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Question 1
Incorrect
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A 6-month-old baby girl starts to experience frequent vomiting after feedings. Prior to this, she had been growing at a steady rate. What is the probable diagnosis?
Your Answer: Hirschsprung’s disease
Correct Answer: Pyloric stenosis
Explanation:Common Neonatal Gastrointestinal Disorders
There are several common gastrointestinal disorders that can affect newborns. These include pyloric stenosis, necrotising enterocolitis (NEC), congenital duodenal atresia, Hirschsprung’s disease, and tracheoesophageal fistula (TOF).
Pyloric stenosis is characterised by hypertrophy of the circular pyloric muscle, and typically presents with non-bilious, projectile vomiting in the third or fourth week of life. Constipation and dehydration may also occur, and biochemistry may show hypokalaemic metabolic alkalosis. Boys are more likely to be affected, especially if born into a family with affected girls.
NEC is a condition primarily seen in premature infants, where portions of the bowel undergo necrosis. Symptoms include bilious vomiting, distended abdomen, and bloody stools, with late signs including bowel perforation and multi-organ failure.
Congenital duodenal atresia is a congenital absence or complete closure of a portion of the lumen of the duodenum, and presents with bile-stained vomiting, abdominal distension, and inability to pass meconium.
Hirschsprung’s disease is characterised by the failure of ganglion cells to migrate into the hindgut, leading to functional intestinal obstruction. Symptoms include abdominal distension, bile-stained vomiting, and failure to pass meconium.
TOF refers to a communication between the trachea and oesophagus, usually associated with oesophageal atresia. Symptoms include choking, coughing, and cyanosis during feeding, excess mucus, and recurrent lower respiratory tract infections. Other congenital anomalies may also be present.
Overall, early recognition and management of these neonatal gastrointestinal disorders is crucial for optimal outcomes.
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This question is part of the following fields:
- Paediatrics
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Question 2
Incorrect
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A 2-year-old girl is brought to the GP by her mother due to a new rash. The mother is worried as the rash appeared suddenly just 1 day ago. The child had a cold with a high fever 3 weeks ago, but has since recovered. Apart from that, the child is healthy and active.
During the examination, an erythematous rash is observed on the child's trunk and limbs. The rash does not seem to be causing any itching and disappears when pressure is applied.
What is the most probable diagnosis?Your Answer:
Correct Answer: Roseola infantum
Explanation:What is the classical history of roseola infantum and how does it differ from other childhood rashes?
Roseola infantum is a common viral illness that typically affects children between 6 months and 2 years of age. It is characterized by a high fever that is followed 1-2 weeks later by an erythematous rash across the trunk and limbs. Febrile seizures are also common with this illness.
Measles, on the other hand, presents with an erythematous rash that starts behind the ears and spreads to the rest of the body. It is associated with fever, conjunctivitis, coryzal symptoms, and white koplik spots on the inside of the mouth.
Parvovirus B19, also known as slapped cheek disease, is characterized by a rash that first appears on the cheeks before spreading to the trunk and arms. It is usually preceded by 2-5 days of mild fever and non-specific viral symptoms.
Rubella presents with an erythematous rash that starts on the face and spreads to the rest of the body. It is associated with mild fever, sore throat, and lymphadenopathy.
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.
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This question is part of the following fields:
- Paediatrics
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Question 3
Incorrect
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A 4-year-old child is rushed to the emergency department due to severe breathing difficulties caused by croup. The child was given oral dexamethasone by the GP earlier in the day. Upon examination, the child's oxygen saturation is at 89% on room air and there is noticeable intercostal recession. What emergency treatment should be administered to the child?
Your Answer:
Correct Answer: Oxygen + nebulised adrenaline
Explanation: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.
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This question is part of the following fields:
- Paediatrics
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Question 4
Incorrect
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What is a factor that leads to cyanotic congenital heart disease?
Your Answer:
Correct Answer: Transposition of the great arteries
Explanation:Congenital heart disease can be categorized into two types: acyanotic and cyanotic. Acyanotic heart diseases are more common and include ventricular septal defects (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), coarctation of the aorta, and aortic valve stenosis. VSD is the most common acyanotic heart disease, accounting for 30% of cases. ASDs are less common than VSDs, but they are more frequently diagnosed in adult patients as they tend to present later. On the other hand, cyanotic heart diseases are less common and include tetralogy of Fallot, transposition of the great arteries (TGA), and tricuspid atresia. Fallot’s is more common than TGA, but TGA is the more common lesion at birth as patients with Fallot’s generally present at around 1-2 months. The presence of cyanosis in pulmonary valve stenosis depends on the severity and any other coexistent defects.
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This question is part of the following fields:
- Paediatrics
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Question 5
Incorrect
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A 12-month-old boy is brought into morning surgery by a concerned first-time mother. She reports several episodes of her baby crying inconsolably and drawing his legs towards his chest since last night. Today he passed some bright red jelly-like blood in his nappy without any stool.
Which of the following is the likely cause?
