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  • Question 1 - A 14-year-old boy comes to the GP complaining of gradual onset right groin...

    Correct

    • A 14-year-old boy comes to the GP complaining of gradual onset right groin pain and a limp. He has no significant medical or family history. During the examination, the right leg appears shortened and externally rotated, with limited range of motion. No joint swelling or warmth is detected. The patient's vital signs are normal, and he is in the 50th percentile for height and 90th percentile for weight. What is the most suitable initial investigation to perform?

      Your Answer: Plain X-ray of both hips (AP and frog-leg views)

      Explanation:

      To diagnose SUFE, X-rays are the preferred imaging method. It is important to image both hips, even if there are no symptoms, to rule out involvement of the other hip. MRI is not typically used as a first-line investigation, but may be considered if there is still suspicion of SUFE despite normal X-rays. While CT is sensitive for SUFE, it is not typically used as a first-line investigation in children due to the radiation exposure.

      Slipped Capital Femoral Epiphysis: A Rare Hip Condition in Children

      Slipped capital femoral epiphysis, also known as slipped upper femoral epiphysis, is a rare hip condition that primarily affects children between the ages of 10 and 15. It is more commonly seen in obese boys. This condition is characterized by the displacement of the femoral head epiphysis postero-inferiorly, which may present acutely following trauma or with chronic, persistent symptoms.

      The most common symptoms of slipped capital femoral epiphysis include hip, groin, medial thigh, or knee pain and loss of internal rotation of the leg in flexion. In some cases, a bilateral slip may occur. Diagnostic imaging, such as AP and lateral (typically frog-leg) views, can confirm the diagnosis.

      The management of slipped capital femoral epiphysis typically involves internal fixation, which involves placing a single cannulated screw in the center of the epiphysis. However, if left untreated, this condition can lead to complications such as osteoarthritis, avascular necrosis of the femoral head, chondrolysis, and leg length discrepancy.

      In summary, slipped capital femoral epiphysis is a rare hip condition that primarily affects children, especially obese boys. It is characterized by the displacement of the femoral head epiphysis postero-inferiorly and can present with various symptoms. Early diagnosis and management are crucial to prevent complications.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 2 - A 7-year-old boy presents to his GP with recurrent head lice. The GP...

    Correct

    • A 7-year-old boy presents to his GP with recurrent head lice. The GP notices that the child has had several attendances to the Emergency Department with asthma exacerbations, but has not attended an asthma review for several years and his inhalers have not been ordered for several months.
      When would a social services referral be indicated in the first instance?

      Your Answer: If you suspect a child is being maltreated or you feel the family could benefit from some extra support

      Explanation:

      When to Make a Referral to Social Services for Child Protection

      As a healthcare professional, it is important to know when to make a referral to social services for child protection. Here are some situations that require immediate action:

      1. Suspected maltreatment or need for extra support: If you suspect a child is being maltreated or you feel the family could benefit from some extra support, a referral must be made urgently to social services. Follow up within 48 hours with written confirmation.

      2. Immediate danger: If you feel a child needs to be removed from premises immediately for their safety, inform the police immediately. Once the child is considered to be in a place of safety, social services will be informed.

      3. Recent sexual assault: If the child has disclosed a recent sexual assault, they would need to be referred urgently for forensic examination. Following this, social services will be likely to be informed.

      4. Discussion with safeguarding lead: If you feel confident in your judgement, you do not have to seek advice from the safeguarding lead before every referral. If you suspect a child is at risk of harm, it is your responsibility to take action to ensure the child’s safety.

      5. Consent of parent and/or patient: Always try to gain consent from the parent or patient before making a referral to social services. If consent is refused, the referral can still be made, but it is important that the patient/parent is fully informed of your actions.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 3 - A full-term female neonate has bilateral palpable flank masses and oliguria and is...

    Correct

    • A full-term female neonate has bilateral palpable flank masses and oliguria and is in respiratory distress. The mother had little prenatal care, but a third-trimester ultrasound right before delivery showed severe oligohydramnios. An ultrasound of the neonate now shows multiple renal cysts and hepatic fibrosis.
      What is the most likely cause of these findings?

      Your Answer: Autosomal recessive polycystic kidney disease

      Explanation:

      Neonatal Renal Conditions: A Comparison

      Two common neonatal renal conditions are autosomal recessive polycystic kidney disease (ARPKD) and renal agenesis. ARPKD is characterized by the replacement of renal parenchyma with cysts, leading to renal failure and hepatic fibrosis. This condition typically presents in the neonatal period and can cause death perinatally or within the first year of life. In utero, ARPKD can cause oligohydramnios and pulmonary hypoplasia. On the other hand, renal agenesis is lethal in utero and is characterized by the absence of one or both kidneys.

      Autosomal dominant polycystic kidney disease (ADPKD) is another renal condition that manifests later in life, typically between the ages of 15-30. It is caused by a mutation in ADPKD1 or ADPKD2 and is inherited in an autosomal dominant pattern. ADPKD is characterized by renal failure and hypertension, as well as other associated findings such as liver cysts, berry aneurysms of the circle of Willis in the brain, and mitral valve prolapse.

      Potter syndrome refers to oligohydramnios and resultant pulmonary hypoplasia seen with in-utero renal failure. This condition is a result of an underlying diagnosis, such as ARPKD.

      Nephroblastoma is a rare condition that can present as a palpable flank mass in infants, but it is very uncommon in neonates. Renal ultrasound would show a solid mass, rather than multiple cysts.

      In summary, neonatal renal conditions can present with various symptoms and have different underlying causes. It is important to accurately diagnose and manage these conditions to prevent further complications and improve outcomes.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 4 - You are requested to assess a 38-week-gestation boy in the postnatal ward who...

    Incorrect

    • You are requested to assess a 38-week-gestation boy in the postnatal ward who is now 36-hours-old. The baby was delivered via forceps and has noticeable facial bruising. He is being formula-fed and is progressing well in the postnatal period except for an elevated transcutaneous bilirubin measurement. What could be the probable reason for the raised bilirubin level in this newborn?

