causes such as biliary atresia need to be excluded by measuring the conjugated bilirubin level.
Give four 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
How might bowel sounds sound in intestinal obstruction?
Abnormal bowel sounds. These can be high pitched and “tinkling” early in the obstruction and absent later.
What is the pathophysiology in 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. No peristalsis.
The key pathophysiology in Hirschsprung’s disease is the absence of parasympathetic ganglion cells. During fetal development these cells start higher in the GI tract and gradually migrate down to the distal colon and rectum. Hirschsprung’s occurs when the parasympathetic ganglion cells do not travel all the way down the colon, and a section of colon at the end is left without these parasympathetic ganglion cells.
How do we investigate 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 (Hirschsprung-Associated Enterocolitis).
How do we manage Hirschsprung’s disease?
Definitive management is by surgical removal of the aganglionic section of bowel. Most patients will live a normal life after corrective surgery, although they can have long term disturbances in bowel function and may be left with some degree of incontinence.
How do we manage intussusception?
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.
Where is the tenderness in appendicitis?
McBurney’s point
Give two signs of peritonitis.
Rebound tenderness and percussion tenderness suggest peritonitis, caused by a ruptured appendix.
What is Rovsing’s sign?
Rovsing’s sign (palpation of the left iliac fossa causes pain in the RIF)
How do we diagnose 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 indicated.
Which electrolyte is most commonly deranged in DKA?
Insulin normally drives potassium into cells. Without insulin, potassium is not added to and stored in cells. Serum potassium can be high or normal in diabetic ketoacidosis, as the kidneys continue to balance blood potassium with the potassium excreted in the urine, however total body potassium is low because no potassium is stored in the cells. When treatment with insulin starts, patients can develop severe hypokalaemia (low serum potassium) very quickly, and this can lead to fatal arrhythmias.
How do we treat cerebral oedema in DKA?
Management options for cerebral oedema are slowing IV fluids, IV mannitol and IV hypertonic saline. These should be guided by an experienced paediatrician.
How do we diagnose DKA?
Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
Ketosis (i.e. blood ketones > 3 mmol/l)
Acidosis (i.e. pH < 7.3)
What is primary adrenal insufficiency?
Addison’s disease refers a the specific condition where the adrenal glands have been damaged, resulting in reduced secretion of cortisol and aldosterone. This is also called primary adrenal insufficiency. The most common cause is autoimmune.
What is secondary adrenal insufficiency?
Secondary adrenal insufficiency is a caused by inadequate ACTH stimulating the adrenal glands, resulting in low levels of cortisol being released. This is the result of loss or damage to the pituitary gland. This can be due to congenital underdevelopment (hypoplasia) of the pituitary gland, surgery, infection, loss of blood flow or radiotherapy.
What is tertiary adrenal insufficiency?
Tertiary adrenal insufficiency is the result of inadequate CRH release by the hypothalamus. This is usually the result of patients being on long term oral steroids (for more than 3 weeks) causing suppression of the hypothalamus. When the exogenous steroids are suddenly withdrawn the hypothalamus does not “wake up” fast enough and endogenous steroids are not adequately produced. Therefore, long term steroids should be tapered slowly to allow time for the adrenal axis to regain normal function.
How does adrenal insufficiency present in older children?
Nausea and vomiting
Poor weight gain or weight loss
Reduced appetite (anorexia)
Abdominal pain
Muscle weakness or cramps
Developmental delay or poor academic performance
Bronze hyperpigmentation to skin in Addison’s caused by high ACTH levels. ACTH stimulates melanocytes.
What is the short synacthen test used for?
The short synacthen test can be used to confirm adrenal insufficiency. It is ideally performed in the morning when the adrenal glands are the most “fresh”. The test involves giving synacthen, which is synthetic ACTH. The blood cortisol is measured at baseline, 30 and 60 minutes after administration. The synthetic ACTH will stimulate healthy adrenal glands to produce cortisol. The cortisol level should at least double in response to synacthen. A failure of cortisol to rise (less than double the baseline) indicates primary adrenal insufficiency (Addison’s disease).
