Specialties - Paeds Flashcards
Flashcards for paediatrics. Most of them are of my design and have been made using Rapid Paeds and Lissauer's textbook (both of which are excellent), however a couple are taken from '450 SBAs in Clinical Specialities' which is an amazing resource. Those questions have an acknowledgement in the answer
A two year old is brought in via ambulance because the parent noticed breathing difficulties. The baby has marked stridor accompanied by a barking cough, and sub-costal recession can be seen. The parents say the child has had a runny nose for a couple of days. The doctor examines the baby cautiously, and purposely does not examine their throat.
What is the most likely cause of these symptoms?
A. Inhaled foreign body B. Parainfluenza C. Anaphylaxis D. Respiratory syncytial virus E. Acute epiglottitis
B. Parainfluenza
This is a history of croup: a viral respiratory infection which causes inflammation that spreads from the larnyx down through the respiratory system. Croup is concerning because the inflammation can obstruct the upper airway, causing stridor. In severe cases, this obstruction can cause cyanosis or even death. This is why the doctor in this case is cautious with the child and does not examine the throat - because distressing the child could worsen the airway obstruction.
Croup is most commonly caused by parainfluenza, but may also be caused by other viruses e.g. RSV, influenza, rhinovirus.
Other differentials of upper airway obstruction include: acute epiglottitis, anaphylaxis, inhaled foreign body, tracheitis, infectious mononucleosis, haemophilus influenza infection, and diptheria. In this case, the time course rules out foreign body, the absence of a food trigger and angioedema rules out anaphylaxis, and the absence of systemic illness (a toxic child) rules out epiglottitis and tracheitis. The other infections could cause similar presentations, but are less common.
Management aims to alleviate the inflammation and open the airway rather than to cure the infection. Severe cases may require nebulised adrenaline to resolve acute obstruction, with dexamethasone to provide longer term relief of inflammation. Less severe cases may benefit from nebulised salbutamol, or even just paracetamol. In cases where the airway patency is threatened, intubation may be required.
A neonate born at 30 weeks is observed to be tachypnoeic shortly after birth, and displays nasal flaring and sub-costal recession. A chest x-ray reveals a diffuse granular - or ‘ground-glass’ - appearance.
What is the underlying pathology?
A. Bronchopulmonary dysplasia B. Congenital infection C. Pulmonary fibrosis D. Surfactant deficiency E. Pulmonary oedema
D. Surfactant deficiency
This is a case of respiratory distress syndrome, which is caused by a deficiency of surfactant in the lungs. Surfactant is a mix of proteins and phospholipids produced by type II pneumocytes which stops the lungs collapsing at the end of expiration by reducing surface tension.
Respiratory distress syndrome increases in probability the more pre-term the child is, as the lungs are one of the last organs to mature. It is rarely seen in term babies, but this is more likely with diabetic mothers and may very rarely be due to genetic defects in surfactant manufacturing.
If premature birth is expected, maturation of the lungs can be accelerated by giving the mother steroids. Surfactant can also be given directly post-natally using a catheter into the fetal lungs. Mechanical ventilation support may be required.
A mother brings her 18 month-old child to see the GP because she is worried the baby is not developing properly; she read on the internet her baby should be able to run and climb stairs by now, but he can’t.
The doctor assesses the child and finds that he can stand unsupported and walks well, but cannot run. When given blocks to play with, the baby transfers them between hands using a palmar grasp, but has no pincer grip. The child occasionally blurts out a few different meaningful words (e.g. blue, chair, mum) but does not string them together. The child is anxious around the doctor but becomes more cooperative after a while.
What should the mother be told?
A. There is moderate fine motor delay B. There is mild gross motor delay C. There is no developmental delay D. The child is precociously developed E. There is mild speech delay
A. There is moderate fine motor delay
In this case the mother is correct about the presence of a delay, but wrong about the type. When assessing a child’s development, there are four domains that should be considered: gross motor function, fine motor function, hearing/ speech and language, and social/ behavioural development. It is very important to familiarise yourself with developmental limits, so as to assess children for any delay. Lissauer’s Illustrated Textbook of Paediatrics is very useful for this.
Limit ages are the age by which 97.5% of children develop a skill (they are two standard deviations from the median). Although a child who misses limit ages may not have underlying pathology, there is an increased likelihood some is present. Below are the main limit ages for each field of development according to Lissauer.
Gross Motor: 4 months - head control 9 months - sits unsupported 12 months - stands with support 18 months - walks independently
Vision and Fine Motor:
3 months - fixes on objects and follows them visually
6 months - reaches for objects
9 months - transfers objects between hands
12 months - has developed a pincer grip
Hearing, Speech, and Language: 7 months - polysyllabic babble 10 months - consonant babble 18 months - can say 6 words with meaning 2 years - joins words together 2.5 years - 3-word sentences
Social Behaviour: 8 weeks - smiles 10 months - fears strangers 18 months - can feed self with a spoon 2-2.5 years - symbolic play (e.g. pretending a wooden block is a car/ phone) 3-3.5 years - Interactive play
A father brings his 9 month-old child to the GP for a check-up. The GP performs a basic developmental exam and notes the following: the baby can sit straight unsupported but cannot stand, she can transfer blocks between her hands with a palmar grasp, she favours her right hand over her left, she babbles mostly incoherently, and she is not afraid of strangers.
Which of these findings is abnormal?
A. The baby can sit straight unsupported but cannot stand
B. She transfers blocks between her hands with a palmar grasp
C. She favours her right hand over her left
D. She babbles mostly incoherently
E. She is not afraid of strangers
C. She favours her right hand over her left
A baby should not show a hand dominance until they are at least a year old; if this occurs beforehand it suggests an injury to the arm they are avoiding using. This seems like a niche fact, but is one paediatricians will repeatedly emphasise.
The other developmental stages are very normal for a nine month-old baby. It is very important to familiarise yourself with developmental limits, so as to assess children for any delay. Lissauer’s Illustrated Textbook of Paediatrics is very useful for this.
Limit ages are the age by which 97.5% of children develop a skill (they are two standard deviations from the median). Although a child who misses limit ages may not have underlying pathology, there is an increased likelihood some is present. Below are the main limit ages for each field of development according to Lissauer.
Gross Motor: 4 months - head control 9 months - sits unsupported 12 months - stands with support 18 months - walks independently
Vision and Fine Motor:
3 months - fixes on objects and follows them visually
6 months - reaches for objects
9 months - transfers objects between hands
12 months - has developed a pincer grip
Hearing, Speech, and Language: 7 months - polysyllabic babble 10 months - consonant babble 18 months - can say 6 words with meaning 2 years - joins words together 2.5 years - 3-word sentences
Social Behaviour: 8 weeks - smiles 10 months - fears strangers 18 months - can feed self with a spoon 2-2.5 years - symbolic play (e.g. pretending a wooden block is a car/ phone) 3-3.5 years - Interactive play
A 2.5 year-old child is brought to the GP by his mother because he has not yet begun to climb stairs, which she read he should have started doing by this age. The GP notices the child has a waddling gait and walks around on his tip-toes. His calves are noted to be unusually developed for a child, and when getting up off the floor, the child raises his hips and then walks his hands back towards his feet and up his legs to get up.
What is the most likely diagnosis?
A. Becker's muscular dystrophy B. Hypothyroidism C. Myasthenia gravis D. Duchenne's muscular dystrophy E. Spinal muscular atrophy
D. Duchenne’s muscular dystrophy
Becker’s and Duchenne’s muscular dystrophy is caused by a mutation resulting in either deficient (Duchenne’s) or depleted and dysfunctional (Becker’s) dystrophin. Mutations are X-linked recessive, and 1/3 of Duchenne’s cases are caused by de novo mutation. Dystrophin is a protein which anchors the membranes of myocytes to the basement membrane. In these conditions, muscle throughout the body dies and is replaced by adipose and connective tissue.
Consequently, the child will display symmetrical shoulder and pelvic girdle weakness, hence they rise from sitting/ lying by ‘walking’ their hands towards their feet (Gower’s sign).
Duchenne’s (1 in 3000) is more common than Becker’s (3-6 in 100,000), and crucially presents between 1-6 years of age, whereas Becker’s presents around 10 years of age. Becker’s also usually has less severe symptoms.
Ultimately, patients generally become wheelchair bound and die of respiratory or cardiac failure. Few Duchenne’s patients live beyond 30, whereas Becker’s patients may live longer and even maintain the ability to walk into adulthood. Management involves physiotherapy/ occupational therapy for mobility supports and exercises, educational support as 20% of Duchenne’s patients have an associated learning disability, genetic counselling of family members, and psychological support.
A 1 week-old baby born at 27 weeks develops respiratory distress. They are noted to be bradycardic with an unstable temperature, and the abdomen is distended. Furthermore there is a petechial rash, and gross blood in the stool. An ABG reveals a metabolic acidosis. Necrotising enterocolitis is diagnosed after an abdominal x-ray shows loops of distended bowel, pneumoperitoneum, and air in the portal tract. The baby is given I.V. fluids and has an NG tube inserted, and is sent for bowel resection after which they are transferred to PICU for mechanical ventilation and inotrope support.
Which of the following is NOT associated with necrotising enterocolitis?
A. Feeding with cow's milk formula instead of breast milk B. Birth before 37 weeks gestation C. Mortality rate of ~10% D. Malnutrition later in life E. Neurodevelopmental sequelae
C. Mortality of ~10%
This is severe necrotising enterocolitis. The aetiology is uncertain, but hypothesised to be due to bacteria leaking through the epithelium of an immature gut, causing inflammation which further impairs the epithelial barrier. This leads to bowel necrosis causing very serious systemic illness. Ischaemia/ hypoxia is a major risk factor, and there is a higher incidence in non-breastfed babies.
The first signs of necrotising enterocolitis are fairly generic - vomiting and feed intolerance. As the condition progresses, the abdomen becomes distended and blood may appear in the stool. From this point the infant can rapidly progress to shock, and may be accompanied by metabolic acidosis, thrombocytopenia, and neutropenia. An AXR will reveal an enlarged abdomen with distended bowel loops, possibly with air in the portal tract, and pneumoperitoneum if the bowel has perforated.
Management is to make the patient nil by mouth, then use a nasogastric tube to decompress the bowel and give broad-spectrum I.V. antibiotics, and correct derangement of electrolytes or decreases in blood/ platelets. Surgery may be needed to resect necrotic bowel.
Classified with Bell criteria. The average mortality ranges between 20-50%. Complications include normal surgical risks: adhesions, strictures, abscesses, and fistulas, as well as malabsorption from bowel resection (short-gut syndrome), and TPN-associated cholestasis.
A 2 year-old baby is brought to A&E by her father because she has been coughing for several days, has developed a fever, and has been vomiting. The father says she had been mildly ill with a runny nose and a small fever for a week before things got worse. During the history you hear the girl burst into fits of coughing followed by sudden massive inspiration efforts.
What is the most likely causative organism?
A. Respiratory syncytial virus B. Parainfluenza C. Adenovirus D. Bordetella Pertussis E. Influenza
D. Bordetella Pertussis
This is a history of whooping cough: a disease caused by Bordetella pertussis which has its peak incidence in 3 year-olds. Bordetella pertussis is vaccinated against and so the incidence has declined massively, but it still occurs. Whooping cough has a markedly increased mortality in infants >6 months, who may not exhibit the classic whoop, but may instead have apnoeic episodes. Whooping cough is a notifiable disease which must be reported to public health authorities.
Whooping cough occurs in three stages, which are most clearly defined in young children:
Catarrhal stage - lasts 1-2 weeks with generic ‘ill’ symptoms e.g. runny nose, low fever, sneezing, some coughing. Patients are most infectious in this stage
Paroxysmal stage - lasts 1-6 weeks and features the classic fits of coughs followed by a massive inspiratory effort causing a ‘whooping’ sound. This stage also features vomiting, dyspnoea and sometimes seizures
Convalescent stage - the cough becomes chronic and slowly disappears
Complications include secondary infections, dehydration, weight loss, and seizures due to encephalopathy. If encephalopathy occurs, 1/3 die, 1/3 are permanently impaired, and 1/3 recover completely.
Which option is not a contributing factor to the aetiology of physiological neonatal jaundice?
A. Absence of normal gut flora
B. Inherent instability of fetal haemoglobin
C. Activity of a factor in breast milk which inhibits an enzyme important for bilirubin excretion
D. Low levels of glucose-6-phosphate enzyme
E. Immaturity of hepatic enzyme function for bilirubin uptake and conjugation
D. Low levels of glucose-6-phosphate enzyme
All the other options are physiological causes of neonatal jaundice. G6PD deficiency is a pathological cause of jaundice: episodes of haemolytic anaemia are triggered by oxidative stress as the normal enzymatic pathways for compensating are deficient.
NB: Though breast-milk jaundice may be referred to as its own entity, it is still considered physiological.
How does phototherapy treat neonatal jaundice?
A. By inducing enzymes in the skin to aid in bilirubin breakdown
B. By directly destabilising bonds which allow easier breakdown of bilirubin
C. By converting bilirubin to the water-soluble stereoisomer
D. By stabilising fetal haemoglobin to slow the rate of haemolysis
E. By causing mild inflammation in the skin, stimulating release of phagocytes which take up bilirubin from the blood
C. By converting bilirubin to the water-soluble stereoisomer
Bilirubin may exist as either one of its stereoisomers; trans-bilirubin is lipid-soluble and so may cross the blood-brain barrier, whereas cis-bilirubin is water-soluble and so can be excreted via the kidneys. Photo therapy with a specific wavelength of blue light (450nm) converts trans to cis in the skin, allowing bilirubin to be excreted and preventing it from crossing into the brain.
A 2 year-old is brought in by his mother because she has noticed a rash and redness and swelling of his hands. She says he has also been feverish for the past week, and that paracetamol has not helped much in controlling it (she went to her GP but was told to go home and rest her child). On examination, the rash is diffuse and maculopapular, covering the trunk. You notice the child has conjunctivitis, the lips are cracked and the tongue appears red, and a quick lymph node exam reveals enlarged cervical lymph nodes. You measure his fever at 40.
Given the most likely cause, how would it be diagnosed?
