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Question 1
Incorrect
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What is the most frequent cause of hypothyroidism in children in the United Kingdom?
Your Answer: Iodine deficiency
Correct Answer: Autoimmune thyroiditis
Explanation:Causes of Hypothyroidism in Children
Hypothyroidism in children, also known as juvenile hypothyroidism, is most commonly caused by autoimmune thyroiditis. This occurs when the body’s immune system attacks the thyroid gland, leading to decreased production of thyroid hormones. However, there are other causes of hypothyroidism in children as well. For example, children who have undergone total-body irradiation as part of treatment for acute lymphoblastic leukemia may develop hypothyroidism as a side effect. Additionally, iodine deficiency is a common cause of hypothyroidism in children in developing countries. It is important for parents and healthcare providers to be aware of these potential causes in order to properly diagnose and treat hypothyroidism in children.
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This question is part of the following fields:
- Paediatrics
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Question 2
Correct
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A mother who refused regular prenatal check-ups delivers a male infant. During delivery, a defect is observed on the side of the belly button, revealing the intestines.
What could be the possible diagnosis?Your Answer: Gastroschisis
Explanation:Gastroschisis is a bowel condition where the intestines are exposed and not encased by a sac. It is not associated with cardiac and kidney diseases, unlike exomphalos. It can be diagnosed through routine ultrasound, but may be missed if the mother does not engage in antenatal care. It is not a normal variant and is not necessarily associated with prematurity.
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 3
Correct
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Samantha is a 28-year-old who comes to your GP clinic seeking information about cystic fibrosis. She is in a committed relationship and wants to start a family. Samantha mentions that her partner's family has a history of cystic fibrosis and she wants to know more about it. She has already done some research and knows that cystic fibrosis is caused by mutations in the CF transmembrane conductance regulator gene (CFTR) on chromosome 7. Samantha asks you to explain how cystic fibrosis is inherited.
Can you help her understand the inheritance pattern of cystic fibrosis?Your Answer: Autosomal recessive inheritance
Explanation:Cystic fibrosis is a genetic disorder that follows an autosomal recessive pattern of inheritance. The carrier frequency is estimated to be 1 in 25 individuals, while the prevalence of the disease is 1 in 2500 newborns. Having a positive family history is the only known risk factor for CF, and parents should receive appropriate counseling before conception or during pregnancy if they are carriers.
Understanding Cystic Fibrosis and the Organisms that Affect Patients
Cystic fibrosis is a genetic disorder that causes thickened secretions in the lungs and pancreas. This condition is caused by a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which regulates chloride channels. In the UK, 80% of CF cases are due to delta F508 on chromosome 7, and the carrier rate is approximately 1 in 25.
CF patients are susceptible to colonization by certain organisms, including Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia, and Aspergillus. These organisms can cause infections and exacerbate symptoms in CF patients. It is important for healthcare providers to monitor and manage these infections to improve patient outcomes. By understanding the genetic basis of CF and the organisms that affect patients, healthcare providers can provide better care for those with this condition.
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This question is part of the following fields:
- Paediatrics
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Question 4
Correct
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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: 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 5
Incorrect
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A 14-year-old patient presents to the emergency department with a cut sustained while helping her mother with gardening. The wound appears superficial and is closed with skin glue. During examination, her vital signs are recorded as a temperature of 36.9ºC, heart rate of 86 bpm, blood pressure of 115/87 mmHg, respiratory rate of 16/min, and oxygen saturation of 98% on room air. The patient's mother is concerned about the need for a tetanus booster as she cannot recall if her daughter received the full course of vaccinations during childhood. How should the patient be managed?
Your Answer: Tetanus level then consider booster vaccine
Correct Answer: Tetanus booster vaccine and immunoglobulin
Explanation:If a patient’s tetanus vaccination history is uncertain and the wound is not minor and less than 6 hours old, they should receive a booster vaccine and immunoglobulin. In this case, the patient is 13 years old and should have received 4 or 5 vaccinations against tetanus under the standard UK vaccination schedule. Antibiotics are not necessary if the wound is clean and not deep. It is more efficient to administer the booster while the patient is in the department rather than asking the GP to follow up, which could result in the patient being lost to follow up. The term tetanus level is incorrect as there is no such test.
