Paediatrics Flashcards

Question

What is TGA?

Answer 1

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.

Answer 2

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.

Answer 3

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

Answer 4

Respiratory syncytial virus (RSV) is the most common cause.

Answer 5

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.

Answer 6

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.

Answer 7

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.

Answer 8

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)

Answer 9

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.

Answer 10

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.

Answer 11

92% and above

Answer 12

Usually parainfluenza virus

Answer 13

It is an upper respiratory tract infection causing oedema in the larynx.

Answer 14

Increased work of breathing “Barking” cough, occurring in clusters of coughing episodes Hoarse voice Stridor Low grade fever

Answer 15

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

Answer 16

Haemophilus influenza type B.

Answer 17

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.

Answer 18

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

Answer 19

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.

Answer 20

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.

Answer 21

IV antibiotics (e.g. ceftriaxone) Steroids (i.e. dexamethasone)

Answer 22

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.

Answer 23

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.

Answer 24

Children and pregnant women are vaccinated against pertussis. The vaccine becomes less effective a few years after each dose.

Answer 25

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.

Answer 26

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.

Answer 27

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.

Answer 28

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.

Answer 29

Bronchiectasis

Answer 30

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

Answer 31

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.

Answer 32

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.

Answer 33

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

Answer 34

Bloodspot test

Answer 35

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.

Answer 36

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)

Answer 37

Low weight or height on growth charts Nasal polyps Finger clubbing Crackles and wheezes on auscultation Abdominal distention

Answer 38

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.

Answer 39

The diagnostic chloride concentration for cystic fibrosis is more than 60mmol/l.

Answer 40

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

Answer 41

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

Answer 42

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.

Answer 43

Colicky non-specific abdominal pain with redcurrant jelly stools

Answer 44

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.

Answer 45

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.

Answer 46

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)

Answer 47

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.

Answer 48

Chronic cough Hoarse cry Distress, crying or unsettled after feeding Reluctance to feed Pneumonia Poor weight gain

Answer 49

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

Answer 50

Small, frequent meals Burping regularly to help milk settle Not over-feeding Keep the baby upright after feeding (i.e. not lying flat)

Answer 51

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

Answer 52

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.

Answer 53

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.

Answer 54

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.

Answer 55

Infection (gastroenteritis) Inflammatory bowel disease Lactose intolerance Coeliac disease Cystic fibrosis Toddler’s diarrhoea Irritable bowel syndrome Medications (e.g. antibiotics)

Answer 56

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.

Answer 57

Anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA)

Answer 58

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.

Answer 59

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)

Answer 60

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

Answer 61

Endoscopy (OGD and colonoscopy) with biopsy

Answer 62

Azathioprine Mercaptopurine

Answer 63

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.

Answer 64

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

Answer 65

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.

Answer 66

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.

Answer 67

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

Answer 68

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.

Answer 69

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.

Answer 70

Meconium ileus Hirschsprung’s disease Oesophageal atresia Duodenal atresia Intussusception Imperforate anus Malrotation of the intestines with a volvulus Strangulated hernia

Answer 71

Abnormal bowel sounds. These can be high pitched and “tinkling” early in the obstruction and absent later.

Answer 72

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.

Answer 73

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).

Answer 74

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.

Answer 75

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.

Answer 76

McBurney's point

Answer 77

Rebound tenderness and percussion tenderness suggest peritonitis, caused by a ruptured appendix.

Answer 78

Rovsing’s sign (palpation of the left iliac fossa causes pain in the RIF)

Answer 79

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.

Answer 80

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.

Answer 81

Management options for cerebral oedema are slowing IV fluids, IV mannitol and IV hypertonic saline. These should be guided by an experienced paediatrician.

Answer 82

Hyperglycaemia (i.e. blood glucose > 11 mmol/l) Ketosis (i.e. blood ketones > 3 mmol/l) Acidosis (i.e. pH < 7.3)

Answer 83

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.

Answer 84

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.

Answer 85

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.

Answer 86

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.

Answer 87

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).

Answer 88

Hydrocortisone is a glucocorticoid hormone used to replace cortisol. Fludrocortisone is a mineralocorticoid hormone used to replace aldosterone if aldosterone is also insufficient.

Answer 89

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.

Answer 90

Reduced consciousness Hypotension Hypoglycaemia, hyponatraemia and hyperkalaemia

Answer 91

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

Answer 92

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.

Answer 93

ACTH from the anterior pituitary

Answer 94

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.

Answer 95

Aldosterone

Answer 96

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.

Answer 97

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.

Answer 98

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

Answer 99

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

Answer 100

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.

Answer 101

Fatigue and low energy Poor growth Weight gain Poor school performance Constipation Dry skin and hair loss

Answer 102

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.

Answer 103

A temperature greater than 38°C Loin pain or tenderness

Answer 104

The ideal urine sample is a clean catch sample, avoiding contamination.

Answer 105

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.

Answer 106

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).

Answer 107

Avoid constipation Avoid an excessively full bladder Prophylactic antibiotics Surgical input from paediatric urology

Answer 108

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.

Answer 109

Oestrogen helps keep the skin and vaginal mucosa healthy and resistant to infection.

Answer 110

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

Answer 111

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.

Answer 112

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

Answer 113

Management of minimal change disease is with corticosteroids (i.e. prednisolone).

Answer 114

Reduction in kidney function Haematuria: invisible or visible amounts of blood in the urine Proteinuria: although less than in nephrotic syndrome

Answer 115

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.

Answer 116

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).

Answer 117

When a renal biopsy is taken the histology will show “IgA deposits and glomerular mesangial proliferation”.

Answer 118

Management involves supportive treatment of the renal failure and immunosuppressant medications such as steroids and cyclophosphamide to slow the progression of the disease.

Answer 119

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

Answer 120

Five years old

Answer 121

Secondary nocturnal enuresis is where a child begins wetting the bed when they have previously been dry for at least 6 months.

Answer 122

Urinary tract infection Constipation Type 1 diabetes New psychosocial problems (e.g. stress in family or school life) Maltreatment

Answer 123

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.

Answer 124

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.

Answer 125

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.

Answer 126

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.

Answer 127

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

Answer 128

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.

Answer 129

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

Answer 130

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.

Answer 131

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

Answer 132

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.

Answer 133

Definitive management is by ablation or removal of the extra urethral tissue, usually during cystoscopy.

Answer 134

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.

Answer 135

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.

Answer 136

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).

Answer 137

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.

Answer 138

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

Answer 139

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.

Answer 140

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.

Answer 141

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.

Answer 142

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.

Answer 143

Hypoxic-Ischaemic Encephalopathy Grades

Answer 144

Poor feeding, generally irritability and hyper-alert Resolves within 24 hours Normal prognosis

Answer 145

Poor feeding, lethargic, hypotonic and seizures Can take weeks to resolve Up to 40% develop cerebral palsy

Answer 146

Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes Up to 50% mortality Up to 90% develop cerebral palsy

Answer 147

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.

Answer 148

In the first 24 hours of life

Answer 149

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

Answer 150

Haemolysis

Answer 151

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.

Answer 152

Can be offered before 34 weeks gestation and helps protect the baby’s brain

Answer 153

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.

Answer 154

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.

Answer 155

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

Answer 156

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.

Answer 157

The features of congenital rubella syndrome to be aware of are: Congenital cataracts Congenital heart disease (PDA and pulmonary stenosis) Learning disability Hearing loss

Answer 158

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.

Answer 159

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.

Answer 160

Intracranial calcification Hydrocephalus Chorioretinitis

Answer 161

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.

Answer 162

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

Answer 163

The lullaby trust is a great charity to help support families affected. Bereavement services and bereavement counselling should be available for affected families.

Answer 164

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.

Answer 165

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.

Answer 166

Dehydration

Answer 167

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.

Answer 168

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.

Answer 169

Inadequate nutritional intake Difficulty feeding Malabsorption Increased energy requirements Inability to process nutrition

Answer 170

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.

Answer 171

Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment

Answer 172

Dyspraxia Cerebral palsy Muscular dystrophy Visual impairment Congenital ataxia (rare)

Answer 173

Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking Hearing impairment Learning disability Neglect Autism Cerebral palsy

Answer 174

Dysgraphia refers to a specific difficulty in writing.

Answer 175

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.

Answer 176

Intelligence quotient 55 – 70: Mild 40 – 55: Moderate 25 – 40: Severe Under 25: Profound

Answer 177

Kallman syndrome is a genetic condition causing hypogonadotrophic hypogonadism, resulting in failure to start puberty. It is associated with a reduced or absent sense of smell (anosmia).

Answer 178

They are mature and intelligent enough to understand the treatment They can’t be persuaded to discuss it with their parents or let the health professional discuss it They are likely to have intercourse regardless of treatment Their physical or mental health is likely to suffer without treatment Treatment is in their best interest

Answer 179

First line: carbamazepine or lamotrigine Second line: sodium valproate or levetiracetam

Answer 180

It works by increasing the activity of GABA, which has a relaxing effect on the brain.

Answer 181

Agranulocytosis Aplastic anaemia Induces the P450 system so there are many drug interactions

Answer 182

Stevens-Johnson syndrome or DRESS syndrome. These are life threatening skin rashes. Leukopenia

Answer 183

Secure the airway Give high-concentration oxygen Assess cardiac and respiratory function Check blood glucose levels Gain intravenous access (insert a cannula) IV lorazepam, repeated after 10 minutes if the seizure continues If the seizures persist the final step is an infusion of IV phenobarbital or phenytoin. At this point intubation and ventilation to secure the airway needs to be considered, along with transfer to the intensive care unit if appropriate.

Answer 184

Buccal midazolam Rectal diazepam

Answer 185

Febrile convulsions can be described as complex when they consist of partial or focal seizures, last more than 15 minutes or occur multiple times during the same febrile illness. Simple febrile convulsions are generalised, tonic clonic seizures. They last less than 15 minutes and only occur once during a single febrile illness.

Answer 186

Cyanotic breath holding spells occur when the child is really upset, worked up and crying. After letting out a long cry they stop breathing, become cyanotic and lose consciousness. Within a minute they regain consciousness and start breathing. They can be a bit tired and lethargic after an episode.

Answer 187

Reflex anoxic seizures occur when the child is startled. The vagus nerve sends strong signals to the heart that causes it to stop beating. The child will suddenly go pale, lose consciousness and may start to have some seizure-like muscle twitching. Within 30 seconds the heart restarts and the child becomes conscious again.