Your Answer:
Correct Answer: Intussusception
Explanation:Understanding Intussusception: A Common Cause of Abdominal Pain in Children
Intussusception is a medical condition where one segment of the bowel invaginates into another, causing obstruction and compromise to the blood supply of that part of the bowel. This can lead to symptoms such as colicky abdominal pains, vomiting, and passing of redcurrant stools. It is a common cause of abdominal pain in children and requires immediate medical attention.
Gastroenteritis, appendicitis, constipation, and volvulus are all conditions that can cause abdominal pain in children, but they are not likely to present with the specific symptoms of intussusception. Any child with suspected intussusception should be admitted to the hospital immediately for further investigation and observation.
Understanding the symptoms and causes of intussusception can help parents and caregivers recognize the condition and seek prompt medical attention for their child.
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This question is part of the following fields:
- Paediatrics
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Question 6
Incorrect
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As a foundation doctor on the neonatal ward, you consult with your supervisor regarding a patient who is five days old and displaying symptoms of cyanosis, tachypnoea, and weak peripheral pulses. Your suspicion is that the patient has a duct dependent cardiac lesion. Once this is confirmed, what would be the most suitable course of treatment?
Your Answer:
Correct Answer: Prostaglandins
Explanation:Prostaglandins can maintain the patency of a patent ductus arteriosus, which can be beneficial in cases of duct dependent cardiac lesions such as tetralogy of Fallot, Ebstein’s anomaly, pulmonary atresia, and pulmonary stenosis. These conditions may be diagnosed before birth or present with symptoms such as cyanosis, tachypnea, and weak peripheral pulses at birth. While surgery is often the definitive treatment, keeping the duct open with prostaglandins can provide time for appropriate management planning. Aspirin is not recommended for children due to the risk of Reyes syndrome, which can cause liver and brain edema and be fatal. Indomethacin and other medications may also be used to close the duct.
Patent ductus arteriosus is a type of congenital heart defect that is typically classified as ‘acyanotic’. However, if left untreated, it can eventually lead to late cyanosis in the lower extremities, which is known as differential cyanosis. This condition is caused by a connection between the pulmonary trunk and descending aorta that fails to close with the first breaths due to increased pulmonary flow that enhances prostaglandins clearance. Patent ductus arteriosus is more common in premature babies, those born at high altitude, or those whose mothers had rubella infection during the first trimester of pregnancy.
The features of patent ductus arteriosus include a left subclavicular thrill, a continuous ‘machinery’ murmur, a large volume, bounding, collapsing pulse, a wide pulse pressure, and a heaving apex beat. To manage this condition, indomethacin or ibuprofen is given to the neonate, which inhibits prostaglandin synthesis and closes the connection in the majority of cases. If patent ductus arteriosus is associated with another congenital heart defect that is amenable to surgery, then prostaglandin E1 is useful to keep the duct open until after surgical repair.
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This question is part of the following fields:
- Paediatrics
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Question 7
Incorrect
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A 12-year-old girl has excessive bleeding after an adenotonsillectomy for recurrent tonsillitis. Physical examination reveals no abnormalities. The girl's grandmother died of a postoperative bleeding complication at a young age.
Which of the following is the most important investigation to establish a diagnosis?Your Answer:
Correct Answer: Factor VIII assay
Explanation:Diagnostic Tests for Haemophilia: Factor VIII Assay, Prothrombin Time/INR, Platelet Count, Bone Marrow Examination, and Blood Film
Haemophilia is an X-linked bleeding disorder caused by deficiency of clotting factor VIII (haemophilia A) or factor IX (haemophilia B). Patients may present with bruising, inadequate clotting with mild injury, or spontaneous haemorrhage. To diagnose haemophilia A, a factor VIII assay is necessary. Other diagnostic tests include prothrombin time/INR, platelet count, bone marrow examination, and blood film. The prothrombin time and platelet count are normal in haemophilia, while bone marrow sampling carries a risk of significant bleeding. A blood film is not useful in the diagnosis as red blood cells and platelet count are normal.
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This question is part of the following fields:
- Paediatrics
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Question 8
Incorrect
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A 10-year-old boy is being seen in the paediatric asthma clinic for a review of his asthma. He was diagnosed with asthma 6 months ago and has been using a salbutamol 100mcg metered dose inhaler with a spacer. According to his mother, he has been using his inhaler about 4 times a week and has had 1 episode of waking up at night with difficulty breathing. There have been no recent respiratory infections or changes in his environment. On examination, he appears to be in good health. His inhaler technique is satisfactory. Do you recommend any changes to his asthma medication?
Your Answer:
Correct Answer: Paediatric low-dose ICS
Explanation:Managing Asthma in Children: NICE Guidelines
Asthma management in children has been updated by NICE in 2017, following the 2016 BTS guidelines. The new guidelines for children aged 5-16 are similar to those for adults, with a stepwise approach for treatment. For newly-diagnosed asthma, short-acting beta agonist (SABA) is recommended. If symptoms persist, a combination of SABA and paediatric low-dose inhaled corticosteroid (ICS) is used. Leukotriene receptor antagonist (LTRA) is added if symptoms still persist, followed by long-acting beta agonist (LABA) if necessary. Maintenance and reliever therapy (MART) is used as a combination of ICS and LABA for daily maintenance therapy and symptom relief. For children under 5 years old, clinical judgement plays a greater role in diagnosis. The stepwise approach is similar to that for older children, with an 8-week trial of paediatric moderate-dose ICS before adding LTRA. If symptoms persist, referral to a paediatric asthma specialist is recommended.
