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  • Question 1 - A 4-week-old girl is brought to the paediatric emergency department with a fever,...

    Correct

    • A 4-week-old girl is brought to the paediatric emergency department with a fever, vomiting and reduced appetite for the past 48 hours. The baby's growth and development have been normal so far. During the examination, the baby appears lethargic and fussy, with a respiratory rate that is faster than normal and a temperature of 39ºC. Blood pressure and pulse rate are within the normal range, and there are no signs of raised intracranial pressure. The medical team suspects bacterial meningitis and performs a lumbar puncture. What should be done while waiting for the lumbar puncture results?

      Your Answer: Start empirical antibiotics only

      Explanation:

      It is not recommended to use corticosteroids in children under 3 months of age who have suspected or confirmed bacterial meningitis. The most common organisms causing bacterial meningitis vary depending on the age of the child. For neonates up to 3 months old, Group B streptococcus, E.coli, and Listeria monocytogenes are the most common. For children between 1 month and 6 years old, Neisseria meningitidis, Streptococcus pneumoniae, and Haemophilus influenzae are the most common. For children over 6 years old, Neisseria meningitidis and Streptococcus pneumoniae are the most common. In older children with bacterial meningitis, dexamethasone may reduce the risk of hearing loss, particularly in those with Hib meningitis. However, it should be avoided in children under 3 months old with suspected or confirmed bacterial meningitis, as well as those with certain central nervous system abnormalities or nonbacterial meningitis. Activated protein C and recombinant bacterial permeability-increasing protein should not be used in children and young people with meningococcal septicaemia. Treatment should not be delayed for a CT scan, as bacterial meningitis is a medical emergency. Intravenous immunoglobulins are not currently recommended for the management of meningitis.

      Investigation and Management of Meningitis in Children

      Meningitis is a serious condition that can affect children. When investigating meningitis, it is important to note any contraindications to lumbar puncture, such as signs of raised intracranial pressure, focal neurological signs, papilloedema, significant bulging of the fontanelle, disseminated intravascular coagulation, or signs of cerebral herniation. For patients with meningococcal septicaemia, a lumbar puncture is contraindicated, and blood cultures and PCR for meningococcal should be obtained instead.

      The management of meningitis in children involves administering antibiotics, such as IV amoxicillin (or ampicillin) and IV cefotaxime for children under three months, and IV cefotaxime (or ceftriaxone) for children over three months. Steroids should be considered if the lumbar puncture reveals certain findings, such as purulent cerebrospinal fluid, a high white blood cell count, or bacteria on Gram stain. Fluids should be administered to treat shock, and cerebral monitoring should be conducted, including mechanical ventilation if necessary.

      It is also important to notify public health authorities and administer antibiotic prophylaxis to contacts. Ciprofloxacin is now preferred over rifampicin for this purpose. Overall, prompt and appropriate management of meningitis in children is crucial for ensuring the best possible outcomes.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 2 - A 7-week old infant has been admitted to the hospital due to concerns...

    Correct

    • A 7-week old infant has been admitted to the hospital due to concerns from her father about her inability to keep down feeds. The father reports that shortly after being fed, the baby forcefully vomits up uncurdled milk. He is anxious because the baby does not seem to be gaining weight. Based on the probable diagnosis, what metabolic irregularity is the patient expected to exhibit?

      Your Answer: Hypochloremic hypokalemic metabolic alkalosis

      Explanation:

      Pyloric stenosis is the probable diagnosis when a newborn experiences non-bilious vomiting during the first few weeks of life. This condition results in the loss of hydrochloric acid (HCl) from the stomach contents, leading to hypochloremia and potassium loss. The metabolic alkalosis is caused by the depletion of hydrogen ions due to the vomiting of stomach acid.

      Understanding Pyloric Stenosis

      Pyloric stenosis is a condition that usually occurs in infants between the second and fourth weeks of life. However, in rare cases, it may present later, up to four months. This condition is caused by the thickening of the circular muscles of the pylorus. Pyloric stenosis is more common in males, with an incidence of 4 per 1,000 live births. It is also more likely to affect first-borns and infants with a positive family history.

      The most common symptom of pyloric stenosis is projectile vomiting, which usually occurs about 30 minutes after a feed. Other symptoms may include constipation, dehydration, and a palpable mass in the upper abdomen. Prolonged vomiting can lead to hypochloraemic, hypokalaemic alkalosis, which can be life-threatening.

      Diagnosis of pyloric stenosis is typically made using ultrasound. Management of this condition involves a surgical procedure called Ramstedt pyloromyotomy. This procedure involves making a small incision in the pylorus to relieve the obstruction and allow for normal passage of food. With prompt diagnosis and treatment, infants with pyloric stenosis can make a full recovery.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 3 - A 3-year-old girl with a 2-day history of coughing is brought in by...

    Correct

    • A 3-year-old girl with a 2-day history of coughing is brought in by her father. The cough is non-productive in nature. On examination, she has no accessory muscle usage and is afebrile. On auscultation, she is noted to have a left-sided wheeze.
      What is the most likely cause of this?

      Your Answer: Inhaled foreign body

      Explanation:

      Pediatric Wheezing: Causes and Characteristics

      Pediatric wheezing can be caused by various conditions, each with its own unique characteristics. Unilateral wheeze in a child under three years old is often associated with inhalation of a foreign body, which can partially or completely obstruct the airway. Bronchiolitis, typically caused by respiratory syncytial virus, initially presents as an upper respiratory tract infection and progresses to a lower respiratory tract infection with bilateral wheeze, cough, and difficulty breathing. Pneumonia may also cause wheezing, but is typically accompanied by systemic symptoms such as fever and crepitations on auscultation. Asthma, a common cause of pediatric wheezing, is characterized by bilateral expiratory wheezing due to premature bronchiole collapse. Croup, caused by a parainfluenza virus, presents with a barking cough, stridor, and respiratory distress, and is treated with dexamethasone.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 4 - A 38-week-old neonate has been born with an abdominal defect described as 7...

    Correct

    • A 38-week-old neonate has been born with an abdominal defect described as 7 cm of herniated bowel through the abdominal wall. The bowel is exposed without a covering. The patient is hypotensive (50/30), tachycardic (220 bpm) and hypothermic (35.2 °C). Bloods were taken, which showed the following:
      Investigation Result Normal value
      Haemoglobin 190 g/l Female: 115–155 g/l
      Male: 135–175 g/l
      White cell count 30 × 109/l 4–11 × 109/l
      C-reactive protein (CRP) 25 mg/l 0–10 mg/l
      What is the most appropriate management?