Answer 188

When a patient presents with possible migraines ask about recurrent central abdominal pain as a child. They may have a history of abdominal migraine that started before the headaches.

Answer 189

Maternal infections Trauma during pregnancy

Answer 190

Birth asphyxia Pre-term birth

Answer 191

Meningitis Severe neonatal jaundice Head injury

Answer 192

Hypertonia (increased tone) and reduced function resulting from damage to upper motor neurones

Answer 193

Dyskinetic: problems controlling muscle tone, with hypertonia and hypotonia, causing athetoid movements and oro-motor problems. This is the result of damage to the basal ganglia.

Answer 194

Ataxic: problems with coordinated movement resulting from damage to the cerebellum

Answer 195

Hand preference below 18 months is a key sign to remember for exams

Answer 196

Hemiplegic / diplegic gait: indicates an upper motor neurone lesion

Answer 197

Indicates pelvic muscle weakness due to myopathy

Answer 198

Hirschberg’s test: shine a pen-torch at the patient from 1 meter away. When they look at it, observe the reflection of the light source on their cornea. The reflection should be central and symmetrical. Deviation from the centre will indicate a squint. Make a note of the affected eye and the direction the eye deviates.

Answer 199

Cover test: cover one eye and ask the patient to focus on an object in front of them. Move the cover across to the opposite eye and watch the movement of the previously covered eye. If this eye moves inwards, it had drifted outwards when covered (exotropia) and if it moves outwards it means it had drifted inwards when covered (esotropia).

Answer 200

Up until the age of 8 years the visual fields are still developing, therefore treatment needs to start before 8 years. The earlier the better. Delayed treatment increases the risk of the squint becoming permanent. An occlusive patch can be used to cover the good eye and force the weaker eye to develop. An alternative to the patch may involve using atropine drops in the good eye, causing vision in that eye to be blurred. Management is coordinated by an ophthalmologist. It will be important to treat any underlying pathology, such as cataracts. Refractive errors can be corrected with corrective lenses.

Answer 201

Hydrocephalus describes cerebrospinal fluid (CSF) building up abnormally within the brain and spinal cord. This is a result of either over-production of CSF or a problem with draining or absorbing CSF.

Answer 202

The most common cause of hydrocephalus is aqueductal stenosis, leading to insufficiency drainage of CSF. The cerebral aqueduct that connects the third and fourth ventricle is stenosed (narrowed). This blocks the normal flow of CSF out of the third ventricle, causing CSF to build up in the lateral and third ventricles.

Answer 203

Placing a VP shunt that drains CSF from the ventricles into another body cavity is the mainstay of treatment for hydrocephalus. Usually the peritoneal cavity is used to drain CSF, as there is plenty of space and it is easily reabsorbed. The surgeon places a small tube (catheter) through a small hole in the skull at the back of the head and into one of the ventricles. A valve on the end of this tube is placed subcutaneously, and a catheter on the other side of the valve runs under the skin into the peritoneal cavity. The valve helps to regulate the amount of CSF that drains from the ventricles.

Answer 204

Craniosynostosis occurs when the skull sutures close prematurely. This results in abnormal head shapes and restriction to the growth of the brain. If left untreated it will lead to raised intracranial pressure, with resulting symptoms of developmental delay, cognitive impairment, vomiting, irritability, visual impairment, neurological symptoms and seizures.

Answer 205

Where there are suspicions about craniosynostosis the patient should be referred to a specialist for further investigations. The first line investigation is a skull xray. CT head with bone views is used to confirm the diagnosis or exclude it if there is doubt on the xray.

Answer 206

Plagiocephaly refers to flattening of one area of the baby’s head.

Answer 207

Brachy- translates as short. Brachycephaly refers to flattening at the back of the head, resulting in a short head from back to front.

Answer 208

Children with proximal muscle weakness use a specific technique to stand up from a lying position. This is called Gower’s sign. To stand up, they get onto their hands and knees, then push their hips up and backwards like the “downward dog” yoga pose. They then shift their weight backwards and transfer their hands to their knees. Whilst keeping their legs mostly straight they walk their hands up their legs to get their upper body erect. This is because the muscles around the pelvis are not strong enough to get their upper body erect without the help of their arms.

Answer 209

Duchennes muscular dystrophy is the most likely muscular dystrophy to turn up in your exams. It is caused by a defective gene for dystrophin on the X-chromosome. Dystrophin is a protein that helps hold muscles together at the cellular level. Given that boys have a single X-chromosome and girls have two, girls have a spare copy of the dystrophin gene. Female carriers of the condition do not usually notice any symptoms. This makes Duchennes muscular dystrophy an X-linked recessive condition.

Answer 210

Less severe form of Duchenne's muscular dystrophy

Answer 211

The key feature of myotonic dystrophy to remember is the prolonged muscle contraction. This may present in exams with a patient that is unable to let go after shaking someones hand, or unable to release their grip on a doorknob after opening a door. When doing an upper limb neurological examination always shake the patients hand and observe for difficulty releasing their grip.

Answer 212

Spinal muscular atrophy (SMA) is a rare autosomal recessive condition that causes a progressive loss of motor neurones, leading to progressive muscular weakness.

Answer 213

Spinal muscular atrophy affects the lower motor neurones in the spinal cord. This means there will be lower motor neurone signs, such as fasciculations, reduced muscle bulk, reduced tone, reduced power and reduced or absent reflexes.

Answer 214

Obsessions are unwanted and uncontrolled thoughts and intrusive images that the person finds it very difficult to ignore. Examples of this are an overwhelming fear of contamination with dirt or germs or violent or explicit images that keep appearing in their mind.

Answer 215

Compulsions are repetitive actions the person feels they must do, generating anxiety if they are not done. Often these compulsions are a way for the person to handle the obsessions. For example, checking that all electrical equipment is turned off to settle the anxiety of obsessing about the house burning down. This is a normal behaviour, but in OCD the person may check every plug in the house 10 times before being able to go to sleep or leave.

Answer 216

Hypomagnesaemia Hypokalaemia Hypophosphataemia

Answer 217

Lanugo hair is fine, soft hair across most of the body

Answer 218

Schizoid personality disorder features a lack of interest or desire to form relationships with others and feelings that this is of no benefit to them.

Answer 219

Schizotypal personality disorder features unusual beliefs, thoughts and behaviours, as well as social anxiety that makes forming relationships difficult.

Answer 220

Borderline personality disorder features fluctuating strong emotions and difficulties with identity and maintaining healthy relationships.

Answer 221

Histrionic personality disorder features the need to be at the centre of attention and having to perform for others to maintain that attention.

Answer 222

Narcissistic personality disorder features feelings that they are special and need others to recognise this or else they get upset. They put themselves first.

Answer 223

Management of personality disorders can be difficult. The patterns of thinking and behaviours are deeply ingrained and are difficult to change. Patient and carer education is very important to help them understand the condition. Cognitive behavioural therapy (CBT) and psychotherapy is the key management option of choice. Supportive care can be provided during crises to help keep the patient safe.

Answer 224

T – Thalassaemia A – Anaemia of chronic disease I – Iron deficiency anaemia L – Lead poisoning S – Sideroblastic anaemia

Answer 225

A – Acute blood loss A – Anaemia of Chronic Disease A – Aplastic Anaemia H – Haemolytic Anaemia H – Hypothyroidism

Answer 226

Megaloblastic anaemia is caused by: B12 deficiency Folate deficiency Normoblastic macrocytic anaemia is caused by: Alcohol Reticulocytosis (usually from haemolytic anaemia or blood loss) Hypothyroidism Liver disease Drugs such as azathioprine

Answer 227

Iron is mainly absorbed in the duodenum and jejunum. It requires the acid from the stomach to keep the iron in the soluble ferrous (Fe2+) form. When there is less acid in the stomach, it changes to the insoluble ferric (Fe3+) form.

Answer 228

Ferritin is the form that iron takes when it is deposited and stored in cells. Extra ferritin is released from cells when there is inflammation, such as with infection or cancer. If ferritin in the blood is low, this is highly suggestive of iron deficiency. High ferritin is difficult to interpret and is likely to be related to inflammation rather than iron overload. A patient with a normal ferritin can still have iron deficiency anaemia, particularly if they have reasons to have a raised ferritin, such as infection.

Answer 229

Therefore, total iron binding capacity is directly related to the amount of transferrin in the blood. If you measure iron in the blood and then measure the total iron binding capacity of that blood, you can calculate the proportion of the transferrin molecules that are bound to iron. This is called the transferrin saturation. It is expressed as a percentage. The formula is: Transferrin Saturation = Serum Iron / Total Iron Binding Capacity

Answer 230

Transferrin saturation gives a good indication of the total iron in the body.

Answer 231

Total iron binding capacity can be used as a marker for how much transferrin is in the blood. It is an easier test to perform than measuring transferrin. Both TIBC and transferrin levels increase in iron deficiency and decrease in iron overload.

Answer 232

Leukaemia is a form of cancer of the cells in the bone marrow. A genetic mutation in one of the precursor cells in the bone marrow leads to excessive production of a single type of abnormal white blood cell. The excessive production of a single type of cell can lead to suppression of the other cell lines, causing underproduction of other cell types.

Answer 233

This results in a pancytopenia, which is a combination of low: Red blood cells (anaemia), White blood cells (leukopenia) Platelets (thrombocytopenia)

Answer 234

Idiopathic thrombocytopenic purpura (ITP) is a condition characterised by idiopathic (spontaneous) thrombocytopenia (low platelet count) causing a purpuric rash (non-blanching rash). ITP is caused by a type II hypersensitivity reaction. It is caused by the production of antibodies that target and destroy platelets. This can happen spontaneously, or it can be triggered by something, such as a viral infection.

Answer 235

Petechiae are pin-prick spots (around 1mm) of bleeding under the skin. Purpura are larger (3 – 10mm) spots of bleeding under the skin.

Answer 236

The condition can be confirmed by doing an urgent full blood count for the platelet count. Other values on the FBC should be normal. Other causes of a low platelet count should be excluded, for example heparin induced thrombocytopenia and leukaemia.

Answer 237

Treatment may be required if the patient is actively bleeding or severe thrombocytopenia (platelets below 10): Prednisolone IV immunoglobulins Blood transfusions if required Platelet transfusions only work temporarily Platelet transfusions only work temporarily because the antibodies against platelets will begin destroying the transfused platelets as soon as they are infused.