It should be noted that NICE does not recommend changing treatment for well-controlled asthma patients simply to adhere to the latest guidelines. The definitions of low, moderate, and high-dose ICS have also changed, with different definitions for adults and children. For children, <= 200 micrograms budesonide or equivalent is considered a paediatric low dose, 200-400 micrograms is a moderate dose, and > 400 micrograms is a high dose. Overall, the new NICE guidelines provide a clear and concise approach to managing asthma in children.
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This question is part of the following fields:
- Paediatrics
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Question 9
Incorrect
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You are called to attend a premature delivery. The neonate is born at 34 weeks gestation via emergency Caesarean section. The neonate is having trouble starting to breathe and needs resuscitation. They are dyspnoeic and tachypnoeic at a rate of 85 breaths/min. Upon listening to the chest, there is decreased breath sounds on both sides. Heart sounds are displaced towards the middle. The abdominal wall looks sunken. What is the probable diagnosis?
Your Answer:
Correct Answer: Congenital diaphragmatic hernia
Explanation:The appearance of a scaphoid abdomen is a common presentation of congenital diaphragmatic hernia, which occurs when abdominal contents protrude into the chest cavity. This condition can cause breathing difficulties and rapid breathing in newborns. The characteristic auscultation findings are caused by underdeveloped lungs and compression due to the presence of abdominal organs in the chest. Immediate medical attention and respiratory support are necessary. It is important to note that this specific concave abdominal appearance is not seen in any other conditions mentioned.
Understanding Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) is a rare condition that affects approximately 1 in 2,000 newborns. It occurs when the diaphragm, a muscle that separates the chest and abdominal cavities, fails to form completely during fetal development. As a result, abdominal organs can move into the chest cavity, which can lead to underdeveloped lungs and high blood pressure in the lungs. This can cause respiratory distress shortly after birth.
The most common type of CDH is a left-sided posterolateral Bochdalek hernia, which accounts for about 85% of cases. This type of hernia occurs when the pleuroperitoneal canal, a structure that connects the chest and abdominal cavities during fetal development, fails to close properly.
Despite advances in medical treatment, only about 50% of newborns with CDH survive. Early diagnosis and prompt treatment are crucial for improving outcomes. Treatment may involve surgery to repair the diaphragm and move the abdominal organs back into their proper position. In some cases, a ventilator or extracorporeal membrane oxygenation (ECMO) may be necessary to support breathing until the lungs can function properly. Ongoing care and monitoring are also important to manage any long-term complications that may arise.
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This question is part of the following fields:
- Paediatrics
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Question 10
Incorrect
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Sophie is a premature baby (28 weeks) who was born 3 weeks ago. During the past week, she has been experiencing bloody stools, abdominal distension, and poor feeding. Upon physical examination, there is an increase in abdominal size with decreased bowel sounds. An abdominal X-ray reveals asymmetrical bowel loops that are dilated and have bowel wall oedema. What is the probable diagnosis?
Your Answer:
Correct Answer: Necrotising enterocolitis
Explanation: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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This question is part of the following fields:
- Paediatrics
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Question 11
Incorrect
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What is a cause of acyanotic congenital heart disease?
Your Answer:
Correct Answer: Coarctation of the aorta
Explanation:Coarctation of the aorta does not cause cyanosis.
Congenital heart disease can be categorized into two types: acyanotic and cyanotic. Acyanotic heart diseases are more common and include ventricular septal defects (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), coarctation of the aorta, and aortic valve stenosis. VSD is the most common acyanotic heart disease, accounting for 30% of cases. ASDs are less common than VSDs, but they are more frequently diagnosed in adult patients as they tend to present later. On the other hand, cyanotic heart diseases are less common and include tetralogy of Fallot, transposition of the great arteries (TGA), and tricuspid atresia. Fallot’s is more common than TGA, but TGA is the more common lesion at birth as patients with Fallot’s generally present at around 1-2 months. The presence of cyanosis in pulmonary valve stenosis depends on the severity and any other coexistent defects.
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This question is part of the following fields:
- Paediatrics
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Question 12
Incorrect
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A 14-year-old girl arrives at the clinic with her mother. She is asking for the combined oral contraceptive (COC) pill as she has recently started a relationship with a 19-year-old man whom she met at a local coffee shop, but they have not yet engaged in sexual activity. During the consultation, you discuss the age difference, but the mother assures you that she has met the boyfriend and believes he treats her daughter well. Both the girl and her mother insist that they do not want anyone else involved. What is the most appropriate course of action?
Your Answer:
Correct Answer: Immediately phone local child protection lead and refer to social services
Explanation:According to the GMC guidelines, sexual intercourse with children below the age of 13 cannot be considered consensual, and therefore, any sexual activity would be classified as rape. In such cases, breaking confidentiality is mandatory.