      Your Answer: Incubate, fluid-resuscitate, pass nasogastric (NG) tube, surgery within a few hours

      Explanation:

      Management of Gastroschisis in Neonates

      Gastroschisis is a condition in which the abdominal contents herniate through the abdominal wall, without the covering of a sac of amniotic membrane and peritoneum. This poses a higher risk to the neonate than exomphalos, which has a covering. The management of gastroschisis involves incubation to maintain body temperature, fluid-resuscitation to prevent dehydration and hypovolaemia, and surgical intervention within a few hours, unless there is evidence of impaired bowel perfusion. Elective surgery is not appropriate for gastroschisis. Restricting fluids would result in organ hypoperfusion and death. Abdominal X-rays are not necessary, and surgical review is obviously appropriate, but surgical intervention is the priority.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 5 - A 16-year-old girl from Manchester is presented to the emergency room by her...

    Correct

    • A 16-year-old girl from Manchester is presented to the emergency room by her father with complaints of abdominal discomfort for the past 48 hours. Upon examination, there is a suspicion of appendicitis and a recommendation for hospitalization is made. However, the patient refuses to be admitted as she has a concert to attend tonight. Despite being fully informed of the potential consequences of untreated appendicitis, she insists on leaving. What is the best course of action in this scenario?

      Your Answer: His mother may overrule his wishes

      Explanation:

      In England and Wales, a child can provide consent for treatment, but cannot decline it. The demonstration of capacity, as per the Fraser guidelines, is not a significant factor.

      Guidelines for Obtaining Consent in Children

      The General Medical Council has provided guidelines for obtaining consent in children. According to these guidelines, young people who are 16 years or older can be treated as adults and are presumed to have the capacity to make decisions. However, for children under the age of 16, their ability to understand what is involved determines whether they have the capacity to decide. If a competent child refuses treatment, a person with parental responsibility or the court may authorize investigation or treatment that is in the child’s best interests.

      When it comes to providing contraceptives to patients under 16 years of age, the Fraser Guidelines must be followed. These guidelines state that the young person must understand the professional’s advice, cannot be persuaded to inform their parents, is likely to begin or continue having sexual intercourse with or without contraceptive treatment, and will suffer physical or mental health consequences without contraceptive treatment. Additionally, the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent.

      Some doctors use the term Fraser competency when referring to contraception and Gillick competency when referring to general issues of consent in children. However, rumors that Victoria Gillick removed her permission to use her name or applied copyright have been debunked. It is important to note that in Scotland, those with parental responsibility cannot authorize procedures that a competent child has refused.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 6 - A 36-month-old girl is brought to the paediatric clinic. She is an orphaned...

    Incorrect

    • A 36-month-old girl is brought to the paediatric clinic. She is an orphaned refugee who recently arrived in the United Kingdom and has no medical history.

      Her foster parents have brought her to the clinic as they have noticed that she becomes easily breathless on exertion or after a bath and squats down to catch her breath. During these times, they notice that her lips turn blue.

      Upon examination, you find that she is on the 10th centile for height and weight, her lips are slightly dusky, she has good air entry bilaterally in her chest, and she has a normal heart rate at rest with a loud ejection systolic murmur at the upper left sternal edge with an associated thrill.

      A chest x-ray reveals decreased vascular markings and a normal-sized heart. Electrocardiography (ECG) shows sinus rhythm with right axis deviation and deep S waves in V5 and V6.

      What is the most likely diagnosis?

      Your Answer: Eisenmenger's syndrome

      Correct Answer: Tetralogy of Fallot

      Explanation:

      Tetralogy of Fallot (TOF) is a common cyanotic congenital heart condition characterized by four abnormalities. Symptoms are determined by the degree of shunting of deoxygenated blood from right to left, which is influenced by the degree of right ventricular outflow tract obstruction (RVOTO) and other ways blood can get to the lungs. Squatting can relieve cyanotic episodes by increasing peripheral vascular resistance. The child in question has a loud ejection systolic murmur at the upper left sternal edge in keeping with the turbulent flow of blood across the stenosed RVOT. Isolated pulmonary stenosis is a possible differential diagnosis, but the history of squatting is highly suggestive of TOF.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 7 - What is the preferred investigation for diagnosing vesicoureteric reflux in pediatric patients? ...

    Correct

    • What is the preferred investigation for diagnosing vesicoureteric reflux in pediatric patients?

      Your Answer: Micturating cystourethrogram

      Explanation:

      Understanding Vesicoureteric Reflux

      Vesicoureteric reflux (VUR) is a condition where urine flows back from the bladder into the ureter and kidney. This is a common urinary tract abnormality in children and can lead to urinary tract infections (UTIs). In fact, around 30% of children who present with a UTI have VUR. It is important to investigate for VUR in children following a UTI as around 35% of children develop renal scarring.

      The pathophysiology of VUR involves the ureters being displaced laterally, which causes a shortened intramural course of the ureter. This means that the vesicoureteric junction cannot function properly. VUR can present in different ways, such as hydronephrosis on ultrasound during the antenatal period, recurrent childhood UTIs, and reflux nephropathy, which is chronic pyelonephritis secondary to VUR. Renal scarring can also produce increased quantities of renin, which can cause hypertension.

      To diagnose VUR, a micturating cystourethrogram is usually performed. A DMSA scan may also be done to check for renal scarring. VUR is graded based on the severity of the condition, with Grade I being the mildest and Grade V being the most severe.

      Overall, understanding VUR is important in preventing complications such as UTIs and renal scarring. Early diagnosis and management can help improve outcomes for children with this condition.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 8 - A 6-hour-old neonate born at 38 weeks gestation is being evaluated on the...

    Incorrect

    • A 6-hour-old neonate born at 38 weeks gestation is being evaluated on the postnatal ward. The midwives have observed that the baby is jittery and has irregular breathing. The mother had gestational diabetes. At 6 hours old, a heel prick blood glucose measurement was taken and showed the following result:
      Glucose 1.2 mmol/L (1.5 – 6)
      Apart from these symptoms, the baby appears to be healthy without other complications. What is the most appropriate course of action for managing this newborn?

      Your Answer: Keep on postnatal ward and encourage to breastfeed

      Correct Answer: Admit to neonatal unit and give IV 10% dextrose

      Explanation:

      To manage a newborn with symptomatic hypoglycaemia, the appropriate course of action is to administer a bolus of dextrose to prevent further neurological symptoms such as seizures, coma or apnoea. Admitting the infant to the neonatal unit is recommended to ensure proper care is provided, but breastfeeding alone is not sufficient to correct the hypoglycaemia quickly enough to prevent potential complications. Keeping the infant on the postnatal ward and encouraging breastfeeding is inappropriate, as this setting is not equipped to manage a potentially severely unwell infant. Repeating the heel prick glucose measurement in one hour is unnecessary, as one measurement is enough to initiate treatment without waiting for a second confirmatory test. Obtaining a venous sample for laboratory glucose testing is also unnecessary, as a heel prick test is accurate enough to confirm the hypoglycaemia and treatment should not be delayed while awaiting laboratory confirmation.