A. PCR B. Coronary angiography C. With a throat swab D. An echocardiogram E. Based on clinical symptoms
E. Based on clinical symptoms
Kawasaki disease is diagnosed by the presence of a high fever for 5 or more days with 4 or more of the following criteria present:
erythema/oedema of hands and feet followed by desquamation
diffuse maculopapular rash (usually within 5 days)
bilateral, non-exudative conjunctivitis
erythema of lips and oral mucosa/ strawberry tongue
cervical lymphadenopathy (extending 1.5 cm or more), usually unilateral.
Coronary angiography can be used to monitor coronary arteries for aneurysms, but an echocardiogram is less invasive and more routinely used to monitor. However neither of these tests is used in diagnosing Kawasaki disease.
Kawasaki disease is a childhood acute febrile illness affecting small-medium blood vessels. Its aetiology is slightly mysterious, as it is not known what causes it. Japanese people are far more susceptible to the disease wherever in the world they are, and there is a theorised infectious trigger due to the seasonality of the disease, and supposed community outbreaks observed.
Disconcertingly, serious infectious diseases (scarlet fever, staphylococcal scalded skin syndrome, measles) may present similarly to Kawasaki disease, hence antibiotics are given to patients until infection has been excluded. Kawasaki disease is self-limiting and resolves in 4-8 weeks, but can cause aneurysms of the coronary arteries, leading to MI or ischaemic heart disease. IVIG, aspirin, and steroids may be used to prevent coronary artery damage.
A mother brings her 4 week-old neonate to hospital as he has become drowsy and irritable. On examination the child is feverish, and the mother says he has been having fewer wet nappies and has not been feeding. A short time later, the baby has a generalised seizure. Examination reveals a tense anterior fontanelle, respiratory distress, and backwards arching of the neonate’s neck. A quick blood glucose reveals hypoglycaemia. The mother’s medical notes say the baby was born at 34 weeks, there was prolonged rupture of membranes, and the mother had chorio-amnioitis during pregnancy.
What is the most likely diagnosis?
A. Kernicterus B. Febrile seizure secondary to sepsis C. Epilepsy D. Congenital Rubella infection E. Group B Streptococcus infection
E. Group B Streptococcus infection
Group B Streptococcus refers to one species: Streptococcus agalactiae, which is the most common cause of neonatal sepsis. This is a history of meningitis with sepsis, as indicated by the tense fontanelle (raised ICP), arched neck (opisthotonus - spasm of extensor muscles causing arching of the neck and back), and seizure.
Risk factors include: chorio-amnioitis during pregnancy, prematurity, prolonged rupture of the fetal membranes during labour, Group B Streptococcus detected in maternal urine during pregnancy, and previous delivery of a Group B Streptococcus infected neonate.
The other organisms which may cause meningitis, and which neonates are especially susceptible to, are E. coli and L. monocytogenes.
NB: hypoglycaemia can occur in sepsis so glucose monitoring is important
Which of the following statements about rheumatic fever is true?
A. Symptoms usually develop ~12 weeks after resolution of a group A beta-haemolytic strep infection
B. The appearance of a pink rash consisting of macules with a faded centre, along with painless pea-sized subcutaneous nodules on extensor surfaces, is a sensitive marker for rheumatic fever
C. The aortic valve is most often affected, but treatment of rheumatic fever with benzylpenicillin improves outcomes
D. It is one of the most common paediatric heart diseases in the world
E. It most often presents with signs and symptoms of carditis
D. It is one of the most common paediatric heart diseases in the world
Rheumatic fever is a systemic inflammatory response to infection with Group A Beta-haemolytic Streptococcus - i.e. Streptococcus pyogenes. The infection usually affects the upper respiratory tract causing a sore throat, with rheumatic fever symptoms manifesting 2-6 weeks later, hence ‘A’ is wrong. Many autoimmune conditions triggered by infection will present within this 2-6 week window (rheumatic fever, reactive arthritis, IgA nephropathy, post-streptococcal glomerulonephritis)
Rheumatic fever is caused by the antibodies against S. pyogenes which cross-react to damage the body’s own tissues. Joints and skin may be affected, and most importantly the heart can be damaged. Inflammation and oedema of the heart valves leads to thickening and retraction, causing valvular stenosis or regurgitation. 80% of acute cases will progress to chronic disease, so ‘B’ is incorrect.
Rheumatic fever most commonly presents with a steadily migrating polyarthritis (80% of cases) and frequently features signs or symptoms of myo, endo, or pericarditis (50% of cases). Skin manifestations are comparatively uncommon, as is the classic Sydenham’s chorea (jerking movements manifesting months after the initial S. pyogenes infection).
Whilst rheumatic fever is now extremely rare in the developed world (<1 in a million), it is still very common in parts of the developing world, especially where there is malnutrition, overcrowding, high levels of socioeconomic disadvantage, and poor access to healthcare. In areas of sub-Saharan Africa the incidence is as high as 1 in 300, so ‘D’ is right. The mitral valve is most often affected, and benzylpenicllin has no effect on rheumatic fever because it is not driven by S. pyogenes infection, only triggered by it, so ‘C’is wrong.
Management centres on supportive measures: reducing inflammation with NSAIDs and corticosteroids which manages symptoms and prevents cardiac damage, and giving antibiotics to eradicate Streptococcus pyogenes if the triggering infection persists.
NB: giving benzylpenicillin will in no way treat rheumatic fever, it will only treat the S. pyogenes infection if it still persists.
A 4 year-old boy is brought to see the GP by his mother as she has noticed a rash. The rash consists of small pustules which are golden and crusted over. The rash covers much of the face and trunk of the child, and is accompanied by enlarged local lymph nodes.
What is the most likely diagnosis?
A. Eczema B. Dermatitis herpetiformis C. Impetigo D. Eczema herpeticum E. Erythema nodosum
C. Impetigo
This is non-bullous impetigo, which is caused by Staphylococcus infection of the epidermis, resulting in sores which rapidly burst, leaving a golden crusted rash. Impetigo is a superficial infection of the skin (epidermis), in contrast to other deeper infections which can be more serious (cellulitis, erysipelas). Though not serious, impetigo is highly infectious.
A 2 year-old boy is brought to A&E with a cough and vomiting, examination reveals tachynpnoea and lethargy. The F2 manages to get some sputum for culture, and Psuedomonas aeruginosa is grown. On further questioning, the mother says the child has previously been admitted for pneumonia, and has not gained as much weight as the chart she was given says he should. The child was born abroad, and it seems not all standard neonatal checks were performed.
Given the suspected diagnosis, what is the most appropriate test to confirm?
A. Serum alpha-1 antitrypsin B. Sweat test C. Spirometry D. X-ray of epiphyses E. Serum IGF
B. Sweat test
This is a history of cystic fibrosis - a genetic defect in the CFTR protein which usually transports chloride ions across the cell membrane. This leads to thick mucous which blocks the pancreatic duct, the lungs, and the bowel (infants may be obstructed and not pass the meconium). Accordingly, CF patients may be malnutritioned, fail to thrive, have hyper-inflated lungs, and may well have a history of previous admissions for pneumonia. CF patients are particularly vulnerable to infection with Pseudomonas aeruginosa, which is best treated with aminoglycoside antibiotics (gentamoicin, tobramycin).
To diagnose CF, sweating is stimulated with pilocarpine, the sweat is collected and the concentration of chloride ions is measured. A concentration of >60mmol/L is considered a strong indicator of CF, whereas between 30-60 is considered ambiguous (these values vary slightly with age).
Cystic fibrosis would usually be detected as part of the heel prick test (a standard test for multiple genetic disorders, also known as Guthrie’s test) which looks for an increase in trypsinogen. This is a very useful test.
NB: Fertility in CF males is usually reduced or absent, as the vas deferens are malformed or fail to form. Fertility is better preserved in female patients.
A 1 year-old is brought to A&E with a 2 day history of vomiting and diarrhoea. On examination she is alert and feverish, but has cool peripheries and reduced skin turgor. Gastroenteritis is suspected.
What is the most likely causative organism?
A. Campylobacter jejuni B. Adenovirus C. Norovirus D. Rotavirus E. Escherichia coli
D. Rotavirus
Rotavirus accounts for up to 60% of cases of gastroenteritis in children in the developed world. C. jejuni is the most common bacterial cause.
This is a standard history of gastroenteritis, which is in itself a fairly minor problem, but the dehydration it causes can be dangerous and is a major cause of death in children in the developing world. This patient is moderately dehydrated and so needs oral rehydration therapy, but the infective cause is usually not addressed, as it will self-resolve. A sunken fontanelle, acidosis, oliguria, and lethargy are all signs of more severe dehydration developing, which would require I.V. rehydration.
A 7 year-old boy presents with a high pitched noise on expiration, noticed by his mother, that started a couple of days after a cough and a runny nose. Upon further questioning, you learn the child is usually very active and plays football, and has just started the new term at school. There is no significant family medical history, and it has never happened before.
What is the best next step in this child’s management?
A. Admit him to hospital
B. Give a SABA via a spacer
C. Give 0.15mg/ kg oral dexamethasone
D. Prescribe a short course of oral prednisolone
E. Give amoxicillin and advise NSAID or paracetamol for symptom control
B. Give a SABA via a spacer
This is an isolated case of wheezing on a background of cough and rhinitis, indicating viral induced wheeze. There is nothing else in the history to suggest asthma.
Though this is not a case of asthma, acute wheeze is assessed and managed similarly. This child has no concerning features indicating that he needs to be admitted to hospital. Therefore it is appropriate to give Salbutamol via a metered dose inhaler and using a spacer. Up to 10 puffs can be given, allowing the child to take 5 deep breaths with each puff.
Oral dexamethasone would be appropriate for croup that did not require admission to hospital, and Amoxicillin would be appropriate for a mild community-acquires pneumonia.
A 3 year-old is brought to A&E with breathing difficulties. On examination the child is generally unwell, pyrexial, and tachycardic. The child is drooling and sitting forward, and stridor can be heard. The father states that the child was perfectly well before today.
What is the most likely diagnosis?
A. Anaphylaxis B. Croup C. Whooping cough D. Inhaled foreign body E. Epiglottitis
E. Epiglottitis
Epiglottitis has become a rare disease since the introduction of the Hib vaccine (Haemophilus influenzae type B) as H. influenzae is the major causative organism. Since the Hib vaccine, incidence has been reduced by 95%, but epiglottitis can still be caused by S. aureus or group A Streptococcus (S. pyogenes). Epiglottitis may also be caused by burns or direct trauma.
Epiglottitis is an important differential of upper airway obstruction in a child. Other important differentials include: inhaled foreign body, croup, diptheria, and anaphylaxis. Epiglottitis can be differentiated from these other causes by the generally unwell clinical picture - the child has signs of systemic infection (fever, tachycardia). The child may also drool as they are unable to swallow their secretions because of the intense pain. They will be unable to eat or drink, and may well not be able to speak. Furthermore, epiglottitis tends to manifest itself quickly, often within a day, whereas croup is preceded by an upper airway infection and takes several days to develop,
This is very important in a patient with suspected epiglottitis:
DO NOT ATTEMPT TO EXAMINE THE THROAT
Examining the throat may distress the child which can precipitate an acute airway obstruction. A patient with epiglottitis should be admitted to PICU, and an ENT surgeon should be on hand in case a tracheostomy is required. An anaesthetist is needed to perform laryngoscopy to diagnose epiglottitis, and in case intubation is needed (this may well be done electively before obstruction occurs).
A tall 14 year-old boy is brought to clinic because of knee pain that has persisted for two months. He notices the pain most when he plays basketball, which he does a lot, but not so much at rest. He can’t remember any trauma that could have caused the pain. OE there is tenderness and swelling just bellow the patella, and extension of the knee against resistance elicits pain.
What is the most likely diagnosis?
A. Idiopathic juvenile arthritis B. Septic arthritis C. Osgood-Schlatter disease D. Synovitis of the knee E. Tibial fracture
C. Osgood-Schlatter disease
Osgood-Schlatter disease is the most common knee disorder in adolescents, and is particularly common in young boys who are highly active and have recently had a growth spurt. High impact sports are a risk factor, and it is bilateral in 25-50% of cases.
Osgood-Schlatter disease is inflammation of the patellar tendon at the tibial tuberosity. Force transmitted through the quadriceps causes strain and osteochondritis. This can also cause part of the tibial tuberosity to fracture off the femur.
A history of Osgood-Schlatter disease will describe a pain around the tibial tuberosity worsened by exercise but relieved by rest, which will often have been present for some time before the patient presents. Examination will show tenderness over the tibial tuberosity where the patellar tendon inserts, and the pain will occur on knee extension against resistance. The hamstrings and quadriceps of these patients are frequently weak and inflexible, and stretching forms a part of their rehabilitation. Examination of the actual knee joint should be unremarkable.
NB: when examining the knee, it is good practice to also examine the hip, as knee pain is often actually pain referred from the hip
Management is typically conservative: NSAIDs and the RICE protocol (rest, ice, compress, elevate) are used. Surgery is rarely required to fix a resultant avulsion fracture.
A 2.5 year-old child’s development is assessed, and their peak abilities are as follows: runs steadily, can build a tower of 7 blocks, knows a few different words, and can feed itself with a spoon.
Which fields show some delay?
A. Gross and fine motor B. Hearing, speech and language only C. Fine motor only D. Fine motor and social E. Hearing, speech and language and social
E. Hearing, speech and language and social
Limit ages are the age by which 97.5% of children develop a skill (they are two standard deviations from the median). Although a child who misses limit ages may not have underlying pathology, there is an increased likelihood some is present. Below are the main limit ages for each field of development according to Lissauer.
Gross Motor: 4 months - head control 9 months - sits unsupported 12 months - stands with support 18 months - walks independently
Vision and Fine Motor:
3 months - fixes on objects and follows them visually
6 months - reaches for objects
9 months - transfers objects between hands
12 months - has developed a pincer grip
Hearing, Speech, and Language: 7 months - polysyllabic babble 10 months - consonant babble 18 months - can say 6 words with meaning 2 years - joins words together 2.5 years - 3-word sentences
Social Behaviour: 8 weeks - smiles 10 months - fears strangers 18 months - can feed self with a spoon 2-2.5 years - symbolic play (e.g. pretending a wooden block is a car/ phone, pretending to feed cuddly toys) 3-3.5 years - Interactive play
An 18 hour-old neonate begins vomiting soon after birth; the vomiting is persistent and green, and the abdomen is distended. The baby passed a dark tarry initial stool, but has not passed stool since. There was polyhydramnios detected during the pregnancy, and the baby is known to have Down syndrome. An AXR shows the ‘double bubble’ sign.