When do we use hydrocortisone vs fludrocortisone in adrenal insufficiency?
Hydrocortisone is a glucocorticoid hormone used to replace cortisol. Fludrocortisone is a mineralocorticoid hormone used to replace aldosterone if aldosterone is also insufficient.
What are the sick day rules?
The dose of steroid needs to be increased and given more regularly until the illness has completely resolved.
Blood sugar needs to be monitored closely and they need to eat foods containing carbohydrates regularly (higher risk of hypoglycaemia).
With diarrhoea or vomiting, they need an IM injection of steroid at home and likely required admission for IV steroids.
How does Addisonian crisis present?
Reduced consciousness
Hypotension
Hypoglycaemia, hyponatraemia and hyperkalaemia
How do we manage Addisonian crisis?
Intensive monitoring if they are acutely unwell
Parenteral steroids (i.e. IV hydrocortisone)
IV fluid resuscitation
Correct hypoglycaemia
Careful monitoring of electrolytes and fluid balance
What is the main glucocorticoid hormone?
Cortisol
What do the glucocorticoid hormones do?
Glucocorticoid hormones act to help the body deal with stress, raise blood glucose, reduce inflammation and suppress the immune system. The level of cortisol fluctuates during the day, with higher levels in the morning and during times of stress.
What stimulates glucocorticoid release?
ACTH from the anterior pituitary
What do the mineralocorticoid hormones do?
Mineralocorticoid hormones act on the kidneys to control the balance of salt and water in the blood. Aldosterone acts to increase sodium and decrease potassium in the blood.
What is the main mineralocorticoid hormone?
Aldosterone
What stimulates mineralocorticoid release?
It is released by the adrenal gland in response to renin. Aldosterone acts on the kidneys to increase sodium reabsorption into the blood and increase potassium secretion into the urine.
What does the 21-hydroxylase enzyme do?
21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme. In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.
How do we manage 21-hydroxylase deficiency?
Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency
Aldosterone replacement, usually with fludrocortisone
Female patients with “virilised” genitals may require corrective surgery
How does growth hormone deficiency present?
Growth hormone deficiency may present at birth or in neonates with:
Micropenis (in males)
Hypoglycaemia
Severe jaundice
Older infants and children can present with:
Poor growth, usually stopping or severely slowing from age 2-3
Short stature
Slow development of movement and strength
Delayed puberty
How do we investigate GH deficiency?
Growth hormone stimulation tests involve measuring the response to medications that normally stimulate the release of growth hormone. Examples of these medications include glucagon, insulin, arginine and clonidine. Growth hormone levels are monitored regularly for 2-4 hours after administering the medication to assess the hormonal response. In growth hormone deficiency there will be a poor response to stimulation.
How does hypothyroidism present?
Fatigue and low energy
Poor growth
Weight gain
Poor school performance
Constipation
Dry skin and hair loss
What is the most common cause of acquired hypothyroidism?
Acquired hypothyroidism is where a child or adolescent develops an underactive thyroid gland when previously it was functioning normally.
The most common cause of acquired hypothyroidism is autoimmune thyroiditis, also known as Hashimoto’s thyroiditis. This causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland. It is associated with antithyroid peroxidase (anti-TPO) antibodies and antithyroglobulin antibodies. There is an association with other autoimmune conditions, particularly type 1 diabetes and coeliac disease.
How do we diagnose acute pyelonephritis?
A temperature greater than 38°C
Loin pain or tenderness
What is the ideal urine sample for a urine dip?
The ideal urine sample is a clean catch sample, avoiding contamination.
What is a DMSA scan used for?
DMSA scans should be used 4 – 6 months after the illness to assess for damage from recurrent or atypical UTIs. This involves injecting a radioactive material (DMSA) and using a gamma camera to assess how well the material is taken up by the kidneys. Where there are patches of kidney that have not taken up the material, this indicates scarring that may be the result of previous infection.
How do we diagnose vesico-ureteric reflux?