      Neonatal Hypoglycaemia: Causes, Symptoms, and Management

      Neonatal hypoglycaemia is a common condition in newborn babies, especially in the first 24 hours of life. While there is no agreed definition, a blood glucose level of less than 2.6 mmol/L is often used as a guideline. Transient hypoglycaemia is normal and usually resolves on its own, but persistent or severe hypoglycaemia may be caused by various factors such as preterm birth, maternal diabetes mellitus, IUGR, hypothermia, neonatal sepsis, inborn errors of metabolism, nesidioblastosis, or Beckwith-Wiedemann syndrome.

      Symptoms of neonatal hypoglycaemia can be autonomic, such as jitteriness, irritability, tachypnoea, and pallor, or neuroglycopenic, such as poor feeding/sucking, weak cry, drowsiness, hypotonia, and seizures. Other features may include apnoea and hypothermia. Management of neonatal hypoglycaemia depends on the severity of the condition and whether the newborn is symptomatic or not. Asymptomatic babies can be encouraged to feed normally and have their blood glucose monitored, while symptomatic or severely hypoglycaemic babies may need to be admitted to the neonatal unit and receive intravenous infusion of 10% dextrose.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 9 - A 3-day-old neonate born at term is presenting with tachypnoea, grunting, and cyanosis....

    Correct

    • A 3-day-old neonate born at term is presenting with tachypnoea, grunting, and cyanosis. The baby is unable to feed and has an oxygen saturation of 70% on room air. On auscultation, a loud S2 and systolic murmur are heard, which is loudest at the left sternal border. The doctors suspect transposition of the great arteries and have started the baby on intravenous fluids, antibiotics, and scheduled surgery. What additional medication should be given in the meantime?

      Your Answer: Prostaglandin E1

      Explanation:

      To maintain a patent ductus arteriosus in cyanotic congenital heart diseases, prostaglandin E1 should be administered. It is helpful to recall the 5 T’s for cyanotic CHD, which include Tetralogy of Fallot, Transposition of Great Vessels (TGA), Tricuspid Atresia, Total Anomalous Pulmonary Venous Return, and Truncus Arteriosus. Based on the timing of onset and heart murmur, the patient in this case likely has TGA with a concurrent VSD. TGA typically presents shortly after birth. Prostaglandin E1 is given in ductal dependent cyanotic heart diseases to prevent closure of the patent ductus arteriosus until surgical correction can be performed. This allows for mixing of oxygenated and deoxygenated blood to ensure adequate systemic circulation. Antibiotics should also be administered as prophylaxis for bacterial endocarditis. It is important to note that nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin and ibuprofen will actually close the ductus arteriosus and should not be used in this situation.

      Cyanosis, a bluish discoloration of the skin, is a common occurrence in newborns. Peripheral cyanosis, which affects the hands and feet, is often seen in the first 24 hours of life and can be caused by crying or illness. Central cyanosis, on the other hand, is a more serious condition that occurs when the concentration of reduced hemoglobin in the blood exceeds 5g/dl. To differentiate between cardiac and non-cardiac causes of central cyanosis, doctors may use the nitrogen washout test, which involves giving the infant 100% oxygen for ten minutes and then measuring arterial blood gases. A pO2 of less than 15 kPa indicates cyanotic congenital heart disease, which can be caused by conditions such as tetralogy of Fallot, transposition of the great arteries, and tricuspid atresia.

      If cyanotic congenital heart disease is suspected, initial management involves supportive care and the use of prostaglandin E1, such as alprostadil, to maintain a patent ductus arteriosus in ductal-dependent congenital heart defects. This can serve as a temporary measure until a definitive diagnosis is made and surgical correction is performed.

      Acrocyanosis, a type of peripheral cyanosis, is a benign condition that is often seen in healthy newborns. It is characterized by bluish discoloration around the mouth and extremities, such as the hands and feet, and is caused by vasomotor changes that result in peripheral vasoconstriction and increased tissue oxygen extraction. Unlike other causes of peripheral cyanosis that may indicate significant pathology, such as septic shock, acrocyanosis occurs immediately after birth in healthy infants and typically resolves within 24 to 48 hours.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 10 - A father brings his 5-year-old daughter to the paediatric emergency department. She has...

    Correct

    • A father brings his 5-year-old daughter to the paediatric emergency department. She has a fever and he has noticed raised nodes on her neck. Despite giving her paracetamol and ibuprofen, her temperature is not decreasing. Her lips have become extremely dry and cracked, and her tongue is red and slightly swollen. The father has also noticed that her feet are now red and puffy, and she is developing a widespread fine rash. What is the probable diagnosis?

      Your Answer: Kawasaki's disease

      Explanation:

      An eruption characterized by tender papules and vesicles can develop on the hands and feet. Measles typically presents with a fever and symptoms of a cold. Koplik’s spots, which are bright red with a bluish white center, may appear on the oral mucosa. A maculopapular rash usually appears 3-5 days later. Parvovirus B19 is commonly referred to as slapped cheek syndrome. Scarlet fever may also cause an inflamed tongue, but it would not account for the red and swollen feet that later peel.

      Understanding Kawasaki Disease

      Kawasaki disease is a rare type of vasculitis that primarily affects children. It is important to identify this disease early on as it can lead to serious complications, such as coronary artery aneurysms. The disease is characterized by a high-grade fever that lasts for more than five days and is resistant to antipyretics. Other symptoms include conjunctival injection, bright red, cracked lips, strawberry tongue, cervical lymphadenopathy, and red palms and soles that later peel.

      Diagnosis of Kawasaki disease is based on clinical presentation as there is no specific diagnostic test available. Management of the disease involves high-dose aspirin, which is one of the few indications for aspirin use in children. Intravenous immunoglobulin is also used as a treatment option. Echocardiogram is the initial screening test for coronary artery aneurysms, rather than angiography.

      Complications of Kawasaki disease can be serious, with coronary artery aneurysm being the most common. It is important to recognize the symptoms of Kawasaki disease early on and seek medical attention promptly to prevent potential complications.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 11 - A 16-year-old boy attends the Emergency Department (ED) with his father. They are...

    Incorrect

    • A 16-year-old boy attends the Emergency Department (ED) with his father. They are both heavily intoxicated with alcohol. The boy’s records show that this is the fourth time in eight months that he has attended the ED with alcohol-related problems. The safeguarding lead has advised you to contact social services.
      What is the most suitable course of action in this scenario?

      Your Answer: Refer urgently to social services without informing the patient or her mother

      Correct Answer: Inform the patient and her mother you are referring them to social services

      Explanation:

      Referring a Child at Risk to Social Services: Best Practices

      When a child is believed to be at risk, it is crucial to refer them to social services for safeguarding. However, the process of making a referral can be sensitive and requires careful consideration. Here are some best practices to follow:

      1. Inform the patient and their parent/guardian about the referral: It is important to inform the patient and their parent/guardian that a referral to social services is being made. However, if there is a risk that informing them could put the child in further danger, the referral should be made without informing them.

