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Question 1
Incorrect
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A three-week old boy is brought to the emergency department by ambulance after losing consciousness. His mother reports that he often appears short of breath and has a bluish tint to his skin while feeding, which she assumed was normal. Imaging reveals the presence of right ventricular hypertrophy, a ventricular septal defect, and a displaced aorta. Additional imaging is requested. Based on the probable diagnosis, what type of murmur would be anticipated in this infant?
Your Answer: Pansystolic murmur
Correct Answer: Ejection systolic murmur
Explanation:The correct answer is an ejection systolic murmur. Tetralogy of Fallot is characterized by cyanosis or collapse in the first month of life, hypercyanotic spells, and an ejection systolic murmur heard at the left sternal edge due to pulmonary stenosis. The other features include right ventricular hypertrophy, a ventricular septal defect, and an overriding aorta. A continuous machinery murmur is associated with a patent ductus arteriosus, while a diastolic decrescendo murmur is heard in aortic or pulmonary regurgitation. Finally, a mid-diastolic murmur with an opening click is heard in cases of mitral stenosis.
Understanding Tetralogy of Fallot
Tetralogy of Fallot (TOF) is a congenital heart disease that results from the anterior malalignment of the aorticopulmonary septum. It is the most common cause of cyanotic congenital heart disease, and it typically presents at around 1-2 months, although it may not be detected until the baby is 6 months old. The condition is characterized by four features, including ventricular septal defect (VSD), right ventricular hypertrophy, right ventricular outflow tract obstruction, and overriding aorta. The severity of the right ventricular outflow tract obstruction determines the degree of cyanosis and clinical severity.
Other features of TOF include cyanosis, which may cause episodic hypercyanotic ‘tet’ spells due to near occlusion of the right ventricular outflow tract. These spells are characterized by tachypnea and severe cyanosis that may occasionally result in loss of consciousness. They typically occur when an infant is upset, in pain, or has a fever, and they cause a right-to-left shunt. Additionally, TOF may cause an ejection systolic murmur due to pulmonary stenosis, and a right-sided aortic arch is seen in 25% of patients. Chest x-ray shows a ‘boot-shaped’ heart, while ECG shows right ventricular hypertrophy.
The management of TOF often involves surgical repair, which is usually undertaken in two parts. Cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm. However, it is important to note that at birth, transposition of the great arteries is the more common lesion as patients with TOF generally present at around 1-2 months. Understanding the features and management of TOF is crucial for healthcare professionals to provide appropriate care and treatment for affected infants.
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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 1-day-old child is found to have absent femoral pulses and a systolic ejection murmur over the left side of their chest and back upon their routine examination. Their brachial pulses are strong. They appear pale and are tachypnoeic. They have not managed to eat much solid food, as they become distressed.
Which of the following statements about their condition is true?Your Answer: May be treated by balloon angioplasty with or without stenting
Explanation:Coarctation of the Aorta: Diagnosis and Treatment Options
Coarctation of the aorta is a congenital condition that causes narrowing of the aorta, most commonly at the site of insertion of the ductus arteriosus. Diagnosis can be made antenatally or after birth upon newborn examination. Treatment options include surgical repair or balloon angioplasty and/or stenting. If diagnosed antenatally, prostaglandin is given to encourage the ductus arteriosus to remain patent until repair is performed. Less severe cases can present in older children with symptoms such as leg pain, tiredness, dizzy spells, or an incidental finding of a murmur. Following repair, there are rarely any long-term complications, but re-coarctation can occur. Balloon angioplasty, with or without stenting, can be used in some circumstances, rather than surgical reconstruction. It is important to monitor for hypertension and/or premature cardiovascular or cerebrovascular disease in adults with a previous history of coarctation of the aorta.