Vesico-ureteric reflux (VUR) is where urine has a tendency to flow from the bladder back into the ureters. This predisposes patients to developing upper urinary tract infections and subsequent renal scarring. This is diagnosed using a micturating cystourethrogram (MCUG).
How do we manage VUR?
Avoid constipation
Avoid an excessively full bladder
Prophylactic antibiotics
Surgical input from paediatric urology
What is a MCUG?
It involves catheterising the child, injecting contrast into the bladder and taking a series of xray films to determine whether the contrast is refluxing into the ureters. Children are usually given prophylactic antibiotics for 3 days around the time of the investigation.
Why is vulvovaginitis much less common after puberty?
Oestrogen helps keep the skin and vaginal mucosa healthy and resistant to infection.
How do we manage vulvovaginitis?
Avoid washing with soap and chemicals
Avoid perfumed or antiseptic products
Good toilet hygiene, wipe from front to back
Keeping the area dry
Emollients, such as sudacrem can sooth the area
Loose cotton clothing
Treating constipation and worms where applicable
Avoiding activities that exacerbate the problem
What causes nephrotic syndrome?
Nephrotic syndrome occurs when the basement membrane in the glomerulus becomes highly permeable to protein, allowing proteins to leak from the blood into the urine. It is most common between the ages of 2 and 5 years.
How does nephrotic syndrome present?
It presents with frothy urine, generalised oedema and pallor.
Nephrotic syndrome features a classic triad of:
Low serum albumin
High urine protein content (>3+ protein on urine dipstick)
Oedema
Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins
High blood pressure
Hyper-coagulability, with an increased tendency to form blood clots
How do we manage minimal change disease?
Management of minimal change disease is with corticosteroids (i.e. prednisolone).
What is the triad in nephritic syndrome?
Reduction in kidney function
Haematuria: invisible or visible amounts of blood in the urine
Proteinuria: although less than in nephrotic syndrome
What is post-streptococcal glumerulonephritis?
Post-streptococcal glomerulonephritis occurs 1 – 3 weeks after a β-haemolytic streptococcus infection, such as tonsillitis caused by Streptococcus pyogenes. Immune complexes made up of streptococcal antigens, antibodies and complement proteins get stuck in the glomeruli of the kidney and cause inflammation. This inflammation leads to an acute deterioration in renal function, causing an acute kidney injury.
Consider a diagnosis of post-streptococcal glomerulonephritis where there is evidence of recent tonsillitis caused by streptococcus. This could be a history of tonsillitis, positive throat swab results and anti-streptolysin antibody titres found on a blood test.
Management is supportive and around 80% of patients will make a full recovery. In some cases patients can develop a progressive worsening of their renal function. They may need treatment with antihypertensive medications and diuretics if they develop complications such as hypertension and oedema.
What is Berger’s disease?
IgA nephropathy is also known as Berger’s disease. This condition is related to Henoch-Schonlein Purpura, which is an IgA vasculitis. IgA deposits in the nephrons of the kidney causes inflammation (nephritis).
What is seen on investigation in IgA nephropathy?
When a renal biopsy is taken the histology will show “IgA deposits and glomerular mesangial proliferation”.
How do we manage IgA nephropathy?
Management involves supportive treatment of the renal failure and immunosuppressant medications such as steroids and cyclophosphamide to slow the progression of the disease.
What is the triad in HUS?
Haemolytic anaemia: anaemia caused by red blood cells being destroyed
Acute kidney injury: failure of the kidneys to excrete waste products such as urea
Thrombocytopenia: low platelet count
When should primary nocturnal enuresis resolve by?
Five years old
How do we define secondary nocturnal enuresis?
Secondary nocturnal enuresis is where a child begins wetting the bed when they have previously been dry for at least 6 months.
Give three causes of secondary nocturnal enuresis
Urinary tract infection
Constipation
Type 1 diabetes
New psychosocial problems (e.g. stress in family or school life)
Maltreatment
What can be used for short term treatment of nocturnal enuresis
Desmopressin is an analogue of vasopressin (also known as anti-diuretic hormone). It reduces the volume of urine produced by the kidneys. It is taken at bedtime with the intention of reducing nocturnal enuresis.