What is the most likely diagnosis?
A. Malrotation of the intestine B. Pyloric stenosis C. Oesophageal stenosis D. Duodenal atresia E. Large bowel volvulus
D. Duodenal atresia
Duodenal atresia is where the duodenum ends in a blind pouch, distal to the ampulla of Vater in 75% of cases. The exact aetiology is unknown.
Duodenal atresia is often diagnosed antenatally on an ultrasound scan, but if not, it presents with persistent vomiting in the first day of life. If the atresia is below the ampulla of Vater, the vomit will be bile-stained (green). Duodenal atresia is associated with Down syndrome and polyhydramnios (because the baby can’t swallow and absorb amniotic fluid).
The ‘double bubble’ sign refers to the pockets of air in the proximal duodenum and stomach separated by the pyloric sphincter. Distal to the point of atresia, there will be no air visible in the duodenum.
Management: the baby is made nil by mouth and the bowel is decompressed with a naso-gastric tube. Surgery is used to open the duodenum and examine for malrotation (an associated condition) or any other atretic segments.
An obese 13 year-old boy presents with bilateral knee pain of one month’s duration. Examination of the knee is unremarkable and reveals no tenderness or restricted movement. However, when examining the hip as a matter of course, you find movement is restricted, particularly internal rotation. He also has weak hip abduction, and reduced hip flexion. When you flex his hip, you notice it also unavoidably externally rotates. His gait is waddling. His notes show he is also under investigation after a blood test showed low T4.
What is an x-ray most likely to show?
A. A normal picture, signs may well have not appeared yet
B. Antero-superior displacement of the epiphysis
C. Postero-inferior displacement of the epiphysis
D. Sclerosis and flattening of the epiphysis
E. Supero-lateral displacement of the epiphysis
C. Postero-inferior displacement of the epiphysis
Slipped capital/ upper femoral epiphysis (SCFE) is the most common hip disorder affecting adolescents, but diagnosis is often delayed as the presentation may be misleading. It occurs most commonly during the adolescent growth spurt in males (10-15), and particularly in obese children. There is also significant variation in incidence by race, with black, hispanic, and Pacific island populations all having a greater incidence than white populations.
In SCFE the epiphysis is displaced postero-inferiorly to the metaphysis of the femur. Examination may show reduced internal rotation, weak abduction, and obligate external rotation on flexion of the affected hip (Drehmann’s sign).
Around 20% of cases are bilateral at the time of presentation, and pain in the hip can be referred to the knee, as has occurred in this case. There is also an established association with endocrine disorders such as hypothyroidism and hypogonadism.
An x-ray is used to confirm the diagnosis, and surgical intervention is required to prevent avascular necrosis of the head of the femur.
A 9 year-old girl is brought in by her father as he has noticed a rash on her legs which does not disappear when a glass is pressed to it - he is very worried about meningitis. On questioning the girl complains of abdominal and lower limb joint pain. On examination she has a maculopapular purpuric rash on her legs and buttocks, along with swelling of her knees and ankles, and generalised swelling of her lower legs. A urine dipstick shows protein+++ and small amounts of blood.
What is the most likely diagnosis?
A. Haemolytic-uraemic syndrome B. Post-streptococcal glomerulonephritis C. IgA nephropathy D. Henoch-Schonlein purpura E. Thrombotic thrombocytopenic purpura
D. Henoch-Schonlein purpura
Henoch-Schonlein purpura is an IgA-mediated vasculitis characterised by a triad of symptoms: arthralgia (commonly of the ankles), purpuric rash over the trunk, extensor surfaces, and buttocks, and colicky abdominal pain. Kidney involvement is common, and may be seen in the form of mild proteinuria and haematuria, which may progress to full nephrotic syndrome.
HSP is most common in children aged 3-10, though it may present in adults. Complications include intussception and chronic renal failure (though this is not common).
This particular triad of symptoms exhibited by the patient make the other options unlikely, although haemolytic-uraemic syndrome is a particularly good differential as it can cause purpuric rash and renal impairment. HUS is a life-threatening condition with 5-30% mortality however, whereas HSP is generally self-resolving.
A 7 year-old boy is brought to see the GP as his mother has noticed him limping for some time. She initially dismissed it as an injury sustained playing football, but the limp has remained. On examination, the thigh on the affected side appears smaller than the other. On moving the affected leg, you find abduction and internal rotation are impinged.
Given the most likely diagnosis, what is the most appropriate next step?
A. Perform a joint aspiration of the hip B. Prescribe prednisolone with NSAIDs C. Ultrasound of the hip D. Perform an MRI of the hip E. Bilateral AP and frog-leg pelvic x-ray
E. Bilateral AP and frog-leg x-ray
This is a case of Perthes disease (also known as Legg-Calvé-Perthes disease) which is idiopathic avascular necrosis of the capital femoral epiphysis. The presentation is similar to slipped capital femoral epiphysis, but usually occurs in younger children (5-10), though similarity to SCFE boys are five/ six times more likely to be affected than girls. Perthes disease is often missed because it is fairly rare, is mimicked by the common transient synovitis secondary to viral infection, and because musculoskeletal complaints are often dismissed in children as growing pains or generic bumps and bruises.
Both hips should be x-rayed as 25% of cases of Perthe’s disease are bilateral. These cases do not tend to present synchronously, but bilateral x-rays may help detect a previously undiagnosed pathology in the other hip.
The two can be differentiated between on x-ray: SCFE will show postero-inferior displacement of the capital femoral epiphysis, whereas Perthes disease will show decrease in the size and opacity of the epiphysis in early stages, and flattening, fragmentation, and sclerosis later on.
The course of the disease is variable, with a more favourable prognosis in younger patients, and in boys compared to girls of the same age because they are generally less matured. Management consists of rest and physiotherapy in less severe cases where good remodelling is likely, but surgery may be required in more severe cases. Complications can include deformity and osteoarthritis later in life.
More on Perthes disease here:
https://www.bmj.com/content/349/bmj.g5584.full
A panicked father brings his 3 year-old daughter to A&E after she collapsed. He says she had been crying then suddenly stopped breathing, went blue, and collapsed. Whilst unconscious his daughter made a series of brief jerking movements and her back arched. She is now conscious but drowsy, though a neurological exam shows no deficits.
What is the most appropriate next step?
A. CT head B. Reassure and discharge C. Perform an EEG D. Refer to a neurologist E. Perform an ECG
B. Reassure and discharge
This is a cyanotic breath-holding attack, the mechanism of which is unclear but can be triggered by emotional upset. The child cries and holds their breath in expiration, causing rapid-onset cyanosis and loss of consciousness. Whilst unconscious, the child may well have a few tonic-clonic jerks and exhibit opsithotonos (rigidity and backwards arching). The child may be drowsy afterwards, this does not necessarily indicate a post-ictal state.
The child should be examined to exclude concerning causes and to assess any damage sustained in the fall, after which they can be discharged. Parents should be reassured and advised not to reinforce the behaviour.
A 9 month-old baby is brought to A&E by her panicking father because she suddenly began to vomit profusely at home. The baby is extremely distressed and has a distended abdomen; she throws up again in hospital and you notice the vomit is bright green.
What is the most likely diagnosis?
A. Pyloric stenosis B. Duodenal atresia C. Mid-gut volvulus D. Hirschprung disease E. Laryngomalacia
C. Mid-gut volvulus
This is a classic picture of bowel obstruction in a child. The bright green colour of the vomit suggests the presence of bile, meaning that the obstruction is below the ampulla of Vater (where the hepatopancreatic duct joins the duodenum). Hirschprung’s disease and duodenal atresia are both unlikely as they would present very soon after birth (Hirschprung’s disease can cause a chronic disease, but you would expect some mention of chronic constipation and failure to thrive).
A mother brings her 4 month-old son to see the GP because he has been coughing and wheezing for the past week. On examination he is mildly pyrexial and irritable, and has been feeding less than normal. His breathing rate is increased, as is his work of breathing as evidenced by nasal flaring and subcostal recession. Auscultation reveals a widespread expiratory wheeze.
What is the most likely cause of the symptoms?
A. Parainfluenza infection B. Asthma C. Inhaled foreign body D. RSV infection E. Adenovirus infection
D. RSV infection
This is a history of bronchiolitis - a seasonal infection which is the most common LRTI in infants, especially aged 3-6 months.
Bronchiolitis initially causes coryzal symptoms (runny nose, cough, sore throat, sneezing). As it progresses the infant will become short of breath, will feed poorly, and will classically develop a widespread expiratory wheeze. In severe cases the child can become cyanotic and lethargic. Management is supportive, but may still be significant in serious disease (e.g. ventilation).
Prevention may sometimes be given using Palivizumab (RSV monoclonal antibody) for the winter months in at risk children (congenital heart defect, extreme prematurity, immunodeficiency, some lung diseases).
A father brings his 3 year-old daughter to see the GP because she become increasingly distressed over the last 4 weeks. On questioning, the father says she has been passing stool more infrequently since the problems began (only a couple of times a week), although her nappies are often slightly soiled as of the past few days. When she does pass stool, it is large and hard. The father reports his daughter seems to strain when defecating, which causes pain. He says this has happened before, about a year ago, but only persisted a week. The child’s birth records indicate her meconium passage was not delayed, and she has not been seen for any related medical complaints before. She is generally well and following her height and weight centiles. Abdominal examination reveals some distension and a soft palpable mass in the left lower quadrant
What is the most important intervention for this child?
A. Encourage her to increase her fluid intake, dietary fibre and exercise
B. Introduce scheduled toileting with a positive reward scheme such as a star chart
C. Refer for bowel disimpaction under anaesthesia
D. Start polyethylene glycol with electrolytes such as Movicol
E. Start a stimulant laxative such as Senna
D. Start polyethylene glycol with electrolytes such as Movicol
This is a very standard and simple case of functional constipation - another term for idiopathic constipation. These account for 90-95% of cases of constipation, and an actual underlying organic cause is fairly uncommon.
Constipation develops from a vicious cycle of pain on defecation, leading to stool retention. The retention causes the stool to dry out and accumulate causing more pain on defecation. Over time the rectum will lose its sensitivity to stretch and some of its contractile strength. Accumulation of faeces leads to overflow incontinence (the word encopresis is sometimes used, and it means underwear soiling in a child who has previously been toilet trained).
The NICE guidelines specifically state that dietary/ lifestyle changes alone should not be first line treatment for idiopathic constipation. This patient is also faecally impacted, as evidenced by the palpable abdominal mass (stool) and overflow soiling. First line treatment is with polyethylene glycol 3350 + electrolytes (Movicol) which retains water in the bowel to soften stool. A stimulant laxative (e.g. Senna) can be added if there is no change after 2 weeks, and either a lone stimulant laxative, or a stimulant with an osmotic laxative (e.g. lactulose), if Movicol is not tolerated.
This should be given along with advice on dietary fibre and water intake, and information on behavioural changes (schedules, reward systems etc.). However these interventions will not solve the faecal impaction, hence it is more important in this case to prescribe the Movicol.
https://www.nice.org.uk/guidance/cg99/chapter/1-Guidance#diet-and-lifestyle
A 7 year-old boy - a known asthmatic - is brought to A&E by his mother with acute SOB. He is too breathless to speak, but basic obs show O2 sats of 93%, HR 140bpm, and RR 35bpm. He is immediately given high flow oxygen, then salbutamol via a nebuliser, but the initial response is poor.
What is the most appropriate next step in his management?
A. I.V. Salbutamol B. I.V. Aminophylline C. I.V. Magnesium Sulphate D. Nebulised Ipratropium Bromide E. O.D. Oral prednisolone
D. Ipratropium Bromide
Asthma attacks are divided into three classes which are listed at the bottom.
High flow oxygen should be given to elevate O2 sats above 94%. First line treatment is a short-acting Beta2 agonist, given through a metered dose inhaler and spacer device, or a nebuliser for a severe attack. Anyone with life-threatening asthma, or a severe attack that persists beyond first-line therapy should be admitted, as should anyone with additional risk factors (e.g. learning disability, poor adherence, aged <18, previous severe attack, pregnancy).
If this is unsuccessful, nebulised ipratropium bromide should be added. In this scenario, nebulised salbutamol has not resolved the attack, so ipratropium bromide should be added. Magnesium sulphate can then be given additionally, especially in children presenting with O2 sats >92%.
I.V. salbutamol may be used in severe asthma where bronchodilators fail, and aminophylline can be given in similar circumstances, but neither are used as second line.
Prednisolone should be prescribed O.D. for all cases of acute asthma, but is not part of the immediate management of this patient. I.V. hydrocortisone can be given for patients unable to tolerate oral medication.
(https://cks.nice.org.uk/asthma#!scenario:2)
Moderate acute: PEFR >50-75% best/predicted (at least 50% best or predicted in children), normal speech with no severe features.
Severe acute: PEFR 33-50% best/predicted, (less than 50% best or predicted in children) or RR of at least 25/min in >12 years, 30/min in 5-12 years, and 40/min in 2-5 years, HR at least 110/min in >12 years, 125/min in 5-12 years, and 140/min in 2-5 years, or inability to complete sentences in one breath, or accessory muscle use, or inability to feed (infants), with oxygen saturation of at least 92%.
Life-threatening acute: PEFR less than 33% best or predicted, or oxygen saturation of less than 92%, or altered consciousness, or exhaustion, or cardiac arrhythmia, or hypotension, or cyanosis, or poor respiratory effort, or silent chest, or confusion.
A 5 year-old child with known severe food allergies is brought to hospital by ambulance having ingested peanuts at a restaurant. His epipen was used at the restaurant and he has responded well to it, he is also being given high flow oxygen through a non-rebreathable mask. On examination he is breathing relatively easily, though he still seems unwell and is tachycardic and hypotensive.
