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  • Question 1 - A father brings his 20-month-old son to your GP clinic. The child has...

    Incorrect

    • A father brings his 20-month-old son to your GP clinic. The child has been experiencing coryzal symptoms for the past 2 days. Yesterday night, he developed a barking cough and a mild fever of 37.8º. Upon examination, there is mild stridor when moving around, but no visible recessions. The chest sounds clear with good air entry on both sides. The temperature remains at 37.8º today, but all other observations are normal. What is the best course of action for management?

      Your Answer: Admit to hospital

      Correct Answer: Give a stat dose of dexamethasone 150 micrograms/kg PO

      Explanation:

      For a child with croup, the first step is to determine the severity of the illness. Mild croup is characterized by occasional barking cough without stridor at rest, no or mild recessions, and a well-looking child. Moderate croup involves frequent barking cough and stridor at rest, recessions at rest, and no distress. Severe croup is marked by prominent inspiratory stridor at rest, marked recessions, distress, agitation or lethargy, and tachycardia. In this case, the child has mild croup and does not require hospital admission. Nebulized adrenaline and a salbutamol inhaler are not necessary as the child is not distressed and does not have wheeze. Antibiotics are not effective for croup as it is a viral illness. However, a single dose of oral dexamethasone (0.15 mg/kg) can be taken immediately to ease symptoms and reduce the likelihood of reattendance or hospital admission.

      Understanding Croup: A Respiratory Infection in Infants and Toddlers

      Croup is a type of upper respiratory tract infection that commonly affects infants and toddlers. It is characterized by a barking cough, fever, and coryzal symptoms, and is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses are the most common cause of croup. The condition typically peaks between 6 months and 3 years of age, and is more prevalent during the autumn season.

      The severity of croup can be graded based on the presence of symptoms such as stridor, cough, and respiratory distress. Mild cases may only have occasional barking cough and no audible stridor at rest, while severe cases may have frequent barking cough, prominent inspiratory stridor at rest, and marked sternal wall retractions. Children with moderate or severe croup, those under 6 months of age, or those with known upper airway abnormalities should be admitted to the hospital.

      Diagnosis of croup is usually made based on clinical presentation, but a chest x-ray may show subglottic narrowing, commonly referred to as the steeple sign. Treatment for croup typically involves a single dose of oral dexamethasone or prednisolone, regardless of severity. In emergency situations, high-flow oxygen and nebulized adrenaline may be necessary.

      Understanding croup is important for parents and healthcare providers alike, as prompt recognition and treatment can help prevent complications and improve outcomes for affected children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 2 - A 17-year-old boy with cystic fibrosis is due for his yearly check-up. He...

    Correct

    • A 17-year-old boy with cystic fibrosis is due for his yearly check-up. He was diagnosed with cystic fibrosis 16 years ago. Despite having good exercise tolerance and minimal gastrointestinal symptoms, he has been hospitalized twice in the past year. His recent blood work shows iron-deficient anemia, and multiple sputum cultures have tested positive for Burkholderia species. His latest FEV1 is 55% of his predicted value. What aspect of his medical history poses the greatest risk for mortality?

      Your Answer: Burkholderia species on sputum culture

      Explanation:

      Increases the likelihood of death and illness to a greater extent.

      Managing Cystic Fibrosis: A Multidisciplinary Approach

      Cystic fibrosis (CF) is a chronic condition that requires a multidisciplinary approach to management. Regular chest physiotherapy and postural drainage, as well as deep breathing exercises, are essential to maintain lung function and prevent complications. Parents are usually taught how to perform these techniques. A high-calorie diet, including high-fat intake, is recommended to meet the increased energy needs of patients with CF. Vitamin supplementation and pancreatic enzyme supplements taken with meals are also important.

      Patients with CF should try to minimize contact with each other to prevent cross-infection with Burkholderia cepacia complex and Pseudomonas aeruginosa. Chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation. In cases where lung transplantation is necessary, careful consideration is required to ensure the best possible outcome.

      Lumacaftor/Ivacaftor (Orkambi) is a medication used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation. Lumacaftor increases the number of CFTR proteins that are transported to the cell surface, while ivacaftor is a potentiator of CFTR that is already at the cell surface. This increases the probability that the defective channel will be open and allow chloride ions to pass through the channel pore.

      It is important to note that the standard recommendation for CF patients has changed from high-calorie, low-fat diets to high-calorie diets to reduce the amount of steatorrhea. With a multidisciplinary approach to management, patients with CF can lead fulfilling lives and manage their condition effectively.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 3 - A 2-year-old girl presents to the emergency department with a 1-day history of...

    Incorrect

    • A 2-year-old girl presents to the emergency department with a 1-day history of rectal bleeding. Her parents report seeing fresh blood in her nappies mixed with her stool. Upon examination, she appears alert, active, afebrile, and hemodynamically stable. She has non-specific abdominal tenderness without guarding, and there is no active bleeding. An abdominal ultrasound is performed, which shows no abnormalities. Meckel's diverticulum is suspected. What is the most appropriate next step in investigating this patient?

      Your Answer: Routine barium study

      Correct Answer: Technetium scan

      Explanation:

      When investigating stable children with suspected Meckel’s diverticulum, a technetium scan is the preferred method.

      Meckel’s diverticulum is a small pouch in the small intestine that is present from birth. It is a leftover part of the omphalomesenteric duct, which is also known as the vitellointestinal duct. The diverticulum can contain tissue from the ileum, stomach, or pancreas. This condition is relatively rare, occurring in only 2% of the population. Meckel’s diverticulum is typically located about 2 feet from the ileocaecal valve and is around 2 inches long.

      In most cases, Meckel’s diverticulum does not cause any symptoms and is only discovered incidentally during medical tests. However, it can cause abdominal pain that is similar to appendicitis, rectal bleeding, and intestinal obstruction. In fact, it is the most common cause of painless massive gastrointestinal bleeding in children between the ages of 1 and 2 years.