When do we use oxybutynin/
Oxybutynin is an anticholinergic medication that reduces the contractility of the bladder. It can be helpful where there is an overactive bladder causing urge incontinence.
What causes autosomal recessive polycystic kidney disease? When is it usually diagnosed?
Autosomal recessive polycystic kidney disease (ARPKD) presents in neonates and is usually picked up on antenatal ultrasound scans. It is the result of a mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6. This gene codes for the fibrocystin/polyductin protein complex (FPC), which is responsible for the creation of tubules and the maintenance of healthy epithelial tissue in the kidneys, liver and pancreas.
How is ARPKD usually diagnosed?
ARPKD usually presents in the antenatal period with oligohydramnios and polycystic kidneys seen on antenatal scans. Oligohydramnios is a lack of amniotic fluid caused by reduced urine production by the fetus. A lack of amniotic fluid leads to Potter syndrome, which is characterised by dysmorphic features such as underdeveloped ear cartilage, low set ears, a flat nasal bridge and abnormalities of the skeleton. The oligohydramnios leads to underdeveloped fetal lungs (pulmonary hypoplasia), resulting in respiratory failure shortly after birth. Additionally, large cystic kidneys can take up so much space in the abdomen it becomes hard for the neonate to breath adequately. Patients may require renal dialysis within the first few days of life. Most patients develop end stage renal failure before reaching adulthood.
How does Wilms tumour present?
Consider a Wilms tumour in a child under the age of 5 years presenting with a mass in the abdomen. The parents may have noticed the mass, or they may present with signs and symptoms of:
Abdominal pain
Haematuria
Lethargy
Fever
Hypertension
Weight loss
How do we diagnose Wilms tumours?
The initial investigation is an ultrasound of the abdomen to visualise the kidneys. A CT or MRI scan can be used to stage the tumour. Biopsy to identify the histology is required to make a definitive diagnosis.
How do we treat Wilms tumour?
Treatment involves surgical excision of the tumour along with the affected kidney (nephrectomy).
Adjuvant treatment refers to treatment that is given after the initial management with surgery. This depends on the stage of the disease, the histology and whether it has spread. The main options are:
Adjuvant chemotherapy
Adjuvant radiotherapy
What is a posterior urethral valve?
A posterior urethral valve is where there is tissue at the proximal end of the urethra (closest to the bladder) that causes obstruction of urine output. It occurs in newborn boys. The obstruction to the outflow of urine creates a back pressure into the bladder, ureters and up to the kidneys, causing hydronephrosis.
How does posterior urethral valve present?
It can vary in severity. Mild cases may be asymptomatic or present with:
Difficulty urinating
Weak urinary stream
Chronic urinary retention
Palpable bladder
Recurrent urinary tract infections
Impaired kidney function
How do we investigate posterior urethral valve?
Severe cases may be picked up on antenatal scans as oligohydramnios and hydronephrosis.
To investigate cases presenting after birth, for example young boys presenting with urinary tract infections:
Abdominal ultrasound may show an enlarged, thickened bladder and bilateral hydronephrosis
Micturating cystourethrogram (MCUG) shows the location of the extra urethral tissue and reflux of urine back into the bladder
Cystoscopy involves a camera inserted into the urethra to get a detailed view of the extra tissue. Cystoscopy can be used to ablate or remove the extra tissue.
How do we treat posterior urethral valve?
Definitive management is by ablation or removal of the extra urethral tissue, usually during cystoscopy.
How do we treat undescended testes?
Watching and waiting is appropriate in newborns. In most cases the testes will descend in the first 3 – 6 months. If they have not descended by 6 months they should be seen by a paediatric urologist. Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.
What are retractile testes?
It is normal in boys that have not reached puberty for the testes to move out of the scrotum and into the inguinal canal when it is cold or the cremasteric reflex is activated. This is described as retractile testicles and is considered a normal variant. This usually resolves as they go through puberty and the testes settle in the scrotum. Occasionally they may fully retract or fail to descend and require surgical correction with orchidopexy.