What is the next step in his management?
A. Neubulised salbutamol B. I.V. crystalloid bolus at 20mL/kg C. I.V. chloramphenamine D. I.V. hydrocortisone E. I.V. magnesium sulphate
B. I.V. crystalloid bolus at 20mL/kg
This is a history of anaphylaxis, which is characterised by a massive vasodilation in response to IgE cross-linking and mast cell degranulation. This causes distributory shock, as histamine released from mast cells makes vessels more permeable, allowing fluid will leave the circulation. Restoring circulating volume is therefore critical.
The first step in anaphylaxis is to give an EpiPen - a dose of adrenaline which acts on alpha and beta receptors to relax smooth muscle in the airways, and constrict smooth muscle in the vasculature. This temporarily eases breathing and improves blood pressure, but the half life of adrenaline is 3-5 minutes so this does not last long or solve the underlying issue. I.V. saline is needed to restore the circulating volume and prevent ischaemic damage to the organs.
Following resolution of the immediate emergency, chloramphenamine and hydrocortisone are given. Patients will frequently develop breathing difficulties as part of anaphylaxis, which complicates the management as the airway and breathing should be prioritised in an A-E approach. Nebulisers and high flow oxygen should be used as needed.
20mL/kg is the standard fluid bolus for a paediatric medical emergency.
A 6 year-old presents to A&E with abdominal pain and vomiting, but no diarrhoea. When asked, the parent reveals that their child has been seeing the doctor regarding recent weight loss. On examination the child is tachycardic, tachypnoeic, and has a prolonged capillary refill time. A VBG shows reduced pH and bicarbonate.
What is the most appropriate next step in this patient’s management?
A. I.V. bicarbonate B. I.V. insulin infusion C. High flow oxygen D. Insert an NG tube and make the patient NBM E. I.V. fluids
E. I.V. fluids
This is a history of diabetic ketoacidosis, a diagnosis that should always come to mind when seeing a child presenting with vomiting but no diarrhoea. The recent weight loss is suppsoed to imply that the child is an undiagnosed recent-onset type I diabetic. The first step in DKA is to rehydrate the patient, after which insulin can be given as an infusion. Rehydration should be carried out steadily to avoid the risk of central pontine myelinolysis. Potassium must be measured when giving insulin, as insulin can cause a dangerous hypokalaemia which will disrupt cardiac rhythm. Though I.V. bicarbonate seems in principal a good way to correct acidosis, it is not frequently used.
NB: a VBG is a good measure of pH despite the CO2 difference
A 9 year-old known epileptic is brought to hospital by ambulance. He was found unconscious and fitting by his mother, who administered buccal midazolam. This did not terminate the seizure, so a 4mg bolus of I.V. lorazepam was given in the ambulance: this too fails to terminate the seizure.
What is the standard next step in this child’s management?
A. Rectal diazepam B. Check blood glucose C. I.V. phenytoin D. Repeat I.V. lorazepam bolus E. Rapid sequence induction of anaesthesia
C. I.V. phenytoin
Rectal diazepam (A) is an alternative to buccal midazolam given for an epileptic seizure in the community. Checking blood glucose (B) should be one of the first things done in this scenario, as part of an A-E approach (Don’t Ever Forget Glucose) and would have been done already. I.V. lorazepam (D) should be given on arrival to hospital, or in the community if possible, but once it has failed the next step is to give either I.V. phenytoin (C) or I.V. phenobarbitol. Rapid sequence induction of anaesthesia is the absolute last resort to resolve status epilepticus.
NICE guidelines for management of status epilepticus: https://www.nice.org.uk/guidance/cg137/chapter/Appendix-F-Protocols-for-treating-convulsive-status-epilepticus-in-adults-and-children-adults-published-in-2004-and-children-published-in-2011
The accident and emergency triage nurse asks you to look at a 3-year-old child who woke up this morning unwell with a cough and fever. She looks unwell, heart rate is 165, respiratory rate 56, saturations of 96 per cent in air, temperature of 39.3°C and central capillary refill of 4 seconds. She has a mild headache but no photophobia or neck stiffness and you notice a faint macular rash on her torso and wonder if one spot is non-blanching. You ask the triage nurse to move her to the resuscitation area and call your senior to review her. Fifteen minutes later your senior arrives and the spot you saw on the abdomen is now non-blanching and there is another spot on her knee.
What are the three most important things to give her immediately?
A. High flow oxygen, IV fluid bolus, IV ceftriaxone
B. IV fluid bolus, IV ceftriaxone, IV methylprednisolone
C. High flow oxygen, IV ceftriaxone, IV fresh frozen plasma
D. IV fluid bolus, IV ceftriaxone, IV fresh frozen plasma
E. High flow oxygen, IV ceftriaxone, IV methylprednisolone
A. High flow oxygen, IV fluid bolus, IV ceftriaxone
This is a history of an acutely unwell patient with signs of sepsis, and so you should refer to the ‘Sepsis Six’ guidelines:
Take blood cultutes, urine output measurements, and serial lactates
Give broad spectrum antibiotics, I.V. fluids, and oxygen
The correct answer is (A): she has presented with a classic presentation of meningococcal sepsis. Do not forget to always give sick children oxygen; if the mask makes them more distressed a minimum of wafted high flow O2 may suffice. The child has a prolonged capillary refill and is tachycardic; she should have a fluid bolus (20mL/kg) and be reassessed. As soon as intravenous or intraosseous access is obtained she should be given IV ceftriaxone, but only after the blood culture has been taken. (B) and (E) are incorrect as there is no mention of the child having meningitis.
Currently there is no formal consensus as to whether steroids should be routinely used but administration before or with the first dose of antibiotics has been shown to be beneficial for some types of bacterial meningitis. (C) and (D) are incorrect as you do not yet have clotting results. She will likely need fresh frozen plasma to correct her disseminated intravascular coagulation which is evidenced by the forming non-blanching rash.
This question was reproduced from ‘450 SBAs’
A 2 week-old baby is brought to hospital by her father drowsy and obviously unwell. Her father says she has been vomiting. She is tachypnoeic and tachycardic with a prolonged central capillary refill. She is started on high flow oxygen and I.V. saline immediately. U&Es and a VBG show hyponatraemia, hyperkalaemia, raised urea, acidosis, and hypoglycaemia. You fully expose the baby as part of your A-E approach and notice her genitals seem ambiguous.
What is the most likely cause?
A. 17-hydroxylase deficiency B. Autoimmune destruction of the adrenals C. Pyloric stenosis D. 21-hydroxylase deficiency E. Primary hyperadrenalism
D. 21-hydroxylase deficiency
21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. Deficiency of the enzyme leads to insufficient cortisol production, with the steroid hormone precursors instead being shunted into sex hormone production; this leads to hypervirilisation in girls. The lack of cortisol and aldosterone leads to hyperkalaemia and hyponatraemia. Males do not have altered genitalia and so tend to present with a salt-wasting crisis >1 month of age.
The other forms are 11B and 17a hydroxylase deficiency - they are 10 times less common and do not lead to hypervirilisation of females.
NB: If testicles cannot be palpated in the scrotum or groin, check the child is not a hyper-virilised female
A one-and-a-half-year-old Caucasian child is referred to paediatrics for failure to thrive. On examination he is a clean, well-dressed child who is quite quiet and withdrawn. He is pale and looks thin with wasted buttocks. His examination is otherwise unremarkable. His growth chart shows good growth along the 50th centile until 6 months followed by weight down to the 9th, height down to 25th and head circumference now starting to falter at 1.5 years.
What is the most likely cause of this child’s growth
failure?
A. Coeliac disease B. Neglect C. Constitutional delay D. Normal child E. Beta thalassaemia
A. Coeliac disease
The answer here is coeliac disease (A). The clue to this is that his growth was normal until the age of weaning, 6 months. With the introduction of gluten into the diet his growth began to falter. You also note he is pale, likely anaemic, suggestive of malnutrition. One of the classic signs of coeliac disease is the wasted buttocks. Neglect (B) should always be considered in any case of failure to thrive, especially in a child who seems withdrawn, but it is important to remember that chronic illness may make children listless and withdrawn and it is always important to rule out physical illness. You would need multidisciplinary input prior to making the diagnosis of neglect. Constitutional delay (C) is the isolated finding of delay in skeletal growth, i.e. height, and is typically seen around the time of puberty; as his growth failure started with weight this answer is incorrect.
He is not a normal child (D) as he was born on the 50th centile and his weight is now on the 2nd centile with other parameters following in the traditional pattern of growth failure: weight followed by height, followed by head circumference. Beta thalassaemia (E) is highly unlikely in a Caucasian child. You would expect them to be pale and develop symptoms including growth failure around 6 months of age, but without transfusions he would be unlikely to survive to a year-anda-half old.
This question was reproduced from ‘450 SBAs’
A 16-year-old boy is brought to the GP by his parents. They are concerned he is the shortest boy in his class. He is otherwise well. His height and weight are on the 9th centile. His father plots on the 75th centile and his mother on the 50th centile for adult height. On examination, his testicular volume is 8mL, he has some fine pubic and axillary hair. The rest of the physical examination is normal. On further questioning you elicit from his father that he was a late bloomer and did not reach his full height until he was at university. What is the most likely cause of the boy’s short stature?
A. The 9th centile is a normal height and weight so there is nothing wrong
with him
B. Growth hormone deficiency
C. Constitutional delay of growth and puberty
D. Underlying chronic illness
E. Anorexia
C. Constitutional delay of growth and puberty
This is constitutional delay of growth and puberty (C). It classically runs in families in the male line and presents with delayed puberty and growth spurt. He has started puberty and it seems to be progressing in the normal pattern so he should be reassured that he will get his growth spurt as he finishes puberty. While 9 per cent of the population will have his height and weight (A) and be normal, the mid-parental height suggests he should be taller than he is (the mean parental height plus 7 cm for boys or minus 7 cm for girls predicts the adult height of the child ± two standard deviations). As he has started puberty and is otherwise well this is unlikely to be growth hormone deficiency (B) or underlying chronic illness (D). In anorexia (E) you would expect the weight to be less than the height centile and to be more extremely low.
This question was reproduced from ‘450 SBAs’
A term baby is awaiting his discharge check when you are called to see him at 10 hours of age. His mother reports that he has turned a dusky colour and is not as alert as he has been. On examination he has central cyanosis, pulse 150 bpm regular, and both brachial and femoral pulses are palpable. He has normal heart sounds with no murmur. His oxygen saturations are 65 per cent in air.
What is the most likely underlying diagnosis?
A. Transposition of the great vessels B. Ventricular septal defect (VSD) C. Tetralogy of Fallot D. Aortic stenosis E. Coarctation of the aorta
A. Transposition of the great vessels
This child has a cyanotic defect affecting the oxygenation of the blood. Transposition of the great vessels (whereby the aorta is attached to the right ventricle and the pulmonary artery attached to the left ventricle) (A) and the Tetralogy of Fallot (multiple defects including VSD, right ventricular outflow tract obstruction, right ventricular hypertrophy and overriding aorta) (C) are both cyanotic presentations but the Tetralogy of Fallot more commonly presents at around 6 months of age with cyanotic spells. Transposition of the great vessels is more likely to present at birth and is only compatible with life if there is a mixing defect in addition (VSD, atrial septal defect, persistent ductus arteriosus). In this child the ductus arteriosus helps to shunt blood to the lungs until it starts to close physiologically. He then is at risk of worsening cyanosis. He needs a prostaglandin infusion to keep the duct open and surgical intervention.
The other answer options (B) (VSD is a communication between the left and right ventricles allowing left-to-right shunting), (D) (narrowing of the outflow tract of the left ventricle) and (E) (narrowing of a section of the aorta) are acyanotic and therefore do not account for this presentation.
This question was reproduced from ‘450 SBAs’
A mother brings her 8 month old child in with vomiting. She states her son had been intermittently screaming in pain but is then quiet and more relaxed for periods of time. The child is afebrile and saturating 99% on room air. You examine the child and witness an episode where he screams loudly and draws his legs up towards his abdomen. Palpation reveals a sausage shaped mass in the right iliac abdominal region.
What is the most appropriate next step in this patient’s management?
A. Take blood cultures, serial lactates, and urine output measurements, and give broad spectrum antibiotics and high flow oxygen
B. Take a VBG, give I.V. saline, and send the patient for an urgent abdominal CT scan followed by a laparotomy
C. Make the patient NBM and insert an NG tube, establish I.V. access and give saline, then perform an abdominal USS
D. Prescribe movicol and educate the mother on dietary changes including lots of fibre and water
E. Make the patient NBM and insert an NG tube, establish I.V. access and give saline, then take an AXR and send the child for emergency laparotomy
C. Make the patient NBM and insert an NG tube, establish I.V. access and give saline, then perform an abdominal USS
This is a history of intussusception: invagination of the bowel (essentially telescoping in on itself along its length) leading to an acute abdomen. This child is in the initial stages, but intussusception may progress as blood supply to the affected bowel is impeded, causing bowel necrosis and peritonitis. A classic sign that the bowel is beginning to necrose and slough is ‘redcurrent jelly’ stool.
As this is a presentation of an acute abdomen, the patient should be made NBM and needs an NG tube inserting (remember to manage this patient’s nutrition if they are NBM). They will also need I.V. access establishing and saline giving, after which a USS is the investigation of choice. This will show the ‘doughnut’ or ‘target’ sign, which is the appearance of intussuscepted bowel when viewed along its length.
Intussusception occurs at the ilio-caecal valve in ~90% of cases, which is the cause of the sausage shaped mass in the right iliac abdominal region.
A mother brings her 3 week-old son in to A&E with persistent vomiting. She has been trying to breastfeed him but within a half hour of being fed he develops projectile vomiting, and then cries till he is fed again. This has been steadily worsening over the past fewdays, and he is now not keeping feed down at all. On examination there is reduced skin turgor and a slightly delayed capillary refill, so you establish I.V. access and give a fluid challenge after which he improves. You insert an NG tube, then arrange a test feed during which you inspect and palpate the abdomen. You see a wave move across the abdomen from left to right, and feel an olive-sized mass in the right upper quadrant.