Answer 238

Avoid contact sports Avoid intramuscular injections and procedures such as lumbar punctures Avoid NSAIDs, aspirin and blood thinning medications Advice on managing nosebleeds Seek help after any injury that may cause internal bleeding, for example car accidents or head injuries

Answer 239

Patients with sickle-cell disease have an abnormal variant called haemoglobin S (HbS). HbS causes red blood cells to be an abnormal “sickle” shape. Sickle cell anaemia is an autosomal recessive condition where there is an abnormal gene for beta-globin on chromosome 11. One copy of the gene results in sickle-cell trait. Patients with sickle-cell trait are usually asymptomatic. Two abnormal copies are required for sickle-cell disease.

Answer 240

In patients with thalassaemia the red blood cells are more fragile and break down more easily. The spleen acts as a sieve to filter the blood and remove older blood cells. In patients with thalassaemia, the spleen collects all the destroyed red blood cells, resulting in splenomegaly.

Answer 241

The bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia. This causes a susceptibility to fractures and prominent features, such as a pronounced forehead and malar eminences (cheek bones).

Answer 242

Full blood count shows a microcytic anaemia. Haemoglobin electrophoresis is used to diagnose globin abnormalities. DNA testing can be used to look for the genetic abnormality Pregnant women in the UK are offered a screening test for thalassaemia at booking.

Answer 243

Iron overload occurs in thalassaemia as a result of the faulty creation of red blood cells, recurrent transfusions and increased absorption of iron in the gut in response to anaemia. Patients with thalassaemia have serum ferritin levels monitored to check for iron overload. Management of iron overload involves limiting transfusions and performing iron chelation.

Answer 244

Bone marrow transplant can be curative

Answer 245

Alpha-thalassaemia is caused by defects in alpha globin chains. The gene coding for this protein is on chromosome 16.

Answer 246

Beta-thalassaemia is caused by defects in beta globin chains. The gene coding for this protein is on chromosome 11. The gene defect can either consist of abnormal copies that retain some function or deletion genes where there is no function in the beta globin protein at all. Based on the type of defect, beta-thalassamia can be split into three types: Thalassaemia minor Thalassaemia intermedia Thalassaemia major

Answer 247

Patients with beta thalassaemia major are homozygous for the deletion genes. They have no functioning beta globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood. Thalassaemia major causes: Severe microcytic anaemia Splenomegaly Bone deformities Management involves regular transfusions, iron chelation and splenectomy. Bone marrow transplant can potentially be curative.

Answer 248

Hereditary spherocytosis is a condition where the red blood cells are sphere shaped, making them fragile and easily destroyed when passing through the spleen. It is the most common inherited haemolytic anaemia in northern Europeans. It is an autosomal dominant condition.

Answer 249

Hereditary spherocytosis presents with: Jaundice Anaemia Gallstones Splenomegaly Patients can have episodes of haemolytic crisis, often triggered by infections, where the haemolysis, anaemia and jaundice is more significant.

Answer 250

Patients with hereditary spherocytosis can develop aplastic crisis. During aplastic crisis there is increased anaemia, haemolysis and jaundice, without the normal response from the bone marrow of creating new red blood cells. Usually the bone marrow will respond to haemolysis by producing red blood cells faster, demonstrated by extra reticulocytes (immature red blood cells) in the blood. In aplastic crisis there is no reticulocyte response. This is often triggered by infection with parvovirus.

Answer 251

Hereditary spherocytosis is diagnosed by family history and clinical features, along with spherocytes on the blood film. The mean corpuscular haemoglobin concentration (MCHC) is raised on a full blood count. Reticulocytes will be raised due to rapid turnover of red blood cells.

Answer 252

Treatment is with folate supplementation and splenectomy. Removal of the gallbladder (cholecystectomy) may be required if gallstones are a problem. Transfusions may be required during acute crises.

Answer 253

Autosomal recessive

Answer 254

The key piece of knowledge for G6PD deficiency relates to triggers. In your exam look out for a patient that becomes jaundice and anaemic after eating broad beans, developing an infection or being treated with antimalarial medications. The underlying diagnosis might be G6PD deficiency.

Answer 255

The G6PD enzyme is responsible for helping protect cells from damage by reactive oxygen species (ROS). ROS are reactive molecules that contain oxygen, produced during normal cell metabolism and in higher quantities during stress on the cell. The G6PD enzyme is particularly important in red blood cells. A deficiency in G6PD makes cells more vulnerable to ROS, leading to haemolysis in red blood cells. Periods of increased stress, with a higher production of ROS, can lead to acute haemolytic anaemia.

Answer 256

Heinz bodies may be seen on a on blood film. Heinz bodies are blobs of denatured haemoglobin (“inclusions”) seen within the red blood cells.

Answer 257

Diagnosis can be made by doing a G6PD enzyme assay.

Answer 258

Haemolytic disease of the newborn is a cause haemolysis (red blood cells breaking down) and jaundice in the neonate. It is caused by incompatibility between the rhesus antigens on the surface of the red blood cells of the mother and fetus. The rhesus antigens on the red blood cells vary between individual. This is different to the ABO blood group system.

Answer 259

A direct Coombs test (DCT) can be used to check for immune haemolytic anaemia. This will be positive in haemolytic disease of the newborn.

Answer 260

RAST testing measures the total and allergen specific IgE quantities in the patient’s blood sample. In a patient with atopic conditions such as eczema and asthma, the results will often come back positive for everything you test.

Answer 261

Patch testing is the most helpful in determining an allergic contact dermatitis in response to a specific allergen. It is not helpful for food allergies. This could be for latex, perfumes, cosmetics or plants. A patch containing the allergen is placed on the patient’s skin. The patch can either contain a specific allergen, or a grid of lots of allergens as a screening tool. After 2 – 3 days the skin reaction to the patch is assessed.

Answer 262

Mast cell tryptase. Anaphylaxis can be confirmed by measuring the serum mast cell tryptase within 6 hours of the event. Tryptase is released during mast cell degranulation and stays in the blood for 6 hours before gradually disappearing.

Answer 263

Seasonal, for example hay fever Perennial (year round), for example house dust mite allergy Occupational, associated with the school or work environment

Answer 264

Allergic rhinitis is a condition caused by an IgE-mediated type 1 hypersensitivity reaction. Environmental allergens cause an allergic inflammatory response in the nasal mucosa. It is very common and can significantly affect sleep, mood, hobbies, work and school performance and quality of life.

Answer 265

Cetirizine, loratadine and fexofenadine

Answer 266

Chlorphenamine (Piriton) and promethazine

Answer 267

The aim when administering a nasal spray is to get a good coating throughout the nasal passage. Hold the spray in the left hand when spraying into the right nostril and vice versa. Aim to spray slightly outward, away from the nasal septum. Do NOT sniff at the same time as spraying, as this sends the mist straight to the back of the throat. The patient should not taste the spray at the back of the throat. If they do, that means it has gone too far.

Answer 268

The diagnosis is made based on a full history and examination. Skin prick testing can help support the diagnosis but is not always necessary. Avoiding cow’s milk should fully resolve symptoms: Breast feeding mothers should avoid dairy products Replace formula with special hydrolysed formulas designed for cow’s milk allergy Hydrolysed formulas contain cow’s milk, however the proteins have been broken down so that they no longer trigger an immune response. In severe cases infants may require elemental formulas made of basic amino acids (e.g. neocate). Most children will outgrow cow’s milk protein allergy by age 3, often earlier. Every 6 months or so, infants can be tried on the first step of the milk ladder (e.g. malted milk biscuits) and then slowly progress up the ladder until they develop symptoms. Over time they should gradually be able to progress towards a normal diet containing milk.

Answer 269

Cow’s milk intolerance is different from cow’s milk protein allergy. It is important not to get these mixed up. Cow’s milk intolerance presents with the same gastrointestinal symptoms as cow’s milk allergy (bloating, wind, diarrhoea and vomiting), however it does not give the allergic features (rash, angio-oedema, sneezing and coughing). Infants with cow’s milk allergy will not be able to tolerate cow’s milk at all, as it causes an allergic reaction, whereas infants with cow’s milk intolerance will be able to tolerate and continue to grow and develop, but will suffer with gastrointestinal symptoms whilst having cow’s milk. Infants with cow’s milk intolerance will grow out of it by 2 – 3 years. They can be fed with breast milk, hydrolysed formulas and weaned to foods not containing cow’s milk. After one year of age they can be started on the milk ladder.

Answer 270

A common exam task is to counsel patients about their child receiving the HPV vaccine. They are often upset because they believe this implies their daughter or son is sexually promiscuous. Focus on the fact it needs to be given before they become sexually active and that it protects them from cervical cancer and genital warts. HPV is very common and infection is the number one risk factor for cervical cancer.

Answer 271

Give oxygen if the patient has evidence of shock or oxygen saturations are below 94% Obtain IV access (cannulation) Blood tests, including a FBC, U&E, CRP, clotting screen (INR), blood gas for lactate and acidosis Blood cultures, ideally before giving antibiotics Urine dipstick and laboratory testing for culture and sensitivities Antibiotics according to local guidelines. They should be given within 1 hour of presentation. IV fluids. 20ml/kg IV bolus of normal saline if the lactate is above 2 mmol/L or there is shock. This may be repeated.

Answer 272

3 months, 38 degrees or above, sepsis

Answer 273

Group B strep (lives harmlessly in mother's vagina)

Answer 274

Kernig’s test involves lying the patient on their back, flexing one hip and knee to 90 degrees and then slowly straightening the knee whilst keeping the hip flexed at 90 degrees. This creates a slight stretch in the meninges. Where there is meningitis it will produce spinal pain or resistance to movement.

Answer 275

Brudzinski’s test involves lying the patient flat on their back and gently using your hands to lift their head and neck off the bed and flex their chin to their chest. In a positive test this causes the patient to involuntarily flex their hips and knees.

Answer 276

(the amoxicillin is to cover listeria contracted during pregnancy)

Answer 277

Hearing loss is a key complication Seizures and epilepsy Cognitive impairment and learning disability Memory loss Cerebral palsy, with focal neurological deficits such as limb weakness or spasticity

Answer 278

In children the most common cause is herpes simple type 1 (HSV-1) from cold sores. In neonates it is herpes simplex type 2 (HSV-2) from genital herpes, contracted during birth.

Answer 279

GCS below 9, haemodynamically unstable, active seizures or post-ictal.