How do we manage hydrocele?
Ultrasound is a useful investigation for confirming the diagnosis and excluding other causes.
Simple hydroceles will usually resolve within 2 years without having any lasting negative effects. Parents can be reassured and followed up routinely. They may require surgery if they are associated with other problems, such as a hernia.
Communicating hydroceles can be treated with a surgical operation to remove or ligate the connection between the peritoneal cavity and the hydrocele (the processus vaginalis).
Which vitamin are newborn babies deficient of, and how do we treat this?
Babies are born with a deficiency of vitamin K. Vitamin K is an important part of normal blood clotting. Standard practice is to give all babies an intramuscular injection of vitamin K in the thigh shortly after birth. This can have the helpful side effect of stimulating the baby to cry, which helps expand the lungs. Vitamin K helps to prevent bleeding, particularly intracranial, umbilical stump and gastrointestinal bleeding. Alternatively, vitamin K can be given orally, however this takes longer to act and requires doses at birth, 7 days and 6 weeks.
When do we do blood spot screening?
It is taken on day 5 (day 8 at the latest) after consent from the parent. A heel prick is used to provide drops of blood. The screening card requires four separate drops. This screens for nine congenital conditions:
Results take 6-8 weeks to come back
What is caput succedaneum?
Caput succedaneum (caput) involves fluid (oedema) collecting on the scalp, outside the periosteum. Caput is caused by pressure to a specific area of the scalp during a traumatic, prolonged or instrumental delivery. The periosteum is a layer of dense connective tissue that lines the outside of the skull and does not cross the sutures (the gaps in the baby’s skull). The fluid is outside the periosteum, which means it is able to cross the suture lines. There is usually no, or only mild, discolouration of the skin. It does not require any treatment and will resolve within a few days.
What is a cephalohaematoma?
A cephalohaematoma is a collection of blood between the skull and the periosteum. It is caused by damage to blood vessels during a traumatic, prolonged or instrumental delivery. It can be described as a traumatic subperiosteal haematoma.
The blood is below the periosteum, therefore the lump does not cross the suture lines of the skull. This is an important way of distinguishing caput succedaneum from cephalohaematoma. Additionally, the blood can cause discolouration of the skin in the affected area.
Usually a cephalohaematoma does not required any intervention and resolves without treatment within a few months. There is a risk of anaemia and jaundice due to the blood that collects within the haematoma and breaks down, releasing bilirubin. For this reason the baby should be monitored for anaemia, jaundice and resolution of the haematoma.
What is Erbs palsy?
An Erbs palsy is the result of injury to the C5/C6 nerves in the brachial plexus during birth. It is associated with shoulder dystocia, traumatic or instrumental delivery and large birth weight.
Damaged to the C5/C6 nerves leads to weakness of shoulder abduction and external rotation, arm flexion and finger extension. This leads to the affected arm having a “waiters tip” appearance:
Internally rotated shoulder
Extended elbow
Flexed wrist facing backwards (pronated)
Lack of movement in the affected arm
Function normally returns spontaneously within a few months. If function does not return then they may required neurosurgical input.
What is the most common cause of neonatal sepsis?
The organism to remember for your exams is group B strep (GBS). This is a common bacteria found in the vagina. It does not cause any problems for the mother, but can be transferred to the baby during labour and cause neonatal sepsis. Prophylactic antibiotics during labour are used to reduce the risk of transfer if the mother is found to have GBS in their vagina during pregnancy.
What is the Sarnat Staging used for?
Hypoxic-Ischaemic Encephalopathy Grades
What is mild HIE?
Poor feeding, generally irritability and hyper-alert
Resolves within 24 hours
Normal prognosis
What is moderate HIE?
Poor feeding, lethargic, hypotonic and seizures
Can take weeks to resolve
Up to 40% develop cerebral palsy
What is severe HIE?
Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes
Up to 50% mortality
Up to 90% develop cerebral palsy
What is therapeutic hypothermia?