      2. Seek consent for the referral: Consent should be sought from the patient or their parent/guardian before making a referral. If consent is refused, the referral should still be made, but the patient and/or parent must be fully informed.

      3. Refer urgently: If there is a concern that the child is at immediate risk, the referral should be made urgently.

      4. Follow up with a written referral: A phone referral should be made initially, but it is important to follow up with a written referral within 48 hours.

      By following these best practices, healthcare professionals can ensure that children at risk receive the support and protection they need.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 12 - You are in a genetics clinic and explaining to a couple the reason...

    Correct

    • You are in a genetics clinic and explaining to a couple the reason why their daughter has Prader-Willi syndrome. What is the term used to describe the mode of inheritance for Prader-Willi syndrome?

      Your Answer: Imprinting

      Explanation:

      Prader-Willi is an instance of imprinting, where the patient does not inherit the gene from their father. Although the mother’s gene may be normal, the phenotype can still occur, resulting in learning difficulties, hypotonia, obesity, and an insatiable appetite.

      Autosomal recessive occurs when a person inherits a defective gene from both parents, leading to the development of a particular condition. Cystic fibrosis is an example of this.

      Autosomal dominant only requires the inheritance of one defective gene from either parent to develop a condition. Huntington’s disease is an example of this.

      Pleiotropy refers to a single gene causing multiple clinical effects that may seem unrelated when defective.

      Variable expressivity occurs when an inherited genetic defect results in varying levels of clinical effects.

      Prader-Willi Syndrome: A Genetic Imprinting Disorder

      Prader-Willi syndrome is a genetic disorder that is caused by the absence of the active Prader-Willi gene on chromosome 15. This disorder is an example of genetic imprinting, where the phenotype of the individual depends on whether the deletion occurs on a gene inherited from the mother or father. If the gene is deleted from the father, it results in Prader-Willi syndrome, while if it is deleted from the mother, it results in Angelman syndrome.

      There are two main causes of Prader-Willi syndrome: microdeletion of paternal 15q11-13, which accounts for 70% of cases, and maternal uniparental disomy of chromosome 15. Individuals with Prader-Willi syndrome exhibit a range of symptoms, including hypotonia during infancy, dysmorphic features, short stature, hypogonadism and infertility, learning difficulties, childhood obesity, and behavioral problems in adolescence.

      In summary, Prader-Willi syndrome is a genetic disorder that results from the absence of the active Prader-Willi gene on chromosome 15. It is an example of genetic imprinting, and the phenotype of the individual depends on whether the deletion occurs on a gene inherited from the mother or father. Individuals with Prader-Willi syndrome exhibit a range of symptoms, and the disorder can be caused by microdeletion of paternal 15q11-13 or maternal uniparental disomy of chromosome 15.

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      • Paediatrics
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  • Question 13 - You are summoned to the delivery room for the forceps delivery of a...

    Incorrect

    • You are summoned to the delivery room for the forceps delivery of a baby of 37 week gestation who experienced fetal distress during labour. The attending obstetrician passes the baby to you for resuscitation. What is the initial step?

      Your Answer: Assess tone, breathing and heart rate

      Correct Answer: Dry the baby

      Explanation:

      Can you rephrase the algorithm for newborn resuscitation recommended by the UK resuscitation council?

      After birth, the first step is to dry the baby, maintain their temperature, and start timing. Next, assess the baby’s tone, breathing, and heart rate. If the baby is gasping or not breathing, open their airway and give five inflation breaths. Then, reassess the heart rate. If there is no increase, check the chest movement to ensure the inflation breaths are adequate. If the chest is not moving, recheck the head position, consider two-person airway control, and repeat the inflation breaths. If the chest is moving but the heart rate is still undetectable or less than 60 beats per minute, start chest compressions at a ratio of 3 compressions to 1 inflation breath (3:1). Reassess the heart rate every 30 seconds, and if it is still undetectable or very slow, consider IV access and drugs.

      The Apgar score is a tool used to evaluate the health of a newborn baby. It is recommended by NICE to be assessed at 1 and 5 minutes after birth, and again at 10 minutes if the initial score is low. The score is based on five factors: pulse, respiratory effort, color, muscle tone, and reflex irritability. A score of 0-3 is considered very low, 4-6 is moderate low, and 7-10 indicates that the baby is in good health. The score helps healthcare professionals quickly identify any potential issues and provide appropriate care.

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      • Paediatrics
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  • Question 14 - A 6-year-old child complains of difficulty in hearing. He has had several fractures...

    Correct

    • A 6-year-old child complains of difficulty in hearing. He has had several fractures following minor falls. On examination, his legs appear short and deformed, and his sclera appear blue.
      What is the most likely diagnosis?

      Your Answer: Osteogenesis imperfecta

      Explanation:

      Genetic Disorders Affecting Bone and Connective Tissue

      There are several genetic disorders that affect bone and connective tissue, resulting in various physical characteristics and health complications.

      Osteogenesis Imperfecta, also known as brittle bone disease, is a condition where bones are excessively fragile and prone to fractures. Type I, also called osteogenesis imperfecta tarda, is characterized by bony deformities, blue sclera, teeth abnormalities, deafness, and heart valve abnormalities.

      Achondroplasia, previously known as dwarfism, is characterized by short limbs on a normally sized trunk, with a large skull and small face.

      Alport Syndrome is characterized by deafness and renal failure.

      Marfan Syndrome is a connective tissue disorder that results in tall stature, long arms, arachnodactyly, high-arched palate, and pectus excavatum.

      Osteopetrosis, also known as marble bone disease, is a condition where bones are dense and brittle.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 15 - A 6-year-old child is brought to see you by his parents, who are...

    Correct

    • A 6-year-old child is brought to see you by his parents, who are concerned because he wets his bed every night. A urine culture is normal; urine is negative for glucose and protein.
      What would be the most appropriate approach to managing this child's bedwetting?

      Your Answer: Reassurance to parents with general advice

      Explanation:

      Understanding and Managing Nocturnal Enuresis in Children

      Nocturnal enuresis, or bedwetting, is a common issue among children. While it can sometimes be caused by an underlying medical condition, such as a urinary tract infection or diabetes, in most cases it is simply a developmental issue that will resolve on its own over time.

      Parents should have their child tested for any potential medical causes, but if none are found, they can take comfort in knowing that bedwetting is a normal part of childhood for many kids. Treatment is generally not recommended until a child is at least five years old, and even then, simple interventions like star charts and enuresis alarms can be effective in motivated children.

      It’s also important to consider any potential psychological issues that may be contributing to the problem. Parents should ask their child about their school and home life, and try to speak to them without the presence of the parents if possible. Sometimes, stress or anxiety can be a factor in bedwetting.

      If short-term relief is necessary, medications like desmopressin nasal spray can be prescribed for children over five years old. However, prophylactic antibiotics and oral imipramine are not recommended for this condition. Referral to a specialist for an ultrasound scan is also not necessary unless there is an indication of infection or structural abnormality.