      To diagnose Meckel’s diverticulum, doctors may perform a Meckel’s scan using a radioactive substance that has an affinity for gastric mucosa. In more severe cases, mesenteric arteriography may be necessary. Treatment typically involves surgical removal of the diverticulum if it has a narrow neck or is causing symptoms. The options for surgery include wedge excision or formal small bowel resection and anastomosis.

      Meckel’s diverticulum is caused by a failure of the attachment between the vitellointestinal duct and the yolk sac to disappear during fetal development. The diverticulum is typically lined with ileal mucosa, but it can also contain ectopic gastric, pancreatic, or jejunal mucosa. This can increase the risk of peptic ulceration and other complications. Meckel’s diverticulum is often associated with other conditions such as enterocystomas, umbilical sinuses, and omphalocele fistulas.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 4 - A 5-year-old child has a history of chronic constipation for the past two...

    Incorrect

    • A 5-year-old child has a history of chronic constipation for the past two years and chronic abdominal distention with vomiting for six months. Hirschsprung's disease is suspected. What investigation from the list below provides the most conclusive diagnosis for this condition?

      Your Answer: Barium enema

      Correct Answer: Rectal biopsy

      Explanation:

      While anorectal manometry can aid in the diagnosis of Hirschsprung’s disease, the gold standard for confirmation remains rectal biopsy. This is due to the fact that microscopic analysis reveals the absence of ganglionic nerve cells in the affected area.

      Understanding Hirschsprung’s Disease

      Hirschsprung’s disease is a rare condition that affects 1 in 5,000 births. It is caused by a developmental failure of the parasympathetic Auerbach and Meissner plexuses, resulting in an aganglionic segment of bowel. This leads to uncoordinated peristalsis and functional obstruction, which can present as constipation and abdominal distension in older children or failure to pass meconium in the neonatal period.

      Hirschsprung’s disease is three times more common in males and is associated with Down’s syndrome. Diagnosis is made through a rectal biopsy, which is considered the gold standard. Treatment involves initial rectal washouts or bowel irrigation, followed by surgery to remove the affected segment of the colon.

      In summary, Hirschsprung’s disease is a rare condition that can cause significant gastrointestinal symptoms. It is important to consider this condition as a differential diagnosis in childhood constipation, especially in male patients or those with Down’s syndrome. Early diagnosis and treatment can improve outcomes and prevent complications.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 5 - A 16-month-old toddler comes to your primary care clinic after experiencing a seizure....

    Incorrect

    • A 16-month-old toddler comes to your primary care clinic after experiencing a seizure. The parents are extremely worried as one of their relatives has epilepsy and they fear that their child may have it too. Upon examination, the child seems alert and has a temperature of 38.4C, which the parents say has been present for four days. They have been giving calpol, which has helped to bring it down from a high of 40.7ºC. You also notice a pink, maculopapular rash on the chest with minimal spread to the limbs, which the mother says she noticed this morning. The child has been eating but has had some diarrhea, and you can feel some enlarged glands on the back of their head. There is no rash in the mouth. Based on your observations, what do you think is the most probable underlying cause of the child's symptoms?

      Your Answer: Measles

      Correct Answer: Herpes virus 6

      Explanation:

      Herpes virus 6 is responsible for causing Roseola infantum, which is identified by a high fever lasting for 3-5 days followed by a rash that appears on the chest and spreads to the limbs over a period of 2 days. This rash typically emerges as the fever subsides. Kaposi’s sarcoma is linked to Herpes virus 8 and is commonly observed in individuals with AIDS. ‘Slapped cheek syndrome’ is caused by Parvovirus B19, which initiates a rash that starts on the cheeks and then spreads. Group A Streptococcus is known to cause infections of the throat (also known as strep throat) and skin, including cellulitis, erysipelas, and impetigo.

      Understanding Roseola Infantum

      Roseola infantum, also known as exanthem subitum or sixth disease, is a common illness that affects infants and is caused by the human herpes virus 6 (HHV6). This disease has an incubation period of 5-15 days and is typically seen in children aged 6 months to 2 years. The most common symptoms of roseola infantum include a high fever that lasts for a few days, followed by a maculopapular rash. Other symptoms may include Nagayama spots, which are papular enanthems on the uvula and soft palate, as well as cough and diarrhea.

      In some cases, febrile convulsions may occur in around 10-15% of children with roseola infantum. While this can be concerning for parents, it is important to note that this is a common occurrence and typically resolves on its own. Additionally, HHV6 infection can lead to other possible consequences such as aseptic meningitis and hepatitis.

      It is important to note that school exclusion is not necessary for children with roseola infantum. While this illness can be uncomfortable for infants, it is typically not serious and resolves on its own within a few days.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 6 - A 4-month-old boy is being seen by his GP for an undescended testi....

    Correct

    • A 4-month-old boy is being seen by his GP for an undescended testi. During the NIPE at birth, his right testi was found to be undescended. On examination today, only one testi is palpated in the scrotum. The patient is referred to the surgeons for further evaluation. What potential complication is this patient at an elevated risk of experiencing if the undescended testi is not addressed?

      Your Answer: Testicular torsion

      Explanation:

      Undescended testicles can lead to testicular torsion, infertility, and testicular cancer if left untreated. It is recommended to wait up to three months for spontaneous descent, but intervention should occur by six months of age. Femoral hernias are rare in childhood, but undescended testicles may increase the risk of an inguinal hernia. Hydroceles are common at birth and resolve on their own, without known association to undescended testicles. While orchitis can occur in an undescended testis, there is no increased risk of orchitis due to lack of descent.

      Undescended Testis: Causes, Complications, and Management

      Undescended testis is a condition that affects around 2-3% of male infants born at term, but it is more common in preterm babies. Bilateral undescended testes occur in about 25% of cases. This condition can lead to complications such as infertility, torsion, testicular cancer, and psychological issues.

      To manage unilateral undescended testis, NICE CKS recommends considering referral from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age. Orchidopexy, a surgical procedure, is typically performed at around 1 year of age, although surgical practices may vary.