Guidelines for Obtaining Consent in Children
The General Medical Council has provided guidelines for obtaining consent in children. According to these guidelines, young people who are 16 years or older can be treated as adults and are presumed to have the capacity to make decisions. However, for children under the age of 16, their ability to understand what is involved determines whether they have the capacity to decide. If a competent child refuses treatment, a person with parental responsibility or the court may authorize investigation or treatment that is in the child’s best interests.
When it comes to providing contraceptives to patients under 16 years of age, the Fraser Guidelines must be followed. These guidelines state that the young person must understand the professional’s advice, cannot be persuaded to inform their parents, is likely to begin or continue having sexual intercourse with or without contraceptive treatment, and will suffer physical or mental health consequences without contraceptive treatment. Additionally, the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent.
Some doctors use the term Fraser competency when referring to contraception and Gillick competency when referring to general issues of consent in children. However, rumors that Victoria Gillick removed her permission to use her name or applied copyright have been debunked. It is important to note that in Scotland, those with parental responsibility cannot authorize procedures that a competent child has refused.
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This question is part of the following fields:
- Paediatrics
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Question 13
Incorrect
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A newborn girl born 4 hours ago has an APGAR score of 10. She is not cyanosed, has a pulse of 150, cries on stimulation, her arms and legs resist extension and she has a good cry. However, she appears jaundiced. What should be done in this situation?
Your Answer:
Correct Answer: Measure and record the serum bilirubin level urgently.
Explanation: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.
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This question is part of the following fields:
- Paediatrics
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Question 14
Incorrect
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A 16-year-old girl comes to see her doctor because she has not yet begun menstruating. During the physical examination, you observe that she has a short stature and a webbed neck. What would you anticipate hearing when listening to her heart?
Your Answer:
Correct Answer: Ejection systolic murmur
Explanation:The ejection systolic murmur present in this patient is likely due to her Turner’s syndrome, which is associated with a bicuspid aortic valve. A continuous machinery murmur, late systolic murmur, and mid-late diastolic murmur are less likely causes, as they are associated with different conditions that are not commonly seen in patients with Turner’s syndrome.
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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This question is part of the following fields:
- Paediatrics
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Question 15
Incorrect
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A toddler is brought to the emergency department by a worried parent. The parent reports that the child was violently shaken by the caregiver. The paediatricians on duty observe retinal haemorrhages and suspect encephalopathy. What was identified on the CT head to complete the triad of features of Shaken Baby Syndrome?
Your Answer:
Correct Answer: Subdural haematoma
Explanation:The combination of retinal haemorrhages, subdural haematoma, and encephalopathy is known as the triad of symptoms associated with Shaken Baby Syndrome. The tearing of fragile bridging cerebral veins in infants is believed to be the cause of subdural haematomas, which are the most common and typical intracranial manifestation of this syndrome.
Understanding Shaken Baby Syndrome
Shaken baby syndrome is a condition that involves a combination of retinal haemorrhages, subdural haematoma, and encephalopathy. It occurs when a child between the ages of 0-5 years old is intentionally shaken. However, there is controversy among physicians regarding the mechanism of injury, making it difficult for courts to convict suspects of causing shaken baby syndrome to a child. This condition has made headlines due to the ongoing debate among medical professionals.
Shaken baby syndrome is a serious condition that can cause long-term damage to a child’s health. It is important to understand the signs and symptoms of this condition to ensure that children are protected from harm. While the controversy surrounding the diagnosis of shaken baby syndrome continues, it is crucial to prioritize the safety and well-being of children. By raising awareness and educating the public about this condition, we can work towards preventing it from occurring in the future.
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This question is part of the following fields:
- Paediatrics
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Question 16
Incorrect
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What is the likelihood of a 44-year-old mother having a child with Down's syndrome?
Your Answer:
Correct Answer: 1 in 50
Explanation:The risk of Down’s syndrome is 1 in 1,000 at the age of 30, and this risk decreases by a factor of 3 for every 5 years.
Down’s Syndrome: Epidemiology and Genetics
Down’s syndrome is a genetic disorder that occurs when there is an extra copy of chromosome 21. The risk of having a child with Down’s syndrome increases with maternal age. At 20 years old, the risk is 1 in 1,500, but by 45 years old, the risk increases to 1 in 50 or greater. To remember this, one can start with a risk of 1/1,000 at 30 years old and divide the denominator by 3 for every extra 5 years of age.
There are three main types of Down’s syndrome: nondisjunction, Robertsonian translocation, and mosaicism. Nondisjunction accounts for 94% of cases and occurs when the chromosomes fail to separate properly during cell division. The risk of recurrence is 1 in 100 if the mother is under 35 years old. Robertsonian translocation occurs when part of chromosome 21 attaches to another chromosome, usually chromosome 14. This accounts for 5% of cases and has a higher risk of recurrence if the mother or father is a carrier. Mosaicism accounts for 1% of cases and occurs when there are two genetically different populations of cells in the body.
In summary, Down’s syndrome is a genetic disorder that is more common with increasing maternal age. The risk of recurrence depends on the type of Down’s syndrome and whether the parents are carriers. It is important for individuals to understand the genetics and epidemiology of Down’s syndrome to make informed decisions about family planning.