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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 1-month-old infant begins to turn blue and becomes tachypnoeic 10 minutes after feeding. They are administered 100% oxygen for 20 minutes and an arterial blood gas is performed.
pH 7.40 7.36 - 7.42
PaO2 11.5 kPa 10.0 - 12.5
PaCO2 5.8 kPa 5.1 - 5.6
On auscultation, the infant has no murmur but a loud single S2. On palpation, there is a prominent ventricular pulse.
What is the most likely diagnosis?Your Answer: Tricuspid atresia
Correct Answer: Transposition of the great arteries
Explanation:The oxygen level is below 15 kPa, indicating a cyanotic heart defect. The most likely defect to present soon after birth is transposition of the great arteries, which is consistent with the examination findings. Pulmonary valve stenosis may also cause cyanosis if the lesion is large enough and is associated with Noonan syndrome. It produces a mid-systolic crescendo-decrescendo murmur. Tetralogy of Fallot is the most common cyanotic heart defect but typically presents between 1 and 6 months of age. It is characterized by a loud ejection systolic murmur that is most prominent at the left upper sternal edge and radiates to the axillae.
Understanding Transposition of the Great Arteries
Transposition of the great arteries (TGA) is a type of congenital heart disease that results in a lack of oxygenated blood flow to the body. This condition occurs when the aorticopulmonary septum fails to spiral during septation, causing the aorta to leave the right ventricle and the pulmonary trunk to leave the left ventricle. Children born to diabetic mothers are at a higher risk of developing TGA.
The clinical features of TGA include cyanosis, tachypnea, a loud single S2 heart sound, and a prominent right ventricular impulse. Chest x-rays may show an egg-on-side appearance.
To manage TGA, it is important to maintain the ductus arteriosus with prostaglandins. Surgical correction is the definitive treatment for this condition. Understanding the basic anatomical changes and clinical features of TGA can help with early diagnosis and appropriate management.
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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 17 month old girl comes to your GP clinic with symptoms of a viral URTI. While examining her, you notice some developmental concerns. What would be the most worrying sign?
Your Answer: Unable to say 6 individual words with meaning
Explanation:1. At 23-24 months, children typically have a vocabulary of 20-50 words and can form 2-word phrases with meaning.
2. Toilet training usually occurs at or after 3 years of age.
3. By 3 years of age, most children can stand briefly on one leg and hop by age 4.
4. Walking is typically achieved by 18 months, although most children will walk before 17 months.
5. It is common for 23-month-old children to engage in solitary play.Developmental milestones for speech and hearing are important indicators of a child’s growth and development. These milestones can help parents and caregivers track a child’s progress and identify any potential issues early on. At three months, a baby should be able to quieten to their parents’ voice and turn towards sound. They may also start to squeal. By six months, they should be able to produce double syllables like adah and erleh. At nine months, they may say mama and dada and understand the word no. By 12 months, they should know and respond to their own name and understand simple commands like give it to mummy.
Between 12 and 15 months, a child may know about 2-6 words and understand more complex commands. By two years old, they should be able to combine two words and point to parts of their body. Their vocabulary should be around 200 words by 2 1/2 years old. At three years old, they should be able to talk in short sentences and ask what and who questions. They may also be able to identify colors and count to 10. By four years old, they may start asking why, when, and how questions. These milestones are important to keep in mind as a child grows and develops their speech and hearing abilities.
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This question is part of the following fields:
- Paediatrics
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Question 5
Correct
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A toddler with macrosomia has had a difficult delivery, owing to shoulder dystocia. The obstetrician pulled the child’s head downwards towards the floor to disengage the anterior shoulder from below the pubic bones. When the child is having a check-up prior to discharge, the paediatrician notes that the left upper limb is adducted and medially rotated, with extension at the elbow joint. When questioned, the mother admits that the child has not been moving it.