      For bilateral undescended testes, it is crucial to have the child reviewed by a senior paediatrician within 24 hours as they may require urgent endocrine or genetic investigation. Proper management of undescended testis is essential to prevent complications and ensure the child’s overall health and well-being.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 7 - At what developmental stage would a child have the ability to briefly sit...

    Incorrect

    • 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: 4 months

      Correct 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 8 - A 2-year-old girl presents with bilious vomiting, abdominal distension and has been constipated...

    Correct

    • A 2-year-old girl presents with bilious vomiting, abdominal distension and has been constipated since birth and did not pass meconium until she was 3 days old. Height and weight are at the fifth percentile. On examination, the abdomen is distended and a PR examination causes stool ejection. What is the probable diagnosis?

      Your Answer: Hirschsprung disease

      Explanation:

      Hirschsprung disease is a bowel disease that is present at birth and is more common in boys than girls, occurring five times more frequently. The typical symptoms include vomiting of bile, swelling of the abdomen, difficulty passing stool, and failure to pass meconium within the first two days of life. However, in some cases, the disease may not become apparent until later in childhood or adolescence. A colon biopsy is used to diagnose the condition, which reveals a segment of bowel that lacks nerve cells.

      Understanding Hirschsprung’s Disease

      Hirschsprung’s disease is a rare condition that affects 1 in 5,000 births. It is caused by a developmental failure of the parasympathetic Auerbach and Meissner plexuses, resulting in an aganglionic segment of bowel. This leads to uncoordinated peristalsis and functional obstruction, which can present as constipation and abdominal distension in older children or failure to pass meconium in the neonatal period.

      Hirschsprung’s disease is three times more common in males and is associated with Down’s syndrome. Diagnosis is made through a rectal biopsy, which is considered the gold standard. Treatment involves initial rectal washouts or bowel irrigation, followed by surgery to remove the affected segment of the colon.

      In summary, Hirschsprung’s disease is a rare condition that can cause significant gastrointestinal symptoms. It is important to consider this condition as a differential diagnosis in childhood constipation, especially in male patients or those with Down’s syndrome. Early diagnosis and treatment can improve outcomes and prevent complications.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 9 - 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.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 10 - At what age is precocious puberty in females defined as the development of...

    Incorrect

    • At what age is precocious puberty in females defined as the development of secondary sexual characteristics occurring before?

      Your Answer: 9 years of age

      Correct Answer: 8 years of age

      Explanation:

      Understanding Precocious Puberty

      Precocious puberty is a condition where secondary sexual characteristics develop earlier than expected, before the age of 8 in females and 9 in males. It is more common in females and can be classified into two types: gonadotrophin dependent and gonadotrophin independent. The former is caused by premature activation of the hypothalamic-pituitary-gonadal axis, resulting in raised levels of FSH and LH. The latter is caused by excess sex hormones, with low levels of FSH and LH. In males, precocious puberty is uncommon and usually has an organic cause, such as gonadotrophin release from an intracranial lesion, gonadal tumour, or adrenal cause. In females, it is usually idiopathic or familial and follows the normal sequence of puberty. Organic causes are rare and associated with rapid onset, neurological symptoms and signs, and dissonance, such as in McCune Albright syndrome. Understanding precocious puberty is important for early detection and management of the condition.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 11 - A 7-year-old boy is presented to the Emergency department with a sudden onset...

    Incorrect

    • A 7-year-old boy is presented to the Emergency department with a sudden onset of limping. He denies any history of injury, but experiences pain in his right hip with any movement. Additionally, his temperature is 37.5°C. What investigation would have the greatest impact on your management plan in the next few hours?

      Your Answer: Joint aspiration

      Correct Answer: Full blood count (FBC) and C reactive protein (CRP)

      Explanation:

      Assessing Orthopaedic Infection Risk in Limping Children

      In order to assess the risk of orthopaedic infection in a limping child, it is important to consider the most likely diagnoses, which include septic arthritis, osteomyelitis, and trauma. If the child is apyrexial, the risk of septic arthritis is low, but it is still important to measure inflammatory markers and white cell count before considering further testing. If these markers are elevated, blood cultures should be taken and an ultrasound scan performed to look for an effusion that could be aspirated. If the markers are normal, the diagnosis is likely to be transient synovitis of the hip.

      In older apyrexial children, bilateral AP hip x-rays may be performed to investigate for slipped upper femoral epiphysis, although this is rare in children under 8 years old. By carefully assessing the child’s symptoms and conducting appropriate tests, healthcare professionals can accurately diagnose and treat orthopaedic infections in limping children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 12 - What are the typical vaccines administered to adolescents aged 12-19 years? ...

    Correct

    • What are the typical vaccines administered to adolescents aged 12-19 years?

      Your Answer: Tetanus/diphtheria/polio + Men ACWY

      Explanation:

      The UK immunisation schedule recommends certain vaccines at different ages. At birth, the BCG vaccine is given if the baby is at risk of tuberculosis. At 2, 3, and 4 months, the ‘6-1 vaccine’ (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B) and oral rotavirus vaccine are given, along with Men B and PCV at certain intervals. At 12-13 months, the Hib/Men C, MMR, and PCV vaccines are given, along with Men B. At 3-4 years, the ‘4-in-1 preschool booster’ (diphtheria, tetanus, whooping cough and polio) and MMR vaccines are given. At 12-13 years, the HPV vaccination is given, and at 13-18 years, the ‘3-in-1 teenage booster’ (tetanus, diphtheria and polio) and Men ACWY vaccines are given. Additionally, the flu vaccine is recommended annually for children aged 2-8 years.

      It is important to note that the meningitis ACWY vaccine has replaced meningitis C for 13-18 year-olds due to an increased incidence of meningitis W disease in recent years. The ACWY vaccine will also be offered to new students (up to the age of 25 years) at university. GP practices will automatically send letters inviting 17-and 18-year-olds in school year 13 to have the Men ACWY vaccine. Students going to university or college for the first time as freshers, including overseas and mature students up to the age of 25, should contact their GP to have the Men ACWY vaccine, ideally before the start of the academic year.

