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Question 1
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 2
Incorrect
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A 4-year-old child is presented to your allergy clinic by anxious parents. The child has a previous medical record of a mild non-IgE mediated egg allergy. What course of action would you suggest?
Your Answer: Gradual reintroduction of egg based products using the egg ladder starting with scrambled egg
Correct Answer: Gradual reintroduction of egg based products using the egg ladder
Explanation:The egg ladder can be used to reintroduce egg in children with non-IgE mediated allergy, starting with baked egg in biscuits. Chlorpheniramine and adrenaline pen are not appropriate choices.
Identifying and Managing Food Allergies in Children and Young People
Food allergies in children and young people can be categorized into IgE-mediated and non-IgE-mediated allergies. It is important to note that food intolerance is not caused by immune system dysfunction and is not covered by the 2011 NICE guidelines. Symptoms of IgE-mediated allergies include skin reactions such as pruritus, erythema, urticaria, and angioedema, gastrointestinal symptoms like nausea, colicky abdominal pain, vomiting, and diarrhea, and respiratory symptoms such as nasal itching, sneezing, rhinorrhea, congestion, cough, chest tightness, wheezing, and shortness of breath. Non-IgE-mediated allergies may present with symptoms like gastro-oesophageal reflux disease, loose or frequent stools, blood and/or mucus in stools, abdominal pain, infantile colic, food refusal or aversion, constipation, perianal redness, pallor and tiredness, and faltering growth.
If the history suggests an IgE-mediated allergy, skin prick tests or blood tests for specific IgE antibodies to the suspected foods and likely co-allergens should be offered. On the other hand, if the history suggests a non-IgE-mediated allergy, the suspected allergen should be eliminated for 2-6 weeks and then reintroduced. It is recommended to consult a dietitian with appropriate competencies about nutritional adequacies, timings, and follow-up. By identifying and managing food allergies in children and young people, we can prevent severe allergic reactions and improve their quality of life.
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This question is part of the following fields:
- Paediatrics
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Question 3
Correct
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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: 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 4
Correct
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As a second-year foundation doctor in the emergency department, you come across a thirteen-year-old patient complaining of right hip pain and a limp. The patient has a mild fever, but all other observations and blood tests are normal. An X-ray also shows no abnormalities. What is the probable diagnosis?
Your Answer: Transient synovitis
Explanation:Transient synovitis, also known as irritable hip, is a common childhood condition that presents with sudden onset pain and limping. It is diagnosed by ruling out other possible causes and typically resolves on its own within 1-2 weeks. While trauma or non-accidental injury may be a factor, this would likely be revealed in the patient’s medical history. However, doctors should remain vigilant for signs of non-accidental injury. Although septic arthritis is a possibility, it is unlikely in cases where blood tests are normal. Slipped Upper Femoral Epiphysis (SUFE), which causes groin pain and a waddling gait, can be ruled out based on its characteristic x-ray findings.
Transient synovitis, also known as irritable hip, is a common cause of hip pain in children aged 3-8 years. It typically occurs following a recent viral infection and presents with symptoms such as groin or hip pain, limping or refusal to weight bear, and occasionally a low-grade fever. However, a high fever may indicate other serious conditions such as septic arthritis, which requires urgent specialist assessment. To exclude such diagnoses, NICE Clinical Knowledge Summaries recommend monitoring children in primary care with a presumptive diagnosis of transient synovitis, provided they are aged 3-9 years, well, afebrile, mobile but limping, and have had symptoms for less than 72 hours. Treatment for transient synovitis involves rest and analgesia, as the condition is self-limiting.
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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 mother brings her 14-year-old daughter to the general practice with concerns about her delayed onset of periods. During the examination, the daughter is found to be in the 9th percentile for her age in terms of height, has short ring fingers, poor breast development, and a high arched palate. While listening to her heart, a crescendo-decrescendo murmur is heard on the upper right sternal border that radiates to the carotids. What is the probable cause of this murmur?