      Your Answer: Infection

      Correct Answer: Bruising

      Explanation:

      Elevated bilirubin levels can result from bruising during birth, which causes hemolysis. Bruising in the neonatal stage can also lead to increased bilirubin levels due to the breakdown of haemoglobin. Preterm babies and those who are breastfed are more likely to develop jaundice. The baby’s medical history and examination do not indicate any signs of infection. Jaundice is not associated with being male.

      Jaundice in newborns can occur within the first 24 hours of life and is always considered pathological. The causes of jaundice during this period include rhesus and ABO haemolytic diseases, hereditary spherocytosis, and glucose-6-phosphodehydrogenase deficiency. On the other hand, jaundice in neonates from 2-14 days is common and usually physiological, affecting up to 40% of babies. This type of jaundice is due to a combination of factors such as more red blood cells, fragile red blood cells, and less developed liver function. Breastfed babies are more likely to develop this type of jaundice.

      If jaundice persists after 14 days (21 days for premature babies), a prolonged jaundice screen is performed. This includes tests for conjugated and unconjugated bilirubin, direct antiglobulin test, thyroid function tests, full blood count and blood film, urine for MC&S and reducing sugars, and urea and electrolytes. Prolonged jaundice can be caused by biliary atresia, hypothyroidism, galactosaemia, urinary tract infection, breast milk jaundice, prematurity, and congenital infections such as CMV and toxoplasmosis. Breast milk jaundice is more common in breastfed babies and is thought to be due to high concentrations of beta-glucuronidase, which increases the intestinal absorption of unconjugated bilirubin. Prematurity also increases the risk of kernicterus.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 5 - A 5-year-old boy is seen in an acute paediatric clinic due to unexplained...

    Correct

    • A 5-year-old boy is seen in an acute paediatric clinic due to unexplained bruising and hepatosplenomegaly on examination. He has a past medical history of Down's syndrome and was placed in foster care immediately after birth. His birth mother, who was 45 years old at delivery, smoked during pregnancy and has a history of osteosarcoma. After further investigations, including a full blood count and bone marrow aspirate, the diagnosis of acute lymphocytic leukaemia is suspected. What is the most significant risk factor associated with this condition?

      Your Answer: History of Down's syndrome

      Explanation:

      Children with Down syndrome are at a higher risk of developing acute lymphoblastic leukaemia due to the loss of a gene that inhibits lymphocyte proliferation known as PCR2. This risk is over 30 times higher than in children without Down syndrome. Additionally, children with Down syndrome are over 100 times more likely to develop acute myeloid leukaemia. Family history of malignancy, maternal age, and female sex are not significant risk factors for the development of ALL.

      Down’s syndrome is a genetic disorder that is characterized by various clinical features. These features include an upslanting of the palpebral fissures, epicanthic folds, Brushfield spots in the iris, a protruding tongue, small low-set ears, and a round or flat face. Additionally, individuals with Down’s syndrome may have a flat occiput, a single palmar crease, and a pronounced sandal gap between their big and first toe. Hypotonia, congenital heart defects, duodenal atresia, and Hirschsprung’s disease are also common in individuals with Down’s syndrome.

      Cardiac complications are also prevalent in individuals with Down’s syndrome, with multiple cardiac problems potentially present. The most common cardiac defect is the endocardial cushion defect, also known as atrioventricular septal canal defects, which affects 40% of individuals with Down’s syndrome. Other cardiac defects include ventricular septal defect, secundum atrial septal defect, tetralogy of Fallot, and isolated patent ductus arteriosus.

      Later complications of Down’s syndrome include subfertility, learning difficulties, short stature, repeated respiratory infections, hearing impairment from glue ear, acute lymphoblastic leukaemia, hypothyroidism, Alzheimer’s disease, and atlantoaxial instability. Males with Down’s syndrome are almost always infertile due to impaired spermatogenesis, while females are usually subfertile and have an increased incidence of problems with pregnancy and labour.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 6 - A 2-year-old toddler is brought to the GP by concerned parents who have...

    Incorrect

    • A 2-year-old toddler is brought to the GP by concerned parents who have noticed swelling of the foreskin during urination and inability to retract it. What is the most appropriate initial approach to manage this condition?

      Your Answer: Referral to paediatric surgeons

      Correct Answer: Reassure parents and review in 6-months

      Explanation:

      Forcible retraction should be avoided in younger children with phimosis, as it can lead to scar formation. It is important to note that phimosis is normal in children under the age of 2 and typically resolves on its own over time. Therefore, there is no urgent need for referral to paediatrics or paediatric surgeons. While lubricant is not helpful in managing phimosis, topical steroids have been found to be beneficial.

      Phimosis in Children: When to Seek Treatment

      Phimosis is a condition where the foreskin of the penis cannot be retracted. In children under two years old, this may be a normal physiological process that will resolve on its own. The British Association of Paediatric Urologists recommends an expectant approach in such cases, as forcible retraction can lead to scarring. However, personal hygiene is important to prevent infections. If the child is over two years old and experiences recurrent balanoposthitis or urinary tract infections, treatment can be considered.

      It is important to note that parents should not attempt to forcibly retract the foreskin in young children. This can cause pain and scarring, and may not even be necessary. Instead, parents should focus on teaching their child good hygiene habits to prevent infections. If the child is experiencing recurrent infections or other symptoms, it may be time to seek medical treatment. By following these guidelines, parents can help their child manage phimosis and maintain good health.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 7 - You have just assisted with the normal vaginal delivery of a baby boy,...

    Correct

    • You have just assisted with the normal vaginal delivery of a baby boy, during the delivery there was a large amount of meconium. On observation of the baby just after the birth, what signs would indicate the need for the neonatal team to evaluate the baby?

      Your Answer: Respiratory rate 75/minute

      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.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 8 - A 4-year-old child is brought to your office by their mother, complaining of...

    Correct

    • A 4-year-old child is brought to your office by their mother, complaining of diarrhoea that has been ongoing for a few months. The mother reports that the diarrhoea does not have a foul smell but sometimes contains undigested food. The child does not experience any abdominal pain or bloating. Upon measuring their height and weight, it is found to be appropriate for their age. What is the most probable diagnosis?