Answer 280

Lumbar puncture, sending cerebrospinal fluid for viral PCR testing CT scan if a lumbar puncture is contraindicated MRI scan after the lumbar puncture to visualise the brain in detail EEG recording can be helpful in mild or ambiguous symptoms but is not always routinely required Swabs of other areas can help establish the causative organism, such as throat and vesicle swabs HIV testing is recommended in all patients with encephalitis

Answer 281

Intravenous antiviral medications are used to treat the suspected or confirmed underlying cause: Aciclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV) Ganciclovir treat cytomegalovirus (CMV) Repeat lumbar puncture is usually performed to ensure successful treatment prior to stopping antivirals Aciclovir is usually started empirically in suspected encephalitis until results are available. Other viral causes have no effective treatment and management is supportive. Followup, support and rehabilitation is required after encephalitis, with help managing the complications.

Answer 282

Infectious mononucleosis (IM) is a condition caused by infection with the Epstein Barr virus (EBV). It is commonly known as the “kissing disease”, “glandular fever” or “mono”. This virus is found in the saliva of infected individuals. Infection may be spread by kissing or by sharing cups, toothbrushes and other equipment that transmits saliva.

Answer 283

An adolescent with a sore throat, who develops an itchy rash after taking amoxicillin. Mononucleosis causes an intensely itchy maculopapular rash in response to amoxicillin or cefalosporins. Fever.

Answer 284

In certain diseases (such as HIV) we can test for specific antibodies to the disease. That way we know the body has come in contact with the disease and launched an immune response to it. In infectious mononucleosis, the body produces something called heterophile antibodies, which are antibodies that are more multipurpose and not specific to the EBV antigens. It takes up to 6 weeks for these antibodies to be produced.

Answer 285

It is possible to test for specific EBV antibodies. These antibodies target something called viral capsid antigen (VCA): The IgM antibody rises early and suggests acute infection The IgG antibody persists after the condition and suggests immunity

Answer 286

Infectious mononucleosis is usually self limiting. The acute illness lasts around 2 – 3 weeks, however it can leave the patient with fatigue for several months once the infection is cleared. Patients are advised to avoid alcohol, as EBV impacts the ability of the liver to process the alcohol. Patients are advised to avoid contact sports due to the risk of splenic rupture. Emergency surgery is usually required if splenic rupture occurs.

Answer 287

Burkitt's lymphoma

Answer 288

Respiratory droplets

Answer 289

14-25 days

Answer 290

Self-limiting condition that lasts around one week. The diagnosis can be confirmed using PCR testing on a saliva swab. The blood or saliva can also be tested for antibodies to the mumps virus. Mumps is a notifiable disease, meaning you need to notify public health of any suspected and confirmed cases. Management is supportive, with rest, fluids and analgesia. Mumps is a self limiting condition. Management of complications is also mostly supportive.

Answer 291

Patients experience an initial period of flu-like symptoms known as the prodrome. These occur a few days before the parotid swelling: Fever Muscle aches Lethargy Reduced appetite Headache Dry mouth Parotid gland swelling, either unilateral or bilateral, with associated pain is the key feature that should make you consider mumps.

Answer 292

HIV/hep B can spread from mother to child at any stage of pregnancy, birth or breastfeeding. This is referred to as vertical transmission.

Answer 293

Mode of delivery will be determined by the mother viral load: Normal vaginal delivery is recommended for women with a viral load < 50 copies / ml Caesarean sections are considered in patients with > 50 copies copies / ml and in all women with > 400 copies / ml IV zidovudine should be given during the caesarean if the viral load is unknown or there are > 10000 copies / ml Prophylaxis treatment may be given to the baby depending on the mothers viral load: Low risk babies, where mums viral load is < 50 copies per ml, should be given zidovudine for 4 weeks High risk babies, where mums viral load is > 50 copies / ml, should be given zidovudine, lamivudine and nevirapine for 4 weeks

Answer 294

To protect against pneumocystis jirovecii pneumonia (PCP)

Answer 295

Most children fully recover from the infection within 2 months, however a portion go on to become chronic hepatitis B carriers. In these patients the virus DNA has integrated into their own DNA and they continue to produce the viral proteins.

Answer 296

Most children with chronic hepatitis B are asymptomatic and do not require treatment. They require regular specialist follow up to assess monitor their serum ALT, HbeAg, HBV DNA, physical examination and liver ultrasound.

Answer 297

No vaccine is available. It is now curable in adults, using direct acting antiviral medications. These treatments are not yet available for children.

Answer 298

Babies to hepatitis C positive mothers are tested at 18 months of age using the hepatitis C antibody test. Breastfeeding has not been found to spread hepatitis C, so mothers are free to breastfeed their babies. If nipples become cracked or bleed breastfeeding should temporarily stop whilst they heal.

Answer 299

The hepatitis B virus can be found in the breast milk of mothers with hepatitis B. Babies of these mothers have already been exposed to the virus during pregnancy and birth. They should also receive the hepatitis B vaccine and hepatitis B immunoglobulin infusion. Therefore, the general advice is that it is safe for hepatitis B positive mother to breastfeed provided their babies are properly vaccinated.

Answer 300

The Centor criteria can be used to estimate the probability that tonsillitis is due to a bacteria infection, and will benefit from antibiotics. A score of 3 or more gives a 40 – 60 % probability of bacterial tonsillitis, and it is appropriate to offer antibiotics.

Answer 301

The FeverPAIN score is an alternative to the Centor criteria. A score of 2 – 3 gives a 34 – 40% probability and 4 – 5 gives a 62 – 65% probability of bacterial tonsillitis: Fever during previous 24 hours P – Purulence (pus on tonsils) A – Attended within 3 days of the onset of symptoms I – Inflamed tonsils (severely inflamed) N – No cough or coryza

Answer 302

Clarithromycin

Answer 303

A peritonsillar abscess

Answer 304

Patients should be referred into hospital under the care of the ENT team for incision and drainage of the abscess under general anaesthetic. Quinsy typically has an underlying bacterial cause, therefore antibiotics are appropriate before and after surgery. A broad spectrum antibiotic such as co-amoxiclav would be an appropriate choice to cover the common causes, but local guidelines will guide antibiotic choice according to local bacterial resistance.

Answer 305

A common question you will get from patients and parents is whether a child needs a tonsillectomy for recurrent tonsillitis. The NICE clinical knowledge summaries give the number of episodes required for a tonsillectomy: 7 or more in 1 year 5 per year for 2 years 3 per year for 3 years Other indications are: Recurrent tonsillar abscesses (2 episodes) Enlarged tonsils causing difficulty breathing, swallowing or snoring

Answer 306

Bleeding can be severe and in rare cases life threatening, usually due to aspiration of blood. Call the ENT registrar and get them involved early A-E

Answer 307

The most common bacterial causes of otitis media, as well as other ENT infections such as rhino-sinusitis and tonsillitis is streptococcus pneumoniae.

Answer 308

Most cases of otitis media will resolve without antibiotics, and NICE guidelines from 2018 highlight the importance of not providing antibiotics for otitis media. They state that most cases of otitis media will resolve within 3 days without antibiotics, but it can last for up to a week. Complications (mainly mastoiditis) are rare. Give simple analgesia to help with pain and fever. There are three options regarding prescribing antibiotics to patients with otitis media: Immediate antibiotics Delayed prescription No antibiotics Consider prescribing antibiotics at the initial presentation in patients who have significant co-morbidities, are systemically unwell or are immunocompromised. Children less than 2 years with bilateral otitis media and children with otorrhoea (discharge) are more likely to benefit from antibiotics. Consider a delayed prescription that can be collected and used after 3 days if symptoms have not improved or have worsened at any time. This can be useful with patients that are very keen on antibiotics or where you suspect they might get worse. The first line choice of antibiotic is amoxicillin for 5 days. Alternatives are erythromycin and clarithromycin.

Answer 309

Otitis media with effusion

Answer 310

Otoscopy can show a dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal.

Answer 311

Referral for audiometry to help establish the diagnosis and extent of hearing loss. Glue ear is usually treated conservatively, and resolves without treatment within 3 months. Children with co-morbidities affecting the structure of the ear, such as Down’s syndrome or cleft palate may require hearing aids or grommets.

Answer 312

After treating a nosebleed consider prescribing naseptin (chlorhexidine and neomycin) four times daily for 10 days to reduce any crusting, inflammation and infection. This is contraindicated in peanut or soya allergy.

Answer 313

Cleft lip or cleft palate is not life threatening, although it can lead to significant problems with feeding, swallowing and speech. It can also have significant psycho-social implications, including affecting bonding between mother and child. Surgery generally resolves these problems.

Answer 314

This is when a baby is born with a short and tight lingual frenulum, the attachment of the tongue to the floor of the mouth. This prevents them properly extending their tongue out of the mouth and makes it difficult for them to latch onto the breast. It usually presents as poor feeding or when noticed by the mother, midwife or doctor on newborn checks.

Answer 315

Mild tongue tie can be monitored and would not be expected to cause any issues. When it affect feeding they may benefit from treatment. Tongue tie can be cured with a frenotomy. This involves a trained person cutting the tongue tie. This can usually be done on the ward or in the clinic without any anaesthetic. Complications are very rare, and include excessive bleeding, scar formation and infection.

Answer 316

A cystic hygroma is a malformation of the lymphatic system that results in a cyst filled with lymphatic fluid. It is most commonly a congenital abnormality and is typically located in the posterior triangle of the neck on the left side.

Answer 317

Cystic hygromas most commonly present in the neck or armpit. They: Can be very large Are soft Are non-tender Transilluminate

Answer 318

Treatment varies based on the size, location and complications. Watching and waiting can be appropriate as it is a benign condition. They do not resolve spontaneously, but can show some regression. Aspiration (giving temporary improvement), surgical removal and sclerotherapy are treatment options.

Answer 319

Ultrasound or CT scan can confirm the diagnosis. Thyroglossal cysts are usually surgically removed to provide confirmation of the diagnosis on histology and prevent infections. The cyst can reoccur after surgery unless the full thyroglossal duct is removed.

Answer 320

A branchial cyst is a congenital abnormality arising when the second branchial cleft fails to properly form during fetal development. This leaves a space surrounded by epithelial tissue in the lateral aspect of the neck. This space can fill with fluid. This fluid filled lump is called a branchial cyst.

Answer 321

Branchial cysts present as a round, soft, cystic swelling between the angle of the jaw and the sternocleidomastoid muscle in the anterior triangle of the neck. Branchial cysts tend to present after the age of 10 years, most commonly in young adulthood when the cyst becomes noticeable or infected.

Answer 322

Fractures through the growth plate can cause issues with growth in that bone. Growth plate fractures are graded using the Salter-Harris classification. The higher the Salter-Harris grade, the more likely the fracture is to disturb growth.