Tetanus Vaccination and Management of Wounds
The tetanus vaccine is a purified toxin that is given as part of a combined vaccine. In the UK, it is given as part of the routine immunisation schedule at 2, 3, and 4 months, 3-5 years, and 13-18 years, providing a total of 5 doses for long-term protection against tetanus.
When managing wounds, the first step is to classify them as clean, tetanus-prone, or high-risk tetanus-prone. Clean wounds are less than 6 hours old and have negligible tissue damage, while tetanus-prone wounds include puncture-type injuries acquired in a contaminated environment or wounds containing foreign bodies. High-risk tetanus-prone wounds include wounds or burns with systemic sepsis, certain animal bites and scratches, heavy contamination with material likely to contain tetanus spores, wounds or burns with extensive devitalised tissue, and wounds or burns that require surgical intervention.
If the patient has had a full course of tetanus vaccines with the last dose less than 10 years ago, no vaccine or tetanus immunoglobulin is required regardless of the wound severity. If the patient has had a full course of tetanus vaccines with the last dose more than 10 years ago, a reinforcing dose of vaccine is required for tetanus-prone wounds, and a reinforcing dose of vaccine plus tetanus immunoglobulin is required for high-risk wounds. If the vaccination history is incomplete or unknown, a reinforcing dose of vaccine is required regardless of the wound severity, and a reinforcing dose of vaccine plus tetanus immunoglobulin is required for tetanus-prone and high-risk wounds.
Overall, proper vaccination and wound management are crucial in preventing tetanus infection.
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This question is part of the following fields:
- Paediatrics
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Question 6
Correct
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What is a cause of acyanotic congenital heart disease?
Your 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 7
Correct
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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: 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 8
Correct
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A 30-year-old man is advised on the genetics of Huntington's disease. What is the best explanation for the concept of anticipation?
Your Answer: Earlier age of onset in successive generations
Explanation:Trinucleotide repeat disorders exhibit earlier onset in successive generations due to anticipation, which is often accompanied by an escalation in symptom severity.
Trinucleotide repeat disorders are genetic conditions that occur due to an abnormal number of repeats of a repetitive sequence of three nucleotides. These expansions are unstable and can enlarge, leading to an earlier age of onset in successive generations, a phenomenon known as anticipation. In most cases, an increase in the severity of symptoms is also observed. It is important to note that these disorders are predominantly neurological in nature.
Examples of trinucleotide repeat disorders include Fragile X, Huntington’s, myotonic dystrophy, Friedreich’s ataxia, spinocerebellar ataxia, spinobulbar muscular atrophy, and dentatorubral pallidoluysian atrophy. Friedreich’s ataxia is unique in that it does not demonstrate anticipation.
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This question is part of the following fields:
- Paediatrics
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Question 9
Correct
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Which one of the following statements regarding croup is true?
Your Answer: Most commonly caused by parainfluenza viruses
Explanation:The majority of croup cases are caused by parainfluenza virus, and it is recommended to avoid throat examination as it may lead to airway obstruction.
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 10
Correct
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A mother brings her 3-year-old child to you, complaining of frequent respiratory infections, a persistent cough, and poor weight gain. The child is currently at the 3rd percentile for their age. The parents are of Romanian descent and have recently moved to the UK. What test should be performed to confirm the suspected diagnosis?
Your Answer: Sweat test
Explanation:Cystic fibrosis is a genetic disorder that affects the lungs and is inherited in an autosomal recessive manner. In the United Kingdom, newborns are screened for cystic fibrosis on the sixth day of life using a dried blood spot collected on a Guthrie card.
Understanding Cystic Fibrosis and the Organisms that Affect Patients
Cystic fibrosis is a genetic disorder that causes thickened secretions in the lungs and pancreas. This condition is caused by a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which regulates chloride channels. In the UK, 80% of CF cases are due to delta F508 on chromosome 7, and the carrier rate is approximately 1 in 25.
CF patients are susceptible to colonization by certain organisms, including Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia, and Aspergillus. These organisms can cause infections and exacerbate symptoms in CF patients. It is important for healthcare providers to monitor and manage these infections to improve patient outcomes. By understanding the genetic basis of CF and the organisms that affect patients, healthcare providers can provide better care for those with this condition.