      Your Answer: Toddler's diarrhoea

      Explanation:

      Toddler’s diarrhoea is a harmless condition that does not cause any issues for the child. It occurs due to the rapid movement of food through their digestive system and may contain undigested food particles. No treatment is necessary. However, it is advisable to monitor the child’s growth by tracking their height and weight to rule out any serious underlying conditions such as coeliac disease, which may cause the child to drop centiles on the growth chart. Gastroenteritis is unlikely to persist for several months, and it is probable that other members of the household would also be affected.

      Understanding Diarrhoea in Children

      Diarrhoea is a common condition in children that can be caused by various factors. One of the most common causes is gastroenteritis, which is often accompanied by fever and vomiting for the first two days. The main risk associated with this condition is severe dehydration, which can be life-threatening if left untreated. The most common cause of gastroenteritis is rotavirus, and the diarrhoea may last up to a week. The treatment for this condition is rehydration.

      Chronic diarrhoea is another type of diarrhoea that can affect infants and toddlers. In the developed world, the most common cause of chronic diarrhoea in infants is cow’s’ milk intolerance. Toddler diarrhoea, on the other hand, is characterized by stools that vary in consistency and often contain undigested food. Other causes of chronic diarrhoea in children include coeliac disease and post-gastroenteritis lactose intolerance.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 9 - A 5-month-old baby presents with symptoms of shortness of breath and difficulty taking...

    Correct

    • A 5-month-old baby presents with symptoms of shortness of breath and difficulty taking feeds. During examination, a systolic murmur is heard at the left lower sternal edge, and a thrill is felt in the pulmonary area. A rough ejection systolic murmur is best heard in the same area. An ECG shows right ventricular hypertrophy with right axis deviation, and the liver is palpable. The baby's oxygen saturation intermittently drops to 88%, causing cyanotic spells. What is the most probable diagnosis?

      Your Answer: Tetralogy of Fallot

      Explanation:

      Understanding Congenital Heart Disorders: Tetralogy of Fallot and Other Conditions

      Congenital heart disorders are conditions that affect the heart’s structure and function from birth. One such disorder is Tetralogy of Fallot, which is characterized by several abnormalities, including right ventricular hypertrophy, pulmonary stenosis, VSD, and an overriding aorta. Symptoms usually appear at birth or within the first year of life and are caused by a right-to-left shunt, leading to systemic hypoxemia.

      Cyanotic spells are common in Tetralogy of Fallot and can cause marked desaturation due to a decrease in systemic vascular resistance or an increase in pulmonary resistance. In some cases, a left-to-right shunt may initially be present, leading to pulmonary hypertension and eventually causing a right-to-left shunt and heart failure.

      Other congenital heart disorders include VSD, which may not manifest until childhood or adulthood, transposition of the great vessels, which presents at birth with severe hypoxemia, ASD, which may not manifest until later in life, and coarctation of the aorta, which typically does not present until later in life unless extremely severe.

      Understanding these congenital heart disorders and their symptoms is crucial for early diagnosis and treatment, which can improve outcomes and quality of life for affected individuals.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 10 - A newborn is delivered via elective Caesarean section at 37 weeks due to...

    Correct

    • A newborn is delivered via elective Caesarean section at 37 weeks due to pregnancy-induced hypertension. At two hours of age, the male infant is exhibiting mild intercostal recession and grunting. Oxygen saturations are 95-96% on room air. What is the probable reason for the respiratory distress?

      Your Answer: Transient tachypnoea of the newborn

      Explanation:

      Understanding Transient Tachypnoea of the Newborn

      Transient tachypnoea of the newborn (TTN) is a common respiratory condition that affects newborns. It is caused by the delayed resorption of fluid in the lungs, which can lead to breathing difficulties. TTN is more common in babies born via caesarean section, as the fluid in their lungs may not be squeezed out during the birth process. A chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.

      The management of TTN involves observation and supportive care. In some cases, supplementary oxygen may be required to maintain oxygen saturation levels. However, TTN usually resolves within 1-2 days. It is important for healthcare professionals to monitor newborns with TTN closely and provide appropriate care to ensure a full recovery. By understanding TTN and its management, healthcare professionals can provide the best possible care for newborns with this condition.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 11 - An infant is admitted to the neonatal intensive care unit with low Apgar...

    Correct

    • An infant is admitted to the neonatal intensive care unit with low Apgar scores at birth. During examination, the infant is found to have micrognathia, low set ears, overlapping fingers, and rocker-bottom feet. What is the most probable diagnosis?

      Your Answer: Edward's syndrome

      Explanation:

      A neonate is born exhibiting micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers, which are all classic signs of Edward’s syndrome. This childhood genetic syndrome is often diagnosed prenatally, but in some cases, it may not be detected until after birth when the neonate presents with low apgar scores. Unfortunately, the mortality rate for those with Edward’s syndrome is very high, and the average life expectancy is only 5-12 days. Survivors of this syndrome often experience complications affecting multiple organs. It is important to note that many genetic syndromes share similar features, making clinical diagnosis challenging without genetic testing. As such, it is essential to be familiar with the most common features of each syndrome for final medical examinations.

      Childhood syndromes are a group of medical conditions that affect children and are characterized by a set of common features. Patau syndrome, also known as trisomy 13, is a syndrome that is characterized by microcephaly, small eyes, cleft lip/palate, polydactyly, and scalp lesions. Edward’s syndrome, also known as trisomy 18, is characterized by micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers. Fragile X syndrome is characterized by learning difficulties, macrocephaly, long face, large ears, and macro-orchidism. Noonan syndrome is characterized by a webbed neck, pectus excavatum, short stature, and pulmonary stenosis. Pierre-Robin syndrome is characterized by micrognathia, posterior displacement of the tongue, and cleft palate. Prader-Willi syndrome is characterized by hypotonia, hypogonadism, and obesity. William’s syndrome is characterized by short stature, learning difficulties, friendly, extrovert personality, and transient neonatal hypercalcaemia. Cri du chat syndrome, also known as chromosome 5p deletion syndrome, is characterized by a characteristic cry, feeding difficulties and poor weight gain, learning difficulties, microcephaly and micrognathism, and hypertelorism. It is important to note that Treacher-Collins syndrome is similar to Pierre-Robin syndrome, but it is autosomal dominant and usually has a family history of similar problems.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 12 - A 12-year-old girl comes to the emergency department with a headache. During the...