What is the most likely diagnosis, and what findings would you expect to be associated with it?
A. Pyloric stenosis: dilated loops of bowel seen on AXR, metabolic acidosis, thrombocytopenia
B. Intussusception: a crescent-shaped mass within the colon located near the hepatic flexure on AXR
C. Pyloric stenosis: hypochloraemic metabolic alkalosis, hyponatraemia, hypokalaemia
D. Intussusception: the doughnut sign on USS
E. Pyloric stenosis: metabolic acidosis, hypocalcaemia
C. Pyloric stenosis, hypochloraemic metabolic alkalosis, hyponatraemia, hypokalaemia
Pyloric stenosis is caused by hypertrophy of the pyloric muscle causing outflow obstruction of the stomach. It usually presents between 2-8 weeks of age with vomiting soon after feeds which becomes more forceful in nature with time, and eventually classically projectile. The baby will usually still be hungry after vomiting, though as they become dehydrated and there is electrolyte derangement, they will lose interest in feeds. Loss of stomach contents results in a hypochloraemic alkalosis with hyponatraemia and hypokalaemia. A child may present with failure to thrive if the presentation is delayed.
Once any immediate dehydration and electrolyte abnormalities have been corrected, you can organise diagnostic tests. A test feed can be used to detect pyloric stenosis: the classic sign is an olive olive-sized mass in the right upper quadrant, with a peristaltic wave moving across the abdomen from left to right. A nasogastric tube is used to empty the stomach of air to allow palpation of the pyloric muscle.
NB: the classic test is a test feed, but this is being superseded by the faster and very accurate USS to determine pyloric muscle thickness and pyloric canal length, which is a particularly favoured option amongst surgeons.
Management is with a pyloromyotomy: division of the pyloric muscle down to the level of (but sparing) the mucosa. The post-operative prognosis is excellent, and the patient can usually be discharged after 2 days with a low risk of operative morbidity or recurrence of the issue.
A 5 year-old boy is brought to A&E by his mother as he has been feverish for the past couple of days, and has now begun making strange high pitched sounds when he breathes. The FY2 examines him, and hears him make a barking cough sound; the child is later diagnosed with croup. When checking up on him later, the registrar notices a heart murmur: it is a soft blowing ejection systolic murmur heard best at the left sternal edge. The murmur is enhanced when the registrar asks the child to push his tummy out against his hand. The child’s past medical history is unremarkable.
What is the most likely cause of this murmur?
A. Innocent murmur B. Subacute endocarditis C. Disseminated viral infection D. Aortic stenosis E. Atrial septal defect
A. Innocent murmur
Innocent murmurs are detected at some stage in ~30% of children, and have no pathological basis. This history is suggestive of an innocent murmur because it has been detected for the first time during a febrile illness (which can exacerbate an innocent murmur, causing it to be heard). Furthermore, the child is not exhibiting any cardiac symptoms. The presence of the four S’s of an innocent murmur is also reassuring:
Soft blowing murmur
Systolic only
Sternal edge (left)
aSymptomatic
Further reassuring features are:
Normal heart sounds with no added sounds
No parasternal thrill
No radiation
A 7 week-old baby is brought to the GP for the routine 6-8 week check. The baby’s height and weight are following the same centile consistently, though her records show her birth weight was 1350g. A full examination is mostly unremarkable, but on auscultation of the heart the GP hears a loud murmur just below the left clavicle, accompanied by a thrill in the same location. The murmur does not change when the baby’s position is altered. The GP also notes that S2 is loud. The baby’s heart rate, blood pressure, and oxygen saturations are all normal.
What is the most likely cause of the murmur?
A. Congestive cardiac failure secondary to respiratory distress syndrome B. Patent ductus arteriosus C. Patent foramen ovale D. Innocent murmur E. Ventricular septal defect
B. Patent ductus arteriosus
The ductus arteriosus joins the aorta and the pulmonary vein, thereby circumnavigating the pulmonary circulation. This is an important part of the fetal circulation (along with the foramen ovale and the ductus venosum) but closes shortly after birth. In some children it does not close, and the risk of this is around 1 in 2000. However the risk increases to ~40% in children with birthweights under 1500g (classified very low birthweight). A patent ductus arteriosus (PDA) causes left-right shunting which may be asymptomatic if the defect is small. However if the defect is large, the shunting can cause increased oxygen requirements, atelectasis, recurrent LRTIs, and congestive cardiac failure. If the defect remains open, patients are more vulnerable to bacterial endocarditis, pulmonary hypertension, and aortic rupture. There is significantly increased mortality with untreated PDA: ~20% at 20 years, ~40% at 40 years, ~60% at 60 years. Treatment is with a prostaglandin inhibitor or surgical ligation in infants, or with a cardiac catheter procedure if the PDA is picked up later.
NB: mention of a ‘machinery-like murmur’ in an SBA is a very strong hint towards a PDA
A 10 month old girl is brought to A&E after a generalised seizure of ~20 minutes duration witnessed by her father. She is now awake and alert, though is pyrexial with a temperature of 37.9 degrees. A quick history and exam reveals features of an URTI and, after an LP and blood cultures to rule out meningitis, the episode is put down as a febrile seizure. The father states that whilst this has not happened before, he did witness his daughter’s left leg shaking and jerking in isolation for about twenty seconds two days ago.
Which of the features of this history does not increase the likelihood of the child having further febrile seizures?
A. The child’s age
B. The episode of isolated leg jerking two days ago
C. The fever of 37.9
D. A prolonged period of illness before the febrile seizure
E. The duration of the seizure
D. A prolonged period of illness before the febrile seizure
Febrile seizures are relatively common, occurring in 3% of children between the ages of 6 months and 6 years old, and are defined as seizures occurring during a febrile illness in the absence of intracranial infection. Family history is significant, with a 10% risk in those with first degree relatives who have experienced febrile seizures. Febrile seizures are not strongly associated with true epilepsy: 1-2% of children with febrile seizures go on to develop epilepsy, which is only slightly higher than the incidence in children without febrile seizures. However multiple seizures within the same illness, or prolonged or focal seizures do increase the risk of epilepsy to 4-12%.
Among children who have one febrile seizure, 30-40% will go on to have more. Risk factors for further seizures include: a family history of febrile seizures, age under 18 months, relatively low precipitating fever, short duration between onset of illness and seizure, and a complex seizure (>15 minutes duration, repeated within same illness, focal symptoms, incomplete recovery in less than an hour)
NB: Always consider meningitis before declaring a febrile seizure
Which of the following is true of the MMR vaccination?
A. It would not generate immunity if given under 6 months
B. It is an inactivated type vaccine
C. It provides cross-immunity against chickenpox
D. Three doses are given: ideally at 12 months, 15 months, and 3 years old
E. It provides better protection against mumps than against measles or rubella
A. It would not generate immunity if given under 6 months
The MMR vaccine would not be effective if given to a baby under 6 months old because maternal antibodies transferred to the baby are still present and will neutralise the attenuated virus without the baby’s immune system developing a response.
The MMR vaccine is a live attenuated vaccine given in two doses by intramuscular injection into the upper arm or thigh. The first dose is ideally given within a month of the child’s first birthday, and the second when they turn 3 years and 4 months old (or soon after). MMR provides excellent immunity to all three diseases, with ~97% of recipients becoming immune to rubella and measles, but only 88% gaining immunity to mumps.
Up to date UK vaccination schedule:
https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/849184/PHE_complete_immunisation_schedule_Jan2020.pdf
A 28 week pregnant (by LMP) woman presents to A&E with continuous pain and per vaginal bleeding. Her pregnancy has so far been complicated by pre-eclampsia, and the obstetrician is concerned about a possible placental abruption. Abdominal palpation reveals a tense abdomen, and a CTG trace is pathological; FBC, coagulation screen, and X-match bloods are taken and the woman is rushed to theatre. The baby is delivered by caesarean section.
Which of the following complications is most likely to require intervention from the medical team first?
A. Necrotising enterocolitis B. Respiratory distress syndrome C. Hypoxic-ischaemic encephalopathy D. Intraventricular haemorrhage E. Retinopathy of prematurity
B. Respiratory distress syndrome
Premature birth raises a huge number of problems; it is important to carefully control the environment of a pre-term baby, e.g. the temperature, nutrition, fluid balance, infection risks, oxygen supply, and cardiovascular support. A number of conditions are associated with pre-term birth, and the first to present of those listed will be respiratory distress syndrome (RDS), which presents within 4 hours of birth. RDS is pulmonary dysfunction due to surfactant deficiency, causing lung atelectasis and respiratory distress. Antenatal glucocorticoids have been proven to have a significant benefit in RDS, and indeed in many conditions associated with prematurity, as they replace the maturing effects of endogenous steroid release which usually takes place late in pregnancy.
All of the following are also often associated with pre-term birth:
Intraventricular haemorrhage (IVH): This usually occurs in the germinal matrix - a network of fragile blood vessels above the caudate nucleus, adjacent to the ventricles. If these vessels haemorrhage significantly, they bleed into the ventricles, which can destroy nearby migrating neuroblasts, causing neurological damage. 85% of IVH occurs within 72 hours of life, with 60% occurring within 24 hours.
Necrotising Enterocolitis (NEC): A disease of uncertain aetiology, but is thought to be caused by bacterial invasion of the immature bowel wall, causing an inflammatory reaction which makes the bowel wall more permeable and exacerbates the invasion. Bowel ischaemia and bacterial invasion are both important risk factors, and preterm babies are more vulnerable to both. Patients with NEC rapidly become shocked as the bowel dies, with an acute abdomen picture and a metabolic acidosis. The mortality is between 20-50% and there is significant morbidity and sequelae associated. NEC usually affects preterm children, and presents within the first 4 weeks of life.
Hypoxic-Ischaemic Encephalopathy (HIE): HIE is defined as the clinical manifestation of a hypoxic event within 48 hours of the event occurring. Management involves resolving the underlying cause asap, after which any disability must be assessed. Therapeutic cooling can reduce morbidity and mortality in moderate-severe cases under 18 months, but the main focus is to prevent HIE in the first place.
Retinopathy of Prematurity (RoP): RoP is theorised to be a neovascular response to exposure to hyperoxic conditions. Normal retinal vessel development is impaired in preterm babies; the abnormal vessels which subsequently form are structurally unsound leading to haemorrhage, fibrosis, and retinal detachment. RoP is screened for in vulnerable children starting at 4 weeks and continuing till the retina is fully vascularised
BpD - defined by oxygen requirement at 36 weeks LMP age
PDA also common
Why are preterm infants at increased risk to infection shortly after birth than term infants?
Because maternal IgG, which usually protects infants from infection, is transmitted across the placenta mostly in the third trimester. Accordingly, if the baby is born preterm they will have less IgG from the mother and will be at risk of infection.
A 3-year-old boy, is brought to his general practitioner by his mother because she has noticed him limping recently. He has not been eating as well as usual and has a distended abdomen, and his grandmother has mentioned she thinks he has lost weight. On examination, the general practitioner confirms that the child seems generally miserable and pale. He notes a large abdominal mass on palpation, and the boy’s blood pressure is elevated.
What is the most likely diagnosis?
A. Beta thalassaemia B. Neuroblastoma C. Phaeochromocytoma D. AML E. Hodgkin's lymphoma
B. Neuroblastoma
Neuroblastoma is a childhood malignancy arising from neural crest tissue in the adrenals and sympathetic nervous system. Abdominal mass is a common presentation, and metastatic disease can move to bone and present as a limp. Over the age of 2 years, most clinical symptoms are the result of metastatic disease.
ALL would be a good differential for this presentation, but AML is less likely in a child this age.
The hypertension is a result of catecholamines released by the tumour.
This is reproduced from a Lissauer’s case study (10th edition, p395)
In which two of the following examples would it be most appropriate to breach confidentiality?
A. A sexually active 14 year old not using condoms with her 16 year old boyfriend
B. A 19 year old girl having sex with a 15 year old boy
C. A 13 year old who is sexually active with another 13 year old
D. A 15 year old boy in a sexual relationship with his secondary school teacher
E. A 14 year old girl asking for the contraceptive pill but who refuses to involve her parents
D. A 15 year old boy in a sexual relationship with his secondary school teacher
There is no legal obligation to automatically report underage sexual activity unless there is a suspicion of exploitation/ abuse. GMC guidance suggests the following as indicators that the doctor should generally break confidence:
Under age 13
A young person who is too immature to understand or consent
A big differences in age, maturity or power between sexual partners
A young person’s sexual partner having a position of trust
Force or the threat of force, emotional or psychological pressure, bribery or payment, either to engage in sexual activity or to keep it secret
Drugs or alcohol used to influence a young person to engage in sexual activity when they otherwise would not
A person known to the police or child protection agencies as having had abusive relationships with children or young people
Which of the following is most suggestive of a non-accidental injury?
A. A 2 year old with infected abrasions of the elbows and knees that have not been cleaned
B. A 15 month old with burns from boiling water to the face, arms, and upper chest
C. A 1 year old with a spiral fracture of the humerus apparently sustained from falling onto an outstretched arm
D. A 9 month old with bruises on the side of the head and shoulder
E. A 15 month old with extensive bruising and 2 anterior rib fractures ostensibly sustained falling down the stairs
C. A 1 year old with a spiral fracture of the humerus apparently sustained from falling onto an outstretched arm
This case is suspicious in part because of the fracture pattern - spiral fractures are associated with NAI, as are humeral fractures in children under 18 months.
The location of an injury is important in determining whether it is accidental; injuries to the extensor surfaces that fit with an explanation may be innocent, but injuries to flexor surfaces are more suspicious.
The age is also important to factor in: e.g. it is plausible that the 9 month old was crawling around and fell and bruised their head and shoulder, but this would be less believable of a 3 month old who will not yet be crawling.
This is a good resource for NAI fracture information:
https://www.rcpch.ac.uk/sites/default/files/2019-02/child_protection_evidence_-_fractures.pdf
Which of the following genetic haemoglobin abnormalities would be most likely to cause hydrops fetalis?