Babies near or at term considered to have HIE can benefit from therapeutic hypothermia. Therapeutic hypothermia involves actively cooling the core temperature of the baby according to a strict protocol. The baby is transferred to neonatal ICU and actively cooled using cooling blankets and a cooling hat. The temperature is carefully monitored with a target of between 33 and 34°C, measured using a rectal probe. This is continued for 72 hours, after which the baby is gradually warmed to a normal temperature over 6 hours.
The intention of therapeutic hypothermia is to reduce the inflammation and neurone loss after the acute hypoxic injury in HIE. It reduces the risk of cerebral palsy, developmental delay, learning disability, blindness and death.
When is jaundice always pathological?
In the first 24 hours of life
Define prolonged jaundice
Jaundice is “prolonged” when it lasts longer than would be expected in physiological jaundice. This is:
More than 14 days in full term babies
More than 21 days in premature babies
What does the direct coombs test test for?
Haemolysis
What is kernicterus?
Kernicterus is a type of brain damage caused by excessive bilirubin levels. It is the main reason we treat neonatal jaundice to keep bilirubin levels below certain thresholds.
Bilirubin can cross the blood-brain barrier. Excessive bilirubin causes direct damage to the central nervous system. Kernicterus presents with a less responsive, floppy, drowsy baby with poor feeding. The damage to the nervous system is permeant, causing cerebral palsy, learning disability and deafness. Kernicterus is now rare due to effective treatment of jaundice.
When do we give IV magnesium sulphate to mothers?
Can be offered before 34 weeks gestation and helps protect the baby’s brain
How do we manage apnoea in neonates?
Neonatal units attach apnoea monitors to premature babies. These make a sound when an apnoea is occurring. Tactile stimulation is used to prompt the baby to restart breathing. Intravenous caffeine can be used to prevent apnoea and bradycardia in babies with recurrent episodes.
Episodes will settle as as the baby grows and develops.
What is the pathophysiology in retinopathy of prematurity?
Retinal blood vessel development starts at around 16 weeks and is complete by 37 – 40 weeks gestation. The blood vessels grow from the middle of the retina to the outer area. This vessel formation is stimulated by hypoxia, which is a normal condition in the retina during pregnancy. When the retina is exposed to higher oxygen concentrations in a preterm baby, particularly with supplementary oxygen during medical care, the stimulant for normal blood vessel development is removed.
When the hypoxic environment recurs, the retina responds by producing excessive blood vessels (neovascularisation), as well as scar tissue. These abnormal blood vessels may regress and leave the retina without a blood supply. The scar tissue may cause retinal detachment.
How do we diagnose necrotising enterocolitis?
Abdominal xray is the investigation of choice for diagnosis.
Dilated loops of bowel
Bowel wall oedema (thickened bowel walls)
Pneumatosis intestinalis is gas in the bowel wall and is a sign of NEC
Pneumoperitoneum is free gas in the peritoneal cavity and indicates perforation
Gas in the portal veins
How do we manage neonatal abstinence syndrome?
Babies are kept in hospital with monitoring on a NAS chart for at least 3 days (48 hours for SSRI antidepressants) to monitor for withdrawal symptoms. A urine sample can be collected from the neonate to test for substances. The neonate should be supported in a quiet and dim environment with gentle handling and comforting.
Medical treatment options for moderate to severe symptoms are:
Oral morphine sulphate for opiate withdrawal
Oral phenobarbitone for non-opiate withdrawal
Neonates should be gradually weaned off oral treatment. SSRI withdrawal does not typically require or benefit from medical treatment.
How does congenital rubella present?
The features of congenital rubella syndrome to be aware of are:
Congenital cataracts
Congenital heart disease (PDA and pulmonary stenosis)
Learning disability
Hearing loss
When do we vaccinate against rubella?
Women planning to become pregnant should ensure they have had the MMR vaccine. If in doubt they can be tested for rubella immunity. If they do not have antibodies to rubella they can be vaccinated with 2 doses of the MMR 3 months apart.