      Overall, parents should take comfort in knowing that bedwetting is a common issue that many children experience, and that there are effective interventions available to help manage it.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 16 - A 27-year-old man presents with a persistent cough for the past 20 days...

    Incorrect

    • A 27-year-old man presents with a persistent cough for the past 20 days which initially started with a few days of cold symptoms. He describes it as ‘the worst cough I've ever had’. He has bouts of coughing followed by an inspiratory gasp. This is usually worse at night and can be so severe that he sometimes vomits. He is otherwise fit and well and confirms he completed all his childhood immunisations. Examination of his chest is unremarkable.
      What is the most suitable initial management for this likely diagnosis?

      Your Answer: Start a course of oral prednisolone

      Correct Answer: Start a course of oral clarithromycin

      Explanation:

      If the onset of cough is within the previous 21 days, the recommended first-line treatment for whooping cough is a course of oral clarithromycin or azithromycin. In this case, the correct answer is to start a course of oral clarithromycin as the patient’s history is consistent with whooping cough. Starting treatment within 21 days of onset of the cough can help to reduce the risk of spread. It is incorrect to not start any treatment as the patient has presented within the appropriate timeframe. Offering an immediate booster vaccination is also not indicated in the initial management of the index case, and starting a course of oral doxycycline is not the first-line treatment for whooping cough.

      Whooping Cough: Causes, Symptoms, Diagnosis, and Management

      Whooping cough, also known as pertussis, is a contagious disease caused by the bacterium Bordetella pertussis. It is commonly found in children, with around 1,000 cases reported annually in the UK. The disease is characterized by a persistent cough that can last up to 100 days, hence the name cough of 100 days.

      Infants are particularly vulnerable to whooping cough, which is why routine immunization is recommended at 2, 3, 4 months, and 3-5 years. However, neither infection nor immunization provides lifelong protection, and adolescents and adults may still develop the disease.

      Whooping cough has three phases: the catarrhal phase, the paroxysmal phase, and the convalescent phase. The catarrhal phase lasts around 1-2 weeks and presents symptoms similar to a viral upper respiratory tract infection. The paroxysmal phase is characterized by a severe cough that worsens at night and after feeding, and may be accompanied by vomiting and central cyanosis. The convalescent phase is when the cough subsides over weeks to months.

      To diagnose whooping cough, a person must have an acute cough that has lasted for 14 days or more without another apparent cause, and have one or more of the following features: paroxysmal cough, inspiratory whoop, post-tussive vomiting, or undiagnosed apnoeic attacks in young infants. A nasal swab culture for Bordetella pertussis is used to confirm the diagnosis, although PCR and serology are increasingly used.

      Infants under 6 months with suspected pertussis should be admitted, and in the UK, pertussis is a notifiable disease. An oral macrolide, such as clarithromycin, azithromycin, or erythromycin, is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread. Household contacts should be offered antibiotic prophylaxis, although antibiotic therapy has not been shown to alter the course of the illness. School exclusion is recommended for 48 hours after commencing antibiotics or 21 days from onset of symptoms if no antibiotics are given.

      Complications of whooping cough include subconjunctival haemorrhage, pneumonia, bronchiectasis, and

    • This question is part of the following fields:

      • Paediatrics
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  • Question 17 - A 3-month-old infant is presented to the emergency department with abdominal distension and...

    Correct

    • A 3-month-old infant is presented to the emergency department with abdominal distension and tenderness. The parents report observing a small amount of blood in the diaper and some bilious vomit. They have also noticed reduced movement and difficulty feeding over the past few days. The infant was born prematurely at 29 weeks after premature rupture of membranes. What investigation is most likely to provide a diagnosis?

      Your Answer: Abdominal x-ray

      Explanation:

      The definitive test for diagnosing necrotising enterocolitis is an abdominal x-ray. If the x-ray shows pneumatosis intestinalis (gas in the gut wall), it confirms the presence of NEC. Treatment involves stopping oral feeds, providing barrier nursing, and administering antibiotics such as cefotaxime and vancomycin. In severe cases, a laparotomy may be necessary, but this is a poor prognostic indicator and is not performed for diagnostic purposes. While a stool culture is often performed in cases of NEC, it is not a definitive test. It is important not to confuse NEC with intussusception, which typically affects older children (5-12 months) and presents with a distended abdomen and the passage of red currant jelly stool. In such cases, an ultrasound scan is usually the initial investigation and will show a target sign. A digital rectal exam is not a diagnostic test and only confirms the presence of feces in the rectum.

      Understanding Necrotising Enterocolitis

      Necrotising enterocolitis is a serious condition that is responsible for a significant number of premature infant deaths. The condition is characterized by symptoms such as feeding intolerance, abdominal distension, and bloody stools. If left untreated, these symptoms can quickly progress to more severe symptoms such as abdominal discolouration, perforation, and peritonitis.

      To diagnose necrotising enterocolitis, doctors often use abdominal x-rays. These x-rays can reveal a number of important indicators of the condition, including dilated bowel loops, bowel wall oedema, and intramural gas. Other signs that may be visible on an x-ray include portal venous gas, pneumoperitoneum resulting from perforation, and air both inside and outside of the bowel wall. In some cases, an x-ray may also reveal air outlining the falciform ligament, which is known as the football sign.

      Overall, understanding the symptoms and diagnostic indicators of necrotising enterocolitis is crucial for early detection and treatment of this serious condition. By working closely with healthcare professionals and following recommended screening protocols, parents and caregivers can help ensure the best possible outcomes for premature infants at risk for this condition.

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      • Paediatrics
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  • Question 18 - A 3-year-old child is brought to the paediatric emergency department with symptoms of...

    Correct

    • A 3-year-old child is brought to the paediatric emergency department with symptoms of malaise, rash, vomiting and fever. The mother reports that the child has not been eating well for the past day and has been running a low-grade temperature. Additionally, the mother points out a partial thickness burn on the child's arm that has been treated with dressings by their GP. What is the probable diagnosis?

      Your Answer: Toxic shock syndrome

      Explanation:

      Differential diagnosis for an unwell child with an unhealed burn

      When a child with an unhealed burn appears acutely unwell, several life-threatening conditions must be considered and ruled out promptly. Among them, toxic shock syndrome and meningococcal septicaemia are particularly concerning and require urgent management in the intensive care unit. Anaphylaxis, although a rare possibility, should also be considered and treated promptly with intramuscular adrenaline. Haemophilus influenzae and Salmonella are less likely causes, as they typically present with respiratory or gastrointestinal symptoms, respectively, which are not evident in this case. A thorough assessment and appropriate interventions are crucial to ensure the best possible outcome for the child.

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      • Paediatrics
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  • Question 19 - At what developmental stage would a child have the ability to briefly sit...

    Correct

    • At what developmental stage would a child have the ability to briefly sit while leaning forward on their hands, grasp a cube and transfer it from hand to hand, babble, but not yet wave goodbye or use their finger and thumb to grasp objects?