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This question is part of the following fields:
- Paediatrics
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Question 17
Incorrect
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As a foundation doctor on the postnatal ward, you conduct a newborn examination (NIPE) on a twenty-five hour old baby girl delivered via forceps. During the examination, you observe that the anterior fontanelle is soft but small, and the bones overlap at the sutures. The mother inquires about what she should do in this situation.
Your Answer:
Correct Answer: No intervention required but document clearly
Explanation:It is common for newborns to have positional head molding, which is considered a normal occurrence. However, it is important to document this for review by the general practitioner during the six to eight week baby check. In cases where there is persistent head shape deformity, cranial orthosis (head helmets) may be used, but it is unlikely to be necessary. Physiotherapy can be considered if there is also torticollis. It is important to note that surgical intervention is not appropriate as this is a normal finding.
Common Skull Problems in Children
Two common skull problems in children are plagiocephaly and craniosynostosis. Plagiocephaly is when a child’s head becomes parallelogram-shaped due to flattening on one side. The incidence of plagiocephaly has increased over the past decade, which may be due to the success of the ‘Back to Sleep’ campaign that encourages parents to put their babies to sleep on their backs to reduce the risk of sudden infant death syndrome (SIDS). Craniosynostosis, on the other hand, is the premature fusion of skull bones. This can lead to abnormal head shape and potentially affect brain development. Both plagiocephaly and craniosynostosis require medical attention and treatment.
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This question is part of the following fields:
- Paediatrics
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Question 18
Incorrect
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A newly born infant is diagnosed with gastroschisis and has exposed bowel. The mother is concerned about potential complications besides fluid loss.
Your Answer:
Correct Answer: Heat loss
Explanation:Exposed bowel in babies with gastroschisis leads to a considerable loss of fluid and heat, which can pose a serious risk to their lives. Unlike exomphalos, gastroschisis is not associated with cardiac and renal issues. Additionally, there is no correlation between gastroschisis and microcephaly or macrocephaly.
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 omphalocoele, 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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This question is part of the following fields:
- Paediatrics
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Question 19
Incorrect
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A 10-year-old girl is brought to the emergency room due to worsening asthma symptoms over the past 48 hours. Her parents are worried that her breathing is not improving with the usual inhaled salbutamol treatment. What signs indicate a potentially life-threatening asthma attack?
Your Answer:
Correct Answer: Quiet breath sounds on auscultation
Explanation:The absence of bilateral wheezing and presence of quiet breath sounds in a child with asthma is a concerning sign, as it may indicate a severe asthma attack that could be life-threatening.
Assessing Acute Asthma Attacks in Children
When assessing the severity of asthma attacks in children, the 2016 BTS/SIGN guidelines recommend using specific criteria. These criteria can help determine whether the attack is severe or life-threatening. For a severe attack, the child may have a SpO2 level below 92%, a PEF level between 33-50% of their best or predicted, and may be too breathless to talk or feed. Additionally, their heart rate may be over 125 (for children over 5 years old) or over 140 (for children between 1-5 years old), and their respiratory rate may be over 30 breaths per minute (for children over 5 years old) or over 40 (for children between 1-5 years old). They may also be using accessory neck muscles to breathe.
For a life-threatening attack, the child may have a SpO2 level below 92%, a PEF level below 33% of their best or predicted, and may have a silent chest, poor respiratory effort, agitation, altered consciousness, or cyanosis. It is important for healthcare professionals to be aware of these criteria and to take appropriate action to manage the child’s asthma attack. By following these guidelines, healthcare professionals can help ensure that children with asthma receive the appropriate care and treatment they need during an acute attack.
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This question is part of the following fields:
- Paediatrics
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Question 20
Incorrect
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Which of the following conditions is not screened for in the blood spot screening test for infants?
Your Answer:
Correct Answer: Galactosaemia
Explanation:Neonatal Blood Spot Screening: Identifying Potential Health Risks in Newborns
Neonatal blood spot screening, also known as the Guthrie test or heel-prick test, is a routine procedure performed on newborns between 5-9 days of life. The test involves collecting a small sample of blood from the baby’s heel and analyzing it for potential health risks. Currently, there are nine conditions that are screened for, including congenital hypothyroidism, cystic fibrosis, sickle cell disease, phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), and homocystinuria (pyridoxine unresponsive) (HCU).
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This question is part of the following fields:
- Paediatrics
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Question 21
Incorrect
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A 5-year-old girl is brought to the emergency room by her father. She has been lethargic and feverish for the past 2 hours. While waiting to be seen, she becomes unconscious. A physician performs an urgent evaluation while the nurse contacts 911. The child is not breathing, so 5 rescue breaths are administered. As you enter the room, the physician cannot detect a pulse in the brachial or carotid artery. What is the best course of action?
Your Answer:
Correct Answer: Start chest compressions/ventilations at a ratio of 15:2
Explanation:The chest compressions to ventilations ratio should be 15:2 when two trained staff members are present.