    Correct

    • A 12-year-old girl comes to the emergency department with a headache. During the examination, she mentions that the lights are bothering her eyes and the doctor observes a purpuric rash on her chest. Her respiratory rate is 22/min, heart rate is 140/min, and blood pressure is 80/60 mmHg. Which of the following tests should be avoided in this patient?

      Your Answer: Lumbar puncture

      Explanation:

      Performing a lumbar puncture is not recommended for patients with meningococcal septicaemia, which is a contraindication. In cases of suspected meningitis and sepsis, a coagulation screen and blood glucose may be ordered in secondary care, while blood cultures and serum lactate are typically included in the sepsis 6 protocol.

      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 13 - A 13-year-old girl comes in with a swollen left knee. Her parents mention...

    Incorrect

    • A 13-year-old girl comes in with a swollen left knee. Her parents mention that she has haemophilia and has received treatment for a haemarthrosis on her right side before. What is the most probable additional condition she may have?

      Your Answer: Hunter's syndrome

      Correct Answer: Turner's syndrome

      Explanation:

      Since Haemophilia is a disorder that is recessive and linked to the X chromosome, it is typically only found in males. However, individuals with Turner’s syndrome, who only have one X chromosome, may be susceptible to X-linked recessive disorders.

      Understanding X-Linked Recessive Inheritance

      X-linked recessive inheritance is a genetic pattern where only males are affected, except in rare cases such as Turner’s syndrome. This type of inheritance is transmitted by heterozygote females, who are carriers of the gene mutation. Male-to-male transmission is not observed in X-linked recessive disorders. Affected males can only have unaffected sons and carrier daughters.

      If a female carrier has children, each male child has a 50% chance of being affected, while each female child has a 50% chance of being a carrier. It is important to note that the possibility of an affected father having children with a heterozygous female carrier is generally rare. However, in some Afro-Caribbean communities, G6PD deficiency is relatively common, and homozygous females with clinical manifestations of the enzyme defect are observed.

      In summary, X-linked recessive inheritance is a genetic pattern that affects only males and is transmitted by female carriers. Understanding this pattern is crucial in predicting the likelihood of passing on genetic disorders to future generations.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 14 - A six-year-old boy is brought to the doctor by his mother due to...

    Correct

    • A six-year-old boy is brought to the doctor by his mother due to some unusual nighttime activity. For the past year, he has been making grunting and gurgling sounds while asleep. Upon entering the room, the doctor notices that the boy's eyes are wide open, and his mouth is pulled to one side with excessive drooling onto the pillow. The mother is concerned because the boy was found shaking on the floor last night, which lasted for about 30 seconds. After the episode, he was weak and confused for hours. The boy's older brother has been diagnosed with epilepsy. What is the most probable diagnosis?

      Your Answer: Benign rolandic epilepsy

      Explanation:

      Benign rolandic epilepsy is a type of epilepsy that usually affects children between the ages of 4 and 12 years. This condition is characterized by seizures that typically occur at night and are often partial, causing sensations in the face. However, these seizures may also progress to involve the entire body. Despite these symptoms, children with benign rolandic epilepsy are otherwise healthy and normal.

      Diagnosis of benign rolandic epilepsy is typically confirmed through an electroencephalogram (EEG), which shows characteristic centrotemporal spikes. Fortunately, the prognosis for this condition is excellent, with seizures typically ceasing by adolescence. While the symptoms of benign rolandic epilepsy can be concerning for parents and caregivers, it is important to remember that this condition is generally not associated with any long-term complications or developmental delays.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 15 - You are requested to assess a neonate who is 2 hours old in...

    Correct

    • You are requested to assess a neonate who is 2 hours old in the delivery suite. The baby was delivered through an elective Caesarean section. The mother's antenatal history reveals gestational diabetes. During a heel prick test, the baby's blood glucose level was found to be 2.2 mmol/L. What should be the subsequent course of action in managing the baby?

      Your Answer: Observe and encourage early feeding

      Explanation:

      It is typical for newborns to experience temporary hypoglycaemia during the first few hours after birth. However, infants born to mothers with diabetes (whether gestational or pre-existing) are at a higher risk of developing this condition. This is due to the fact that high blood sugar levels in the mother during labour can trigger the release of insulin in the foetus, and once born, the baby no longer has a constant supply of glucose from the mother.

      Fortunately, in most cases, transient hypoglycaemia does not require any medical intervention and is closely monitored. It is recommended that mothers feed their newborns early and at regular intervals. For babies born to diabetic mothers, a hypoglycaemia protocol will be initiated and discontinued once the infant has at least three blood glucose readings above 2.5 mmol/L and is feeding appropriately.

      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 16 - A 16-year-old girl visits her GP complaining of bilateral knee pain that has...

    Correct

    • A 16-year-old girl visits her GP complaining of bilateral knee pain that has been bothering her for the past 2 months, particularly in the mornings. She has also been feeling generally fatigued, but denies experiencing any fevers, weight loss, or rashes. Her mother has a history of systemic lupus erythematosus (SLE), but otherwise, her family history is unremarkable. Upon examination, the patient's vital signs are within normal limits. There is mild oedema in both knees and ankles, and passive movement of the knee joints elicits tenderness. What is the most likely diagnosis?

      Your Answer: Oligoarticular juvenile idiopathic arthritis

      Explanation:

      The most common presentation of juvenile idiopathic arthritis (JIA) is oligoarticular (or pauciarticular) JIA, which typically affects up to four joints and is mild. The affected joints are usually larger ones like the knee, ankle, or elbow, and common symptoms include pain, stiffness, and fatigue. Other symptoms may include rash, fever, or dry/gritty eyes. Having a family history of autoimmune disease, such as systemic lupus erythematosus, increases the risk of developing JIA.