Answer 323

Use the SALTR mnemonic to remember the types: Type 1: Straight across Type 2: Above Type 3: BeLow Type 4: Through Type 5: CRush

Answer 324

The first principle is to achieve mechanical alignment of the fracture by: Closed reduction via manipulation of the joint Open reduction via surgery The second principle is provide relative stability for a period of time, to allow healing. This can be done by fixing the bone in the correct position while it heals. There are various ways the bone can be fixed in position: External casts K wires Intramedullary wires Intramedullary nails Screws Plate and screws

Answer 325

Pain management in children is slightly different than adults. The World Health Organisation have a pain ladder for children that has only two steps: Step 1: Paracetamol or ibuprofen Step 2: Morphine If a child requires morphine they generally need admission for a serious illness. TOM TIP: Examiners like to test your knowledge on the pain medications that are not used in children. Codeine and tramadol are not used in children as there is unpredictability in their metabolism, so the effects vary too greatly to make them safe and effective options. Aspirin is contraindicated in children under 16 due to the risk of Reye’s syndrome (except in certain circumstances such as Kawasaki disease).

Answer 326

Septic arthritis Developmental dysplasia of the hip (DDH) Transient sinovitis

Answer 327

Septic arthritis Transient sinovitis Perthes disease

Answer 328

Septic arthritis Slipped upper femoral epiphysis (SUFE) Juvenile idiopathic arthritis

Answer 329

Have a low threshold for treating a patient for septic arthritis until it has been excluded with examination of the joint fluid. Be particularly cautious with immunosuppressed patients. Patients with suspected septic arthritis require admission to hospital and involvement of the orthopaedic team. The joint should be aspirated prior to giving antibiotics where possible. Send the sample for gram staining, crystal microscopy, culture and antibiotic sensitivities. The joint fluid may be purulent (full of pus). The gram stain will come back quite quickly and may give a clue about the organism. The full culture will take longer.

Answer 330

Empirical IV antibiotics should be given until the microbial sensitivities are known. Antibiotics are usually continued for 3 to 6 weeks in total when septic arthritis is confirmed. The choice of antibiotic depends on the local guidelines. Patients may require surgical drainage and washout of the joint to clear the infection in severe cases.

Answer 331

Transient synovitis is sometimes referred to as irritable hip. It is caused by temporary (transient) irritation and inflammation in the synovial membrane of the joint (synovitis). It is the most common cause of hip pain in children aged 3 – 10 years. It is often associated with a recent viral upper respiratory tract infection. Children with transient synovitis typically do not have a fever. Children with joint pain and a fever need urgent management for septic arthritis.

Answer 332

Symptoms of transient synovitis often occur within a few weeks of a viral illness. They present with acute or more gradual onset of: Limp Refusal to weight bear Groin or hip pain Mild low grade temperature Children with transient synovitis should be otherwise well. They should have normal paediatric observations and no signs of systemic illness. When other signs are present, consider alternative diagnoses.

Answer 333

General management of transient synovitis is symptomatic, with simple analgesia to help ease the discomfort. The challenge is to establish the correct diagnosis and exclude other significant pathology, particularly septic arthritis. NICE clinical knowledge summaries provide guidance on managing transient synovitis: Children aged 3 – 9 years with symptoms suggestive of transient synovitis may be managed in primary care if the limp is present for less than 48 hours and they are otherwise well, however they need clear safety net advice to attend A&E immediately if the symptoms worsen or they develop a fever. They should also be followed up at 48 hours and 1 week to ensure symptoms are improving and then fully resolve.

Answer 334

Typically there is a significant improvement in symptoms after 24 – 48 hours. Symptoms fully resolve within 1 – 2 weeks without any lasting problems. Transient synovitis may recur in around 20% of patients.

Answer 335

Perthes disease involves idiopathic disruption of blood flow to the femoral head, causing avascular necrosis of the bone. This affects the epiphysis of the femur, which is the bone distal to the growth plate (physis). The full name is Legg-Calvé-Perthes disease. It occurs in children aged 4 – 12 years, mostly between 5 – 8 years, and is more common in boys.

Answer 336

Over time there is revascularisation or neovascularisation and healing of the femoral head. There is remodelling of the bone as it heals. The main complication is a soft and deformed femoral head, leading to early hip osteoarthritis. This leads to an artificial total hip replacement in around 5% of patients.

Answer 337

XR initially Blood tests Technetium bone scan MRI scan

Answer 338

The severity of Perthes disease varies between patients. Initial management in younger and less severe disease is conservative. The aim of management to maintain a healthy position and alignment in the joint and reduce the risk of damage or deformity to the femoral head. This is with: Bed rest Traction Crutches Analgesia Physiotherapy is used to retain the range of movement in the muscles and joints without putting excess stress on the bone. Regular xrays are used to assess healing. Surgery may be used in severe cases, older children or those that are not healing. The aim is to improve the alignment and function of the femoral head and hip.

Answer 339

Slipped upper femoral epiphysis (SUFE) is also known as slipped capital femoral epiphysis (SCFE). It is where the head of the femur is displaced (“slips”) along the growth plate.

Answer 340

It is more common in boys and typically presents aged 8 – 15 years, with the average age of 12 in boys. It presents slightly earlier in females, with an average age of 11 years. It is more common in obese children.

Answer 341

When examining the patient, they will prefer to keep the hip in external rotation. They will have limited movement of the hip, particularly restricted internal rotation.

Answer 342

The initial investigation of choice in SUFE is xray. Other investigations that can be helpful in establishing the diagnosis are: Blood tests are normal, particularly inflammatory markers used to exclude other causes of joint pain Technetium bone scan CT scan MRI scan

Answer 343

Surgery is required to return the femoral head to the correct position and fix it in place to prevent it slipping further.

Answer 344

Osteomyelitis is an infection in the bone and bone marrow. This typically occurs in the metaphysis of the long bones.

Answer 345

This usually presents in adolescents and younger adults aged 10 – 20 years. The most common bone to be affected is the femur. Other common sites are the tibia and humerus. The main presenting feature is persistent bone pain, particularly worse at night time. This may disturb or wake them from sleep. Other symptoms that may be present include bone swelling, a palpable mass and restricted joint movements.

Answer 346

NICE guidelines recommend a very urgent direct access xray within 48 hours for children presenting with unexplained bone pain or swelling. If the xray suggests a possible sarcoma they need very urgent specialist assessment within 48 hours.

Answer 347

Xrays show a poorly defined lesion in the bone, with destruction of the normal bone and a “fluffy” appearance. There will be a periosteal reaction (irritation of the lining of the bone) that is classically described as a “sun-burst” appearance. There can an associated soft tissue mass.

Answer 348

Management involves surgical resection of the lesion, often with a limb amputation. Adjuvant chemotherapy is used alongside surgery to improve outcomes.

Answer 349

Talipes is a fixed abnormal ankle position that presents at birth. It is also known as clubfoot. It can occur spontaneously or be associated with other syndromes. It is usually identified at birth or during the newborn examination.

Answer 350

The Ponseti method is a way of treating talipes without surgery. It is usually very successful. Treatment is started almost immediately after birth. It is performed by a properly trained therapist. The foot is manipulated towards a normal position and a cast is applied to hold it in position. This is repeated over and over until the foot is in the correct position. At some point an achilles tenotomy to release tension in the achilles tendon is performed, often in clinic. After treatment with the cast is finished a brace is used to hold the feet in the correct position when not walking until the child is around 4 years old. This brace is sometimes referred to as “boots and bars”.

Answer 351

Positional talipes is a common condition where the resting position of the ankle is in plantar flexion and supination, however it is not fixed in this position and there is no structural boney issue in the ankle. The muscles are slightly tight around the ankle but the bones are unaffected. The foot can still be moved into the normal position. This requires referral to a physiotherapist for some simple exercises to help the foot return to a normal position. Positional talipes will resolve with time.

Answer 352

Developmental dysplasia of the hip (DDH) is a condition where there is a structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy. This leads to instability in the hips and a tendency or potential for subluxation or dislocation.

Answer 353

Clicking is a common examination finding and is usually due to soft tissue moving over bone. When this is the cause an ultrasound will be normal. Isolated clicking without any other features does not usually require an ultrasound unless there are other concerns. Clunking is more likely to indicate DDH and requires an ultrasound.

Answer 354

Different leg lengths Restricted hip abduction on one side Significant bilateral restriction in abduction Difference in the knee level when the hips are flexed Clunking of the hips on special tests

Answer 355

Where children are suspected of having DDH, ultrasound of the hips is the investigation of choice and can establish the diagnosis. All children with risk factors or examination findings suggestive of DDH should have an ultrasound. Xrays can also be helpful, particularly in older infants.

Answer 356

Treatment typically involves a Pavlik harness if the baby presents at less than 6 months of age. The Pavlik harness is fitted and kept on permanently, adjusting for the growth of the baby. The aim is to hold the femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape. This harness keeps the baby’s hips flexed and abducted. The child is regularly reviewed and the harness is removed when their hips are more stable, usually after 6 – 8 weeks. Surgery is required when the harness fails or the diagnosis is made after 6 months of age. After surgery is performed, an hip spica cast is used to immobilises the hip for a prolonged period.

Answer 357

Rickets is caused by a deficiency in vitamin D or calcium.

Answer 358

Bowing of the legs, where the legs curve outwards Knock knees, where the legs curve inwards Rachitic rosary, where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest Craniotabes, which is a soft skull, with delayed closure of the sutures and frontal bossing Delayed teeth with under-development of the enamel

Answer 359

Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D. A result of less than 25 nmol/L establishes a diagnosis vitamin D deficiency, which can lead to rickets.

Answer 360

Breastfed babies are at higher risk of vitamin D deficiency compared with formula fed babies, as formula feed is fortified with vitamin D. Breastfeeding women and all children should take a vitamin D supplement.

Answer 361

Children with vitamin D deficiency can be treated with vitamin D (ergocalciferol). The doses for treatment of vitamin D deficiency depend on the age (see the BNF). The dose for children between 6 months and 12 years is 6,000 IU per day for 8 – 12 weeks.

Answer 362

Children with features of rickets should be referred to a paediatrician. Vitamin D and calcium supplementation is used to treat rickets.

Answer 363

Achondroplasia is the most common cause of disproportionate short stature (dwarfism). It is a type of skeletal dysplasia caused by the achondroplasia gene, fibroblast growth factor receptor 3 (FGFR3), is on chromosome 4.