Paediatric Basic Life Support Guidelines
Paediatric basic life support guidelines were updated in 2015 by the Resuscitation Council. Lay rescuers should use a compression:ventilation ratio of 30:2 for children under 1 year and between 1 year and puberty, a child is defined. If there are two or more rescuers, a ratio of 15:2 should be used.
The algorithm for paediatric basic life support starts with checking if the child is unresponsive and shouting for help. The airway should be opened, and breathing should be checked by looking, listening, and feeling for breaths. If the child is not breathing, five rescue breaths should be given, and signs of circulation should be checked.
For infants, the brachial or femoral pulse should be used, while children should use the femoral pulse. Chest compressions should be performed at a ratio of 15:2, with a rate of 100-120 compressions per minute for both infants and children. The depth of compressions should be at least one-third of the anterior-posterior dimension of the chest, which is approximately 4 cm for an infant and 5 cm for a child.
In children, the lower half of the sternum should be compressed, while in infants, a two-thumb encircling technique should be used for chest compressions. These guidelines are crucial for anyone who may need to perform basic life support on a child, and it is essential to follow them carefully to ensure the best possible outcome.
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This question is part of the following fields:
- Paediatrics
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Question 22
Incorrect
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A 6-year-old girl is brought to the clinic by her mother due to complaints of itching around her vulva and anus for the past 3 days. Upon examination, the area appears red and the skin on her vulva is broken from excessive scratching. Her mother has been applying sudocrem but it has not provided relief. There are no other individuals at home with similar symptoms. Based on the probable diagnosis, what is the most suitable course of action?
Your Answer:
Correct Answer: Prescribe a single dose of mebendazole for the household and give hygiene advice
Explanation:The recommended first line treatment for threadworm is mebendazole. In this case, as the patient is showing symptoms of threadworm, it is important to treat all members of the household with a single dose of mebendazole and provide hygiene advice. While a ‘Scotch tape test’ can be used to confirm the presence of eggs or worms, treatment is often based on symptoms. It is not appropriate to only treat the daughter and provide hygiene advice, as other members of the household may also be infected. Additionally, prescribing 7 days of mebendazole for the daughter alone is incorrect, as a single dose is recommended and a second dose should be taken 14 days later. Piperazine is only recommended for children under 2 years old, so it is not appropriate to prescribe 14 days of piperazine for the daughter in this case.
Threadworm Infestation in Children
Threadworm infestation, caused by Enterobius vermicularis or pinworms, is a common occurrence among children in the UK. The infestation happens when eggs present in the environment are ingested. In most cases, threadworm infestation is asymptomatic, but some possible symptoms include perianal itching, especially at night, and vulval symptoms in girls. Diagnosis can be made by applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically, and this approach is supported in the CKS guidelines.
The CKS recommends a combination of anthelmintic with hygiene measures for all members of the household. Mebendazole is the first-line treatment for children over six months old, and a single dose is given unless the infestation persists. It is essential to treat all members of the household to prevent re-infection. Proper hygiene measures, such as washing hands regularly, keeping fingernails short, and washing clothes and bedding at high temperatures, can also help prevent the spread of threadworm infestation.
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This question is part of the following fields:
- Paediatrics
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Question 23
Incorrect
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A 5-year-old boy presents with learning difficulties and macrocephaly. What is the probable diagnosis?
Your Answer:
Correct Answer: Fragile X
Explanation:Fragile X is a condition characterized by learning difficulties, macrocephaly, large ears, and macro-orchidism in young boys.
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.
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This question is part of the following fields:
- Paediatrics
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Question 24
Incorrect
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A mother requests a home visit for her 10-year-old daughter who is too unwell to come to the clinic. Upon arrival, the girl is observed to have a fever, cold extremities, and purplish spots on her legs. What steps should be taken?
Your Answer:
Correct Answer: IM benzylpenicillin 1200mg
Explanation:The RCGP has previously provided feedback that doctors are required to have knowledge of emergency medication dosages, with a specific emphasis on suspected cases of meningococcal septicaemia.
Paediatric Drug Doses for Emergency Situations
When it comes to prescribing drugs for children in emergency situations, it is important to consult the current British National Formulary (BNF) beforehand. However, as a guide, the following doses can be used for intramuscular (IM) benzylpenicillin in suspected cases of meningococcal septicaemia in the community. For children under one year old, the dose is 300 mg. For children between one and ten years old, the dose is 600mg. For children over ten years old, the dose is 1200mg. It is important to note that these doses are only a guide and should be adjusted based on the individual child’s weight and medical history. Always consult with a healthcare professional before administering any medication to a child.
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This question is part of the following fields:
- Paediatrics
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Question 25
Incorrect
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A father brings in his 3-week-old baby boy to the pediatrician's office as he's noticed that the baby bruises very easily. This is his first child, who was born in Canada following an uncomplicated pregnancy by natural vaginal delivery. Exclusive breastfeeding was commenced immediately following delivery and the baby has been feeding well otherwise and gaining weight steadily. You order the following blood test.