      Ewing sarcoma is a primary bone cancer that usually affects long bones and causes localized pain and swelling. It is unlikely to present symmetrically and typically affects only one side of the body.

      Osgood-Schlatter disease is an inflammation of the growth plate at the tibial tubercle, which is caused by traction from the quadriceps. It usually occurs in adolescents who are involved in sports/athletics and can affect both tibias, although it typically presents on only one side. The pain is worse during exercise and is not associated with knee effusions.

      Systemic lupus erythematosus (SLE) is a chronic disorder that affects multiple systems and often includes arthritis or arthralgia. However, in this case, the absence of other systemic symptoms or rash suggests that the primary issue is arthritis, despite the family history.

      Understanding Pauciarticular Juvenile Idiopathic Arthritis

      Pauciarticular Juvenile Idiopathic Arthritis (JIA) is a type of arthritis that affects children under the age of 16 and lasts for more than six weeks. It is characterized by joint pain and swelling, typically in medium-sized joints such as the knees, ankles, and elbows. This type of JIA is called pauciarticular because it affects four or fewer joints. It is the most common type of JIA, accounting for approximately 60% of cases.

      In addition to joint pain and swelling, children with pauciarticular JIA may experience a limp. It is also possible for the antinuclear antibody (ANA) test to be positive in cases of JIA, which is associated with anterior uveitis. It is important for parents and caregivers to be aware of the symptoms of pauciarticular JIA and seek medical attention if they suspect their child may be affected. Early diagnosis and treatment can help manage symptoms and prevent long-term joint damage.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 17 - A 68-year-old man of African descent with a family history of cancer presented...

    Incorrect

    • A 68-year-old man of African descent with a family history of cancer presented with an elevated PSA level of 23 ng/ml and was diagnosed with adenocarcinoma with a Gleason score of 7. Magnetic resonance imaging revealed abnormal signals on both sides of the prostate, and a bone scan showed two bone metastatic lesions. The clinical stage was T2 N0 M1b, and he received surgical and hormonal treatment. Genetic testing was performed to determine the most likely mutation he has.

      What mutation is he most likely to have?

      Your Answer:

      Correct Answer: BRCA mutation

      Explanation:

      Men who carry BRCA mutations are at a higher risk of developing prostate cancer, particularly those with the BRCA2 gene which is associated with a more aggressive form of the disease. BRCA1 and BRCA2 are tumor suppressor genes that are inherited in an autosomal dominant manner with incomplete penetrance. On the other hand, APC mutation is not a major contributor to the development of clinical prostate cancer, as it is primarily responsible for colorectal tumors, often accompanied by ras and p53 mutations. BRAF mutation is an incorrect answer, as it is rare in both early and late-stage prostate cancer, but is found in approximately 50% of melanomas.

      Understanding Tumour Suppressor Genes

      Tumour suppressor genes are responsible for controlling the cell cycle and preventing the development of cancer. When these genes lose their function, the risk of cancer increases. However, it is important to note that both alleles of the gene must be mutated before cancer can occur.

      There are several examples of tumour suppressor genes, including p53, APC, BRCA1 & BRCA2, NF1, Rb, WT1, and MTS-1 (p16). These genes are associated with various types of cancer, such as colorectal cancer, breast and ovarian cancer, neurofibromatosis, retinoblastoma, Wilm’s tumour, and melanoma.

      It is crucial to understand the role of tumour suppressor genes in preventing cancer and the consequences of their loss of function. In contrast to oncogenes, which result in an increased risk of cancer due to a gain of function, tumour suppressor genes must be both mutated before cancer can occur. By studying these genes and their functions, researchers can develop new strategies for cancer prevention and treatment.

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      • Paediatrics
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  • Question 18 - You assess a 6-year-old girl with cerebral palsy who is experiencing persistent spasticity...

    Incorrect

    • 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:

      Correct 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 19 - A 6-year-old girl is brought to the emergency department by her father. Her...

    Incorrect

    • A 6-year-old girl is brought to the emergency department by her father. Her temperature is 38.5ºC and her respiratory rate is 30 breaths per minute.

      During the examination, you observe that her left leg is warm and swollen with purple discoloration. On the back of her leg, her skin is peeling, and a deep, erythematosus, diffuse, grey soft wound is visible with white discharge.

      When you ask her father about her medical history, he mentions that there was an outbreak of chickenpox at her school. He first noticed the wound on her leg three days ago.

      Her Hb is 115 g/L (110-140), platelets are 140* 109/L (150 - 450), and WBC is 16 * 109/L (5-12 * 109).

      What is the most likely complication?

      Your Answer:

      Correct Answer: Necrotising fasciitis

      Explanation:

      Chickenpox and its Complications

      Chickenpox can lead to various complications, including invasive group A streptococcal soft tissue infections such as necrotizing fasciitis. This rare complication of the varicella-zoster virus causes painful lesions on the skin and underlying muscles, with systemic symptoms and open wounds. Diagnosis is made by passing a probe or gloved finger below the affected skin, causing it to separate from the underlying tissue.

      Another complication caused by group A streptococcus is cellulitis, which affects the dermis and subcutaneous tissue. It presents with erythema, pain, swelling, and warmth, without systemic symptoms. Erysipelas, on the other hand, is a bacterial infection that affects the superficial layer of the dermis and commonly affects superficial cutaneous lymphatics. It presents similarly to cellulitis but has well-defined borders and can be a rare complication of chickenpox.

      Henoch-Schonlein Purpura is an IgA-mediated vasculitis of the small vessels of the skin. It can rarely present as a complication of chickenpox with a widespread rash on the buttocks and lower thigh, abdominal pain, and joint pain. Reyes syndrome is another complication that commonly presents after a recent viral infection such as chickenpox. It is also thought to be triggered by aspirin use, which is often used to treat the symptoms of chickenpox, such as headaches. It presents with tachypnea, tiredness, and in severe cases can cause behavioral changes and coma. However, in this case, the patient only presents with tachypnea, and there is no evidence to suggest the use of aspirin.