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This question is part of the following fields:
- Paediatrics
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Question 11
Correct
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A 3-day-old baby boy is experiencing cyanosis during feeding and crying, leading to suspicion of congenital heart disease. What could be the probable reason?
Your Answer: Transposition of the great arteries
Explanation:When it comes to congenital heart disease, TGA and Fallot’s are the most common causes of cyanotic heart disease. However, TGA is more commonly seen in newborns, while Fallot’s typically presents a few months after a murmur is detected. VSD is the most common cause of acyanotic congenital heart disease.
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
Correct
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As a GPST1 in a GP practice, I have a patient named Sarah who is 24 years old and has come to me seeking information on cystic fibrosis. She has been informed in the past that she is a carrier. Can you provide me with the correct information to share with her?
Your Answer: Cystic fibrosis is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR)
Explanation:Delta F508 on the long arm of chromosome 7 accounts for the majority of CF cases, with approximately 1 in 2500 births being affected by the disease. The carrier rate is estimated to be around 1 in 25.
Understanding Cystic Fibrosis and the Organisms that Affect Patients
Cystic fibrosis is a genetic disorder that causes thickened secretions in the lungs and pancreas. This condition is caused by a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which regulates chloride channels. In the UK, 80% of CF cases are due to delta F508 on chromosome 7, and the carrier rate is approximately 1 in 25.
CF patients are susceptible to colonization by certain organisms, including Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia, and Aspergillus. These organisms can cause infections and exacerbate symptoms in CF patients. It is important for healthcare providers to monitor and manage these infections to improve patient outcomes. By understanding the genetic basis of CF and the organisms that affect patients, healthcare providers can provide better care for those with this condition.
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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 6-year-old boy comes to the pediatrician's office as his parents are concerned about his early development. He is now a lot taller than most of his friends and he has started to develop hair around his genitalia and armpits. On examination, his penis is also large for his age however his testes remain prepubertal. Which of the following is the most likely cause of this boy's precocious puberty?
Your Answer: Idiopathic precocious puberty
Correct Answer: Adrenal hyperplasia
Explanation:When dealing with precocious puberty, it is important to examine the size of the testicles to determine the underlying cause. In cases where the testicles are small, such as in this situation, it suggests an adrenal origin of the symptoms. On the other hand, if there is bilateral testicular enlargement, it may indicate central precocious puberty caused by an astrocytoma or other brain tumor. Testotoxicosis, which is associated with a history of childhood sexual aggression, would result in advanced development in all areas. A sex cord-gonadal stromal tumor would cause unilateral enlargement of the affected testicle. Finally, an idiopathic cause of precocious puberty would lead to advanced development in all pubertal areas, resulting in enlarged testicles.
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.
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This question is part of the following fields:
- Paediatrics
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Question 14
Correct
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A 32-year-old woman at 28 weeks gestation reports decreased fetal movements. Upon ultrasound, it is discovered that the fetus is hydropic. Her 5-year-old child had a fever and redness on the cheeks recently. What is the probable infectious agent responsible for this?
Your Answer: Parvovirus B19
Explanation:The symptoms exhibited by the child indicate erythema infectiosum, which is caused by an infection with parvovirus B19. Most pregnant women have immunity to this virus and it typically does not pose a risk. However, in rare cases, infection during the first trimester has been associated with hydrops fetalis, which can lead to miscarriage.
Parvovirus B19: A Virus with Various Clinical Presentations
Parvovirus B19 is a DNA virus that can cause different clinical presentations. One of the most common is erythema infectiosum, also known as fifth disease or slapped-cheek syndrome. This illness may manifest as a mild feverish condition or a noticeable rash that appears after a few days. The rash is characterized by rose-red cheeks, which is why it is called slapped-cheek syndrome. It may spread to the rest of the body but rarely involves the palms and soles. The rash usually peaks after a week and then fades, but for some months afterwards, a warm bath, sunlight, heat, or fever may trigger a recurrence of the bright red cheeks and rash. Most children recover without specific treatment, and school exclusion is unnecessary as the child is not infectious once the rash emerges. However, in adults, the virus may cause acute arthritis.