A. 4 point mutations of genes on each chromosome 16
B. 4 deletions of genes on each chromosome 16
C. An E6V substitution within the beta globin gene
D. 4 deletions of genes on each chromosome 11
E. 2 point mutations within genes on each chromosome 11
B. 4 deletions of genes on each chromosome 16
The most severe form of alpha thalassaemia is caused by deletions in all four alpha haemoglobin genes. This haemoglobin is known as Haemoglobin Barts and leads to hydrops fetalis (fetal oedema) and death in utero.
Alpha thalassaemia = deletions in any of 4 genes on chromosome 16 leading to problems beginning in utero
Beta thalassaemia = point mutations in any of 2 genes on chromosome 11 leading to problems beginning around 3-6 months old as fetal haemoglobin is replaced by adult
What must you always exclude in a child presenting with a suspected febrile seizure?
Meningitis/ encephalitis
Which of the following is LEAST suspicious for non-accidental injury?
A. A 6 month old with a transverse metaphyseal femoral fracture
B. An 18 month old with a parietal linear skull fracture
C. A 4 month old with 3 old posterior rib fractures
D. A 3 year old with a sternal fracture
E. A 15 month old with a spiral humerus fracture
B. An 18 month old with a linear skull fracture
Certain fracture patterns and fractures in particular bones or bone locations are indicative of NAI. Fracture in a young child, spiral fractures, transverse fractures, metaphyseal femoral fractures, and transverse fractures are all associated with NAI. Rib fractures in the absence of trauma or underlying disease is highly suggestive of NAI, and though it is technically possible that the injuries described in ‘C’ could be sustained during birth, it is actually quite uncommon and NAI is more likely.
Younger children presenting with fractures are more likely to have an NAI, as they are less mobile and it is less likely they would be able to fracture a bone on their own. It is important to know the gross motor capabilities of a child at different ages in order to analyse whether a parent’s explanation makes sense (e.g. how could a 6 month old who can’t walk have sustained a femoral fracture?).
This is a good resource for NAI fracture information:
https: //www.rcpch.ac.uk/sites/default/files/2019-02/child_protection_evidence_-_fractures.pdf
https: //radiopaedia.org/articles/non-accidental-injury-1?lang=gb
Which of the following statements regarding a limping child is incorrect?
A. Limp is a relatively common symptom of a primary neuroblastoma
B. There is an association between SCFE and endocrine abnormalities
C. Perthes disease usually presents younger than Osgood-Schlatter and SCFE
D. Reactive arthritis is the most common childhood arthritis
E. The most likely cause of hip pain in a child is transient synovitis
A. Limp is a relatively common symptom of a primary neuroblastoma
Neuroblastomas make up ~7% of childhood cancers, and arise from neural crest tissues e.g. in the adrenals or sympathetic nervous system. They often present with an abdominal mass and generic systemic signs. Whilst they also commonly present with a limp, this is due to metastatic disease affecting the bone, rather than the primary tumour.
Rank the following congenital infections from most to least likely to adversely affect the fetus if contracted by a pregnant mother in the first trimester.
A. HSV B. CMV C. Parvovirus B19 D. VZV E. Rubella
E. Rubella: 90% incidence of congenital Rubella syndrome
B. CMV: 30-40% placental transmission rate, 10% of infected babies have congenital abnormalities
A. Parvovirus B19: 33% placental transmission, 9% infected
C/D. HSV: Very low chance of infecting the baby if contracted in first trimester, only 5% of hsv infections are transmitted through the placenta
C/D. VZV: 0.5% risk of congenital syndrome
Options C and D are essentially interchangeable because both carry very low risk
NB: HSV and VZV both have highest transmission rates if infected close to birth, as they are mostly transmitted peri-partum and the mother does not have time to transmit antibodies to the fetus against the virus. They are not often transmitted via the placenta
NB: the above percentages are for maternal infection in the first trimester
A one hour-old neonate is noted to have a purpuric rash whilst being checked over by the midwife. She measures his head and finds it is smaller than expected. The baby is reviewed by a neonatologist who notes that the baby was also IUGR - they suspect congenital infection
Which of the following would most specifically indicate a particular infective pathogen?
A. Microcephaly B. A 'blueberry muffin' appearance C. Chorioretinitis D. Heart defects E. Deafness
D. Heart defects
Heart defects are one of the classic triad of congenital Rubella syndrome. They are not particularly associated with other congeital infections, whereas microcephaly, chorioretinitis, deafness, and a purpuric rash causing the ‘blueberry muffin’ appearance can all be caused by both CMV and Rubella.
The most important organisms in congenital infection are the ‘ToRCH’ organisms: Toxoplasmosis, Rubella, Cytomegalovirus, and Herpes Simplex. Syphilis and Zika virus may also cause congenital infection. These pathogens infect the mother, then cross the placenta and infect the baby, causing various birth defects. The most common pathogen is CMV.
The severity of disease in neonates depends on the pathogen and the gestational age of infection: some pathogens carry worse outcomes in early infection (Rubella, CMV), some are more dangerous if the mother is infected close to birth (VZV, HSV).
The most severe cases cause miscarriage or stillbirth. If the baby survives a wide range of abnormalities may be seen including: hepatosplenomegaly, haematological disorders especially thrombocytopenia, a purpuric rash (causing the ‘blueberry muffin baby’ appearance), and CNS disease (microcephaly, chorioretinitis). These features are fairly general but vary in prevalence by pathogen, and each infectious agent causes its own more specific issues (e.g. the triad of Rubella: sensorineural hearing loss, ocular abnormalities, and congenital heart malformation).
Which of the following options describes gastroschisis?
A. A loop of bowel protruding through the umbilical ring due to a defect in abdominal wall folding during development
B. A malrotated loop of bowel within the abdomen that is susceptible to developing a volvulus
C. A congenital inguinal hernia at high risk of strangulation
D. A protruding loop of bowel contained in a sac of amniotic membrane and peritoneum
E. A loop of bowel protruding through the abdominal wall, usually to the right of the umbilicus
E. A loop of bowel protruding through the abdominal wall, usually to the right of the umbilicus
Gastroschisis and exomphalos are two similar disorders in which a baby is born with bowel protruding from their abdomen. In exomphalos the bowel protrudes through the abdominal ring and is covered by a transparent sac made of amniotic membranes (from the umbilical cord) and peritoneum. In gastroschisis the bowel protrudes through the anterior abdominal wall (usually in the right paraumbilical area) and is not covered by a sac.
Gastroschisis is more concerning as the bowel is exposed and the baby is at risk of losing heat and fluid through it, hence the exposed bowel should be covered in a wrap. These defects are usually picked up on the 20 week abnormality USS. Exomphalos is associated with a range of chromosomal and congenital abnormalities (Pentalogy of Cantrell, trisomy 13 and 18), whereas gastroschisis is not. The management of both is surgery to return the bowel to the abdomen.
What are the limit ages for the following vision and fine motor skills?
Fixes on objects and follows them visually
Reaches for objects
Transfers objects between hands
Has developed a pincer grip
Vision and Fine Motor:
3 months - fixes on objects and follows them visually
6 months - reaches for objects
9 months - transfers objects between hands
12 months - has developed a pincer grip
What are the limit ages for the following gross motor skills?
Head control
Sits unsupported
Stands with support
Walks independently
Gross Motor: 4 months - head control 9 months - sits unsupported 12 months - stands with support 18 months - walks independently
What are the limit ages for the following hearing, speech, and language skills?
Polysyllabic babble Consonant babble Can say 6 words with meaning Joins words together 3-word sentences
Hearing, Speech, and Language: 7 months - polysyllabic babble 10 months - consonant babble 18 months - can say 6 words with meaning 2 years - joins words together 2.5 years - 3-word sentences
What are the limit ages for the following social behaviour skills?
Smiles Fears strangers/ stranger anxiety Can feed self with a spoon Symbolic play (e.g. pretending a wooden block is a car/ phone) Interactive play
Social Behaviour: 8 weeks - smiles 10 months - fears strangers 18 months - can feed self with a spoon 2-2.5 years - symbolic play (e.g. pretending a wooden block is a car/ phone) 3-3.5 years - Interactive play
A two year old is brought in via ambulance because the parent noticed breathing difficulties. The parents say the child has had a runny nose for a couple of days but has otherwise been previously well. You observe the baby and notice marked stridor accompanied by a barking cough, and sub-costal recessions. You also notice the baby seems fatigued and lethargic despite the high flow oxygen that the paramedics have been giving them.
What is the most appropriate next step?
A. Admit the child and advise the parents that you will give steroids if the breathing does not improve
B. Give an I.V. fluid challenge, and bleep the ENT registrar to perform a tracheostomy if needed
C. Give nebulised budesonide, consider adrenaline, and bleep the anaesthetist
D. Give oral dexamethasone and nebulised salbutamol, and reassess in 30 minutes
E. Take a full history from the parents, then examine the throat and chest of the child
C. Give nebulised budesonide, consider adrenaline, and bleep the anaesthetist
This is a fairly clear case history of croup, and there are signs that suggest it is severe. Of most importance is the lethargy that the child is showing, indicating they are becoming fatigued and desaturating. Low oxygen saturations or a very high respiratory rate would also suggest severe croup.
Steroids will help to reduce the upper airway inflammation, but it may be difficult to get the child to swallow a pill in this state. Furthermore, nebulised budesonide will act faster, and this is an emergency situation. Nebulised adrenaline can be given to quickly open the upper airway, but is a temporary measure, and carries a risk of rebound obstruction.
The anaesthetist should be bleeped because if the medical measures to restore the upper airway don’t work, the child will have to be intubated.
A 17 year old boy is brought to A&E with severe abdominal pain which came on rapidly and has steadily worsened. Abdominal examination is unremarkable, but when the genitalia are examined the scrotum is found to be swollen, red, and also very painful.
What is the best next step in the management of this patient?
A. Send them to theatre asap for bilateral orchidopexy
B. Give prn analgesia, I.V. Hartmann’s
C. Arrange an urgent doppler USS and proceed depending on the findings
D. Arrange for an urgent theatre booking to perform
investigative surgery +/- unilateral orchidopexy
E. Perform a urine dipstick, and take bloods including FBC, CRP, and CK before deciding how to precede
A. Send them to theatre asap for bilateral orchidopexy
This is a clear history of testicular torsion, where a testis twists around its axis, occluding its own blood supply. This is an emergency and must be treated within a few hours of onset if the testis is to remain viable. The surgery used to rectify torsion is generally referred to as an orchidopexy, and involves un-rotating the testis and fixing it to the scrotum to prevent recurrence. The other testis is also fixed, as it is also at risk of torsion.
Torsion is most common in post-pubertal boys but may present earlier. It may present as testicular pain, but can also be referred to the groin or lower abdomen. USS may be useful in diagnosing torsion, but it is essentially a clinical diagnosis, and the most important priority is to send the patient to theatre asap.
Which of the following correctly describes Hirschprung’s disease?
A. Ganglion cells from the neural crest fail to migrate resulting in a lack of sympathetic colon innervation
B. It is a highly significant, but rare, cause of disease
C. The affected bowel is hypertonic and does not relax in response to proximal distension
D. The bowel is unable to constrict leading to delayed or absent meconium passage and chronic constipation
E. Impairment of mucosal function leads to dry and hardened stool which cannot be easily passed
C. The affected bowel is hypertonic and does not relax in response to proximal distension
‘A’ is very nearly right, but it is a lack of parasympathetic colon innervation that occurs in Hirschprung’s disease. ‘B’ is incorrect because the incidence of Hirschprung’s is ~1 in 5000 which is not overly rare, and it accounts for 20% of all neonatal bowel obstruction.
‘D’ is incorrect because the bowel is hypertonic not hypotonic: it fails to relax in response to proximal distention and so cannot allow stool to pass through. ‘E’ is incorrect because the issue in Hirschprung’s is not with mucosal function.
A 7 year old girl is brought to A&E by her father with a widespread, rough, blanching maculopapular rash on her torso and limbs. She has been generally unwell for 3 days with a high fever (measured at 39 with a tympanic thermometer by dad) and sore throat, and on examination has swollen tonsils and a bright red tongue.
Which of the following investigations would be most useful in this case?
A. Blood cultures B. Throat swab C. Echocardiogram D. Bloods (FBC, CRP) E. Coronary angiogram
B. Throat swab
This is a history of scarlet fever, an infectious disease caused by Group A Streptococcus (S. pyogenes). It presents similarly to Kawasaki disease: a high fever for several days then a rash. However the rough quality of the rash and the inflamed tonsils are clues which point to scarlet fever. Additionally, the rash does not involve the palms and soles, there is no conjunctivitis, and there is no oedema of the hands or feet, meaning this would not fulfill the diagnostic criteria for Kawasaki disease.
Which of the following would correctly describe Tetralogy of Fallot?
A. ASD, aortic stenosis, infundibular stenosis, right ventricular hypertrophy
B. VSD, overriding aorta, pulmonary atresia, right ventricular hypertrophy
C. ASD, overriding aorta, pulmonary stenosis, left ventricular hypertrophy
D. VSD, aortic stenosis, infundibular atresia, left ventricular hypertrophy
E. VSD, tricuspid stenosis, infundibular stenosis, right ventricular hypertrophy
B. VSD, overriding aorta, pulmonary atresia, right ventricular hypertrophy
‘B’ describes Tetralogy of Fallot correctly, albeit the more severe form where there is pulmonary atresia instead of infundibular stenosis. It is one of two causes of congenital cyanotic heart disease and is probably slightly more common than the other - transposition of the great arteries.
Tetralogy of Fallot was classically associated with severe mortality and morbidity in early childhood, but with modern surgery 90% survive to adulthood and 90% of them live a normal lifestyle.
What is the most important step in the initial management of a neonate with a cyanotic heart defect aside from the standard maintenance of ABC?
A. Give a prostaglandin infusion
B. Give colloid rather than crystalloid I.V. fluids
C. Give prophylactic I.V. Abx and calcium gluconate/ chloride
D. Obtain a trans-oesophageal echocardiogram
E. Maintain constant ECG monitoring
A. Give a prostaglandin infusion
Cyanotic heart defects are somewhat alleviated by a patent ductus arteriosus, so the most important principle in managing these patients is to keep that duct open. This is done by giving a prostaglandin infusion. These types of circulation are referred to as ‘duct-dependent’.