Your Answer: Bicuspid valve
Explanation:A 16-year-old girl presents with symptoms of shortness of breath, chest pain, and fatigue. Upon examination, a heart murmur is detected in the aortic region, which is described as a crescendo-decrescendo murmur. The possible causes of this murmur are considered, including aortic stenosis, aortic valve calcification, rheumatic heart disease, and Tetralogy of Fallot. However, based on the patient’s age and symptoms, aortic stenosis is the most likely diagnosis.
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 6
Incorrect
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A 6-year-old girl presents to the emergency department with a 5-day history of fever and lethargy. She has no significant medical history and is up to date with her childhood vaccinations.
During the examination, the girl appears drowsy and has a temperature of 39.2ºC. Her heart rate is 155 beats/min and respiratory rate is 46 breaths/min. She has a maculopapular rash on her torso and upper limbs, and her lips are cracked and erythematous. Additionally, her conjunctivae are inflamed. Kernig's sign is negative.
What is the most appropriate management for this patient, given the likely diagnosis?Your Answer: Paracetamol and rehydration therapy
Correct Answer: Aspirin
Explanation:High-dose aspirin therapy is the recommended treatment for Kawasaki disease, despite it typically being contraindicated in children.
Aspirin is the appropriate treatment for this patient’s diagnosis of Kawasaki disease, as evidenced by their persistent fever, conjunctivitis, maculopapular rash, and cracked and erythematous lips. This disease is vasculitic in nature, and current guidelines advise the use of high-dose aspirin therapy as the initial treatment.
Intravenous aciclovir is not indicated for Kawasaki disease, as it is used to treat viral conditions such as viral meningitis or encephalitis.
Intravenous ceftriaxone is not appropriate for the treatment of Kawasaki disease, as it is reserved for significant bacterial infections like Neisseria meningitidis. Additionally, the negative Kernig’s sign makes meningitis less likely.
Oral phenoxymethylpenicillin is not the recommended treatment for Kawasaki disease, as the mucosal changes and conjunctivitis are more indicative of this disease rather than scarlet fever, which is treated with oral phenoxymethylpenicillin.
Understanding Kawasaki Disease
Kawasaki disease is a rare type of vasculitis that primarily affects children. It is important to identify this disease early on as it can lead to serious complications, such as coronary artery aneurysms. The disease is characterized by a high-grade fever that lasts for more than five days and is resistant to antipyretics. Other symptoms include conjunctival injection, bright red, cracked lips, strawberry tongue, cervical lymphadenopathy, and red palms and soles that later peel.
Diagnosis of Kawasaki disease is based on clinical presentation as there is no specific diagnostic test available. Management of the disease involves high-dose aspirin, which is one of the few indications for aspirin use in children. Intravenous immunoglobulin is also used as a treatment option. Echocardiogram is the initial screening test for coronary artery aneurysms, rather than angiography.
Complications of Kawasaki disease can be serious, with coronary artery aneurysm being the most common. It is important to recognize the symptoms of Kawasaki disease early on and seek medical attention promptly to prevent potential complications.
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This question is part of the following fields:
- Paediatrics
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Question 7
Incorrect
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What is a contraindication for receiving the pneumococcal vaccine in individuals under the age of 2?
Your Answer: Splenectomy in past
Correct Answer: Current febrile illness
Explanation:Immunisation is the process of administering vaccines to protect individuals from infectious diseases. The Department of Health has provided guidance on the safe administration of vaccines in its publication ‘Immunisation against infectious disease’ in 2006. The guidance outlines general contraindications to immunisation, such as confirmed anaphylactic reactions to previous doses of a vaccine containing the same antigens or another component contained in the relevant vaccine. Vaccines should also be delayed in cases of febrile illness or intercurrent infection. Live vaccines should not be administered to pregnant women or individuals with immunosuppression.
Specific vaccines may have their own contraindications, such as deferring DTP vaccination in children with an evolving or unstable neurological condition. However, there are no contraindications to immunisation for individuals with asthma or eczema, a history of seizures (unless associated with fever), or a family history of autism. Additionally, previous natural infections with pertussis, measles, mumps, or rubella do not preclude immunisation. Other factors such as neurological conditions like Down’s or cerebral palsy, low birth weight or prematurity, and patients on replacement steroids (e.g. CAH) also do not contraindicate immunisation.