      Chickenpox: Causes, Symptoms, and Management

      Chickenpox is a viral infection caused by the varicella zoster virus. It is highly contagious and can be spread through respiratory droplets. The virus can also reactivate later in life, causing shingles. Chickenpox is most infectious four days before the rash appears and until five days after the rash first appears. The incubation period is typically 10-21 days. Symptoms include fever, an itchy rash that starts on the head and trunk before spreading, and mild systemic upset.

      Management of chickenpox is supportive and includes keeping cool, trimming nails, and using calamine lotion. School exclusion is recommended during the infectious period. Immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops, IV acyclovir may be considered. Secondary bacterial infection of the lesions is a common complication, which may be increased by the use of NSAIDs. In rare cases, invasive group A streptococcal soft tissue infections may occur, resulting in necrotizing fasciitis. Other rare complications include pneumonia, encephalitis, disseminated haemorrhagic chickenpox, arthritis, nephritis, and pancreatitis.

      Radiographic Findings in Varicella Pneumonia

      Varicella pneumonia is a rare complication of chickenpox that can occur in immunocompromised patients or adults. Radiographic findings of healed varicella pneumonia may include miliary opacities throughout both lungs, which are of uniform size and dense, suggesting calcification. There is typically no focal lung parenchymal mass or cavitating lesion seen. These findings are characteristic of healed varicella pneumonia.

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  • Question 20 - A 12-year-old girl comes to the paediatric outpatient departments with a height of...

    Incorrect

    • A 12-year-old girl comes to the paediatric outpatient departments with a height of 142 cm, which is below the 0.4th centile. Upon examination, she has an immature-appearing face and a significantly delayed bone age on wrist x-ray. Her TSH levels are normal, and she is at an appropriate Tanner stage. It is noted that her mother had her menarche at the age of 11 years. What is the probable diagnosis for this patient?

      Your Answer:

      Correct Answer: Growth hormone deficiency

      Explanation:

      Growth Hormone Deficiency as a Cause of Short Stature in Pubescent Girls

      A girl who has gone through puberty but has not gained height may have growth hormone deficiency. This condition is characterized by a discrepancy between the girl’s bone age and chronological age, as well as a doll-like face that gives her an immature appearance. Growth hormone deficiency is a rare but significant cause of short stature, as it can be a symptom of an underlying disease and can be treated with replacement injections.

      In some cases, GH deficiency may be caused by intracerebral masses, particularly craniopharyngiomas in 7- to 10-year-olds. However, if a chronic illness were the cause, such as coeliac disease or Cushing syndrome, it would likely delay puberty and result in an inappropriately young Tanner stage. The girl would also be expected to exhibit features of the chronic condition.

      It is important to note that this girl is not suffering from constitutional delay, as she has already entered puberty and has appropriate Tanner staging. Constitutional delay is typically characterized by a family history and delayed menarche in the affected individual. Therefore, growth hormone deficiency should be considered as a potential cause of short stature in pubescent girls who have not gained height despite going through puberty.

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      • Paediatrics
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  • Question 21 - A 6-year-old boy is brought in to see his GP by his father,...

    Incorrect

    • A 6-year-old boy is brought in to see his GP by his father, who reports that he has been complaining of a sore throat and has developed a skin rash over the past few days. During examination, you observe erythematous macules and papules measuring 3-4 mm on the dorsum of his hands and feet. You diagnose him with hand, foot and mouth disease. The father inquires if his son should stay home from school. What guidance will you provide regarding school exclusion?

      Your Answer:

      Correct Answer: No need to stay off school if she feels well

      Explanation:

      Exclusion from a childcare setting or school is not necessary for a child with hand, foot and mouth disease, as long as they are feeling well.

      Hand, Foot and Mouth Disease: A Contagious Condition in Children

      Hand, foot and mouth disease is a viral infection that commonly affects children. It is caused by intestinal viruses from the Picornaviridae family, particularly coxsackie A16 and enterovirus 71. This condition is highly contagious and often occurs in outbreaks in nurseries. The symptoms of hand, foot and mouth disease include mild systemic upset such as sore throat and fever, as well as oral ulcers and vesicles on the palms and soles of the feet.

      Symptomatic treatment is the only management option for hand, foot and mouth disease. This includes general advice about hydration and analgesia, as well as reassurance that there is no link to disease in cattle. Children do not need to be excluded from school, but the Health Protection Agency recommends that children who are unwell should be kept off school until they feel better. If there is a suspected large outbreak, it is advised to contact the Health Protection Agency for further guidance.

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  • Question 22 - A 3-week-old baby girl is brought to the emergency department due to continuous...

    Incorrect

    • A 3-week-old baby girl is brought to the emergency department due to continuous vomiting. According to the mother, the baby's vomiting is like a fountain. What is the most suitable investigation to confirm the suspected diagnosis?

      Your Answer:

      Correct Answer: US Abdomen

      Explanation:

      Ultrasound is the key investigation for pyloric stenosis, as other methods such as abdominal x-ray, CT scans, TTG antibodies, and upper GI contrast study are less useful or not applicable for young children with this condition. The classic symptom of pyloric stenosis is forceful projectile vomiting.

      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.

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  • Question 23 - A 2-day-old baby girl is presented to the emergency department by her parents...

    Incorrect

    • A 2-day-old baby girl is presented to the emergency department by her parents with complaints of decreased oral intake and fussiness. The parents also report that the baby has been vomiting green liquid and has not had a bowel movement since passing meconium, although she has had wet diapers. The baby was born vaginally at 39 weeks without any complications during pregnancy or delivery. An upper gastrointestinal contrast study revealed intestinal malrotation. What is the most appropriate definitive treatment option?

      Your Answer:

      Correct Answer: Ladd’s procedure

      Explanation:

      A newborn with symptoms of bowel obstruction and bilious vomiting is suspected to have paediatric intestinal malrotation with volvulus. An upper gastrointestinal contrast study confirms the diagnosis. The most appropriate management option is a Ladd’s procedure, which involves division of Ladd bands and widening of the base of the mesentery. If vascular compromise is present, an urgent laparotomy is required. IV antibiotics are not indicated as there are no signs of infection. NEC may require antibiotics, but it presents differently with feeding intolerance, abdominal distension, and bloody stools, and is more common in premature infants.