What is the most likely diagnosis?Your Answer: Erb–Duchenne palsy due to trauma to the upper trunk of the brachial plexus
Explanation:Differentiating Brachial Plexus Injuries: Causes and Symptoms
The brachial plexus is a network of nerves that originates from the spinal cord and supplies the upper limb. Trauma to this network can result in various types of injuries, each with its own set of symptoms. Here are some of the common types of brachial plexus injuries and their distinguishing features:
Erb-Duchenne Palsy: This injury occurs due to trauma to the upper trunk of the brachial plexus, typically during obstructed labor or delivery. The affected muscles include those supplied by the musculocutaneous, radial, and axillary nerves, resulting in adduction and medial rotation of the arm, wrist drop, and sensory loss along the posterolateral aspect of the limb.
Isolated Radial Nerve Injury: This type of injury is associated with paralysis of the wrist and digital extensors, as well as the triceps. However, medial rotation of the humerus is not affected.
Klumpke’s Palsy: This injury is caused by trauma to the lower trunk of the brachial plexus, often during difficult delivery or sudden upward stretching of the upper limb. It results in claw hand due to damage to T1, causing paralysis of the short muscles of the hand.
Isolated Axillary Nerve Injury: With this type of injury, the wrist extensors function normally.
Isolated Musculocutaneous Nerve Injury: This injury is not associated with wrist drop.
In summary, understanding the specific symptoms associated with each type of brachial plexus injury can aid in accurate diagnosis and treatment.
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This question is part of the following fields:
- Paediatrics
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Question 6
Incorrect
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A 9-year-old boy has been experiencing progressive gait disturbance and falls. He was initially evaluated by a paediatric neurologist at the age of 5 years due to unsteady gait and toe walking. His gait unsteadiness began around the age of 4 years with frequent falls, and he had also developed hand tremors prior to this visit. Upon further examination, he was found to have pes cavus, mild scoliosis, and no cardiac murmur. What is the mode of inheritance for the underlying condition?
Your Answer: Mitochondrial
Correct Answer: Autosomal recessive
Explanation:Friedreich’s ataxia is inherited in an autosomal recessive manner. This is the most common type of hereditary ataxia and typically presents with symptoms before the age of 25, including ataxia, cardiomyopathy, motor weakness, pes cavus foot deformity, and scoliosis. It should be noted that Friedreich’s ataxia is not inherited in an autosomal dominant or X-linked recessive manner, nor is it caused by mitochondrial dysfunction.
Autosomal Recessive Conditions
Autosomal recessive conditions are genetic disorders that occur when an individual inherits two copies of a mutated gene, one from each parent. These conditions are often referred to as ‘metabolic’ as they affect the body’s metabolic processes. However, there are notable exceptions, such as X-linked recessive conditions like Hunter’s and G6PD, and autosomal dominant conditions like hyperlipidemia type II and hypokalemic periodic paralysis.
Some ‘structural’ conditions, like ataxia telangiectasia and Friedreich’s ataxia, are also autosomal recessive. The following conditions are examples of autosomal recessive disorders: albinism, congenital adrenal hyperplasia, cystic fibrosis, cystinuria, familial Mediterranean fever, Fanconi anemia, glycogen storage disease, haemochromatosis, homocystinuria, lipid storage disease (Tay-Sach’s, Gaucher, Niemann-Pick), mucopolysaccharidoses (Hurler’s), PKU, sickle cell anemia, thalassemias, and Wilson’s disease.
It is worth noting that Gilbert’s syndrome is still a matter of debate, and many textbooks list it as autosomal dominant. Nonetheless, understanding the inheritance patterns of these conditions is crucial for genetic counseling and management.
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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 16-year-old girl from Manchester is presented to the emergency room by her father with complaints of abdominal discomfort for the past 48 hours. Upon examination, there is a suspicion of appendicitis and a recommendation for hospitalization is made. However, the patient refuses to be admitted as she has a concert to attend tonight. Despite being fully informed of the potential consequences of untreated appendicitis, she insists on leaving. What is the best course of action in this scenario?
Your Answer: His mother may overrule his wishes
Explanation:In England and Wales, a child can provide consent for treatment, but cannot decline it. The demonstration of capacity, as per the Fraser guidelines, is not a significant factor.