Aside from erythema infectiosum, parvovirus B19 can also present as asymptomatic, pancytopenia in immunosuppressed patients, aplastic crises in sickle-cell disease, and hydrops fetalis. The virus suppresses erythropoiesis for about a week, so aplastic anemia is rare unless there is a chronic hemolytic anemia. In pregnant women, the virus can cross the placenta and cause severe anemia due to viral suppression of fetal erythropoiesis, which can lead to heart failure secondary to severe anemia and the accumulation of fluid in fetal serous cavities (e.g. ascites, pleural and pericardial effusions). This condition is treated with intrauterine blood transfusions.
It is important to note that the virus can affect an unborn baby in the first 20 weeks of pregnancy. If a woman is exposed early in pregnancy (before 20 weeks), she should seek prompt advice from her antenatal care provider as maternal IgM and IgG will need to be checked. The virus is spread by the respiratory route, and a person is infectious 3 to 5 days before the appearance of the rash. Children are no longer infectious once the rash appears, and there is no specific treatment. Therefore, the child need not be excluded from school as they are no longer infectious by the time the rash occurs.
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This question is part of the following fields:
- Paediatrics
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Question 15
Correct
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A 33-year-old pregnant woman arrives with preterm labor at 32 weeks gestation. What is the primary intervention to prevent neonatal respiratory distress syndrome?
Your Answer: Administer dexamethasone to the mother
Explanation:Neonatal respiratory distress syndrome (NRDS) is a condition that primarily affects premature newborns due to a lack of surfactant. This deficiency causes an increase in alveolar surface tension, leading to reduced compliance and increased breathing effort. The production of surfactant in the fetus is aided by natural maternal glucocorticosteroids, and synthetic steroids are the first-line treatment for preventing NRDS in high-risk pregnancies. Tocolytics, which can delay preterm labor, are not typically used, but may be considered in certain cases to allow time for maternal steroids to take effect. While curosurf, continuous positive airway pressure, and extracorporeal membrane oxygenation can be effective treatments for NRDS, they are not used as preventative measures.
Surfactant Deficient Lung Disease in Premature Infants
Surfactant deficient lung disease (SDLD), previously known as hyaline membrane disease, is a condition that affects premature infants. It occurs due to the underproduction of surfactant and the immaturity of the lungs’ structure. The risk of SDLD decreases with gestation, with 50% of infants born at 26-28 weeks and 25% of infants born at 30-31 weeks being affected. Other risk factors include male sex, diabetic mothers, Caesarean section, and being the second born of premature twins.
The clinical features of SDLD are similar to those of respiratory distress in newborns, including tachypnea, intercostal recession, expiratory grunting, and cyanosis. Chest x-rays typically show a ground-glass appearance with an indistinct heart border.
Prevention during pregnancy involves administering maternal corticosteroids to induce fetal lung maturation. Management of SDLD includes oxygen therapy, assisted ventilation, and exogenous surfactant given via an endotracheal tube. With proper management, the prognosis for infants with SDLD is generally good.
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This question is part of the following fields:
- Paediatrics
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Question 16
Correct
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A young girl from a nomadic group has been diagnosed with measles. What is the potential immediate complication she may face following the initial infection?
Your Answer: Pneumonia
Explanation:Pneumonia is a possible complication of measles, while subacute sclerosing panencephalitis may develop 5-10 years after the illness. Mumps infection may lead to pancreatitis and infertility.
Measles: A Highly Infectious Viral Disease
Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.
The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.
Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.
If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.
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This question is part of the following fields:
- Paediatrics
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Question 17
Correct
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A 4-year-old boy is brought to his General Practitioner (GP) by his mother. She is concerned that he has had consistently delayed motor milestones and that he has severe behavioural difficulties. To stand up from a sitting position, he first kneels on all fours and then uses his hands to ‘walk himself up’. The GP notices that the child has hypertrophy of his calf muscles.
Which of the following tests is useful in the diagnosis of the underlying condition?
Select the SINGLE most useful test from the list below.Your Answer: Creatine kinase
Explanation:Diagnostic Tests for Duchenne Muscular Dystrophy and Wilson’s Disease
Duchenne muscular dystrophy (DMD) and Wilson’s disease are two conditions that can present with non-specific symptoms. Here, we discuss the diagnostic tests used to identify these conditions.
DMD is an X-linked recessive condition that predominantly affects males. Diagnosis is usually made by significantly elevated creatine kinase levels and genetic testing. Muscle biopsy may also be required. Symptoms usually present by age three and include delayed walking, muscle weakness, pseudohypertrophy of calf muscles, and learning difficulties. An MRI spine or head is not helpful in diagnosis as DMD is not caused by a central nervous system or spinal pathology.