      Paediatric Gastrointestinal Disorders

      Pyloric stenosis is more common in males and has a 5-10% chance of being inherited from parents. Symptoms include projectile vomiting at 4-6 weeks of life, and diagnosis is made through a test feed or ultrasound. Treatment involves a Ramstedt pyloromyotomy, either open or laparoscopic.

      Acute appendicitis is uncommon in children under 3 years old, but when it does occur, it may present atypically. Mesenteric adenitis causes central abdominal pain and URTI, and is treated conservatively.

      Intussusception occurs in infants aged 6-9 months and causes colicky pain, diarrhea, vomiting, a sausage-shaped mass, and red jelly stool. Treatment involves reduction with air insufflation.

      Intestinal malrotation is characterized by a high caecum at the midline and may be complicated by the development of volvulus. Diagnosis is made through an upper GI contrast study and ultrasound, and treatment involves laparotomy or a Ladd’s procedure.

      Hirschsprung’s disease occurs in 1/5000 births and is characterized by delayed passage of meconium and abdominal distension. Treatment involves rectal washouts and an anorectal pull through procedure.

      Oesophageal atresia is associated with tracheo-oesophageal fistula and polyhydramnios, and may present with choking and cyanotic spells following aspiration. Meconium ileus is usually associated with cystic fibrosis and requires surgery to remove plugs. Biliary atresia causes jaundice and increased conjugated bilirubin, and requires an urgent Kasai procedure. Necrotising enterocolitis is more common in premature infants and is treated with total gut rest and TPN, with laparotomy required for perforations.

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  • Question 24 - Which one of the following statements regarding cow's milk protein intolerance/allergy in toddlers...

    Incorrect

    • Which one of the following statements regarding cow's milk protein intolerance/allergy in toddlers is true?

      Your Answer:

      Correct Answer: The majority of cases resolve before the age of 5 years

      Explanation:

      Understanding Cow’s Milk Protein Intolerance/Allergy

      Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects around 3-6% of children, typically presenting in the first 3 months of life in formula-fed infants. Both immediate and delayed reactions can occur, with CMPA used for immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms include regurgitation, vomiting, diarrhea, urticaria, atopic eczema, colic symptoms, wheeze, chronic cough, and rarely, angioedema and anaphylaxis. Diagnosis is often clinical, with investigations including skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein.

      Management for formula-fed infants includes using extensive hydrolyzed formula (eHF) milk as the first-line replacement formula for mild-moderate symptoms and amino acid-based formula (AAF) for severe CMPA or if no response to eHF. Around 10% of infants are also intolerant to soya milk. For breastfed infants, mothers should eliminate cow’s milk protein from their diet and consider prescribing calcium supplements to prevent deficiency. eHF milk can be used when breastfeeding stops until at least 6 months and up to 12 months of age.

      The prognosis for CMPI is usually good, with most children becoming milk tolerant by the age of 3-5 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur. It is important to refer infants with severe symptoms to a pediatrician for management. Understanding CMPI/CMPA and its management can help parents and healthcare providers provide appropriate care for affected children.

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  • Question 25 - A 2-week-old infant is presented with vomiting, feeding intolerance, and abdominal distension. During...

    Incorrect

    • A 2-week-old infant is presented with vomiting, feeding intolerance, and abdominal distension. During examination, it is observed that the nappy contains watery stools with specks of blood. An abdominal X-ray is performed, which shows gas cysts in the bowel wall. What is the probable diagnosis?

      Your Answer:

      Correct Answer: Necrotizing enterocolitis

      Explanation:

      The most likely diagnosis is necrotizing enterocolitis based on the symptoms and the presence of gas cysts in the bowel wall on the abdominal x-ray. While Intussusception can also cause vomiting and abdominal distention, it is typically characterized by rectal bleeding that resembles red currant jelly. Additionally, Intussusception is more common in infants between 3-12 months of age, making it unlikely in a 1-week-old infant. An abdominal x-ray in Intussusception would show intestinal obstruction rather than gas cysts.

      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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  • Question 26 - A 7-year-old boy presents to the GP clinic with symptoms suggestive of a...

    Incorrect

    • A 7-year-old boy presents to the GP clinic with symptoms suggestive of a common cold. He is meeting his developmental milestones as expected, enjoys playing soccer, and has no other health concerns. During auscultation of his chest, you notice a soft, low-pitched murmur that occurs early in systole and is most audible at the lower left sternal border. S1 and a split S2 are both audible, with the latter becoming wider during inspiration. What is the likely diagnosis?

      Your Answer:

      Correct Answer: Innocent murmur

      Explanation:

      Innocent Murmurs and Other Heart Conditions in Children

      Innocent murmurs are common in children and are considered benign. They are diagnosed through clinical examination and history, and are characterized by a lack of associated symptoms such as feeding difficulties, shortness of breath, and cyanosis. Innocent murmurs are not loud and do not have associated heaves or thrills. They occur in systole and are associated with normal heart sounds. The Valsalva maneuver can reduce their intensity by reducing venous return.

      Other heart conditions in children may present with symptoms such as feeding difficulties, shortness of breath, and cyanosis. Abnormal pulses, heaves, and thrills may also be present during examination. Aortic stenosis may be associated with an ejection click and can cause shortness of breath and exertional syncope. Patent ductus arteriosus produces a continuous murmur and may present with cyanosis or breathing difficulties. Pulmonary stenosis is characterized by a widely split second heart sound and may have an ejection systolic click. Ventricular septal defects produce a harsh pan-systolic sound and may be asymptomatic if small.

      the differences between innocent murmurs and other heart conditions in children is important for proper diagnosis and treatment. Innocent murmurs are common and benign, while other conditions may require further evaluation and intervention. Clinical examination and history are key in identifying these conditions and determining the appropriate course of action.

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  • Question 27 - A 3-year-old boy was brought to his GP by his mother, who had...

    Incorrect

    • A 3-year-old boy was brought to his GP by his mother, who had noticed a slight squint in his left eye. During the examination, the GP observed that the red reflex was absent.
      What is the most accurate description of this child's condition?