Guidelines for Obtaining Consent in Children
The General Medical Council has provided guidelines for obtaining consent in children. According to these guidelines, young people who are 16 years or older can be treated as adults and are presumed to have the capacity to make decisions. However, for children under the age of 16, their ability to understand what is involved determines whether they have the capacity to decide. If a competent child refuses treatment, a person with parental responsibility or the court may authorize investigation or treatment that is in the child’s best interests.
When it comes to providing contraceptives to patients under 16 years of age, the Fraser Guidelines must be followed. These guidelines state that the young person must understand the professional’s advice, cannot be persuaded to inform their parents, is likely to begin or continue having sexual intercourse with or without contraceptive treatment, and will suffer physical or mental health consequences without contraceptive treatment. Additionally, the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent.
Some doctors use the term Fraser competency when referring to contraception and Gillick competency when referring to general issues of consent in children. However, rumors that Victoria Gillick removed her permission to use her name or applied copyright have been debunked. It is important to note that in Scotland, those with parental responsibility cannot authorize procedures that a competent child has refused.
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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 6 month old infant presents to the hospital with a fever. Upon examination, there are no respiratory symptoms or signs of diarrhea. What initial investigations would you include in your assessment?
Your Answer: Blood culture
Explanation:When evaluating infants under 3 months with a fever, the following tests should be conducted: a complete blood count, blood culture, C-reactive protein test, urine analysis to check for urinary tract infections, and a chest X-ray if respiratory symptoms are present. Additionally, a stool culture should be performed if the infant is experiencing diarrhea.
The NICE Feverish illness in children guidelines were introduced in 2007 and updated in 2013. These guidelines use a ‘traffic light’ system to assess the risk of children under 5 years old presenting with a fever. It is important to note that these guidelines only apply until a clinical diagnosis of the underlying condition has been made. When assessing a febrile child, their temperature, heart rate, respiratory rate, and capillary refill time should be recorded. Signs of dehydration should also be looked for. Measuring temperature should be done with an electronic thermometer in the axilla if the child is under 4 weeks old or with an electronic/chemical dot thermometer in the axilla or an infrared tympanic thermometer.
The risk stratification table includes green for low risk, amber for intermediate risk, and red for high risk. The table includes categories such as color, activity, respiratory, circulation and hydration, and other symptoms. If a child is categorized as green, they can be managed at home with appropriate care advice. If they are categorized as amber, parents should be provided with a safety net or referred to a pediatric specialist for further assessment. If a child is categorized as red, they should be urgently referred to a pediatric specialist. It is important to note that oral antibiotics should not be prescribed to children with fever without an apparent source, and a chest x-ray does not need to be routinely performed if a pneumonia is suspected but the child is not going to be referred to the hospital.
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This question is part of the following fields:
- Paediatrics
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Question 9
Correct
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A 10-day-old preterm neonate is having difficulty tolerating cow's milk feeds administered by the nurses in the special care baby unit. During the most recent feed, the neonate vomited and the nurse observed bile in the vomit. Although the stools are of normal consistency, the last stool contained fresh red blood. Upon examination, the neonate appears to be well hydrated, but the abdomen is significantly distended. An urgent abdominal x-ray is ordered, which reveals distended loops of bowel with thickening of the bowel wall. What is the next course of action in managing this situation?
Your Answer: Commence broad spectrum antibiotics
Explanation:The infant in this scenario is likely suffering from bacterial necrotising enterocolitis, given their prematurity and symptoms. Immediate administration of broad spectrum antibiotics is necessary due to the severity of the condition. Therefore, the correct answer is option 2. While changing feeds may be helpful in preventing necrotising enterocolitis in bottle-fed infants, it is not useful in treating the condition once it has developed. While IV fluids are important for maintaining hydration, they are not as urgent as antibiotics in this case. Antenatal administration of erythromycin is intended to prevent necrotising enterocolitis, but it is not effective in treating the condition once it has developed.