A 20 hour-old neonate is noted to have an increased respiratory rate on routine obs. The doctor attends to examine the baby and finds his RR is increased but he is not cyanotic, and he is well perfused and saturated. He auscultates the baby’s heart.
Which of the following murmurs is the doctor most likely to hear?
A. A holosystolic murmur at the lower left sternal edge
B. A continuous machinery-like murmur just below the left clavicle
C. An ejection systolic murmur heard best in the 2nd left ICS, that radiates to the carotids
D. An ejection systolic murmur heard best at the upper left sternal edge, with a fixed and widely split S2
E. A soft blowing systolic murmur at the left sternal edge that does not radiate
A. A holosystolic murmur at the lower left sternal edge
This is typical of a ventriculo-septal defect, the most common congenital cardiac malformation which accounts for 30% of heart deformities. This question essentially asks which is the most common malformation that would present as breathlessness but not cyanosis (remember cyanosis is caused by right-left shunts or a complete AVSD).
A holosystolic murmur is very similar to a pan-systolic murmur, and the difference is mostly academic: a pansystolic murmur lasts throughout systole and obscures S1 and S2, whereas a holosystolic murmur does not obscure S1 and S2. In reality the two are rarely distinguished.
‘B’ describes a PDA murmur
‘C’ is aortic stenosis
‘D’ is an ASD
‘E’ is an innocent murmur
The neonatal registrar is urgently called to see an acutely sick baby boy. The child is 2 days old and was well at birth with no complications in either labour or pregnancy. However the baby is now floppy, unconscious, and grey, and has been coughing up pink frothy sputum. His sats have dropped to 85% so he is given 15L oxygen, and his BP is 40/20 so a cannula is rapidly inserted and fluids are started. A CBG shows severe metabolic acidosis.
What has most likely precipitated this deterioration?
A. Deficiency of surfactant, causing end-tidal atelectasis
B. Switching of the pulmonary artery and aorta, essentially creating two separate circulations
C. Group B streptococcal pneumonia, causing rapid septic shock
D. Constriction of DA tissue, thereby both causing and decompensating a left outflow tract obstruction
E. E. coli meningitis that has now progressed to sepsis
D. Constriction of DA tissue, thereby both causing and decompensating a left outflow tract obstruction
The above describes the generally accepted theory behind coarctation of the Aorta: the ductus arteriosus tissue closes part of the aortic arch when it contracts and closes. This usually happens within 48 hours (though it may take longer, especially in girls) and the closure of the duct removes a potential bypass of the coarctation. In this way, the constriction of the DA tissue both causes the coarctation, and removes the compensatory mechanism.
This does not always occur: there are other mechanisms of coarctation and the degree of aortic narrowing varies. The presentation here is of the most severe variety as this neonate is presenting with shock.
Whilst sepsis and meningitis are important differentials, the lack of any complications at birth and the fact the baby was previously completely well make them less likely.
A mother brings her 9 month old to see the GP regarding episodes of regurgitation during feeding. These have been ongoing for a few months and happen with most feedings, and the mum says he brings up significant amounts but without much force. He has not yet been weaned as his mother doesn’t want to lose the bonding experience of breast feeding. The boy is otherwise well, and has been following his centiles for both height and weight
How should the doctor proceed?
A. Reassure her that this is known as ‘GORD’ and is common in young children, but will resolve without significant sequelae
B. Reassure her that these losses are normal and known as ‘posseting’ and that there is nothing to do
C. Refer the boy for investigation by oesophageal pH monitoring +/- OGD if indicated
D. Refer the boy to SALT to assess whether there is any danger of aspiration and educate the mother on the signs of chest infection
E. Reassure her this is very normal, and that changing feeding position and introducing solid foods or thicker fluids will help
E. Reassure her this is very normal, and that changing feeding position and introducing solid foods or thicker fluids will help
This is a history of gastro-oesophageal reflux - a very common finding in children in the first year of life that almost always resolves by the age of 1. Though irritating and worrying for parents, reflux is nothing to worry about unless certain features develop necessitating treatment, at which case the diagnosis become gastro-oesophageal reflux disease.
Features implying GORD are: Faltering growth Signs of oesophagitis (pain or discomfort, haematemesis, iron deficient anaemia) Aspiration leading to pneumonia Any serious events as a result of reflux
Accordingly, this child does not have GORD as they show no signs of actual disease. A more upright feeding posture and introducing thicker fluids and solids into the diet will help the reflux, especially as the baby is now 9 months old and so should be starting solids.
A 6 year old girl is brought to A&E by her father, she has been suffering from d&v for 3 days and has been looking increasingly unwell. On inspection she seems drowsy and dehydrated, with prolonged capillary refill, reduced skin turgor, and dry mucous membranes. She vomits during the inspection and is clearly still unwell. She saw the GP for an unrelated mild cough 3 months ago, when her weight was measured as 20kg (normal) but it is now 18kg.
Which of the following would be the best management?
A. Establish I.V. access, give a 250mL saline bolus then re-evaluate her using an A-E approach
B. Give oral metronidazole and an oral dioralyte preparation, then repeat the assessment of her hydration status in an hour
C. Establish I.V. access, give a 250mL saline bolus, then give 2000mL of saline steadily over the next 24 hours to replace fluid losses
D. Perform a full examination, then take bloods including: a VBG, U&Es, FBC, and a CRP
E. Establish I.V. access, give an initial bolus of 400mL Hartmann’s, and set up a Hartmann’s drip at a rate of 96mL/h
E. Establish I.V. access, give an initial bolus of 400mL Hartmann’s, and set up a Hartmann’s drip at a rate of 96mL/h
20mL/kg of I.V. crystalloid without glucose given in under 10 minutes is the standard paediatric fluid resuscitation bolus
Fluid to give = (deficit - initial bolus) + maintenance
Deficit = 2kg = 2000mL
2000mL - 400mL = 1600mL
The deficit is replaces over 48 hours (NOT 24) so 1600/48 = 33.3mL/h
Maintenance (use non-dehydrated weight) Uses the Holliday-Segar formula: 100ml/kg for the first 10kg 50ml/kg for the next 10kg 20ml/kg for each subsequent kg 100x10 + 50x10 = 1500mL Maintenance is calculated for 24 hours so 1500/24 = 62.5mL/h
62.5+33.3 = 95.8mL/kg (give for 48 hours)
Do oral fluids count?
A 4 year old boy is brought to see the GP by his mother regarding episodes of dyspnoea and wheezing. These episodes occur in ~4 days out of the week, and have woken him in the night on a few occasions. They sometime occur spontaneously, but are more often triggered by exercise or arise in the evening just before he goes to bed. This has been ongoing for 1 month and there is nothing in the history to suggest recent viral illness. None of the episodes have required hospitalisation, though they have been distressing for both the boy and his parents.
How should this child be managed?
A. Prescribe a PRN salbutamol inhaler with a spacer for an 8 week trial, then stop it and reassess the symptoms
B. Prescribe a course of low dose oral steroids for a trial period of 4 weeks, then wean from them and reassess symptoms
C. Reassure the mother that these symptoms almost always resolve in children of this age and ask her to return if they do not by the time the boy is 5
D. Discuss possible triggers with the mother, and construct a plan for allergen avoidance to be trialled for 4 weeks to see if this reduces symptoms
E. Prescribe a paediatric moderate dose ICS and PRN salbutamol for an 8 week trial, then withdraw the ICS and reassess symptoms
E. Prescribe a paediatric moderate dose ICS and PRN salbutamol for an 8 week trial, then withdraw the ICS and reassess symptoms
It is a common medical student misconception that asthma cannot be treated in a child under 5. Whilst it is true that many children under 5 will experience reactive airway disease that will resolve spontaneously, the disease will impact some children sufficiently to warrant treatment. In this case asthma is having an obvious impact on the child - he is being woken at night and experiencing SOB 4 times per week.
A child under 5 with a clear clinical picture is said to have suspected asthma, and is treated as such until age 5 when objective testing can be carried out. This delay is largely because of the compliance needed for objective testing, which is absent in most under 5s.
NICE guidelines on asthma management for under 5s is as follows:
Consider an 8‑week trial of a paediatric moderate dose of an ICS in children under 5 with:
- Symptoms at presentation that clearly indicate the need for maintenance therapy (for example, asthma-related symptoms 3 times a week or more, or causing waking at night) or
- Suspected asthma that is uncontrolled with a SABA alone
After 8 weeks, stop ICS treatment and continue to monitor the child’s symptoms:
- If symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely
- If symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy
- If symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS
If suspected asthma is uncontrolled in children under 5 on a paediatric low dose of ICS as maintenance therapy, consider an LTRA in addition to the ICS.
Why are children more susceptible to fluid loss and dehydration than adults?
Because they have a higher surface area:volume ratio and a higher basal metabolic rate
A 10 month old boy is brought to A&E by his mother after she noticed a swelling in his scrotum. On examination the swelling is left-sided, soft, slightly erythematous, and the child does not appear to be in pain when it is palpated. The doctor cannot get above the lump, it does not change between standing and lying down, and it trans-illuminates. The child appears generally well with normal obs, and has been opening his bowels.
What is the most likely cause of the lump?
A. A hydrocele B. An indirect inguinal hernia C. A varicocele D. Epididymal cyst E. A direct inguinal hernia
B. An indirect inguinal hernia
The most significant clue is that the doctor is unable to get above the swelling - this indicates a hernia rather than a hydrocele or testicular mass. You can usually get above a hydrocele, and at least above the main bulk of the mass, though you will not be able to separate it from the testis. Trans-illumination is a red herring here: although it is commonly associated with hydroceles, children have thin bowel walls that will trans-illuminate. The lack of pain in this case is reassuring, as it implies the bowel is not incarcerated or strangulated.
Inguinal hernias are defined as abdominal contents entering the inguinal canal. This may occur either through a weakpoint in the abdominal fascia (direct) or through the deep inguinal ring into the inguinal canal (indirect). Indirect hernias make up 80% of inguinal hernias, and are particularly common in children (5% incidence). They essentially always result from a patent processus vaginalis - an outpouching of peritoneum (distal to the inguinal canal) into the scrotum. This usually obliterates but if it remains open, it provides a space for bowel to move into via the inguinal canal.
Direct hernias are associated with elderly people with weaknesses in their abdominal muscle.
A 5 year old girl is brought to A&E by her father who is concerned by the swelling in her face. The swelling described by the father is not present when the doctor examines the girl, but he states the area around her eyes is swollen each morning. She also has pitting oedema in her ankles up to the knee. Basic observations, FBC, CRP, and U&Es are normal, but a urine dipstick and urinanalysis shows +++ protein, and LFTs reveal low albumin.
What is the most appropriate management of this patient?
A. Admit the child, begin an I.V. drip of 4.5% albumin, give prophylactic antibiotics, and consider anti-coagulation with LMWH
B. Refer the child for a renal biopsy to be examined under light microscopy, and begin steroids in the meantime
C. Use furosemide as a first line option to relieve oedema and recommend dietary salt-restriction, then consider ACEi and NSAIDs if needed
D. Reassure the father this is a common and benign childhood condition, tell him to return if any other symptoms develop, prescribe a course of steroids
E. Reassure the father that 80% of cases resolve within 6 months, and that if symptoms persist beyond that or progress to include SOB, he should bring his daughter to hospital
D. Reassure the father this is a common and benign childhood condition, tell him to return if any other symptoms develop, prescribe a course of steroids
This history describes nephrotic syndrome (triad of oedema, proteinuria, hypoalbuminaemia) in a child with no other symptoms. The most common cause of nephrotic syndrome in children is minimal change disease, also known as steroid-sensitive nephrotic syndrome. 85-90% of acute cases will resolve in response to steroids (i.e. is minimal change disease) and these children will not go on to develop chronic kidney disease. Prognosis long-term follows the rule of thirds: 1/3 will resolve and never have another episode, 1/3 will have infrequent relapses, and 1/3 will have frequent relapses/ become steroid-dependent.
That said, there are some potentially serious complications of minimal change disease:
Intravascular volume depletion due to oedema formation
Thrombosis due to antithrombin loss in urine and concentration of serum plasma making it more viscous and coagulable
Infection due to loss of immunoglobulin in the urine
Hypercholesterolaemia as a result of low albumin through an unknown mechanism
A biopsy may be taken if the patient does not respond to steroids as this implies there may be a different diagnosis. However a biopsy of minimal change disease will not look abnormal on light microscopy: abnormalities will only be seen on electron microscopy.
A 10 year old with known asthma is seen in an asthma clinic because his symptoms are not being adequately controlled on his current medication. He is taking preventative low dose ICS with an LTRA and a salbutamol inhaler for PRN symptom relief, but finds himself needing two puffs of salbutamol several times a week. He has also been woken from sleep on a few occasions and has been unable to play football with his friends.
How should this child be managed?
A. Increase the dose of the ICS to moderate
B. Stop the LTRA and begin a LABA instead
C. Begin a MART regimen
D. Increase the dose of the ICS to moderate, and add a LABA
E. Increase the ICS to a high dose, and consider addition of theophylline
B. Stop the LTRA and begin a LABA instead
Asthma guidelines for 5-16 year olds: SABA alone SABA + low dose ICS SABA + low dose ICS + LTRA SABA + low dose ICS + LABA MART with low dose ICS MART with moderate dose ICS OR SABA + moderate dose ICS + LABA
A 3 year old boy is brought to A&E with acute abdominal pain. Abdominal examination is unremarkable, but on routine examination of the genitalia, a scrotal mass is noted. The mass is red, tender, and whilst examining him the doctor observes an episode where the child draws his legs up and cries incessantly, though it passes after a minute.
How should this patient be managed
A. Take bloods including an FBC, blood cultures, and CRP then give I.V. Hartmann’s and empirical antibiotics
B. Send the patient for emergency exploratory surgery and orchidopexy
C. Give opioid analgesia and attempt to reduce the lump
D. Establish I.V. access, insert an NG tube, make the patient NBM, send them for exploratory laparoscopy
E. Obtain an urgent USS scan of the scrotal mass
C. Give opioid analgesia and attempt to reduce the lump
This is a hernia which has become incarcerated: i.e. it has become trapped and has started to obstruct the bowel. This hernia is probably not strangulated yet (i.e. the blood supply is not obstructed) as this would present with a more dire picture, but it is possible.