Answer 364

Osgood-Schlatter disease is caused by inflammation at the tibial tuberosity where the patella ligament inserts. It is a common cause of anterior knee pain in adolescents. It typically occurs in patients aged 10 – 15 years, and is more common in males. Osgood-Schlatter disease is usually unilateral, but it can be bilateral.

Answer 365

Osgood-Schlatter disease presents with a gradual onset of symptoms: Visible or palpable hard and tender lump at the tibial tuberosity Pain in the anterior aspect of the knee The pain is exacerbated by physical activity, kneeling and on extension of the knee

Answer 366

Initial management focuses on reducing the pain and inflammation. Reduction in physical activity Ice NSAIDS (ibuprofen) for symptomatic relief Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function.

Answer 367

Symptoms will fully resolve over time. The patient is usually left with a hard boney lump on their knee. A rare complication is a full avulsion fracture, where the tibial tuberosity is separated from the rest of the tibia. This usually requires surgical intervention.

Answer 368

Osteogenesis imperfecta is a genetic condition that results in brittle bones that are prone to fractures. It is also knowns as brittle bone syndrome.

Answer 369

It is caused by a range of genetic mutations that affect the formation of collagen. Collagen is a protein that is essential is maintaining the structure and function of bone, as well as skin, tendons and other connective tissues. There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity.

Answer 370

Osteogenesis imperfecta presents with recurrent and inappropriate fractures. There are several associated features: Hypermobility Blue / grey sclera (the “whites” of the eyes) Triangular face Short stature Deafness from early adulthood Dental problems, particularly with formation of teeth Bone deformities, such as bowed legs and scoliosis Joint and bone pain

Answer 371

The underlying genetic condition cannot be cured. Medical treatments include: Bisphosphates to increase bone density Vitamin D supplementation to prevent deficiency

Answer 372

Juvenile idiopathic arthritis (JIA) refers to a condition affecting children and adolescents where autoimmune inflammation occurs in the joints. It is diagnosed where there is arthritis without any other cause, lasting more than 6 weeks in a patient under the age of 16. It has also been known as juvenile chronic arthritis and juvenile rheumatoid arthritis.

Answer 373

Think of Still’s disease (systemic JIA) when a patient presents with a salmon-pink rash, fevers and joint pain. In children that have fevers for more than 5 days, the key non-infective differentials to remember are Kawasaki disease, Still’s disease, rheumatic fever and leukaemia.

Answer 374

A key complication is macrophage activation syndrome (MAS), where there is severe activation of the immune system with a massive inflammatory response. It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash. It is life threatening. A key investigation finding is a low ESR.

Answer 375

Polyarticular JIA is the equivalent of rheumatoid arthritis in adults. Most children are negative for rheumatoid factor and are described as “seronegative”. When rheumatoid factor is positive they are described as “seropositive”. Seropositive patients tend to be older children and adolescents and the disease pattern is more similar to rheumatoid arthritis in adults.

Answer 376

Polyarticular JIA involves idiopathic inflammatory arthritis in 5 joints or more. The inflammatory arthritis tends to be symmetrical and can affect the small joints of the hands and feet, as well as the large joints such as the hips and knees. There are minimal systemic symptoms, but there can be mild fever, anaemia and reduced growth. Systemic symptoms are mild, unlike systemic onset JIA.

Answer 377

This is also knowns as pauciarticular JIA. It involves 4 joints or less. Usually it only affects a single joint, which is described as a monoarthritis. It tends to affect the larger joints, often the knee or ankle. It occurs more frequently in girls under the age of 6 years.

Answer 378

A classic associated feature with oligoarticular JIA is anterior uveitis. Patients should be referred to an ophthalmologist for management and follow up of uveitis.

Answer 379

Enthesitis-related arthritis is more common in male children over 6 years. It can be thought of as the paediatric version of the seronegative spondyloarthropathy group of conditions that affect adults. These conditions are ankylosing spondylitis, psoriatic arthritis, reactive arthritis and inflammatory bowel disease-related arthritis. Patients have inflammatory arthritis in the joints as well as enthesitis.

Answer 380

The management should be coordinated by a specialist in paediatric rheumatology, with a specialist multi-disciplinary team. The aim of treatment is to reduce inflammation within the joints, minimise symptoms and maximise function. Medical treatment depends on the severity and response, and involves: NSAIDs, such as ibuprofen Steroids, either oral, intramuscular or intra-artricular in oligoarthritis Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, sulfasalazine and leflunomide Biologic therapy, such as the tumour necrosis factor inhibitors etanercept, infliximab and adalimumab

Answer 381

Ehlers-Danlos syndrome (EDS) is an umbrella term that encompasses a group of genetic conditions that cause defects in collagen, resulting in hypermobility of the patient’s joints and abnormalities in connective tissue such as the skin, bones, blood vessels and organs. There are several types of Ehlers-Danlos syndrome. This section mainly focuses on hypermobile Ehlers-Danlos syndrome.

Answer 382

Hypermobile Ehlers-Danlos syndrome represents most cases of EDS in clinical practice and exams. It is the most common and least severe type of Ehlers-Danlos syndrome. The key feature is joint hypermobility, but patients also have soft and stretchy skin. The gene for hypermobile EDS has not been identified and there is no single mode of inheritance.

Answer 383

The Beighton score is used to assess the extent of hypermobility and support the diagnosis of hypermobility syndrome. One point is scored for each side of the body, with a maximum score of 9: Palms flat on floor with straight legs (score 1) Elbows hyperextend Knees hyperextend Thumb can bend to touch the forearm Little finger hyperextends past 90 degrees

Answer 384

Postural orthostatic tachycardia syndrome (POTS) can occur with hypermobile Ehlers-Danlos syndrome, and is a result of autonomic dysfunction. This causes inappropriate tachycardia on sitting or standing up, resulting in distressing symptoms such as presyncope, syncope, headaches, disorientation, nausea and tremor.

Answer 385

Henoch-Schonlein Purpura (HSP) is an IgA vasculitis that presents with a purpuric rash affecting the lower limbs and buttocks in children. Inflammation occurs in the affected organs due to IgA deposits in the blood vessels. Often trigger by an upper airway infection or gastroenteritis.

Answer 386

Purpura (100%), Joint pain (75%), Abdominal pain (50%) Renal involvement (50%)

Answer 387

The most important initial step is to exclude other serious pathology, such as meningococcal septicaemia and leukaemia. Idiopathic thrombocytopenic purpura and haemolytic uraemic syndrome are also differentials for a non-blanching rash.

Answer 388

Management is supportive, with simple analgesia, rest and proper hydration. The use of steroids is debatable, with evidence suggesting they may shorten the duration of the illness but not affect long term outcomes or rate of recurrence. Steroids may be considered by specialist doctors in patients with severe gastrointestinal pain or renal involvement. It is important that patients with HSP are monitored closely whilst the illness is active. They need close monitoring with repeated: Urine dipstick monitoring for renal involvement Blood pressure monitoring for hypertension

Answer 389

Kawasaki disease is also known as mucocutaneous lymph node syndrome. It is a systemic, medium-sized vessel vasculitis. It affects young children, typically under 5 years. There is no clear cause or trigger. It is more common in Asian children, particularly Japanese and Korean children. It is also more common in boys.

Answer 390

Coronary artery aneurysm

Answer 391

If you come across a child with a fever persisting for more than 5 days, think of Kawasaki disease! A rash, strawberry tongue, lymphadenopathy and conjunctivitis will seal the diagnosis in your exams.

Answer 392

There are two first line medical treatments given to patients with Kawasaki disease: High dose aspirin to reduce the risk of thrombosis IV immunoglobulins to reduce the risk of coronary artery aneurysms Patients will need close follow up with echocardiograms to monitor for evidence of coronary artery aneurysms. TOM TIP: Kawasaki disease is one of the few scenarios where aspirin is used in children. Aspirin is usually avoided due to the risk of Reye’s syndrome. This is a unique fact that examiners like to test.

Answer 393

Rheumatic fever is caused by group A beta-haemolytic streptococcal, typically streptococcus pyogenes causing tonsillitis. The immune system creates antibodies to fight the infection. These antibodies not only target the bacteria, but also match antigens on the cells of the person’s body, for example the muscle cells in the myocardium in the heart. This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body. This process is usually delayed 2 – 4 weeks after the initial infection.

Answer 394

Major Criteria: J – Joint arthritis O – Organ inflammation, such as carditis N – Nodules E – Erythema marginatum rash S – Sydenham chorea Minor Criteria: Fever ECG Changes (prolonged PR interval) without carditis Arthralgia without arthritis Raised inflammatory markers (CRP and ESR)

Answer 395

The simplified pathophysiology is that eczema is caused by defects in the barrier that the skin provides. Tiny gaps in the skin barrier provide an entrance for irritants, microbes and allergens that create an immune response, resulting in inflammation and the associated symptoms.

Answer 396

Management can be thought of as maintenance and management of flares, similar to the management of chronic and acute asthma. The key to maintenance is to create an artificial barrier over the skin to compensate for the defective skin barrier. This is done using emollients that are as thick and greasy as tolerated, used as often as possible, particularly after washing and before bed. Patients should avoid activities that break down the skin barrier, such as bathing in hot water, scratching or scrubbing their skin and using soaps and body washes that remove the natural oils in the skin. Emollients or specifically designed soap substitutes can be used instead of soap and body washes when showering or washing hands. Flares can be treated with thicker emollients, topical steroids, “wet wraps” (covering affected areas in a thick emollient and applying a wrap to keep moisture locked in overnight) and treating any complications such as bacterial or viral infections. Very rarely IV antibiotics or oral steroids might be required in very severe flares.

Answer 397

Environmental triggers, such as changes in temperature, certain dietary products, washing powders, cleaning products and emotional events or stresses can also play a role.

Answer 398

Thin: E45, diprobase cream Thick, greasy: diprobase ointment

Answer 399

The steroid ladder from weakest to most potent: Mild: Hydrocortisone 0.5%, 1% and 2.5% Moderate: Eumovate (clobetasone butyrate 0.05%) Potent: Betnovate (betamethasone 0.1%) Very potent: Dermovate (clobetasol propionate 0.05%)

Answer 400

Eczema herpeticum is a viral skin infection caused by the herpes simplex virus (HSV) or varicella zoster virus (VZV). It was previously known as Kaposi varicelliform eruption (don’t confuse this with Kaposi sarcoma, which occurs in late stage HIV). Herpes simplex virus 1 (HSV-1) is the most common causative organism, and may be associated with a coldsore in the patient or a close contact. It usually occurs in a patient with a pre-existing skin condition, such as atopic eczema or dermatitis, where the virus is able to enter the skin and cause an infection.