International normalised ratio (INR) 4
What could be the possible reasons for the baby's symptoms?Your Answer:
Correct Answer: Exclusive breastfeeding
Explanation:Breastfed infants may be susceptible to vitamin K deficiency, as breast milk lacks sufficient amounts of this nutrient. The baby in question is likely experiencing idiopathic vitamin K deficiency, with breastfeeding being the only known risk factor. It is possible that the baby did not receive a vitamin K injection at birth, as they were born in Ukraine. Gender, age, vaginal delivery, and birth order are not associated with an increased risk of vitamin K deficiency.
Haemorrhagic Disease of the Newborn: Causes and Prevention
Newborn babies have a relatively low level of vitamin K, which can lead to the development of haemorrhagic disease of the newborn (HDN). This condition occurs when the production of clotting factors is impaired, resulting in bleeding that can range from minor bruising to intracranial haemorrhages. Breast-fed babies are particularly at risk, as breast milk is a poor source of vitamin K. Additionally, the use of antiepileptic medication by the mother can increase the risk of HDN in the newborn.
To prevent HDN, all newborns in the UK are offered vitamin K supplementation. This can be administered either intramuscularly or orally. By providing newborns with adequate levels of vitamin K, the risk of HDN can be significantly reduced. It is important for parents and healthcare providers to be aware of the risk factors for HDN and to take steps to prevent this potentially serious condition.
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This question is part of the following fields:
- Paediatrics
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Question 26
Incorrect
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A 5-year-old girl comes to the GP with her father. He is concerned that she is not growing as well as her classmates. The father reports that the child experiences foul-smelling diarrhoea about 3-4 times a week and complains of abdominal pain.
During the examination, the girl has a distended belly and thin buttocks. She has fallen 3 centile lines and now falls on the 15th centile.
What would be the most suitable first test to perform?Your Answer:
Correct Answer: IgA TTG antibodies
Explanation:The most probable diagnosis in this case is coeliac disease, which can be confirmed by testing for IgA TTG antibodies. To determine the appropriate antibiotic, a stool sample would be necessary to diagnose gastroenteritis. The hydrogen breath test is typically used to diagnose irritable bowel syndrome or certain food intolerances. Endoscopy is more frequently used in adults who are suspected of having cancer. An abdominal X-ray may be beneficial in cases where obstruction is suspected. Coeliac disease is a digestive disorder that is becoming more prevalent and is characterized by an adverse reaction to gluten, a protein found in wheat, barley, and rye.
Coeliac Disease in Children: Causes, Symptoms, and Diagnosis
Coeliac disease is a condition that affects children and is caused by sensitivity to gluten, a protein found in cereals. This sensitivity leads to villous atrophy, which causes malabsorption. Children usually present with symptoms before the age of 3, coinciding with the introduction of cereals into their diet. The incidence of coeliac disease is around 1 in 100 and is strongly associated with HLA-DQ2 and HLA-DQ8. Symptoms of coeliac disease include failure to thrive, diarrhoea, abdominal distension, and anaemia in older children. However, many cases are not diagnosed until adulthood.
Diagnosis of coeliac disease involves a jejunal biopsy showing subtotal villous atrophy. Screening tests such as anti-endomysial and anti-gliadin antibodies are also useful. Duodenal biopsies can show complete atrophy of the villi with flat mucosa and marked crypt hyperplasia, as well as dense mixed inflammatory infiltrate in the lamina propria. Increased number of intraepithelial lymphocytes and vacuolated superficial epithelial cells can also be observed.
In summary, coeliac disease is a condition that affects children and is caused by sensitivity to gluten. It is important to be aware of the symptoms and to seek medical attention if necessary. Diagnosis involves a biopsy and screening tests, and treatment involves a gluten-free diet.
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This question is part of the following fields:
- Paediatrics
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Question 27
Incorrect
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What is a not a cause of hypertension in adolescents?
Your Answer:
Correct Answer: Bartter's syndrome
Explanation:Bartter’s syndrome is a genetic condition that typically follows an autosomal recessive pattern of inheritance. It results in severe hypokalaemia due to a defect in the absorption of chloride at the Na+ K+ 2Cl- cotransporter in the ascending loop of Henle. Unlike other endocrine causes of hypokalaemia such as Conn’s, Cushing’s and Liddle’s syndrome, Bartter’s syndrome is associated with normotension. The condition usually presents in childhood and is characterized by symptoms such as failure to thrive, polyuria, polydipsia, hypokalaemia, and weakness.
Hypertension, or high blood pressure, can also affect children. To measure blood pressure in children, it is important to use a cuff size that is approximately 2/3 the length of their upper arm. The 4th Korotkoff sound is used to measure diastolic blood pressure until adolescence, when the 5th Korotkoff sound can be used. Results should be compared with a graph of normal values for their age.
In younger children, secondary hypertension is the most common cause, with renal parenchymal disease accounting for up to 80% of cases. Other causes of hypertension in children include renal vascular disease, coarctation of the aorta, phaeochromocytoma, congenital adrenal hyperplasia, and essential or primary hypertension, which becomes more common as children get older. It is important to identify the underlying cause of hypertension in children in order to provide appropriate treatment and prevent complications.