      Your Answer: 7 months

      Explanation:

      Developmental Milestones at 7 Months

      At 7 months, babies reach several developmental milestones. They are able to sit without support, which means they can sit up straight and maintain their balance without falling over. They also start to reach for objects with a sweeping motion, using their arms to grab things that catch their attention. Additionally, they begin to imitate speech sounds, such as babbling and making noises with their mouths.

      Half of babies at this age can combine syllables into wordlike sounds, which is an important step towards language development. They may start to say simple words like mama or dada and understand the meaning behind them. Finally, many babies begin to crawl or lunge forward, which is a major milestone in their physical development. Overall, 7 months is an exciting time for babies as they continue to grow and develop new skills.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 20 - A three-year-old child is admitted to the hospital with a high fever of...

    Correct

    • A three-year-old child is admitted to the hospital with a high fever of 39ºC that has persisted for the past five days. The parents are worried as they have noticed redness in the child's eyes, swelling in the neck, and a new rash.

      During the examination, the child is found to have a widespread maculopapular rash and bilateral conjunctivitis. Additionally, there is unilateral cervical lymphadenopathy, cracked and erythematosus lips, and a strawberry tongue.

      What is the initial treatment that should be given to this three-year-old child?

      Your Answer: Aspirin

      Explanation:

      Kawasaki disease is a systemic vasculitis that typically affects children under the age of 5. Symptoms include a fever lasting over 5 days, bilateral non-purulent conjunctivitis, a rash, mucosal erythema with a strawberry tongue, and unilateral cervical lymphadenopathy. In some cases, swelling of the hands and feet can occur, followed by desquamation in the second week. If left untreated, up to one-quarter of patients can develop coronary aneurysms. The main goal of treatment is to reduce the risk of cardiac complications. In the UK, the standard treatment is intravenous immunoglobulin and high dose aspirin, despite the fact that aspirin is usually contraindicated in children. Benzylpenicillin is not indicated in the treatment of Kawasaki disease. Conservative management is also not appropriate, as specific treatment is required to reduce inflammation and prevent the risk of coronary complications. Corticosteroids may be used as a second-line treatment if the patient does not respond to intravenous immunoglobulins.

      Understanding Kawasaki Disease

      Kawasaki disease is a rare type of vasculitis that primarily affects children. It is important to identify this disease early on as it can lead to serious complications, such as coronary artery aneurysms. The disease is characterized by a high-grade fever that lasts for more than five days and is resistant to antipyretics. Other symptoms include conjunctival injection, bright red, cracked lips, strawberry tongue, cervical lymphadenopathy, and red palms and soles that later peel.

      Diagnosis of Kawasaki disease is based on clinical presentation as there is no specific diagnostic test available. Management of the disease involves high-dose aspirin, which is one of the few indications for aspirin use in children. Intravenous immunoglobulin is also used as a treatment option. Echocardiogram is the initial screening test for coronary artery aneurysms, rather than angiography.

      Complications of Kawasaki disease can be serious, with coronary artery aneurysm being the most common. It is important to recognize the symptoms of Kawasaki disease early on and seek medical attention promptly to prevent potential complications.

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  • Question 21 - You assess a 6-year-old girl with cerebral palsy who is experiencing persistent spasticity...

    Correct

    • You assess a 6-year-old girl with cerebral palsy who is experiencing persistent spasticity in her legs resulting in contractures and pain. After discussing with her mother, you discover that she is receiving regular physiotherapy, utilizing appropriate orthoses, and has previously attempted oral diazepam. What treatment option could be presented to potentially enhance her symptoms?

      Your Answer: Baclofen

      Explanation:

      Understanding Cerebral Palsy

      Cerebral palsy is a condition that affects movement and posture due to damage to the motor pathways in the developing brain. It is the most common cause of major motor impairment and affects 2 in 1,000 live births. The causes of cerebral palsy can be antenatal, intrapartum, or postnatal. Antenatal causes include cerebral malformation and congenital infections such as rubella, toxoplasmosis, and CMV. Intrapartum causes include birth asphyxia or trauma, while postnatal causes include intraventricular hemorrhage, meningitis, and head trauma.

      Children with cerebral palsy may exhibit abnormal tone in early infancy, delayed motor milestones, abnormal gait, and feeding difficulties. They may also have associated non-motor problems such as learning difficulties, epilepsy, squints, and hearing impairment. Cerebral palsy can be classified into spastic, dyskinetic, ataxic, or mixed types.

      Managing cerebral palsy requires a multidisciplinary approach. Treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopedic surgery, and selective dorsal rhizotomy. Anticonvulsants and analgesia may also be required. Understanding cerebral palsy and its management is crucial in providing appropriate care and support for individuals with this condition.

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      • Paediatrics
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  • Question 22 - A mother brings her 12-year-old boy into the Emergency Department. She is concerned...

    Correct

    • A mother brings her 12-year-old boy into the Emergency Department. She is concerned as he has started to limp over the last few days and is in pain. There is no history of trauma; he has no temperature and is otherwise well. You notice he is overweight for his age.
      Which is the most likely diagnosis?

      Your Answer: Slipped femoral epiphysis

      Explanation:

      Pediatric Hip Conditions: Slipped Femoral Epiphysis, Perthes’ Disease, Septic Arthritis, and Juvenile Idiopathic Arthritis

      Hip conditions in children can present with a variety of symptoms and causes. One common condition is slipped femoral epiphysis, which typically affects boys aged 10-16 who are overweight. Symptoms include a painful limp, limited internal rotation, and displacement of the femoral head on X-ray. Treatment involves surgical fixation.

      Another condition is Perthes’ disease, which is avascular necrosis of the femoral head and typically affects younger children aged 4-10, more commonly in boys. Symptoms include an intermittent limp and limited joint movement. Treatment can be medical or surgical, but surgery may result in limb shortening and a permanent limp.

      Septic arthritis presents with an acutely painful, inflamed, and swollen joint, often with fever. It is more common in patients with underlying joint disease or a history of trauma. Musculoskeletal back pain is unlikely in this scenario.

      Juvenile idiopathic arthritis is an autoimmune inflammatory joint disease seen in children under 16. It presents with joint swelling, morning pain, limping, lethargy, reduced activity, and poor appetite, and is associated with anterior uveitis and spiking fevers. However, it is unlikely in this scenario due to the chronicity of symptoms and the child’s overall health.

      In conclusion, pediatric hip conditions can have various causes and symptoms, and proper diagnosis and treatment are crucial for optimal outcomes.

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      • Paediatrics
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  • Question 23 - Which statement accurately describes Factitious disorder imposed on another (FDIA)? ...

    Incorrect

    • Which statement accurately describes Factitious disorder imposed on another (FDIA)?