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 10
Correct
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A father attends his GP to discuss concerns he has about his 12-year-old daughter. Since the age of three, she has had a lot of routines, such as how she organizes her toys and which way she walks to school, and is very rigid about following them. She does not cope at all well with changes to the routine. She struggles to make friends and seems very uncomfortable in social situations. Apart from going to school, she avoids meeting children; she has been to a few birthday parties, but she was very clingy to her father and demanded to be taken home after a few minutes. On examination, the GP is unable to build a rapport with the girl, as she refuses to speak and will not maintain eye contact. She appears fidgety and gets up and down out of her chair on several occasions to try and leave the room. You suspect a diagnosis but advise her father that more assessment will be needed to confirm a diagnosis.
The sign to support the diagnosis is the child's rigid adherence to routines and difficulty coping with changes to the routine, as well as their struggles with social situations and avoidance of meeting other children.Your Answer: Less than ten spoken words by age two years
Explanation:Developmental Milestones and Red Flags in Early Childhood
By the age of two years, children should be using 50 or more words. If they do not meet this milestone, there may be a social, speech or hearing issue that needs to be assessed by a paediatric team. Lack of spoken words could be a sign of autistic spectrum disorder (ASD).
A lack of social smile by age three months is considered abnormal and could indicate a social, visual, or cognitive problem. However, it may also signal ASD in some cases.
Parallel play is normal behavior for two-year-olds. They will happily play next to each other but rarely play with each other. It isn’t until the age of three when they usually start to involve other children in playing.
Separation anxiety from parents or carers at age ten months is normal behavior. Children can become upset if they are not with their parents or carer until the new person becomes more familiar to them, usually between the ages of six months and three years.
Temper tantrums at age 18 months are normal behavior. However, if these tantrums persist into later childhood, it could indicate a social or developmental problem.
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This question is part of the following fields:
- Paediatrics
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Question 11
Incorrect
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A 14-year-old girl presents to the emergency department with symptoms of a cold. She has been experiencing a fever, runny nose, headache, and a dry cough for a few days. Despite taking paracetamol and ibuprofen, her temperature has not gone down, which worries her mother. The patient is alert, comfortable, and well-hydrated. During the examination, her temperature is 38.9ºC, heart rate is 110 bpm, blood pressure is 90/70 mmHg, and respiratory rate is 26 breaths per minute. Her chest is clear, throat is slightly red, and there are no signs of tonsillitis. Otoscopy shows no abnormalities, and her ears are non-tender. There are no rashes, photophobia, or neck stiffness. What is the appropriate management for this patient?
Your Answer: Give the patient another dose of paracetamol and ibuprofen and review in an hour to assess for improvement
Correct Answer: Initiate sepsis six protocol
Explanation:Children over the age of 12 have vital signs similar to adults. However, if a child presents with symptoms of sepsis, such as a high temperature, elevated heart rate, low blood pressure, and increased respiratory rate, it is important to initiate the sepsis six protocol and conduct further investigations to determine the source of infection. In such cases, it is not appropriate to send the child home or administer additional doses of antipyretics. Aspirin should not be given to children due to the risk of Reye’s syndrome. Broad-spectrum IV antibiotics should be administered if there is a suspected bacterial infection causing sepsis.
Age-appropriate Vital Signs for Children
Paediatric vital signs vary depending on the age of the child. The table below provides age-appropriate ranges for heart rate and respiratory rate. For children under one year old, a heart rate of 110-160 beats per minute and a respiratory rate of 30-40 breaths per minute is considered normal. For children between the ages of one and two, a heart rate of 100-150 beats per minute and a respiratory rate of 25-35 breaths per minute is normal. Children between the ages of two and five should have a heart rate of 90-140 beats per minute and a respiratory rate of 25-30 breaths per minute. For children between the ages of five and twelve, a heart rate of 80-120 beats per minute and a respiratory rate of 20-25 breaths per minute is normal. Finally, for children over the age of twelve, a heart rate of 60-100 beats per minute and a respiratory rate of 15-20 breaths per minute is considered normal. It is important for healthcare professionals to be aware of these age-appropriate vital sign ranges in order to properly assess the health of children.