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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 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 9
Correct
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A 7-year-old boy comes to the clinic with his father, complaining of a rash. The father reports that his son has been feeling unwell for approximately 6 days. Three days ago, he noticed some red rash behind his son's ears and it has now spread to his face and body. He also observed some white spots in his son's mouth before the rash appeared. During examination, there is a widespread maculopapular rash with regions of confluence.
What is the probable diagnosis?Your Answer: Measles
Explanation:The symptoms of measles include prodromal symptoms, Koplik spots, and a maculopapular rash that starts behind the ears. Kawasaki’s disease is identified by a fever lasting more than five days, along with conjunctivitis, cervical lymphadenopathy, a strawberry tongue, rash, and desquamation of digits. Chickenpox is characterized by the presence of vesicles, while scarlet fever is identified by a sandpaper rash and a strawberry tongue.
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 10
Correct
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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: 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 11
Incorrect
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A 5-year-old boy presents with learning difficulties and macrocephaly. What is the probable diagnosis?
Your Answer: William's syndrome
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 12
Correct
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A 9-year-old boy is presented to the GP by his mother due to the development of a limp. The mother noticed that his left hip was sore and stiff about a month ago. The pain has gradually worsened, making it difficult for the boy to walk and causing significant discomfort. The boy has a normal developmental history and is otherwise healthy. What is the probable underlying cause of his symptoms?
Your Answer: Avascular necrosis
Explanation:Perthes’ disease is characterized by a lack of blood supply to the femoral head, leading to its necrosis and resulting in symptoms such as hip pain, stiffness, and limping. These symptoms are consistent with the presentation of a young boy experiencing progressive hip pain and reduced range of motion. The age of onset for Perthes’ disease typically falls within the range of 6-8 years old, further supporting this diagnosis.
While an epiphyseal plate fracture can also cause pain and limping, it is typically the result of a traumatic injury, which is not the case in this scenario. Slipped upper femoral epiphysis (SUFE) is another potential cause of hip pain and limping, but it typically affects older children and progresses more slowly over several months. Septic arthritis, on the other hand, is a medical emergency characterized by acute joint pain, swelling, and systemic symptoms, which are not present in this case.
Understanding Perthes’ Disease
Perthes’ disease is a degenerative condition that affects the hip joints of children, typically between the ages of 4-8 years. It is caused by a lack of blood supply to the femoral head, which leads to bone infarction and avascular necrosis. This condition is more common in boys, with around 10% of cases being bilateral. The symptoms of Perthes’ disease include hip pain, stiffness, reduced range of hip movement, and a limp. Early changes can be seen on an x-ray, such as widening of the joint space, while later changes include decreased femoral head size and flattening.
To diagnose Perthes’ disease, a plain x-ray is usually sufficient. However, if symptoms persist and the x-ray is normal, a technetium bone scan or magnetic resonance imaging may be necessary. If left untreated, Perthes’ disease can lead to complications such as osteoarthritis and premature fusion of the growth plates.
The severity of Perthes’ disease is classified using the Catterall staging system, which ranges from stage 1 (clinical and histological features only) to stage 4 (loss of acetabular integrity). Treatment options include keeping the femoral head within the acetabulum using a cast or braces, observation for children under 6 years old, and surgical management for older children with severe deformities. The prognosis for Perthes’ disease is generally good, with most cases resolving with conservative management. Early diagnosis is key to improving outcomes.
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This question is part of the following fields:
- Paediatrics
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Question 13
Correct
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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: 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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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: 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 15
Incorrect
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A 28-year-old woman delivers a baby girl at 39 weeks gestation using ventouse delivery. She expresses concern to one of the doctors about a lump on her baby's forehead. Upon examination, the neonate has a soft, puffy swelling that crosses suture lines on the vertex. What is the most likely diagnosis, and what advice should be given to the mother?