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This question is part of the following fields:
- Paediatrics
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Question 28
Incorrect
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A mother brings her 10-month-old son to the Emergency Department (ED). She is very concerned as she reports that he has been unsettled and crying all night, which is unusual for him. The patient was born at 40+1 weeks by normal vaginal delivery; the mother developed gestational diabetes, but there were no other complications during the pregnancy or birth. The child has had all his vaccinations. The mother reports that he has been crying non-stop since the early hours of this morning. She tried to feed him, but he vomited twice, minutes after the feed.
On examination, he is crying, warm and well perfused, with a pulse of 150 beats per minute (bpm). His abdomen appears distended with tinkling bowel sounds. The mother mentions that she noticed a dark red jelly-like substance in his nappy when she changed it earlier.
What is the most likely diagnosis?Your Answer:
Correct Answer: Intussusception
Explanation:Common Causes of Bowel Obstruction in Children
Bowel obstruction in children can be caused by various conditions, each with its own distinct features. Here are some of the most common causes:
1. Intussusception: This occurs when one segment of the bowel telescopes into another, leading to obstruction. It is most common in children aged 6-9 months and may be idiopathic or caused by a viral infection. Symptoms include bilious vomiting, distended abdomen, tinkling bowel sounds, and redcurrant jelly stools.
2. Congenital hypertrophic pyloric stenosis: This is a gastric outlet obstruction that typically presents at around 3 weeks of life. It is caused by hypertrophy of the pylorus and leads to non-bilious projectile vomiting and a palpable olive mass in the epigastric region. Treatment involves surgical excision.
3. Duodenal atresia: This is a type of bowel obstruction that only occurs in neonates. It results from failure of recanalization of the small bowel in early fetal life and presents with bilious vomiting, proximal stomach distension, and a double-bubble sign on X-ray. It is associated with Down’s syndrome.
4. Ileus: This is a condition in which the bowel becomes aperistaltic, leading to obstruction. It is common after abdominal surgery, electrolyte disturbances, or infection.
5. Meconium obstruction: This is a type of bowel obstruction that only occurs in newborns. It presents with failure to pass meconium, bilious vomiting, and abdominal distension. Diagnosis can be made prenatally or after birth with an abdominal X-ray showing dilated loops of the small intestine and a soap bubble appearance. Treatment involves radiographic contrast enema or surgery if enemas are unsuccessful.
In conclusion, bowel obstruction in children can have various causes, and prompt diagnosis and treatment are essential to prevent complications.
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This question is part of the following fields:
- Paediatrics
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Question 29
Incorrect
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A 6-week-old baby is seen in surgery with decreased feeding and a temperature of 38.8°C.
Which of the following is the appropriate action?Your Answer:
Correct Answer: Refer to the paediatric on-call team
Explanation:Management of Fever in a High-Risk Child
When managing a child with fever, it is important to consider their age and any accompanying symptoms. According to the NICE guideline on ‘Fever in under 5s’, children aged <3 months with a temperature of 38°C are at high risk for serious illness. In such cases, it is recommended to refer the child urgently to a paediatric specialist. Encouraging fluids may be useful, but it should not be relied upon to rule out serious underlying illness. Similarly, antipyretics may be given before the child is seen by the paediatric team, but it is important to consult the NICE guideline for appropriate dosages. Blind prescription of oral antibiotics or IM benzylpenicillin is not recommended without a clear source of infection and discussion with the on-call paediatric team. Therefore, it is crucial to refer high-risk children to the paediatric on-call team for further management.
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This question is part of the following fields:
- Paediatrics
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Question 30
Incorrect
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A father brings his 5-year-old daughter to the clinic. Despite not getting the MMR vaccine during the recent scare, he now wants to know if it's still possible to have her immunised due to the current measles outbreak. What should be done in this situation?
Your Answer:
Correct Answer: Give MMR with repeat dose in 3 months
Explanation:According to the Green Book, it is recommended to have a 3-month gap between doses for optimal response rate. However, if the child is over 10 years old, a 1-month gap is sufficient. In case of an emergency, such as an outbreak at the child’s school, younger children can have a shorter gap of 1 month.
The MMR Vaccine: Information on Contraindications and Adverse Effects
The Measles, Mumps and Rubella (MMR) vaccine is given to children in the UK twice before they enter primary school. The first dose is administered at 12-15 months, while the second dose is given at 3-4 years old. This vaccine is part of the routine immunisation schedule.
However, there are certain contraindications to the MMR vaccine. Children with severe immunosuppression, allergies to neomycin, or those who have received another live vaccine by injection within four weeks should not receive the MMR vaccine. Pregnant women should also avoid getting vaccinated for at least one month following the MMR vaccine. Additionally, if a child has undergone immunoglobulin therapy within the past three months, there may be no immune response to the measles vaccine if antibodies are present.
While the MMR vaccine is generally safe, there are some adverse effects that may occur. After the first dose of the vaccine, some children may experience malaise, fever, and rash. These symptoms typically occur after 5-10 days and last for around 2-3 days. It is important to be aware of these potential side effects and to consult with a healthcare professional if any concerns arise.
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This question is part of the following fields:
- Paediatrics
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