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This question is part of the following fields:
- Paediatrics
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Question 12
Correct
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A 35-year-old woman delivers a male infant who presents with low muscle tone and is later diagnosed with Down's syndrome. Which of the following features is the least probable in this case?
Your Answer: Rocker-bottom feet
Explanation:Understanding the features of Down’s syndrome is crucial for clinical practice and final examinations. The correct answer to this question is option 4. While rocker-bottom feet are a characteristic of trisomy 18 or Edward’s syndrome, they are not typically observed in individuals with Down’s syndrome.
Down’s syndrome is a genetic disorder that is characterized by various clinical features. These features include an upslanting of the palpebral fissures, epicanthic folds, Brushfield spots in the iris, a protruding tongue, small low-set ears, and a round or flat face. Additionally, individuals with Down’s syndrome may have a flat occiput, a single palmar crease, and a pronounced sandal gap between their big and first toe. Hypotonia, congenital heart defects, duodenal atresia, and Hirschsprung’s disease are also common in individuals with Down’s syndrome.
Cardiac complications are also prevalent in individuals with Down’s syndrome, with multiple cardiac problems potentially present. The most common cardiac defect is the endocardial cushion defect, also known as atrioventricular septal canal defects, which affects 40% of individuals with Down’s syndrome. Other cardiac defects include ventricular septal defect, secundum atrial septal defect, tetralogy of Fallot, and isolated patent ductus arteriosus.
Later complications of Down’s syndrome include subfertility, learning difficulties, short stature, repeated respiratory infections, hearing impairment from glue ear, acute lymphoblastic leukaemia, hypothyroidism, Alzheimer’s disease, and atlantoaxial instability. Males with Down’s syndrome are almost always infertile due to impaired spermatogenesis, while females are usually subfertile and have an increased incidence of problems with pregnancy and labour.
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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 12-year-old girl comes to the paediatric outpatient departments with a height of 142 cm, which is below the 0.4th centile. Upon examination, she has an immature-appearing face and a significantly delayed bone age on wrist x-ray. Her TSH levels are normal, and she is at an appropriate Tanner stage. It is noted that her mother had her menarche at the age of 11 years. What is the probable diagnosis for this patient?
Your Answer: Constitutional delay
Correct Answer: Growth hormone deficiency
Explanation:Growth Hormone Deficiency as a Cause of Short Stature in Pubescent Girls
A girl who has gone through puberty but has not gained height may have growth hormone deficiency. This condition is characterized by a discrepancy between the girl’s bone age and chronological age, as well as a doll-like face that gives her an immature appearance. Growth hormone deficiency is a rare but significant cause of short stature, as it can be a symptom of an underlying disease and can be treated with replacement injections.
In some cases, GH deficiency may be caused by intracerebral masses, particularly craniopharyngiomas in 7- to 10-year-olds. However, if a chronic illness were the cause, such as coeliac disease or Cushing syndrome, it would likely delay puberty and result in an inappropriately young Tanner stage. The girl would also be expected to exhibit features of the chronic condition.
It is important to note that this girl is not suffering from constitutional delay, as she has already entered puberty and has appropriate Tanner staging. Constitutional delay is typically characterized by a family history and delayed menarche in the affected individual. Therefore, growth hormone deficiency should be considered as a potential cause of short stature in pubescent girls who have not gained height despite going through puberty.
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This question is part of the following fields:
- Paediatrics
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Question 14
Correct
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A 15-year-old boy is presented to the General Practitioner by his mother who reports that he has been having difficulties at school for the past year. The patient has a medical history of recurrent otitis media. The mother mentions that her nephew and niece have both required extra assistance at school, and the latter has been diagnosed with Attention Deficit Hyperactivity Disorder (ADHD). The patient had a normal birth history and early childhood development. On examination, he has an elongated face and protruding ears. What is the most probable diagnosis?