Pregnant women should not receive the MMR vaccination, as this is a live vaccine. Non-immune women should be offered the vaccine after giving birth.
How do we manage exposure to chickenpox in pregnancy?
If the pregnant women has previously had chickenpox, they are safe
If they are not sure about their immunity, test the VZV IgG levels. If positive, they are safe.
If they are not immune, they can be treated with IV varicella immunoglobulins as prophylaxis against developing chickenpox. This should be given within 10 days of exposure.
If the chickenpox rash starts in pregnancy, they may be treated with oral aciclovir if they present within 24 hours and are more than 20 weeks gestation.
What is the triad in congenital toxoplasmosis?
Intracranial calcification
Hydrocephalus
Chorioretinitis
What is SIDS?
Sudden infant death syndrome (SIDS) is a sudden unexplained death in an infant. It is sometimes referred to as “cot death”. This usually occurs within the first six months of life.
How do we minimise the risk of SIDS?
Put the baby on their back when not directly supervised
Keep their head uncovered
Place their feet at the foot of the bed to prevent them sliding down and under the blanket
Keep the cot clear of lots of toys and blankets
Maintain a comfortable room temperature (16 – 20 ºC)
Avoid smoking. Avoid handling the baby after smoking (smoke stays on clothes).
Avoid co-sleeping, particularly on a sofa or chair
If co-sleeping avoid alcohol, drugs, smoking, sleeping tablets or deep sleepers
How do we support families affected by SIDS?
The lullaby trust is a great charity to help support families affected. Bereavement services and bereavement counselling should be available for affected families.
What is the care of next infant team?
The CONI team supports parents with their next infant after a sudden infant death. This provides extra support and home visits, resuscitation training and access to equipment such as movement monitors that alarm if the baby stops breathing for a prolonged period.
How much weight can babies lose in their first five days of life?
It is acceptable for breast fed babies to loose up to 10% and formula fed babies to loose up to 5% of their body weight by day 5 of life. They should be back at their birth weight by day 10. If they loose more weight than this or do not regain their birth weight by two weeks, they need admission to hospital and assessment for possible causes.
What is the most common cause of weight loss in babies?
Dehydration
How and when do we wean babies off breast milk?
Weaning refers to the gradual transition from milk to normal food. Weaning usually starts around 6 months of age. It starts with pureed foods that are easy to palate, swallow and digest, for example pureed fruit and “baby rice”.
Over 6 months this will progress towards a healthy diet resembling an older child, supplemented with milk and snacks to 1 year of age.
How do we define failure to thrive?
One or more centile spaces if their birthweight was below the 9th centile
Two or more centile spaces if their birthweight was between the 9th and 91st centile
Three or more centile spaces if their birthweight was above the 91st centile
Centile spaces are the distance between two centile lines on a growth chart. The distance between the 75th and 50th centile lines is a centile space. A weight that falls this distance is a drop across one centile space.
What can cause FTT?
Inadequate nutritional intake
Difficulty feeding
Malabsorption
Increased energy requirements
Inability to process nutrition
What is a key feature of constitutional delay in growth and puberty?
A key feature of CDGP is delayed bone age. It is possible to estimate the age of a child using xray images of their wrist and hand by assessing the size and shape of the bones and the growth plates. Children with CDGP will have a delayed bone age compared with the reference for their age and sex.
Give three causes of gross motor delay
Cerebral palsy
Ataxia
Myopathy
Spina bifida
Visual impairment
Give three causes of fine motor delay
Dyspraxia
Cerebral palsy
Muscular dystrophy
Visual impairment
Congenital ataxia (rare)
Give three causes of language delay
Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking
Hearing impairment
Learning disability
Neglect
Autism
Cerebral palsy
What is dysgraphia?
Dysgraphia refers to a specific difficulty in writing.
What is dyspraxia?
Dyspraxia, also known as developmental co-ordination disorder, refers to a specific type of difficulty in physical co-ordination. It is more common in boys. It presents with delayed gross and fine motor skills and a child that appears clumsy.