Your Answer: Resolves within a few months
Correct Answer: Resolves within a few days
Explanation:Caput succedaneum is a swollen area that typically appears over the presenting part and extends across suture lines. In this case, the diagnosis is caput succedaneum, which occurred after a traumatic delivery (ventouse). The mother should be informed that no intervention is necessary as the swelling will subside within a few days. It would be inappropriate to advise the mother that immediate medical or surgical intervention is required. Unlike cephalohaematoma, which takes months to resolve and does not cross suture lines, caput succedaneum resolves within a few days. Therefore, advising the mother that it will take a few months or years to resolve would be inaccurate.
Understanding Caput Succedaneum
Caput succedaneum is a condition that refers to the swelling of the scalp at the top of the head, usually at the vertex. This swelling is caused by the mechanical trauma that occurs during delivery, particularly in prolonged deliveries or those that involve the use of vacuum delivery. The condition is characterized by soft, puffy swelling due to localized edema that crosses suture lines.
Compared to cephalohaematoma, which is a collection of blood under the scalp, caput succedaneum is caused by edema. While cephalohaematoma is limited to a specific area and does not cross suture lines, caput succedaneum can affect a larger area and cross suture lines. Fortunately, no treatment is needed for caput succedaneum, as the swelling usually 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 16
Correct
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A 6-year-old boy is brought to the Emergency Department by his parents. He has been feeling unwell for 6 days with diarrhoea and is now lethargic and pale. Despite drinking enough fluids, he has not urinated in over 14 hours. The child has no medical history and has received all of his vaccinations. His symptoms began 3 days after he ate a chicken burger at a fair. During the examination, the doctor noticed multiple petechiae on his torso and limbs, and his feet were swollen. What is the likely diagnosis, and what is the organism responsible for this patient's illness?
Your Answer: Escherichia coli
Explanation:This child’s symptoms, including oliguria, peripheral edema, petechial bruising, and pallor, suggest the possibility of hemolytic uremic syndrome (HUS). HUS is often associated with diarrheal illnesses and is characterized by normocytic anemia, thrombocytopenia, and acute kidney injury. The most common cause of HUS is Shiga-toxin producing Escherichia coli, which can be contracted from undercooked meat, such as a chicken burger from a carnival. While Campylobacter jejuni is a common cause of acute diarrhea, it is not typically associated with HUS. Clostridium perfringens can cause acute diarrhea and vomiting but is not associated with HUS. Salmonella species can also cause diarrheal illnesses, but they are not a common cause of HUS. In this case, Escherichia coli is the most likely causative organism.
Understanding Haemolytic Uraemic Syndrome
Haemolytic uraemic syndrome (HUS) is a condition that primarily affects young children and is characterized by a triad of symptoms, including acute kidney injury, microangiopathic haemolytic anaemia, and thrombocytopenia. The majority of cases are secondary and caused by Shiga toxin-producing Escherichia coli (STEC) 0157:H7, also known as ‘verotoxigenic’ or ‘enterohaemorrhagic’. Other causes of HUS include pneumococcal infection, HIV, systemic lupus erythematosus, drugs, and cancer. Primary HUS, also known as ‘atypical’, is caused by complement dysregulation.
To diagnose HUS, doctors may perform a full blood count to check for microangiopathic hemolytic anaemia and thrombocytopenia. A fragmented blood film may also be done to look for schistocytes and helmet cells. Additionally, a stool culture may be performed to check for evidence of STEC infection, and PCR for Shiga toxins may be done.
Treatment for HUS is supportive and may include fluids, blood transfusion, and dialysis if required. Antibiotics are not recommended, despite the preceding diarrhoeal illness in many patients. Plasma exchange may be considered for severe cases of HUS not associated with diarrhoea, while eculizumab, a C5 inhibitor monoclonal antibody, has shown greater efficiency than plasma exchange alone in the treatment of adult atypical HUS.
Overall, understanding the causes, symptoms, and management of HUS is crucial for healthcare professionals to provide appropriate care for patients with this condition.