      Your Answer: The child's life is not usually in immediate danger

      Correct Answer: It is a cause of sudden infant death

      Explanation:

      Factitious Disorder Imposed on Another: A Dangerous Parenting Disorder

      Factitious disorder imposed on another (FDIA) is a serious parenting disorder that involves a parent, usually the mother, fabricating symptoms in their child. This leads to unnecessary medical tests and surgical procedures that can harm the child. In some extreme cases, the parent may even inflict injury or cause the death of their child.

      FDIA is a form of child abuse that can have devastating consequences for the child and their family. It is important for healthcare professionals to be aware of the signs and symptoms of FDIA and to report any suspicions to the appropriate authorities. Early intervention and treatment can help protect the child and prevent further harm.

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  • Question 24 - A 7-year-old boy is brought to his pediatrician by his father with a...

    Correct

    • A 7-year-old boy is brought to his pediatrician by his father with a 2-week history of cough. His father reports that he had a few days of cold symptoms about 3 weeks ago, just before the cough started. He says that his son coughs frequently, sometimes leading to vomiting, and has noticed a 'whooping' sound when he inhales after a coughing episode. All vital signs are normal.
      What is the recommended treatment for the probable diagnosis?

      Your Answer: Prescribe oral clarithromycin

      Explanation:

      If a patient presents with whooping cough within 21 days of the onset of cough, they should be prescribed either azithromycin or clarithromycin. In this case, the correct option is to prescribe oral clarithromycin. Hospital admission for IV antibiotics is not necessary as the patient is stable. If the patient had presented after three weeks, advice would be the appropriate course of action. Oral co-amoxiclav and oral doxycycline are not recommended treatments for whooping cough.

      Whooping Cough: Causes, Symptoms, Diagnosis, and Management

      Whooping cough, also known as pertussis, is a contagious disease caused by the bacterium Bordetella pertussis. It is commonly found in children, with around 1,000 cases reported annually in the UK. The disease is characterized by a persistent cough that can last up to 100 days, hence the name cough of 100 days.

      Infants are particularly vulnerable to whooping cough, which is why routine immunization is recommended at 2, 3, 4 months, and 3-5 years. However, neither infection nor immunization provides lifelong protection, and adolescents and adults may still develop the disease.

      Whooping cough has three phases: the catarrhal phase, the paroxysmal phase, and the convalescent phase. The catarrhal phase lasts around 1-2 weeks and presents symptoms similar to a viral upper respiratory tract infection. The paroxysmal phase is characterized by a severe cough that worsens at night and after feeding, and may be accompanied by vomiting and central cyanosis. The convalescent phase is when the cough subsides over weeks to months.

      To diagnose whooping cough, a person must have an acute cough that has lasted for 14 days or more without another apparent cause, and have one or more of the following features: paroxysmal cough, inspiratory whoop, post-tussive vomiting, or undiagnosed apnoeic attacks in young infants. A nasal swab culture for Bordetella pertussis is used to confirm the diagnosis, although PCR and serology are increasingly used.

      Infants under 6 months with suspected pertussis should be admitted, and in the UK, pertussis is a notifiable disease. An oral macrolide, such as clarithromycin, azithromycin, or erythromycin, is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread. Household contacts should be offered antibiotic prophylaxis, although antibiotic therapy has not been shown to alter the course of the illness. School exclusion is recommended for 48 hours after commencing antibiotics or 21 days from onset of symptoms if no antibiotics are given.

      Complications of whooping cough include subconjunctival haemorrhage, pneumonia, bronchiectasis, and

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      • Paediatrics
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  • Question 25 - At what age do children usually outgrow these episodes?

    A 2-year-old toddler is...

    Incorrect

    • At what age do children usually outgrow these episodes?

      A 2-year-old toddler is brought in by ambulance after experiencing a seizure-like episode witnessed by their parent. The parent recorded the episode on their phone, which lasted for 30 seconds, and showed it to the pediatric team. The child has no previous history of seizures and no known medical conditions. The parent reports that the child has had a cough and runny nose for the past 4 days and has been restless at night, requiring acetaminophen for a fever of 39.2ºC. In the emergency department, the child is irritable and coughing but does not have any further seizures. The pediatric team reassures the parent that this episode is not a cause for concern and advises them that the child should eventually outgrow them.

      Your Answer: 7 years old

      Correct Answer: 5 years old

      Explanation:

      Febrile convulsions are commonly observed in children aged between 6 months to 5 years. The symptoms include a flushed and hot appearance followed by loss of consciousness. Febrile convulsions are usually characterized by tonic-clonic seizure-like episodes and a postictal period. Parents should be informed that most children experience only one episode. However, in children over 1-year-old who have had their first febrile convulsion, there is a 33% chance of recurrence, which is higher in children under 1. Although most children experience their first febrile convulsion by the age of 3, it can continue up to 5 years, especially in those who have had previous episodes. Children over 5 years old are less likely to experience febrile convulsions. If a child aged 7, 9, or 11 years experiences convulsions, they should be referred for neurological testing as it may indicate epilepsy.

      Febrile convulsions are seizures caused by fever in children aged 6 months to 5 years. They typically last less than 5 minutes and are most commonly tonic-clonic. There are three types: simple, complex, and febrile status epilepticus. Children who have had a first seizure or any features of a complex seizure should be admitted to pediatrics. Regular antipyretics do not reduce the chance of a febrile seizure occurring. The overall risk of further febrile convulsion is 1 in 3, with risk factors including age of onset, fever duration, family history, and link to epilepsy. Children without risk factors have a 2.5% risk of developing epilepsy, while those with all three features have a much higher risk.

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      • Paediatrics
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  • Question 26 - A 5-year-old girl is brought in by ambulance after her parents awoke in...

    Incorrect

    • A 5-year-old girl is brought in by ambulance after her parents awoke in the middle of the night to a harsh coughing episode and noted she had difficulty breathing. She has been coryzal over the last 2 days but has never had any episodes like this before. The paramedics have given a salbutamol nebuliser, to some effect, but she continues to have very noisy breathing. Oxygen saturations are 94% on air, with a respiratory rate of 50.
      What is the most likely diagnosis?

      Your Answer: Viral-induced wheeze

      Correct Answer: Croup

      Explanation:

      Pediatric Respiratory Conditions: Croup and Acute Epiglottitis

      Croup is a common upper respiratory tract infection in children caused by the parainfluenza virus. It leads to laryngotracheobronchitis and upper airway obstruction, resulting in symptoms such as a barking cough, stridor, and difficulty breathing. Treatment involves a single dose of oral dexamethasone or inhaled budesonide, oxygen, and inhaled adrenaline in severe cases.

      Viral-induced wheeze and asthma are unlikely diagnoses in this case due to the lack of wheeze and minimal improvement with salbutamol. Inhalation of a foreign body is also unlikely given the absence of a history of playing with an object.