Wilson’s disease often presents with signs of liver failure and non-specific symptoms such as tiredness, weight loss, and abdominal pain. Neurological symptoms such as tremors, loss of motor skills, and behavioural problems are more common in teenagers and adults. Diagnosis is made by measuring serum caeruloplasmin levels and genetic testing.
In summary, elevated creatine kinase levels and genetic testing are used to diagnose DMD, while serum caeruloplasmin levels and genetic testing are used to diagnose Wilson’s disease. MRI scans are not helpful in the diagnosis of either condition.
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This question is part of the following fields:
- Paediatrics
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Question 18
Correct
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Fragile X is commonly associated with all of the following symptoms except?
Your Answer: Small, firm testes
Explanation:Fragile X Syndrome: A Genetic Disorder
Fragile X syndrome is a genetic disorder caused by a trinucleotide repeat. It affects both males and females, but males are more severely affected. Common features in males include learning difficulties, large low set ears, long thin face, high arched palate, macroorchidism, hypotonia, and a higher likelihood of autism. Mitral valve prolapse is also a common feature. Females, who have one fragile chromosome and one normal X chromosome, may have a range of symptoms from normal to mild.
Diagnosis of Fragile X syndrome can be made antenatally by chorionic villus sampling or amniocentesis. The number of CGG repeats can be analyzed using restriction endonuclease digestion and Southern blot analysis. Early diagnosis and intervention can help manage the symptoms of Fragile X syndrome and improve the quality of life for those affected.
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This question is part of the following fields:
- Paediatrics
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Question 19
Incorrect
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You are speaking to a 26-year-old man who is known to have haemophilia A. His wife has had genetic testing and was found not to be a carrier of haemophilia. He asks you what the chances are of his future children developing haemophilia. What is the correct answer?
Your Answer: 50% if male, 0% if female
Correct Answer: 0%
Explanation:If the mother is not a carrier of the X-linked recessive condition, so there is no risk of future children developing haemophilia. However, any daughters the father has will be carriers. Male-to-male transmission is not possible, and affected males can only have unaffected sons and carrier daughters.
Understanding X-Linked Recessive Inheritance
X-linked recessive inheritance is a genetic pattern where only males are affected, except in rare cases such as Turner’s syndrome. This type of inheritance is transmitted by heterozygote females, who are carriers of the gene mutation. Male-to-male transmission is not observed in X-linked recessive disorders. Affected males can only have unaffected sons and carrier daughters.
If a female carrier has children, each male child has a 50% chance of being affected, while each female child has a 50% chance of being a carrier. It is important to note that the possibility of an affected father having children with a heterozygous female carrier is generally rare. However, in some Afro-Caribbean communities, G6PD deficiency is relatively common, and homozygous females with clinical manifestations of the enzyme defect are observed.
In summary, X-linked recessive inheritance is a genetic pattern that affects only males and is transmitted by female carriers. Understanding this pattern is crucial in predicting the likelihood of passing on genetic disorders to future generations.
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This question is part of the following fields:
- Paediatrics
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Question 20
Correct
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A 4-month-old girl presents with vomiting, yellowing of the skin and dehydration. Tests show low potassium levels and metabolic alkalosis.
What is the best initial course of action?Your Answer: Correction of metabolic derangements
Explanation:Management of Infantile Pyloric Stenosis: Correction of Metabolic Derangements
Infantile pyloric stenosis is a common condition in newborns, characterized by a hypertrophied pylorus that causes projectile vomiting and hungry feeding. The electrolyte abnormality associated with this condition is hypokalaemic hypochloraemic alkalosis. Before undergoing surgery, it is crucial to correct these metabolic abnormalities in consultation with a pediatrician and anesthetist. Ramstedt’s pyloromyotomy is the definitive surgical treatment for infantile pyloric stenosis. Upper GI endoscopy is not necessary for diagnosis if the clinical presentation is clear. Feeding jejunostomy and total parenteral nutrition are not appropriate initial management options. During surgery, the umbilicus should be excluded from the operative field to prevent staphylococcus aureus infection.
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- Paediatrics
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