Answer 401

A typical presentation is a patient who suffers with eczema that has developed a widespread, painful, vesicular rash with systemic symptoms such as fever, lethargy, irritability and reduced oral intake. There will usually be lymphadenopathy (swollen lymph nodes).

Answer 402

Viral swabs of the vesicles can be used to confirm the diagnosis, although treatment is usually started based on the clinical appearance. Treatment is with aciclovir. A mild or moderate case may be treated with oral aciclovir, whereas more severe cases may require IV aciclovir.

Answer 403

Patches of psoriasis are dry, flaky, scaly, faintly erythematous skin lesions that appear in raised and rough plaques, commonly over the extensor surfaces of the elbows and knees and on the scalp. These skin changes are caused by the rapid generation of new skin cells, resulting in an abnormal buildup and thickening of the skin in those areas.

Answer 404

Auspitz sign refers to small points of bleeding when plaques are scraped off

Answer 405

Koebner phenomenon refers to the development of psoriatic lesions to areas of skin affected by trauma

Answer 406

Topical steroids Topical vitamin D analogues (calcipotriol) Topical dithranol Topical calcineurin inhibitors (tacrolimus) are usually only used in adults Phototherapy with narrow band ultraviolet B light is particularly useful in extensive guttate psoriasis

Answer 407

Acne results from increased production of sebum, trapping of keratin (dead skin cells) and blockage of the pilosebaceous unit. This leads to swelling and inflammation in the pilosebaceous unit. Androgenic hormones increase the production of sebum, which is why acne is exacerbated by puberty and improves with anti-androgenic hormonal contraception. Swollen and inflamed units are called comedones. The Propionibacterium acnes bacteria is felt to play an important role in acne. This is a bacteria that colonises the skin. It is thought that excessive growth of this bacteria can exacerbate acne. Many of the treatments of acne aim to reduce these bacteria.

Answer 408

No treatment may be acceptable if mild Topical benzoyl peroxide reduces inflammation, helps unblock the skin and is toxic to the P. acnes bacteria Topical retinoids (chemicals related to vitamin A) slow the production of sebum (women of childbearing age need effective contraception) Topical antibiotics such as clindamycin (prescribed with benzoyl peroxide to reduce bacterial resistance) Oral antibiotics such as lymecycline Oral contraceptive pill can help female patients stabilise their hormones and slow the production of sebum

Answer 409

Oral retinoids for severe acne (i.e. isotretinoin) is an effective last-line option, although it is only prescribed by a specialist after other methods fail. This needs careful follow-up and monitoring and reliable contraception in females. Retinoids are highly teratogenic.

Answer 410

Co-cyprindiol (Dianette) is the most effective combined contraceptive pill for acne due to it’s anti-androgen effects. It has a higher risk of thromboembolism, so treatment is usually discontinued once acne is controlled and it is not prescribed long term.

Answer 411

Measles is caused by the measles virus. It is highly contagious via respiratory droplets.

Answer 412

Symptoms start 10 – 12 days after exposure, with fever, coryzal symptoms and conjunctivitis. Koplik spots are greyish white spots on the buccal mucosa. They appear 2 days after the fever. They are pathognomonic for measles, meaning if a patient has Koplik spots, you can diagnose measles.

Answer 413

Measles is self resolving after 7 – 10 days of symptoms. Children should be isolated until 4 days after their symptoms resolve. Measles is a notifiable disease and all cases need to be reported to public health.

Answer 414

Scarlet fever is associated with group A streptococcus infection, usually tonsillitis. It is not caused by a virus. Scarlet fever is caused by an exotoxin produced by the streptococcus pyogenes (group A strep) bacteria.

Answer 415

It is characterised by a red-pink, blotchy, macular rash with rough “sandpaper” skin that starts on the trunk and spreads outwards. Patients can have red, flushed cheeks. Other features: Fever Lethargy Flushed face Sore throat Strawberry tongue Cervical lymphadenopathy

Answer 416

Treatment is with antibiotics for the underlying streptococcal bacterial infection. This is with phenoxymethylpenicillin (penicillin V) for 10 days. Scarlet fever is a notifiable disease and all cases need to be reported to public health. Children should be kept off school until 24 hours after starting antibiotics.

Answer 417

It is highly contagious and spread by respiratory droplets. Symptoms start 2 weeks after exposure.

Answer 418

It presents with a milder erythematous macular rash compared with measles. The rash starts on the face and spreads to the rest of the body. The rash classically lasts 3 days. It can be associated with a mild fever, joint pain and a sore throat. Patients often have enlarged lymph nodes (lymphadenopathy) behind the ears and at the back of the neck.

Answer 419

Management is supportive and the condition is self limiting. Rubella is a notifiable disease and all cases need to be reported to public health. Children should stay off school for at least 5 days after the rash appears. Children should avoid pregnant women.

Answer 420

Rubella is dangerous in pregnancy and can lead to congenital rubella syndrome, which is a triad of deafness, blindness and congenital heart disease.

Answer 421

Parvovirus B19 is also known as fifth disease, slapped cheek syndrome and erythema infectiosum. It is caused by the parvovirus B19 virus.

Answer 422

The illness is self-limiting and the rash and symptoms usually fade over 1 – 2 weeks. Healthy children and adults have a low risk of any complications and are managed supportively with plenty of fluids and simple analgesia. It is infectious prior to the rash forming, but once the rash has formed they are no longer infectious and do not need to stay off school.

Answer 423

These patients require serology testing for parvovirus to confirm the diagnosis and checking of the full blood count and reticulocyte count for aplastic anaemia. People that would be at risk of complications that have come in contact with someone with parvovirus prior to the rash forming, should be informed and may need investigations. Complications: Aplastic anaemia Encephalitis or meningitis Pregnancy complications including fetal death Rarely hepatitis, myocarditis or nephritis

Answer 424

Roseola infantum is also known as just roseola or sixth disease. This is caused by human herpesvirus 6 (HHV-6) and less frequently by human herpesvirus 7 (HHV-7).

Answer 425

Roseola has a typical pattern of illness. It presents 1 – 2 weeks after infection with a high fever (up to 40ºC) that comes on suddenly, lasts for 3 – 5 days and then disappears suddenly. There may be coryzal symptoms, sore throat and swollen lymph nodes during the illness. When the fever settles, the rash appears for 1 – 2 days. The rash consists of a mild erythematous macular rash across the arms, legs, trunk and face and is not itchy. Children make a full recovery within a week and do not generally need to be kept off nursery if they are well enough to attend.

Answer 426

The main complication to be aware of is febrile convulsions due to high temperature. Immunocompromised patients may be at risk of rare complications such as myocarditis, thrombocytopenia and Guillain-Barre syndrome.

Answer 427

Erythema multiforme is an erythematous rash caused by a hypersensitivity reaction. The most common causes are viral infections and medications. It is also notably associated with the herpes simplex virus (causing coldsores) and mycoplasma pneumonia.

Answer 428

Erythema multiforme produces a widespread, itchy, erythematous rash. It produces characteristic “target lesions”. Target lesions are red rings within larger red rings, with the darkest red at the centre, similar to a bulls-eye target. It does not usually affect the mucous membranes but can cause a sore mouth (stomatitis). The symptoms come on abruptly over a few days. It may be associated with other symptoms of mild fever, stomatitis, muscle and joint aches, headaches and general flu-like symptoms.

Answer 429

Most of the time erythema multiforme is mild and resolves spontaneously within one to four weeks without any treatment or lasting effects. Cases may be recurrent, particularly associated with recurrent coldsores. Severe cases may require admission to hospital, particularly where it affects the oral mucosa. Treatments used in severe cases include IV fluids, analgesia and steroids (systemic or topical). The use of systemic steroids is controversial. Antibiotics or antivirals may be used where infection is present.

Answer 430

Antihistamines are the main treatment for urticaria. Fexofenadine is usually the antihistamine of choice for chronic urticaria. Oral steroids may be considered as a short course for severe flares.

Answer 431

Chronic urticaria is an autoimmune condition, where autoantibodies target mast cells and trigger them to release histamines and other chemicals. It can be sub-classified depending on the cause: Chronic idiopathic urticaria Chronic inducible urticaria Autoimmune urticaria Chronic idiopathic urticaria describes recurrent episodes of chronic urticaria without a clear underlying cause or trigger. Chronic inducible urticaria describes episodes of chronic urticaria that can be induced by certain triggers, such as: Sunlight Temperature change Exercise Strong emotions Hot or cold weather Pressure (dermatographism) Autoimmune urticaria describes chronic urticaria associated with an underlying autoimmune condition, such as systemic lupus erythematosus.

Answer 432

Chickenpox is caused by the varicella zoster virus (VZV).

Answer 433

They stop being contagious after all the lesions have crusted over.

Answer 434

Chickenpox is usually a mild self limiting condition that does not require treatment in otherwise healthy children. Aciclovir may be considered in immunocompromised patients, adults and adolescents over 14 years presenting within 24 hours, neonates or those at risk of complications.

Answer 435

Chickenpox in the mother around the time of delivery can lead to life threatening neonatal infection and is treated with varicella zoster immunoglobulins and aciclovir.

Answer 436

Pregnant women that are known to be immune to chickenpox are not at risk when in contact with chickenpox. When they are not immune, varicella zoster immunoglobulins can be given to protect them against the virus after exposure.

Answer 437

Hand, foot and mouth disease is caused by the coxsackie A virus. Incubation is usually 3 – 5 days.

Answer 438

There is no treatment for hand, foot and mouth disease. Management is supportive, with adequate fluid intake and simple analgesia such as paracetamol if required. The rash and illness resolve spontaneously without treatment after a week to 10 days It is highly contagious and advice should be give about measures to avoid transmission, such as avoiding sharing towels and bedding, washing hands and careful handling of dirty nappies.

Answer 439

The illness starts with typical viral upper respiratory tract symptoms such as tiredness, sore throat, dry cough and raised temperature. After 1 – 2 days small mouth ulcers appear, followed by blistering red spots across the body. As the name suggests, these spots are most notable on the hands, feet and around the mouth. Painful mouth ulcers, particularly on the tongue are also a key feature. The rash may be itchy.

Answer 440

Molluscum contagiosum is a viral skin infection caused by the molluscum contagiosum virus, which is a type of poxvirus.

