Specialities - 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.
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 presentaitons, 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, and displays nasal flaring and sub-costal recession. A chest x-ray reveals a diffuse granular - or ‘ground-glass’ - appearance.
What is the most likely diagnosis?
A. Croup B. Bronchiolitis C. Pulmonary fibrosis D. Respiratory distress syndrome E. Pulmonary oedema
D. Respiratory distress syndrome
Respiratory distress syndrome 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 mild fine motor delay B. There is moderate gross motor delay C. There is no developmental delay D. The child is precociously developed E. There is mild speech delay
A. There is mild 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. It is 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 shortly sent 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. Bordella Pertussis E. Influenza
D. Bordella Pertussis
This is a history of whooping cough: a disease caused by Bordella pertussis which has its peak incidence in 3 year-olds. Bordella 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.
A neonate is noted to have a purpuric rash. A quick examination reveals microcephaly and hepatosplenomegaly. The baby was IUGR, and a CT head shows enlarged ventricles.
What is the most likely cause of these findings?
A. Congenital cytomegalovirus infection B. Folate deficiency C. Genetic microdeletions D. Fetal alcohol syndrome E. Congenital hypothyroidism
A. Congenital cytomegalovirus infection
The most important organisms in congenital infection are the ‘ToRCH’ organisms: Toxoplasmosis, Rubella, Cytomegalovirus, and Herpes Simplex. Syphyllis 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 gestational age of infection: the earlier the fetus was infected, the worse the outcome. 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 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 go 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.
What is the most likely diagnosis?
A. Measles B. Infectious mononucleosis C. Scarlet fever D. Staphylococcus scalded skin syndrome E. Kawasaki disease
E. 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 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 4 week-old neonate develops drowsiness and irritability with a fever; they also stop feeding. Shortly afterwards they have a generalised seizure. Examination reveals a tense anterior fontanelle, respiratory distress, and backwards arching of the neonate’s neck, as well as hypoglycaemia. The mother’s medical notes say the baby was born at 34 weeks, there was prolonged rupture of the membranes at labour, 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
A 10 year-old girl is brought to hospital by her parents with fever and arthralgia. Whilst in the consultation, you note the child making strange jerking movements occasionally, and you see subcutaneous nodules on her hands. Their family has recently immigrated to the UK from India.
What is the most likely diagnosis?
A. IgA nephropathy B. Tuberculosis C. Systemic Lupus Erythematosus D. Rheumatic fever E. Post-streptococcal glomerulonephritis
D. Rheumatic fever
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.
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.
Whilst rheumatic fever is now extremely rare in the developed world (<1 in a million), it is still prevalent in parts of the developing world, especially where there is malnutrition, overcrowding, high levels of socioeconomic disadvantage, and poor access to healthcare.
90% of cases resolve within 12 weeks, and management centres on reducing inflammation with NSAIDs and corticosteroids to manage symptoms and heart damage, and giving antibiotics to eradicate Streptococcus pyogenes.
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, examination reveals tachynpnoea, lethargy, and vomiting. 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 feverish, but has cool peripheries and reduced skin turgor, and there is a small amount of blood in her nappy.
How should this patient be managed?
A. P.O. Vancomycin B. Oral rehydration therapy C. Electroconvulsive therapy D. I.V. Vancomycin E. Monitor and wait
B. Oral rehydration therapy
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.
A 7 year-old presents with a high pitched noise on expiration, noticed by his mother, that started shortly 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 most likely cause of the noise?
A. Bronchiolitis B. Viral-induced wheeze C. Asthma D. Croup E. Pneumonia
B. Viral-induced wheeze
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.
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).