The first option should be to try and reduce the hernia, as with good analgesia this is usually possible and will de-obstruct the bowel and restore the blood supply. If reduction is successful, surgery usually follows within 48 hours as 15% of inguinal hernias will recur. If reduction is unsuccessful, the hernia must be managed surgically, so either way this patient will eventually need surgery.
Various signs can be used to help distinguish epididymo-orchitis from testicular torsion, match each one with its description:
A. Horizontal contralateral testis
B. Elevation of the affected testis relieves pain
C. Affected testis sits higher
D. Movement of ipsilateral testis on stroking of the thigh
- Prehn’s sign
- Deming’s sign
- Cremasteric reflex
- Angel’s sign
A. Horizontal contralateral testis - 4. Angel’s sign
B. Elevation of the affected testis relieves pain - 1. Prehn’s sign
C. Affected testis sits higher - 2. Deming’s sign
D. Movement of ipsilateral testis on stroking of the thigh - 3. Cremasteric reflex
The paediatric registrar is called to see a 48 hour old neonate who has been vomiting. The vomiting began shortly after feeding and has been worsening. On examination the baby has pronounced jaundice. Shortly afterwards the baby has a generalised seizure, and a blood gas shows hypoglycaemia.
What is the most likely cause of these symptoms?
A. Hypothyroidism B. G6PD deficiency C. An inborn error of metabolism D. Biliary atresia E. Group B Streptococcal infection
C. An inborn error of metabolism
This presentation is suggestive of galactosaemia: a congenital enzyme deficiency leading to inability to metabolise galactose. This leads to accumulation of toxic metabolites in the blood which if untreated can lead to liver failure, cataracts, delayed growth, and learning difficulties.
Match the following signs/ complications to each of the inborn errors of metabolism
A. PKU
B. Galactosaemia
C. MCADD
- Prolonged neonatal jaundice, liver failure, cataracts, particularly common in Irish travellers
- Fair hair and blue eyes, musty odour, microcephaly, learning difficulties, seizures, brain damage
- Rapidly progressive encephalopathy, collapses from non-ketotic hypoglycaemia if not fed often
- Prolonged neonatal jaundice, liver failure, cataracts, particularly common in Irish travellers - B. Galactosaemia
- Fair hair and blue eyes, musty odour, microcephaly, learning difficulties, seizures, brain damage - A. PKU
- Rapidly progressive encephalopathy, collapses from non-ketotic hypoglycaemia if not fed often - C. MCADD
A 9 month old boy is brought to A&E when his mother notices a scrotal lump. Upon examination and investigation, this is diagnosed as a inguinal hernia. The boy does not seem to be in pain, and his obs are stable.
How should this patient be managed?
A. Reassure the mother that most inguinal hernias before the age of 3 self-resolve, tell her to return if her child develops any symptoms or if the lump is still present in 6 months
B. Attempt to reduce the lump, and if successful discharge the boy home
C. Make a routine referral to a general paediatric surgeon for repair of the hernia
D. Make an urgent referral to a general paediatric surgeon for repair of the hernia
E. Make an emergency referral to a general paediatric surgeon for repair of the hernia
D. Make an urgent referral to a general paediatric surgeon for repair of the hernia
The hernia described here is clearly not incarcerated or strangulated, so there is no immediate concern for the child’s health. However given the boy’s age (less than 1 year old) there is an increased risk of incarceration and strangulation because the deep inguinal ring (through which the bowel herniates) is very small. Accordingly this child needs urgent, but not emergency surgery.
‘A’ is true of hydroceles but not hernias - most resolve by age 3 and so unless there are worrying features, children under 3 are usually not managed surgically. There should be an effort to reduce the hernia, as even when incarcerated most hernias can be reduced with sufficient analgesia, but 15% will recur so definitive management with surgery is standard practice.
A baby boy is seen by the community midwife for his 6 week check. The examination is normal until she examines his genitals, and can only palpate one testis in the scrotum, and cannot palpate the other in the groin.
How should this baby be managed?
A. Take basic obs and a blood gas with electrolytes to make sure they are stable, then urgently refer to endocrine specialists, and perform karyotyping
B. Re-check at 4 months of age
C. Perform an USS of the inguinal canal to locate the undescended testis
D. Order a CT scan of the pelvis to locate the undescended testis
E. Review the child again at 1 year of age
B. Re-check at 4 months of age
Imaging is generally not recommended in cases of undescended testes. If the absent testis can be palpated in the groin, it may be possible to coax it into the scrotum with pressure along the inguinal canal. If a child’s testis is undescended at birth they are re-examined at 6-8 weeks, then at 4-5 months. If the testicle is still undescended they should be seen by a specialist by 6 months of age.
This child will likely need a laparoscopy as the testis seems to be intra-abdominal. Around 10% of impalpable testes are later found to be absent, so laparoscopy is needed to establish the existence and location of the testis, then orchidopexy will be needed to fix it in place. Undescended testes should be surgically managed before 1 year of age, as spontaneous descent after this age is unlikely, and resolving the issue before 1 has been shown to improve function of the testis.
A 10 year old boy is brought to A&E by his mother with testicular pain. The pain began the day before in the afternoon, and has now worsened. On examination, the scrotum is swollen and red, and too tender for the boy to allow it to be examined. His HR and RR are slightly elevated, but all other observations are normal.
What is the most likely diagnosis, and how should this child be managed?
A. Epididymo-orchitis; give oral levofloxacin and take a urethral swab
B. Testicular torsion; immediate exploratory surgery
C. Testicular torsion; manage pain with analgesia and book a Doppler USS
D. Torsion of the appendix testis; immediate exploratory surgery
E. Torsion of the appendix testis; manage pain with analgesia and book a Doppler USS
D. Torsion of the appendix testis; immediate exploratory surgery
The appendix testis (also known as the testicular appendage or the Hydatid of Morganagni) is a Mullerian remnant usually found on the upper section of the testis and present in most males. Torsion of this remnant is more common than testicular torsion, and generally presents less dramatically. This fits with the clinical picture in this question and so is the most likely differential. However the consequences of missing testicular torsion are severe, and this case history is not sufficient to confidently rule out torsion, so exploratory surgery should be carried out in case of testicular torsion.
The ‘blue dot’ sign may be seen on the scrotum in cases of torsion of the testicular appendage, and may be enough evidence to rule out testicular torsion, but if in doubt err on the side of caution and assume the testicle is torted until you can prove otherwise.
A 9 year old girl is brought by her father to see the GP for abdominal pain. This has been ongoing for several months and is a generalised cramping pain that comes and goes. Her bowel habit has also changed, with her stools becoming looser and more frequent. A panel of routine blood tests reveal a microcytic anaemia, but no other abnormalities.
Which of the following tests would be most appropriate in this patient?
A. Iron studies B. Endoscopy C. A duodenal biopsy D. Trial of a gluten free diet E. Anti-tTG antibody serology
E. Anti-tTG antibody serology
A 30 year old woman visits her GP for antenatal counselling, she is not currently pregnant but plans to become pregnant. She has been reading that the carrier gene for cystic fibrosis (CF) is common and has some questions about the disease.
Which of the following is incorrect?
A. The average life expectancy of someone with cystic fibrosis is around 35-40 years
B. Pancreatic exocrine function is usually affected, and males are rarely fertile
C. The CF gene is most commonly found among Caucasians, 4% of whom carry it, and the disease has an incidence of ~1 in 2500
D. People with CF are susceptible to recurrent respiratory infections with abnormal pathogens e.g. P aeruginosa
E. CF is screened for in the 5 day old heel prick test
A. The average life expectancy of someone with cystic fibrosis is around 35-40 years
The paediatric registrar is called to see a 2 day-old neonate on the post-natal ward who has rapidly developed cyanosis. The child looks dusky and their O2 sats are 70%, which has not been improved by giving 15L oxygen. The ECG that has been hurriedly attached shows a normal trace.
What is the most important next step in this patient’s management?
A. Establish I.V. access and give 20ml/kg crystalloid fluid over 15 minutes
B. Intubate and bag-mask ventilate the neonate
C. Perform an emergency tracheotomy
D. Give a prostaglandin infusion and consider a balloon atrial septostomy
E. Begin the paeds CPR algorithm
D. Give a prostaglandin infusion and consider a balloon atrial septostomy
This is a presentation of dextro-Transposition of the Great Arteries, where the Pulmonary Artery and Aorta have essentially been swapped. This creates two separate circulations that can only mix through fetal circulatory adaptations (foramen ovale and ductus arteriosus). These adaptations usually close at birth or within a few days, and if there are no other defects that allow mixing of the two circulations (e.g. septal defects) then the baby will rapidly develop profound cyanosis and desaturation within the first few days of life. Prostaglandin infusion prevents closure of the ductus arteriosus to maintain mixing between the circulations, and a baloon atrial septostomy is an emergency measure used to perforate the atrial septum to re-link the two circulations if needed.
Transposition of the Great Arteries is an example of a ‘duct-dependent circulation’. Other examples include pulmonary atresia, hypoplastic left heart syndrome, Aortic arch interruption and coarctation of the Aorta. These conditions will present similarly, and all require the same initial management of maintaining a patent ductus arteriosus.
NB: Tetralogy of Fallot may be duct-dependent if pulmonary atresia features
A baby is brought to the GP by his mother for his 6 week check. During the check the mother voices concern at some of the noises he has been making when breathing. She imitates them and makes an inspiratory wheezing noise. The doctor asks more questions, but the mother says her son has not seemed unwell, has not had a cough, has been feeding and is going to the toilet as normal. He was born at term and weighed 3.7kg, and his weight is still following its centile.
What is the most likely diagnosis?
A. Bronchopulmonary dysplasia B. Atypical pneumonia C. Laryngomalacia D. Croup E. Reactive airway disease
C. Laryngomalacia
Laryngomalacia is the most common cause of stridor in children and occurs due to a lack of tone in the immature upper airway. This usually presents as stridor with no other symptoms or complications, and in the majority of cases it will self-resolve in time. Surgery may rarely be necessary.
A 5 year old girl is brought to see the GP by her father after she developed a rash. She has been feeling unwell for a couple of days and has now developed a diffuse, itchy vesicular rash on her trunk. The father says there has been something similar going around her school, and that she has previously been fit and healthy.
How should this patient be managed?
A. Prescribe oral aciclovir for a week and tell the father to return if her symptoms worsen or persist
B. Contact trace the child so that any people who may have been exposed can be notified
C. Tell the father to keep the girl home till the rash has disappeared, and notify Public Health England
D. Advise her father to keep her at home until the vesicles form pustules and crusts over
E. Tell the father to keep the girl home till the rash has disappeared
D. Advise her father to keep her at home until the vesicles form pustules and crusts over
People with chicken pox are most infectious in the few days before they develop a rash, but once the rash degenerates into pustules and all pustules have crusted over, they are no longer infectious.
A 2 year old boy is brought to A&E by his worried mother after he developed noisy breathing. He has and has had a runny nose and fever for the past few days, and has now also developed a strange, barking cough. On examination his respiratory effort does not seem increased, and though he is unhappy, he does not seem generally unwell. The doctor does hear some stridor, but not when the child is at rest. His observations are normal bar a mild fever.
How should this child be managed?
A. Give 15L oxygen, establish I.V. access, then watch and wait
B. Trial a salbutamol nebuliser and reassess the child
C. Give 10 puffs of salbutamol inhaler through a spacer
D. Discharge and reassure
E. Give 0.15mg/kg oral dexamethasone
E. Give 0.15mg/kg oral dexamethasone
In reality this is probably case dependent, but according to NICE all Croup patients gets oral dexamethasone regardless of severity. Admission of a child with Croup is dependent on severity of the disease: if there is stridor at rest, sternal/ intercostal recession, or agitation or lethargy the child should be admitted.
A 50 year old woman visits the GP with concerns she may have been exposed to an infection. She is undergoing chemotherapy for breast cancer and is aware that she is immunosuppressed, but spent the previous two days visiting and playing with her nephew who has now developed chicken pox. He did not have a rash while she was there, but has developed it today and she is worried about her exposure to him.
How should this
A. Vaccinate her against Varicella-Zoster
B. Reassure her that if there was no rash present while she was in contact with her nephew, he will not have been infectious
C. Ask her to return in a week and take a blood test for PCR then
D. Prescribe a course of prophylactic aciclovir
E. Give her Varicella-Zoster Immunoglobulin
E. Give her Varicella-Zoster Immunoglobulin
Because this woman is immunosuppressed, she is at risk of infection with VZV, and if infected she is at risk of particularly nasty disease e.g. pneumonitis, disseminated disease, encephalitis. Even immunocompetent adults are at increased risk of VZV pneumonitis if they are not immune, so this woman is particularly high risk. People with chicken pox are most infectious in the few days before they develop a rash, and given how infectious chicken pox is, it is likely she has caught it. Accordingly she needs Immunoglobulin to protect her from developing infection.
The neonatal registrar is called to see a baby who was born vaginally without complications and is only a few hours old, but has developed increased work of breathing. The neonate’s O2 sats are 87%, RR is 70 bpm, and examination shows little to no air entry on the left, a medially displaced apex beat, and a noticeably concave abdomen.
What is the most likely diagnosis, and what complication is most likely to be associated with it?
A. Congenital diaphragmatic hernia - renal anomalies
B. Respiratory distress syndrome - pneumothorax
C. Congenital diaphragmatic hernia - pulmonary hypoplasia
D. Respiratory distress syndrome - bronchopulmonary dysplasia
E. Necrotising enterocolitis - malnutrition
C. Congenital diaphragmatic hernia - pulmonary hypoplasia
This is a description of a presentation of a congenital diaphragmatic hernia: a condition where bowel herniates into the chest cavity (usually the left side) and compresses the lung. This condition carries a high mortality which is mostly dependent on the degree of accompanying pulmonary dysplasia. There are differing suggestions as to how the hernia causes the dysplasia, whether it compresses the lung and prevents it developing, or whether the two issues share an embryological causative defect.