      It is worth noting that the Men C vaccine used to be given at 3 months but has now been discontinued. This is because the success of the Men C vaccination programme means there are almost no cases of Men C disease in babies or young children in the UK any longer. All children will continue to be offered the Hib/Men C vaccine at one year of age, and the Men ACWY vaccine at 14 years of age to provide protection across all age groups.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 13 - A 36 hour old neonate is presented to the GP by the parents...

    Correct

    • A 36 hour old neonate is presented to the GP by the parents due to the absence of bowel movement since birth at home and vomiting of yellow/green liquid after feeding. During the examination, the child's stomach appears significantly distended, but no palpable masses are detected. What is the gold standard diagnostic test for the probable diagnosis?

      Your Answer: Rectal biopsy

      Explanation:

      Understanding Hirschsprung’s Disease

      Hirschsprung’s disease is a rare condition that affects 1 in 5,000 births. It is caused by a developmental failure of the parasympathetic Auerbach and Meissner plexuses, resulting in an aganglionic segment of bowel. This leads to uncoordinated peristalsis and functional obstruction, which can present as constipation and abdominal distension in older children or failure to pass meconium in the neonatal period.

      Hirschsprung’s disease is three times more common in males and is associated with Down’s syndrome. Diagnosis is made through a rectal biopsy, which is considered the gold standard. Treatment involves initial rectal washouts or bowel irrigation, followed by surgery to remove the affected segment of the colon.

      In summary, Hirschsprung’s disease is a rare condition that can cause significant gastrointestinal symptoms. It is important to consider this condition as a differential diagnosis in childhood constipation, especially in male patients or those with Down’s syndrome. Early diagnosis and treatment can improve outcomes and prevent complications.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 14 - A newborn delivered at 36 weeks gestation through a normal vaginal delivery is...

    Correct

    • A newborn delivered at 36 weeks gestation through a normal vaginal delivery is exhibiting irritability and has experienced a convulsion 72 hours after birth. No visible head trauma or swelling is present. What type of cranial injury is most probable in this case?

      Your Answer: Intraventricular haemorrhage

      Explanation:

      Caput succedaneum is a condition that occurs when pressure is applied to the fetal scalp during birth, resulting in a swollen and bruised area. This condition typically resolves on its own within a few days and does not require treatment.

      Cephalohaematoma, on the other hand, can occur after a vaginal delivery or due to trauma from obstetric tools. This condition results in bleeding between the skull and the periosteum, causing a tense swelling that is limited to the outline of the bone. Cephalohaematoma typically resolves over a period of weeks to months.

      Subaponeurotic haemorrhage, also known as subgaleal haemorrhage, is a rare condition that can occur due to a traumatic birth. This condition can result in significant blood loss in the infant.

      Intracranial haemorrhage refers to bleeding within the brain, including subarachnoid, subdural, and intraventricular haemorrhages. Subarachnoid haemorrhages are common and can cause irritability and convulsions in the first few days of life. Subdural haemorrhages can occur due to the use of forceps during delivery. Intraventricular haemorrhages are most common in preterm infants and can be diagnosed using ultrasound examinations.

      Understanding Intraventricular Haemorrhage

      Intraventricular haemorrhage is a rare condition that involves bleeding into the ventricular system of the brain. While it is typically associated with severe head injuries in adults, it can occur spontaneously in premature neonates. In fact, the majority of cases occur within the first 72 hours after birth. The exact cause of this condition is not well understood, but it is believed to be a result of birth trauma and cellular hypoxia in the delicate neonatal central nervous system.

      Treatment for intraventricular haemorrhage is largely supportive, as therapies such as intraventricular thrombolysis and prophylactic cerebrospinal fluid drainage have not been shown to be effective. However, if hydrocephalus and rising intracranial pressure occur, shunting may be necessary. It is important for healthcare professionals to be aware of this condition and its potential complications in order to provide appropriate care for affected patients.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 15 - A neighbor has a grandchild diagnosed with tetralogy of Fallot and asks you...

    Correct

    • A neighbor has a grandchild diagnosed with tetralogy of Fallot and asks you about this condition.
      Which of the following is a characteristic of this condition?

      Your Answer: Right ventricular hypertrophy

      Explanation:

      Common Congenital Heart Defects and Acquired Valvular Defects

      Congenital heart defects are present at birth and can affect the structure and function of the heart. Tetralogy of Fallot is a common congenital heart defect that includes right ventricular hypertrophy, ventricular septal defect, right-sided outflow tract obstruction, and overriding aorta. On the other hand, patent ductus arteriosus (PDA) and atrial septal defect (ASD) are not part of the tetralogy of Fallot but are commonly occurring congenital heart defects.

      PDA is characterized by a persistent communication between the descending thoracic aorta and the pulmonary artery, while ASD is characterized by a defect in the interatrial septum, allowing shunting of blood from left to right. If left untreated, patients with a large PDA are at risk of developing Eisenmenger syndrome in later life.

      Acquired valvular defects, on the other hand, are not present at birth but develop over time. Aortic stenosis is an acquired valvular defect that results from progressive narrowing of the aortic valve area over several years. Tricuspid stenosis, which is caused by obstruction of the tricuspid valve, can be a result of several conditions, including rheumatic heart disease, congenital abnormalities, active infective endocarditis, and carcinoid tumors.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 16 - 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 17 - A six-year-old boy is brought to the doctor by his mother due to...

    Incorrect

    • 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: West syndrome (infantile spasms)

      Correct 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 18 - A teenager attends the GP with his mother who is concerned about his...

    Incorrect

    • A teenager attends the GP with his mother who is concerned about his height. The GP charts the teenager's height on a growth chart and finds him to be in the 5th percentile. At birth, he was in the 50th percentile. However, the teenager's developmental milestones are normal, and he appears to be content with himself. What is the most appropriate next step in managing this teenager?