      Acute epiglottitis is a rare but serious condition that presents similarly to croup. It is caused by inflammation of the epiglottis, usually due to streptococci. Symptoms develop rapidly over a few hours and include difficulty swallowing, muffled voice, drooling, cervical lymphadenopathy, and fever. The tripod sign, where the child leans on outstretched arms to assist with breathing, is a characteristic feature.

      In conclusion, prompt recognition and appropriate management of pediatric respiratory conditions such as croup and acute epiglottitis are crucial to prevent complications and ensure optimal outcomes.

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      • Paediatrics
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  • Question 27 - You assist in the delivery of a newborn in the neonatal unit. At...

    Incorrect

    • You assist in the delivery of a newborn in the neonatal unit. At 5 minutes, the baby's heart rate is 120 bpm, the baby is crying vigorously with active movement in all extremities. The baby is coughing and sneezing. The body is pink but the hands and feet are slightly blue and cool to the touch. Determine the APGAR score.

      Your Answer: 8

      Correct Answer: 9

      Explanation:

      The Apgar score is a tool used to evaluate the health of a newborn baby. It is recommended by NICE to be assessed at 1 and 5 minutes after birth, and again at 10 minutes if the initial score is low. The score is based on five factors: pulse, respiratory effort, color, muscle tone, and reflex irritability. A score of 0-3 is considered very low, 4-6 is moderate low, and 7-10 indicates that the baby is in good health. The score helps healthcare professionals quickly identify any potential issues and provide appropriate care.

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      • Paediatrics
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  • Question 28 - A 41-year-old female with a history of Leber's optic atrophy visits her doctor....

    Incorrect

    • A 41-year-old female with a history of Leber's optic atrophy visits her doctor. She and her husband are planning to have children and she wants to know the likelihood of passing on her condition. She vaguely remembers her geneticist mentioning something about mitochondria but can't recall the specifics of the inheritance pattern. Assuming her husband does not carry the same gene defect, what is the chance that their child will inherit the condition?

      Your Answer: 50%

      Correct Answer: 0%

      Explanation:

      Mitochondrial disorders encompass a range of conditions, such as leigh syndrome, mitochondrial diabetes, MELAS syndrome, and MERFF syndrome.

      Mitochondrial Diseases: Inheritance and Histology

      Mitochondrial diseases are caused by mutations in the small amount of double-stranded DNA present in the mitochondria. This DNA encodes protein components of the respiratory chain and some special types of RNA. Mitochondrial inheritance has unique characteristics, including inheritance only via the maternal line and none of the children of an affected male inheriting the disease. However, all of the children of an affected female will inherit the disease. These diseases generally encode rare neurological diseases and have a poor genotype-phenotype correlation due to heteroplasmy, where different mitochondrial populations exist within a tissue or cell.

      Histologically, muscle biopsy shows red, ragged fibers due to an increased number of mitochondria. Some examples of mitochondrial diseases include Leber’s optic atrophy, MELAS syndrome (mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes), MERRF syndrome (myoclonus epilepsy with ragged-red fibers), Kearns-Sayre syndrome (onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa, and ptosis may be seen), and sensorineural hearing loss.

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      • Paediatrics
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  • Question 29 - A 6-month-old girl with poor weight gain is brought to see the pediatrician....

    Incorrect

    • A 6-month-old girl with poor weight gain is brought to see the pediatrician. Her growth has slowed crossing 1 centile but her weight has fallen from 50th to 9th centile in the last two months.
      She began weaning at 4 months with a variety of foods. Her mother says she eats well and has no other specific symptoms. On examination she appears emaciated with abdominal distension. She is rolling over and making appropriate cooing sounds.
      What is the probable diagnosis?

      Your Answer: Cystic fibrosis

      Correct Answer: Gluten-sensitive enteropathy

      Explanation:

      Coeliac Disease and Failure to Thrive in Children

      Coeliac disease is a condition that usually appears after weaning and is characterized by gastrointestinal symptoms and weight loss. In children, failure to thrive may be a sign of coeliac disease, especially if they eat well and have been weaned at an appropriate age. Abdominal distension, vomiting, diarrhoea, and weight loss are the most common symptoms of coeliac disease, but it can also present with muscle wasting, anaemia, and vitamin deficiencies.

      Cystic fibrosis is another condition that can cause failure to thrive, but it typically presents with a history of respiratory infections or meconium ileus in childhood. If tests for coeliac disease are negative, cystic fibrosis may be considered. Cushing’s syndrome can cause central adiposity with muscle wasting, but it is not the same as abdominal distension. Hyperthyroidism is extremely rare during infancy, and lactose intolerance presents with marked vomiting and diarrhoea, which is not consistent with the timing of weaning seen in coeliac disease.

      In summary, failure to thrive in children may be a sign of coeliac disease, especially if they have been weaned at an appropriate age and are eating well. Other conditions, such as cystic fibrosis, Cushing’s syndrome, hyperthyroidism, and lactose intolerance, should also be considered and ruled out through appropriate testing.

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      • Paediatrics
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  • Question 30 - As a FY1 in the emergency department, you encounter a mother and her...

    Correct

    • As a FY1 in the emergency department, you encounter a mother and her 5-year-old child who is complaining of a rapidly worsening sore throat, high fever, and excessive drooling from the sides of their mouth. The mother admits that the child has missed some vaccinations due to concerns about their negative effects, but is unsure which ones were omitted. Upon examination, the child is sitting on the examination couch, leaning forward and refusing to move. They are pyrexial (38.1C) with overt drooling from the sides of their mouth, and emitting a soft, high-pitched sound on inspiration. What is the most likely causative agent responsible for this child's condition?

      Your Answer: Haemophilus influenzae type B

      Explanation:

      Haemophilus influenzae type B is the primary cause of acute epiglottitis, which is evident in this child’s classic symptoms. It is possible that the child has not received the vaccine for this bacteria, making it a more likely culprit. While Streptococcus pyogenes and other pathogens can also cause this condition, they are less common.

      Acute epiglottitis is a rare but serious infection caused by Haemophilus influenzae type B. It is important to recognize and treat it promptly as it can lead to airway obstruction. Although it was once considered a disease of childhood, it is now more common in adults in the UK due to the immunization program. The incidence of epiglottitis has decreased since the introduction of the Hib vaccine. Symptoms include a rapid onset, high temperature, stridor, drooling of saliva, and a tripod position where the patient leans forward and extends their neck to breathe easier. Diagnosis is made by direct visualization, but x-rays may be done to rule out a foreign body.

      Immediate senior involvement is necessary, including those who can provide emergency airway support such as anaesthetics or ENT. Endotracheal intubation may be necessary to protect the airway. It is important not to examine the throat if epiglottitis is suspected due to the risk of acute airway obstruction. The diagnosis is made by direct visualization, but only senior staff who are able to intubate if necessary should perform this. Treatment includes oxygen and intravenous antibiotics.

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      • Paediatrics
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SESSION STATS - PERFORMANCE PER SPECIALTY

Paediatrics (19/30) 63%
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