      Your Answer:

      Correct Answer: There is a significant risk for secondary malignancy in survivors

      Explanation:

      Retinoblastoma: A Rare Eye Cancer with High Survival Rate but Risk of Secondary Malignancy

      Retinoblastoma is a rare type of eye cancer that primarily affects children under the age of 5. It is characterized by an abnormal reflection in the pupil, appearing white instead of red, known as leucocoria. Most cases are caused by mutations in the retinoblastoma 1 (RB1) gene, located on chromosome 13, with one-third of cases being inherited in an autosomal dominant pattern. Surgical removal of the tumor, usually through enucleation, is the standard treatment, and the 5-year survival rate is almost 100% if diagnosed and treated promptly.

      However, survivors of retinoblastoma are at risk of developing secondary non-ocular tumors, including malignant melanoma, sarcoma, brain tumors, leukemia, and osteosarcoma. Therefore, regular monitoring throughout life is necessary. Most cases are diagnosed before the age of 5, with 90% of cases being diagnosed before the child’s fifth birthday. It is important to note that retinoblastoma is not a recessive condition, and the RB1 gene is located on chromosome 13, not 16.

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  • Question 28 - A 3-year-old child is admitted with poor appetite. Over the last 24 hours,...

    Incorrect

    • A 3-year-old child is admitted with poor appetite. Over the last 24 hours, they have eaten only 25% of their usual amount and have had significantly fewer wet diapers than usual. The child has been particularly irritable over this time and is not settling. There is no past medical history, no known allergies, and there has been no travel outside of the UK.

      On examination, the child appears unsettled and grouchy. There are no rashes on exposure and the fontanelles appear normal. The physical observations reveal tachycardia and a fever of 39ºC. When you attempt to manually flex the child's neck you note that they also flex the hips and knees.

      What is the most appropriate empirical intravenous treatment for this child?

      Your Answer:

      Correct Answer: Ceftriaxone

      Explanation:

      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.

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  • Question 29 - A two-hour-old baby born at 38+5 weeks in the Special Care Baby Unit...

    Incorrect

    • A two-hour-old baby born at 38+5 weeks in the Special Care Baby Unit is exhibiting mild respiratory distress, with subcostal recessions and grunting. The baby's respiratory rate is 68/min without any apnoeas, their heart rate is 150 bpm, and their axillary temperature is 36.8ºC. The baby appears pink, with normal pre-post ductal saturations and no additional heart sounds. Fontanelles are normal, and their birth weight is within the normal range.

      The chest X-ray shows hyperinflation and a thin fluid line in the right horizontal fissure. What is the most significant risk factor for the likely diagnosis?

      Your Answer:

      Correct Answer: Caesarean section delivery

      Explanation:

      Transient tachypnoea of the newborn (TTN) is most likely the diagnosis for a baby with mildly raised respiratory rate and increased work of breathing in the hours after labour, with all other observations being normal. Caesarean section delivery is the most important risk factor for TTN, with other risk factors including male gender, birth asphyxia, and gestational diabetes. Breech presentation is not a risk factor for TTN, while meconium in liquor would make meconium aspiration the most likely diagnosis. Fever during vaginal delivery would make other infective differentials more likely, but a sepsis screen would be needed to rule this out before a diagnosis of TTN could be made.

      Understanding Transient Tachypnoea of the Newborn

      Transient tachypnoea of the newborn (TTN) is a common respiratory condition that affects newborns. It is caused by the delayed resorption of fluid in the lungs, which can lead to breathing difficulties. TTN is more common in babies born via caesarean section, as the fluid in their lungs may not be squeezed out during the birth process. A chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.

      The management of TTN involves observation and supportive care. In some cases, supplementary oxygen may be required to maintain oxygen saturation levels. However, TTN usually resolves within 1-2 days. It is important for healthcare professionals to monitor newborns with TTN closely and provide appropriate care to ensure a full recovery. By understanding TTN and its management, healthcare professionals can provide the best possible care for newborns with this condition.

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  • Question 30 - A toddler with macrosomia has had a difficult delivery, owing to shoulder dystocia....

    Incorrect

    • A toddler with macrosomia has had a difficult delivery, owing to shoulder dystocia. The obstetrician pulled the child’s head downwards towards the floor to disengage the anterior shoulder from below the pubic bones. When the child is having a check-up prior to discharge, the paediatrician notes that the left upper limb is adducted and medially rotated, with extension at the elbow joint. When questioned, the mother admits that the child has not been moving it.
      What is the most likely diagnosis?

      Your Answer:

      Correct Answer: Erb–Duchenne palsy due to trauma to the upper trunk of the brachial plexus

      Explanation:

      Differentiating Brachial Plexus Injuries: Causes and Symptoms

      The brachial plexus is a network of nerves that originates from the spinal cord and supplies the upper limb. Trauma to this network can result in various types of injuries, each with its own set of symptoms. Here are some of the common types of brachial plexus injuries and their distinguishing features:

      Erb-Duchenne Palsy: This injury occurs due to trauma to the upper trunk of the brachial plexus, typically during obstructed labor or delivery. The affected muscles include those supplied by the musculocutaneous, radial, and axillary nerves, resulting in adduction and medial rotation of the arm, wrist drop, and sensory loss along the posterolateral aspect of the limb.

      Isolated Radial Nerve Injury: This type of injury is associated with paralysis of the wrist and digital extensors, as well as the triceps. However, medial rotation of the humerus is not affected.

      Klumpke’s Palsy: This injury is caused by trauma to the lower trunk of the brachial plexus, often during difficult delivery or sudden upward stretching of the upper limb. It results in claw hand due to damage to T1, causing paralysis of the short muscles of the hand.

      Isolated Axillary Nerve Injury: With this type of injury, the wrist extensors function normally.

      Isolated Musculocutaneous Nerve Injury: This injury is not associated with wrist drop.

      In summary, understanding the specific symptoms associated with each type of brachial plexus injury can aid in accurate diagnosis and treatment.

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Paediatrics (13/16) 81%
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