      Your Answer: Make a urgent referral to the the paediatric admissions unit

      Correct Answer: Make a referral to the the paediatric outpatients clinic

      Explanation:

      A paediatrician should review children who fall below the 0.4th centile for height. Referral is the appropriate course of action as it is not an urgent matter. While waiting for the review, it is advisable to conduct thyroid function tests and insulin-like growth factor tests on the child.

      Understanding Growth and Factors Affecting It

      Growth is a significant aspect that distinguishes children from adults. It occurs in three stages: infancy, childhood, and puberty. Several factors affect fetal growth, including environmental, placental, hormonal, and genetic factors. Maternal nutrition and uterine capacity are the most crucial environmental factors that affect fetal growth.

      During infancy, nutrition and insulin are the primary drivers of growth. Insulin plays a significant role in fetal growth, as high levels of insulin in a mother with poorly controlled diabetes can result in hypoglycemia and macrosomia in the baby. In childhood, growth hormone and thyroxine drive growth, while in puberty, growth hormone and sex steroids are the primary drivers. Genetic factors are the most important determinant of final adult height.

      It is essential to monitor growth regularly to ensure that children are growing at a healthy rate. Infants aged 0-1 years should have at least five weight recordings, while children aged 1-2 years should have at least three weight recordings. Children older than two years should have annual weight recordings. Children below the 2nd centile for height should be reviewed by their GP, while those below the 0.4th centile for height should be reviewed by a paediatrician. Understanding growth and the factors that affect it is crucial for ensuring healthy development in children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 19 - A 2-year-old girl is brought to the pediatrician by her father due to...

    Incorrect

    • A 2-year-old girl is brought to the pediatrician by her father due to concerns about her breathing. The father reports that she has had a fever, cough, and runny nose for the past three days, and has been wheezing for the past 24 hours. On examination, the child has a temperature of 37.9ºC, a heart rate of 126/min, a respiratory rate of 42/min, and bilateral expiratory wheezing is noted. The pediatrician prescribes a salbutamol inhaler with a spacer. However, two days later, the father returns with the child, stating that the inhaler has not improved her wheezing. The child's clinical findings are similar, but her temperature is now 37.4ºC. What is the most appropriate next step in management?

      Your Answer: Oral prednisolone

      Correct Answer: Oral montelukast or inhaled corticosteroid

      Explanation:

      Child has viral-induced wheeze, treat with short-acting bronchodilator. If not successful, try oral montelukast or inhaled corticosteroids.

      Understanding and Managing preschool Wheeze in Children

      Wheeze is a common occurrence in preschool children, with around 25% experiencing it before they reach 18 months old. Viral-induced wheeze is now one of the most frequently diagnosed conditions in paediatric wards. However, there is still ongoing debate about how to classify wheeze in this age group and the most effective management strategies.

      The European Respiratory Society Task Force has proposed a classification system for preschool wheeze, dividing children into two groups: episodic viral wheeze and multiple trigger wheeze. Episodic viral wheeze occurs only during a viral upper respiratory tract infection and is symptom-free in between episodes. Multiple trigger wheeze, on the other hand, can be triggered by various factors, such as exercise, allergens, and cigarette smoke. While episodic viral wheeze is not associated with an increased risk of asthma in later life, some children with multiple trigger wheeze may develop asthma.

      To manage preschool wheeze, parents who smoke should be strongly encouraged to quit. For episodic viral wheeze, treatment is symptomatic, with short-acting beta 2 agonists or anticholinergic via a spacer as the first-line treatment. If symptoms persist, a trial of intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both may be recommended. Oral prednisolone is no longer considered necessary for children who do not require hospital treatment. For multiple trigger wheeze, a trial of inhaled corticosteroids or a leukotriene receptor antagonist (montelukast) for 4-8 weeks may be recommended.

      Overall, understanding the classification and management of preschool wheeze can help parents and healthcare professionals provide appropriate care for children experiencing this common condition.

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      • Paediatrics
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  • Question 20 - A 6-day-old baby boy is brought into the Emergency Department by his parents...

    Correct

    • A 6-day-old baby boy is brought into the Emergency Department by his parents due to his projectile vomiting and failure to thrive. You arrange a blood gas reading.
      What is the metabolic disorder likely to develop in this patient?

      Your Answer: Hypochloreamic metabolic alkalosis

      Explanation:

      Acid-Base Imbalance in Infantile Pyloric Stenosis

      Infantile pyloric stenosis is a condition that causes projectile vomiting on feeding in newborns. This condition leads to a specific type of acid-base imbalance known as hypochloremic metabolic alkalosis. The loss of hydrochloric acid due to persistent vomiting results in a high pH and bicarbonate level, and a low chloride level.

      The initial treatment for this condition involves resuscitation with sodium chloride, followed by surgical management once the chloride level has reached a near-normal level. It is important to note that persistent vomiting would not cause metabolic acidosis with respiratory compensation, hypochloremic acidosis, hyperchloremic acidosis, or hyperchloremic alkalosis. Therefore, prompt diagnosis and appropriate management are crucial in preventing complications associated with this condition.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 21 - A 6-year-old boy visits his GP with a productive cough and wheeze. During...

    Correct

    • A 6-year-old boy visits his GP with a productive cough and wheeze. During the examination, a 1/6 intensity systolic murmur is detected in the second intercostal space lateral to the left sternal edge. The murmur is not audible when the child lies flat. What is the most probable diagnosis?

      Your Answer: Innocent murmur

      Explanation:

      The innocent murmur is the correct answer. It is characterized by being soft, systolic, short, symptomless, and varying with position when standing or sitting. In contrast, coarctation of the aorta produces an ejection systolic murmur that can be heard through to the back and does not change with position. This condition is also associated with hypertension in the upper extremities and a difference in blood pressure between the arms and legs. Ventricular septal defect presents as a pansystolic murmur, while atrial septal defect is an ejection systolic murmur that is often accompanied by fixed splitting of the 2nd heart sound.