Answer 441

Molluscum contagiosum is characterised by small, flesh coloured papules (raised individual bumps on the skin) that characteristically have a central dimple. They typically appear in “crops” of multiple lesions in a local area. It is spread through direct contact or by sharing items like towels or bedsheets. The papules resolve by themselves without any treatment, however this can take up to 18 months. Once they resolve the skin returns to normal. Scratching or picking the lesions should be avoided as it can lead to spreading, scarring and infection.

Answer 442

There is no treatment for the rash. It will resolve spontaneously without any long term effects. Patient education and reassurance is all that is required. It is not contagious and they can continue all their normal activities. They may require symptomatic treatment if bothered by itching. This may include emollients, topical steroids or sedating antihistamines at night to help with sleep (e.g. chlorphenamine).

Answer 443

Infantile seborrhoeic dermatitis (cradle cap) causes a crusted flaky scalp. It is a self limiting condition and usually resolves by 4 months of age, but can last until 12 months.

Answer 444

First line treatment is by applying baby oil, vegetable oil or olive oil, gently brushing the scalp then washing off. When this is not effective, white petroleum jelly can be used overnight to soften the crusted areas before washing off in the morning. The next step is a topical anti-fungal cream such as clotrimazole or miconazole, used for up to 4 weeks. Severe or unresponsive cases may need referral to a dermatologist.

Answer 445

Ringworm presents as an itchy rash that is erythematous, scaly and well demarcated. There is often one or several rings or circular shaped areas that spread outwards, with a well demarcated edge. The edge is more prominent and red and the area in the centre is more faint in colour.

Answer 446

Check the toenails in someone presenting with ringworm, you may find they have a fungal nail infection that has spread to the skin.

Answer 447

Treatment of ringworm is with anti-fungal medications: Anti-fungal creams such as clotrimazole and miconazole Anti-fungal shampoo such as ketoconazole for tinea capitis Oral anti-fungal medications such as fluconazole, griseofulvin and itraconazole

Answer 448

Fungal nail infections can be treated with amorolfine nail lacquer for 6 – 12 months. Resistant cases may need oral terbinafine, however the patient will need their LFTs monitoring before and whilst taking this.

Answer 449

Wear loose breathable clothing Keep the affected area clean and dry Avoid sharing towels, clothes and bedding Use a separate towel for the feet with tinea pedis Avoid scratching and spreading to other areas Wear clean dry socks every day

Answer 450

Nappy rash is contact dermatitis in the nappy area. It is usually caused by friction between the skin and nappy and contact with urine and faeces in a dirty nappy. Most babies will get nappy rash at some point, and it is most common between 9 and 12 months of age. Additionally, the breakdown in skin and the warm moist environment in the nappy can lead to added infection with candida (fungus) or bacteria, usually staphylococcus or streptococcus.

Answer 451

Candida in the nappy area (thrush) is a common finding. Signs that would point to a candidal infection rather than simple nappy rash are: Rash extending into the skin folds Larger red macules Well demarcated scaly border Circular pattern to the rash spreading outwards, similar to ringworm Satellite lesions, which are small similar patches of rash or pustules near the main rash Check for oral thrush with a white coating on the tongue, as this is likely to indicate a fungal infection in the nappy area.

Answer 452

Simple measures can be taken to improve skin health and treat nappy rash within a few days: Switching to highly absorbent nappies (disposable gel matrix nappies) Change the nappy and clean the skin as soon as possible after wetting or soiling Use water or gentle alcohol free products for cleaning the nappy area Ensure the nappy area is dry before replacing the nappy Maximise time not wearing a nappy

Answer 453

Infection with candida or bacteria warrants treatment with an anti-fungal cream (clotrimazole or miconazole) or antibiotic (fusidic acid cream or oral flucloxacillin).

Answer 454

Scabies are tiny mites called Sarcoptes scabiei that burrow under the skin causing infection and intense itching. They lay eggs in the skin, leading to further infection and symptoms. It can take up to 8 weeks for any symptoms or rash to appear after the initial infestation.

Answer 455

Scabies presents with incredibly itchy small red spots, possibly with track marks where the mites have burrowed. The classic location of the rash is between the finger webs, but it can spread to the whole body.

Answer 456

Treatment is with permethrin cream. This needs to be applied to the whole body, completely covering skin. It is best to do this when the skin is cool (i.e. not after a bath or shower) so that a layer of cream remains on top of the skin and does not get absorbed. The cream should be left on for 8 – 12 hours and then washed off. This should be repeated a week later to kill all the eggs that survived the first treatment and have now hatched. Oral ivermectin as a single dose that can be repeated a week later is an option for difficult to treat or crusted scabies. Scabies is contagious to all household and close contacts. When one person is diagnosed, all household and close contacts should also be treated in exactly the same way, even if asymptomatic. This is because they may be infected and not yet have symptoms. All clothes, bedclothes, towels and other materials in contact with scabies need to be washed on a hot wash to destroy the mites. Thorough hoovering of carpets and furniture is also essential.

Answer 457

Dimeticone 4% lotion can be applied to the hair and left to dry. This is left on for 8 hours (i.e. overnight), then washed off. This process is repeated 7 days later to kill any head lice that have hatched since treatment. Special fine combs can be used to systematically comb the nits and lice out of the hair. They can be used for detection combing to check the success of treatment. NICE clinical knowledge summaries recommend The Bug Buster kit.

Answer 458

Meningococcal septicaemia or other bacterial sepsis: This presents with a feverish unwell child. Any features of meningococcal septicaemia indicate emergency management with immediate antibiotics. This can lead to significant morbidity and mortality if treatment is delayed. Henoch-Schonlein purpura (HSP): This typically presents as a purpuric rash on the legs and buttocks and may have associated abdominal or joint pain. Idiopathic thrombocytopenic purpura (ITP): This develops over several days in an otherwise well child. Acute leukaemias: This presents with a gradual development of petechiae, potentially with other signs such as anaemia, lymphadenopathy and hepatosplenomegaly. Haemolytic uraemic syndrome (HUS): This is associated with oliguria (very low urine output) and signs of anaemia. This often presents in a child with recent diarrhoea. Mechanical: Strong coughing, vomiting or breath holding can produce petechiae in a “superior vena cava distribution”, above the neck and most prominently around the eyes. Traumatic: Tight pressure on the skin, for example in non-accidental injury, or occlusion of blood in an area of skin can lead to traumatic petechiae. Viral illness: This is often the explanation when other causes and serious illness are excluded. Typical causes are influenza and enterovirus.

Answer 459

It is caused by inflammation of the subcutaneous fat on the shins. Inflammation of fat is called panniculitis. It is caused by a hypersensitivity reaction. In around half of patients there is no identifiable cause. It is associated with a number of triggers and underlying conditions.

Answer 460

Erythema nodosum often indicates inflammatory bowel disease or sarcoidosis in exams.

Answer 461

Inflammatory markers (CRP and ESR) Throat swab for streptococcal infection Chest xray can help identify mycoplasma, tuberculosis, sarcoidosis and lymphoma Stool microscopy and culture for campylobacter and salmonella Faecal calprotectin for inflammatory bowel disease

Answer 462

Erythema nodosum presents with red, inflamed, subcutaneous nodules across both shins. The nodules are raised and can be painful and tender. Over time the nodules settle and appears as bruises.

Answer 463

Impetigo is a superficial bacterial skin infection, usually caused by the staphylococcus aureus bacteria. A “golden crust” is characteristic of a staphylococcus skin infection. It is also less commonly caused by the streptococcus pyogenes bacteria. Impetigo is contagious and children should be kept off school during the infection. Impetigo occurs when bacteria enter via a break in the skin. This may be in otherwise healthy skin or may be related to eczema or dermatitis. Impetigo can be classified as non-bullous or bullous.

Answer 464

Non-bullous impetigo typically occurs around the nose or mouth. The exudate from the lesions dries to form a “golden crust”. They are often unsightly but do not usually cause systemic symptoms or make the person unwell.

Answer 465

Topical fusidic acid can be used to treat localised non-bullous impetigo. Draft NICE guidelines from August 2019 suggest using antiseptic cream (hydrogen peroxide 1% cream) first line rather than antibiotics for localised non-bullous impetigo. Oral flucloxacillin is used to treat more wide spread or severe impetigo. Flucloxacillin is the antibiotic of choice for staphylococcal infections. Advise about measure to avoid spreading the impetigo. Patients should be given advice about not touching or scratching the lesions, hand hygiene and avoiding sharing face towels and cutlery. They need to be off school until all the lesions have healed or they have been treated with antibiotics for at least 48 hours.

Answer 466

Bullous impetigo is always caused by the staphylococcus aureus bacteria. These bacteria can produce epidermolytic toxins that break down the proteins that hold skin cells together. This causes 1 – 2 cm fluid filled vesicles to form on the skin. These vesicles grow in size and then burst, forming a “golden crust”. Eventually they heal without scarring. These lesions can be painful and itchy. This type of impetigo is more common in neonates and children under 2 years, however it can occur in older children and adults. It is more common for patients to have systemic symptoms. They may be feverish and generally unwell. In severe infections when the lesions are widespread, it is called staphylococcus scalded skin syndrome.

Answer 467

Swabs of the vesicles can confirm the diagnosis, bacteria and antibiotic sensitivities. Treatment of bullous impetigo is with antibiotics, usually flucloxacillin. This may be given orally or intravenously if they are very unwell or at risk of complications. The condition is very contagious and patients should be isolated where possible.

Answer 468

Staphylococcal scalded skin syndrome (SSSS) is a condition caused by a type of staphylococcus aureus bacteria that produces epidermolytic toxins. These toxins are protease enzymes that break down the proteins that hold skin cells together. When a skin infection occurs and these toxins are produced, the skin is damaged and breaks down. This condition usually affects children under 5 years. Older children and adults have usually developed immunity to the epidermolytic toxins.

Answer 469

Nikolsky sign is where very gentle rubbing of the skin causes it to peel away. This is positive in SSSS.

Answer 470

Most patients will require admission and treatment with IV antibiotics. Fluid and electrolyte balance is key to management as patients are prone to dehydration. When adequately treated, children usually make a full recovery without scarring.

Answer 471

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are a spectrum of the same pathology, where a disproportional immune response causes epidermal necrosis, resulting in blistering and shedding of the top layer of skin. Generally, SJS affects less that 10% of body surface area whereas TEN affects more than 10% of body surface area.

Answer 472

SJS and TEN are medical emergencies and patients should be admitted to a suitable dermatology or burns unit for treatment. Good supportive care is essential, including nutritional care, antiseptics, analgesia and ophthalmology input. Treatment options include steroids, immunoglobulins and immunosuppressant medications guided by a specialist.