Your Answer: Fragile X syndrome
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 15
Incorrect
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When is the infant blood spot screening test typically performed in the United Kingdom?
Your Answer: On fourth day of life
Correct Answer: Between fifth and ninth day of life
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 16
Correct
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At what developmental stage would a child have the ability to briefly sit while leaning forward on their hands, grasp a cube and transfer it from hand to hand, babble, but not yet wave goodbye or use their finger and thumb to grasp objects?
Your Answer: 7 months
Explanation:Developmental Milestones at 7 Months
At 7 months, babies reach several developmental milestones. They are able to sit without support, which means they can sit up straight and maintain their balance without falling over. They also start to reach for objects with a sweeping motion, using their arms to grab things that catch their attention. Additionally, they begin to imitate speech sounds, such as babbling and making noises with their mouths.
Half of babies at this age can combine syllables into wordlike sounds, which is an important step towards language development. They may start to say simple words like mama or dada and understand the meaning behind them. Finally, many babies begin to crawl or lunge forward, which is a major milestone in their physical development. Overall, 7 months is an exciting time for babies as they continue to grow and develop new skills.
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This question is part of the following fields:
- Paediatrics
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Question 17
Correct
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An infant is found to be cyanotic shortly after birth. A chest X-ray reveals a ‘boot-shaped’ heart, and a holosystolic murmur is heard at the left lower sternal border.
What other finding is probable in this infant?Your Answer: Right ventricular outflow tract obstruction
Explanation:Cyanotic Neonate with Boot-Shaped Heart: Tetralogy of Fallot
Tetralogy of Fallot (TOF) is a congenital heart defect that can present as a cyanotic neonate with a boot-shaped heart and a holosystolic murmur loudest at the left sternal border. This condition is characterized by four morphologic features: right ventricular hypertrophy, right ventricular outflow tract obstruction secondary to pulmonary stenosis, ventricular septal defect, and overriding aorta. These features develop due to anterosuperior displacement of the infundibular septum during fetal development.
A fixed, widely split S2 would indicate an atrial septal defect (ASD), which is a form of acyanotic heart disease and would not explain the radiograph findings in this scenario. A decrescendo, diastolic murmur at the right upper sternal border would suggest aortic regurgitation, which is not a cause of cyanotic heart disease in neonates. A harsh crescendo–decrescendo systolic murmur at the right upper sternal border would suggest aortic stenosis, which is also not a cause of cyanotic heart disease in neonates.
Therefore, a cyanotic neonate with a boot-shaped heart and a holosystolic murmur loudest at the left sternal border is likely to have TOF. These patients can be born cyanotic, or cyanosis can develop after birth as a left-to-right shunt undergoes Eisenmenger syndrome and becomes a right-to-left shunt.
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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 3-year-old child is brought by her mother to the general practice surgery with a 3-day history of fever, irritability and right ear pain, which suddenly became more severe 12 hours ago and then resolved with the onset of a discharge from the right ear. On examination, you find a tympanic membrane with a central perforation.
What is the most appropriate management plan?Your Answer: Refer to the acute Ear, Nose and Throat (ENT) clinic for assessment
Correct Answer: Commence oral antibiotics and review after 6 weeks to ensure the perforation is healing
Explanation:Acute otitis media with perforation is an inflammation of the middle ear that lasts less than 3 weeks and is commonly seen in children under 10 years old. It can be caused by viruses or bacteria, with Haemophilus influenzae, Streptococcus pneumoniae, and respiratory syncytial virus being the most common culprits. Symptoms include earache, fever, and irritability, and examination reveals a red, cloudy tympanic membrane that may be bulging or perforated. Complications can include temporary hearing loss, mastoiditis, and meningitis. Treatment involves pain relief and a course of oral antibiotics, with routine referral to ENT only necessary for recurrent symptoms or those that fail to resolve with antibiotics. Gentamicin is contraindicated in the presence of a tympanic perforation due to its ototoxicity, and amoxicillin is the first-line antibiotic treatment.