      Innocent murmurs are common in children and are usually harmless. There are different types of innocent murmurs, including ejection murmurs, venous hums, and Still’s murmur. Ejection murmurs are caused by turbulent blood flow at the outflow tract of the heart, while venous hums are due to turbulent blood flow in the great veins returning to the heart. Still’s murmur is a low-pitched sound heard at the lower left sternal edge.

      An innocent ejection murmur is characterized by a soft-blowing murmur in the pulmonary area or a short buzzing murmur in the aortic area. It may vary with posture and is localized without radiation. There is no diastolic component, no thrill, and no added sounds such as clicks. The child is usually asymptomatic, and there are no other abnormalities.

      Overall, innocent murmurs are not a cause for concern and do not require treatment. However, if a child has symptoms such as chest pain, shortness of breath, or fainting, further evaluation may be necessary to rule out any underlying heart conditions.

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      • Paediatrics
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  • Question 22 - A 2-week-old infant is presented to the clinic for evaluation. The baby was...

    Incorrect

    • A 2-week-old infant is presented to the clinic for evaluation. The baby was delivered at 38 weeks and has been breastfeeding without any issues. The mother reports that the baby seems excessively fatigued. During the assessment, a history is obtained, and some basic observations are documented. What would be an alarming observation?

      Your Answer: Respiratory rate 40 breaths per minute

      Correct Answer: Heart rate 90 beats per minute and regular

      Explanation:

      For infants to be considered healthy, their respiratory rate should fall within the range of 30-60 breaths per minute. Additionally, their pulse should be regular and fall between 100-160 beats per minute for newborns. Their body temperature should be around 37 Celsius, and they should have regular bowel movements and urination.

      Child Health Surveillance in the UK

      Child health surveillance in the UK involves a series of checks and tests to ensure the well-being of children from before birth to preschool age. During the antenatal period, healthcare professionals ensure that the baby is growing properly and check for any maternal infections that may affect the baby. An ultrasound scan is also performed to detect any fetal abnormalities, and blood tests are done to check for neural tube defects.

      After birth, a clinical examination of the newborn is conducted, and a hearing screening test is performed. The mother is given a Personal Child Health Record, which contains important information about the child’s health. Within the first month, a heel-prick test is done to check for hypothyroidism, PKU, metabolic diseases, cystic fibrosis, and medium-chain acyl Co-A dehydrogenase deficiency (MCADD). A midwife visit may also be conducted within the first four weeks.

      In the following months, health visitor input is provided, and a GP examination is done at 6-8 weeks. Routine immunisations are also given during this time. Ongoing monitoring of growth, vision, and hearing is conducted, and health professionals provide advice on immunisations, diet, and accident prevention.

      In preschool, a national orthoptist-led programme for preschool vision screening is set to be introduced. Overall, child health surveillance in the UK aims to ensure that children receive the necessary care and attention to promote their health and well-being.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 23 - As a healthcare professional in a bustling emergency department, a concerned mother rushes...

    Incorrect

    • As a healthcare professional in a bustling emergency department, a concerned mother rushes in with her 4-year-old son. The child has been crying excessively for the past 12 hours and has experienced bilious vomiting multiple times. Additionally, he passed a stool containing small amounts of blood about 2 hours ago. What initial investigation would you conduct to determine the probable diagnosis?

      Your Answer: X-Ray

      Correct Answer: Ultrasound

      Explanation:

      Intussusception is best diagnosed using ultrasound, which is the preferred method due to its non-invasive nature, patient comfort, and high sensitivity.

      Understanding Intussusception

      Intussusception is a medical condition that occurs when one part of the bowel folds into the lumen of the adjacent bowel, usually around the ileo-caecal region. This condition is most common in infants between 6-18 months old, with boys being affected twice as often as girls. The symptoms of intussusception include severe, crampy abdominal pain that comes and goes, inconsolable crying, vomiting, and blood stained stool, which is a late sign. During a paroxysm, the infant will typically draw their knees up and turn pale, and a sausage-shaped mass may be felt in the right upper quadrant.

      To diagnose intussusception, ultrasound is now the preferred method of investigation, as it can show a target-like mass. Treatment for intussusception involves reducing the bowel by air insufflation under radiological control, which is now widely used as a first-line treatment instead of the traditional barium enema. If this method fails, or the child shows signs of peritonitis, surgery is performed.

      In summary, intussusception is a medical condition that affects infants and involves the folding of one part of the bowel into the lumen of the adjacent bowel. It is characterized by severe abdominal pain, vomiting, and blood stained stool, among other symptoms. Ultrasound is the preferred method of diagnosis, and treatment involves reducing the bowel by air insufflation or surgery if necessary.

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      • Paediatrics
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  • Question 24 - A 6-year-old girl presents to the GP clinic complaining of abdominal pain that...

    Correct

    • A 6-year-old girl presents to the GP clinic complaining of abdominal pain that has been ongoing for 3 days. She has been eating and drinking normally, has no urinary symptoms, and her bowel habits have not changed. She had a mild cold last week, but it has since resolved. Other than this, she is a healthy and happy child. On examination, her abdomen is soft but tender to the touch throughout. Her temperature is 37.5 degrees Celsius. Her chest is clear, and her heart sounds are normal. What is the most probable cause of this girl's abdominal pain?

      Your Answer: Mesenteric adenitis

      Explanation:

      The child is experiencing abdominal pain after a recent viral illness, which is a common precursor to mesenteric adenitis. However, the child is still able to eat and drink normally, indicating that it is unlikely to be appendicitis. Additionally, the child is passing normal stools, making constipation an unlikely cause. The absence of vomiting also makes gastroenteritis an unlikely diagnosis. While abdominal migraine is a possibility, it is less likely than mesenteric adenitis in this particular case.

      Mesenteric adenitis refers to the inflammation of lymph nodes located in the mesentery. This condition can cause symptoms that are similar to those of appendicitis, making it challenging to differentiate between the two. Mesenteric adenitis is commonly observed after a recent viral infection and typically does not require any treatment.

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      • Paediatrics
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  • Question 25 - A 14-year-old girl presents with increased urinary frequency and thirst. Her initial observations...