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This question is part of the following fields:
- Paediatrics
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Question 17
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: Assess using Fraser guidelines + prescribe the COC
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 18
Incorrect
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A 12-year-old boy comes to the clinic with a history of headaches for the past 6 months. He reports experiencing these headaches once every few weeks, with each episode lasting for a day. Prior to the onset of the headache, he sees zig-zag lines. The headaches are typically on the right side of his head, accompanied by nausea and occasional vomiting. He finds some relief by sleeping in a dark, quiet room. Apart from this, he is healthy.
What is the initial approach to managing his condition?Your Answer: Sumatriptan nasal spray
Correct Answer: Oral ibuprofen
Explanation:The recommended initial treatment for paediatric migraines is ibuprofen. Sumatriptan nasal spray is only approved for use in children over the age of 12, and oral sumatriptan is not approved for those under 18. Codeine and oramorph are not recommended for treating migraines in children. Indomethacin is also not typically used for paediatric migraines.
Understanding Headaches in Children
Headaches are a common occurrence in children, with up to 50% of 7-year-olds and 80% of 15-year-olds experiencing at least one headache. Migraine without aura is the most common cause of primary headache in children, with a strong female preponderance after puberty. The International Headache Society has produced criteria for diagnosing pediatric migraine without aura, which includes headache attacks lasting 4-72 hours, with at least two of four specific features and accompanying symptoms such as nausea and vomiting.
When it comes to acute management, ibuprofen is considered more effective than paracetamol for pediatric migraine. Triptans may be used in children over 12 years old, but follow-up is required, and only sumatriptan nasal spray is licensed for use in young people. However, oral triptans are not currently licensed for those under 18 years old, and side effects may include tingling, heat, and pressure sensations.
Prophylaxis for pediatric migraine is limited, with no clear consensus guidelines. Pizotifen and propranolol are recommended as first-line preventatives, while valproate, topiramate, and amitriptyline are considered second-line preventatives. Tension-type headache is the second most common cause of headache in children, with diagnostic criteria including at least 10 previous headache episodes lasting from 30 minutes to 7 days, with specific pain characteristics and the absence of nausea or vomiting.
In summary, headaches in children are common, and migraine without aura is the most common primary headache. Acute management includes ibuprofen and triptans, while prophylaxis is limited. Tension-type headache is also a common cause of headache in children. It is important to seek medical advice if headaches are frequent or severe, or if there are any concerning symptoms such as neurological deficits or changes in behavior.
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This question is part of the following fields:
- Paediatrics
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Question 19
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A healthy toddler is 18 months old and was born in the breech position. The toddler's mother is concerned about developmental dysplasia of the hip (DDH), as she has heard that this can be associated with breech delivery.
Which of the following is the most appropriate investigation for this toddler?Your Answer: Ultrasound scan of the hips only if they are found to be unstable at the 6-week baby check
Correct Answer: Ultrasound scan of the hips before six weeks of age
Explanation:An ultrasound scan of the hips is recommended for all babies born in the breech position after 36 weeks of pregnancy, even if they are not born in the breech position. It is also necessary for babies born before 36 weeks in the breech position or those with a family history of hip problems in early life. This is to detect developmental dysplasia of the hip (DDH) early, which can be treated with a Pavlik harness before six months of age. Surgery may be required if non-operative treatment is not successful. An ultrasound scan should be performed before six weeks of age to ensure early diagnosis and treatment. If a baby is found to have an unstable hip joint during their newborn examination, they should have an ultrasound of the hip before two weeks of age. X-rays are not recommended for detecting DDH in infants, and ultrasound is the preferred imaging modality.
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This question is part of the following fields:
- Paediatrics
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Question 20
Incorrect
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A 35-year-old primip has a stillborn baby at 34 weeks gestation. The infant presents with microcephaly, micrognathia, and club feet. What is the diagnosis?
Your Answer: Trisomy 13
Correct Answer: Trisomy 18
Explanation:Edward’s syndrome is characterized by micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers. The baby affected by this syndrome will have experienced slow growth in the womb and will have a low birthweight. Unfortunately, around half of those who survive to birth will pass away within two weeks, and only one in every five will live for at least three months. The survival rate beyond one year is only one in every 12 babies born with Edwards’ syndrome. This information is according to NHS Choices.
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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