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This question is part of the following fields:
- Paediatrics
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Question 19
Correct
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A 35-year-old man has been experiencing muscle weakness and cramps, and after extensive investigation, it has been determined that he has a rare form of myopathy. His family history reveals that his mother, maternal grandmother, brother, maternal aunt, and her two sons are all affected by the same condition. Interestingly, his maternal uncle has the disease, but none of his children do. There is no evidence of the disease on the paternal side, and his wife has no family history of the disorder. What is the likelihood that his biological children will inherit the myopathy from him?
Your Answer: 0%
Explanation:Mitochondrial Diseases: Inheritance and Histology
Mitochondrial diseases are caused by mutations in the small amount of double-stranded DNA present in the mitochondria. This DNA encodes protein components of the respiratory chain and some special types of RNA. Mitochondrial inheritance has unique characteristics, including inheritance only via the maternal line and none of the children of an affected male inheriting the disease. However, all of the children of an affected female will inherit the disease. These diseases generally encode rare neurological diseases and have a poor genotype-phenotype correlation due to heteroplasmy, where different mitochondrial populations exist within a tissue or cell.
Histologically, muscle biopsy shows red, ragged fibers due to an increased number of mitochondria. Some examples of mitochondrial diseases include Leber’s optic atrophy, MELAS syndrome (mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes), MERRF syndrome (myoclonus epilepsy with ragged-red fibers), Kearns-Sayre syndrome (onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa, and ptosis may be seen), and sensorineural hearing loss.
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This question is part of the following fields:
- Paediatrics
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Question 20
Incorrect
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You are in a genetics clinic and explaining to a couple the reason why their daughter has Prader-Willi syndrome. What is the term used to describe the mode of inheritance for Prader-Willi syndrome?
Your Answer: Variable expressivity
Correct Answer: Imprinting
Explanation:Prader-Willi is an instance of imprinting, where the patient does not inherit the gene from their father. Although the mother’s gene may be normal, the phenotype can still occur, resulting in learning difficulties, hypotonia, obesity, and an insatiable appetite.
Autosomal recessive occurs when a person inherits a defective gene from both parents, leading to the development of a particular condition. Cystic fibrosis is an example of this.
Autosomal dominant only requires the inheritance of one defective gene from either parent to develop a condition. Huntington’s disease is an example of this.
Pleiotropy refers to a single gene causing multiple clinical effects that may seem unrelated when defective.
Variable expressivity occurs when an inherited genetic defect results in varying levels of clinical effects.
Prader-Willi Syndrome: A Genetic Imprinting Disorder
Prader-Willi syndrome is a genetic disorder that is caused by the absence of the active Prader-Willi gene on chromosome 15. This disorder is an example of genetic imprinting, where the phenotype of the individual depends on whether the deletion occurs on a gene inherited from the mother or father. If the gene is deleted from the father, it results in Prader-Willi syndrome, while if it is deleted from the mother, it results in Angelman syndrome.
There are two main causes of Prader-Willi syndrome: microdeletion of paternal 15q11-13, which accounts for 70% of cases, and maternal uniparental disomy of chromosome 15. Individuals with Prader-Willi syndrome exhibit a range of symptoms, including hypotonia during infancy, dysmorphic features, short stature, hypogonadism and infertility, learning difficulties, childhood obesity, and behavioral problems in adolescence.
In summary, Prader-Willi syndrome is a genetic disorder that results from the absence of the active Prader-Willi gene on chromosome 15. It is an example of genetic imprinting, and the phenotype of the individual depends on whether the deletion occurs on a gene inherited from the mother or father. Individuals with Prader-Willi syndrome exhibit a range of symptoms, and the disorder can be caused by microdeletion of paternal 15q11-13 or maternal uniparental disomy of chromosome 15.
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This question is part of the following fields:
- Paediatrics
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