    Incorrect

    • A 14-year-old girl presents with increased urinary frequency and thirst. Her initial observations and clinical examination revealed no abnormalities. On initial blood tests, the only abnormalities found are a urea of 10.5 mmol/l (normal range 2.5–6.5 mmol/l) and a borderline serum osmolality of 270 mOsmol/kg (normal range 270–295 mOsmol/kg). She subsequently had water deprivation testing. Time Investigation Result Normal range 0 hours Serum osmolality 270 mOsmol/kg 270–295 mOsmol/kg 4 hours – testing stopped Serum osmolality Urine osmolality 300 mOsmol/kg 285 mOsmol/kg 270–295 mOsmol/kg 350–1000 mOsmol/kg After administration of desmopressin Urine osmolality 287 mOsmol/kg 350–1000 mOsmol/kg. What is the most likely diagnosis based on the investigative results?

      Your Answer: Cranial diabetes insipidus

      Correct Answer: Nephrogenic diabetes insipidus

      Explanation:

      Understanding Nephrogenic Diabetes Insipidus: Differentiating it from Primary Polydipsia and Cranial Diabetes Insipidus

      Nephrogenic diabetes insipidus (DI) is a condition where the nephron fails to concentrate urine despite adequate levels of antidiuretic hormone (ADH) due to insensitivity of the ADH receptors. In contrast, primary polydipsia is characterized by normal ADH secretion and renal sensitivity to ADH, but compulsive water consumption leading to polyuria. Cranial diabetes insipidus, on the other hand, is caused by impaired ADH secretion.

      To differentiate between these conditions, a water deprivation test is conducted. In nephrogenic DI, after eight hours of water deprivation, serum osmolality increases while urine osmolality remains low. Administering 2 μg desmopressin has no effect as the ADH receptors remain insensitive. In primary polydipsia, ADH secretion increases during water deprivation, resulting in retention of water by the kidneys, leading to normal serum osmolality and increased urine osmolality. In cranial diabetes insipidus, serum osmolality increases after water deprivation, but administration of desmopressin should result in a return to normal serum osmolality and a concurrent rise in urine osmolality.

      In cases where the water deprivation test shows abnormal results, further testing may be required. However, in the case of nephrogenic DI, the abnormal results indicate impairment in osmolality regulation due to insensitivity of the renal ADH receptors.

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      • Paediatrics
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  • Question 26 - A 35 year old pregnant woman undergoes routine pregnancy screening blood tests and...

    Incorrect

    • A 35 year old pregnant woman undergoes routine pregnancy screening blood tests and is found to have an elevated alpha-fetoprotein level. This prompts investigation with ultrasound scanning. The scan reveals a fetus with an anterior abdominal wall defect and mass protruding through, which appears to still be covered with an amniotic sac. What is the standard course of action for managing this condition, based on the probable diagnosis?

      Your Answer: Caesarian section and immediate repair

      Correct Answer: Caesarian section and staged repair

      Explanation:

      If a fetus is diagnosed with exomphalos, a caesarean section is recommended to lower the risk of sac rupture. Elevated levels of alpha-fetoprotein may indicate abdominal wall defects. The appropriate course of action is a caesarian section with staged repair, as this reduces the risk of sac rupture and surgery is not urgent. Immediate repair during caesarian section would only be necessary if the sac had ruptured. Vaginal delivery with immediate repair is only recommended for gastroschisis, as immediate surgery is required due to the lack of a protective sac. Therefore, the other two options are incorrect.

      Gastroschisis and exomphalos are both types of congenital visceral malformations. Gastroschisis refers to a defect in the anterior abdominal wall located just beside the umbilical cord. In contrast, exomphalos, also known as omphalocele, involves the protrusion of abdominal contents through the anterior abdominal wall, which are covered by an amniotic sac formed by amniotic membrane and peritoneum.

      When it comes to managing gastroschisis, vaginal delivery may be attempted, but newborns should be taken to the operating theatre as soon as possible after delivery, ideally within four hours. As for exomphalos, a caesarean section is recommended to reduce the risk of sac rupture. In cases where primary closure is difficult due to lack of space or high intra-abdominal pressure, a staged repair may be undertaken. This involves allowing the sac to granulate and epithelialise over several weeks or months, forming a shell. As the infant grows, the sac contents will eventually fit within the abdominal cavity, at which point the shell can be removed and the abdomen closed.

      Overall, both gastroschisis and exomphalos require careful management to ensure the best possible outcome for the newborn. By understanding the differences between these two conditions and the appropriate steps to take, healthcare professionals can provide effective care and support to both the infant and their family.

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      • Paediatrics
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  • Question 27 - A 3-year-old girl is brought to her pediatrician due to frequent respiratory infections...

    Correct

    • A 3-year-old girl is brought to her pediatrician due to frequent respiratory infections that have resulted in hospitalization. Her parents have also noticed a decrease in her weight from the 50th to the 25th percentile on the growth chart. She was born at term with a normal birth weight. During the physical examination, the pediatrician observes the presence of nasal polyps. What is the probable underlying condition?

      Your Answer: Cystic fibrosis

      Explanation:

      Consideration of cystic fibrosis is warranted when a child experiences recurrent serious respiratory tract infections and weight loss, particularly if nasal polyps are present. While bronchiolitis may lead to hospitalisations and potential weight loss due to poor feeding, it is not associated with nasal polyps. Bronchopulmonary dysplasia typically affects premature infants with low birth weights and is not linked to nasal polyps. Neglect is not a factor in this scenario, and the presence of nasal polyps suggests an underlying medical condition.

      Cystic Fibrosis: Symptoms and Characteristics

      Cystic fibrosis is a genetic disorder that affects various organs in the body, particularly the lungs and digestive system. The symptoms of cystic fibrosis can vary from person to person, but there are some common features that are often present. In the neonatal period, around 20% of infants with cystic fibrosis may experience meconium ileus, which is a blockage in the intestine caused by thick, sticky mucous. Prolonged jaundice may also occur, but less commonly. Recurrent chest infections are a common symptom, affecting around 40% of patients. Malabsorption is another common feature, with around 30% of patients experiencing steatorrhoea (excessive fat in the stool) and failure to thrive. Liver disease may also occur in around 10% of patients.

      It is important to note that while many patients are diagnosed with cystic fibrosis during newborn screening or early childhood, around 5% of patients are not diagnosed until after the age of 18. Other features of cystic fibrosis may include short stature, diabetes mellitus, delayed puberty, rectal prolapse (due to bulky stools), nasal polyps, male infertility, and female subfertility. Overall, the symptoms and characteristics of cystic fibrosis can vary widely, but early diagnosis and treatment can help manage the condition and improve quality of life.

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      • Paediatrics
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  • Question 28 - A 3-year-old child has a 24-hour history of being generally unwell with a...

    Correct

    • A 3-year-old child has a 24-hour history of being generally unwell with a barking cough. Their parent says they make a loud noise when they breathe in and their symptoms are worse at night. They have a temperature of 38.5 °C.
      What is the most probable diagnosis?

      Your Answer: Croup

      Explanation:

      Differential Diagnosis for a Child with Inspiratory Stridor and Barking Cough

      Croup is a common respiratory illness in children under 2 years old, characterized by inspiratory stridor and a barking cough. Other symptoms include hoarseness, fever, and dyspnea, which are usually worse at night. The illness can last up to 7 days, with the first 24-48 hours being the most severe.

      Asthma, on the other hand, presents differently with wheezing and chest tightness, rather than inspiratory stridor. While shortness of breath, especially at night, is a common symptom, it does not account for the fever.

      Simple viral cough is a possible differential, but the absence of other systemic symptoms makes croup more likely.

      Whooping cough is not indicated by this history.

      Bronchiolitis usually presents less acutely, with difficulty feeding and general malaise during the incubation period, followed by dyspnea and wheezing. Therefore, it is less likely to be the cause of the child’s symptoms.

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      • Paediatrics
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  • Question 29 - A 4-week-old boy has been experiencing vomiting after feeds. His mother reports that...

    Correct

    • A 4-week-old boy has been experiencing vomiting after feeds. His mother reports that he is extremely hungry, but shortly after consuming food, he has an episode of projectile vomiting. The vomit does not contain blood, bile or feces. Upon examination, a mass is detected in the epigastrium that is approximately the size of a small grape.
      What is the most probable diagnosis?

      Your Answer: Infantile pyloric stenosis

      Explanation:

      Common Congenital Abnormalities of the Gastrointestinal Tract in Infants

      Infants can experience various congenital abnormalities of the gastrointestinal tract, which can lead to serious health complications. Here are some of the most common abnormalities and their characteristics:

      Infantile Pyloric Stenosis
      This condition occurs due to hypertrophy and hyperplasia of the pyloric muscle, leading to obstruction of the gastric outlet. Symptoms include non-bilious projectile vomiting within half an hour from feeding and failure to thrive. Diagnosis is via ultrasound, and treatment involves Ramstedt pyloromyotomy.

      Meckel’s Diverticulum
      This is the most common congenital abnormality of the small intestine, caused by persistence of the vitelline duct. Patients are usually asymptomatic, but can present with painless rectal bleeding, signs of obstruction, or acute appendicitis-like symptoms. Treatment involves excision of the diverticulum and adjacent ileal segment.

      Malrotation of the Small Intestine with Volvulus
      This occurs due to disrupted development of the bowel during the embryonic period. It can present acutely as a volvulus with abdominal pain and bilious vomiting. Treatment involves surgical intervention.

      Hirschsprung’s Disease
      This is a congenital disorder caused by absent ganglia in the distal colon, resulting in functional obstruction. Infants present within the first 48 hours of life, having not passed meconium. Diagnosis is via rectal biopsy, and treatment involves surgical intervention.

      Imperforate Anus
      This is a congenital malformation occurring with an incidence of 1 in 5000 births. Infants may have abdominal distension and fail to produce meconium. Treatment involves intravenous hydration and surgical evaluation.

      In conclusion, early diagnosis and prompt treatment of these congenital abnormalities are crucial for the health and well-being of infants.

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      • Paediatrics
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  • Question 30 - A 14-year-old girl presents to her GP with concerns about not having started...

    Correct

    • A 14-year-old girl presents to her GP with concerns about not having started her periods. She has also not developed any other secondary sexual characteristics. Upon examination, she is found to be proportionate but notably short in stature. Additionally, she has wide-spaced nipples, low-set ears, and subtle neck webbing. What is the most likely diagnosis for this patient?

      Your Answer: Aortic coarctation

      Explanation:

      Individuals with Turner’s syndrome (XO) often exhibit physical characteristics such as a webbed neck, low set ears, and widely spaced nipples. Short stature and primary amenorrhea are common, along with a degree of puberty failure. Other physical features to look for include a wide carrying angle, down-sloping eyes with partial ptosis, and a low posterior hairline. Turner’s syndrome is frequently linked to aortic coarctation and bicuspid aortic valve, while other cardiac abnormalities may be associated with different genetic conditions.

      Understanding Turner’s Syndrome

      Turner’s syndrome is a genetic disorder that affects approximately 1 in 2,500 females. It is caused by the absence of one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. This condition is denoted as 45,XO or 45,X.

      The features of Turner’s syndrome include short stature, a shield chest with widely spaced nipples, a webbed neck, a bicuspid aortic valve (15%), coarctation of the aorta (5-10%), primary amenorrhea, cystic hygroma (often diagnosed prenatally), a high-arched palate, a short fourth metacarpal, multiple pigmented naevi, lymphoedema in neonates (especially feet), and elevated gonadotrophin levels. Hypothyroidism is much more common in Turner’s syndrome, and there is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease.

      In summary, Turner’s syndrome is a chromosomal disorder that affects females and can cause a range of physical features and health issues. Early diagnosis and management can help individuals with Turner’s syndrome lead healthy and fulfilling lives.

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      • Paediatrics
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