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Question 1
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A mother brings her 2-year-old daughter to your clinic with a similar concern about a mass around her belly button that seems to increase in size when she coughs or strains. Upon examination, you diagnose an unobstructed umbilical hernia that is soft, nontender, and reducible.
What is the recommended course of action for managing this patient?Your Answer: Reassure mum that umbilical hernias usually resolve but if persisting at 2-3 years of age surgery may be considered
Explanation:It is important to reassure the mother that umbilical hernias in newborns usually resolve on their own by the age of 3. However, if the hernia persists beyond this age, surgery may be considered. As there are no alarming symptoms currently present, urgent or routine referrals are not necessary. The use of laxatives would only be recommended if there is a history of constipation or faecal loading.
Umbilical Hernia in Children: Causes and Treatment
Umbilical hernias are a common occurrence in children and are often detected during the newborn examination. This condition is characterized by a bulge or protrusion near the belly button, caused by a weakness in the abdominal muscles. While umbilical hernias can occur in any child, they are more common in Afro-Caribbean infants and those with Down’s syndrome or mucopolysaccharide storage diseases.
Fortunately, in most cases, umbilical hernias in children do not require treatment and will resolve on their own by the age of three. However, if the hernia persists beyond this age or becomes painful, surgery may be necessary to repair the abdominal wall. It is important to monitor the hernia and seek medical attention if there are any changes in size or symptoms.
In summary, umbilical hernias are a common condition in children that typically resolve on their own without treatment. However, certain factors such as ethnicity and underlying medical conditions may increase the likelihood of developing an umbilical hernia. Parents should be aware of the signs and symptoms of umbilical hernias and seek medical attention if necessary.
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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 6-month-old is brought in by a concerned mother. She reports her baby crying after feeds and drawing his legs to his chest for several weeks. His growth is good and examination unremarkable.
Which of the following is the best treatment option?Your Answer: Gaviscon
Correct Answer: Supportive advice and reassurance
Explanation:Managing Infantile Colic: Supportive Advice and Reassurance
Infantile colic can be a challenging condition for both parents and babies. While there is little evidence for treating colic, there are some strategies that can help manage the symptoms. Nursing the baby upright after feeds, bathing the infant in warm water, using white noise, gentle movement of baby, eg rocking the crib, holding baby during an episode, winding well and offering reassurance when needed can all be helpful.
However, it’s important to note that medications such as Infacol, Colief, Gaviscon, and Ranitidine are not recommended as first-line treatments due to lack of evidence. Maternal diet modification, probiotic supplements, herbal supplements, and manipulative strategies are also not recommended.
If your baby is experiencing colic, know that you are not alone and that supportive advice and reassurance can go a long way in managing the symptoms.
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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 grandfather visits you as his grandson has been diagnosed with hypospadias. He wants to know what treatment options are available and if there are any measures he can take to prevent the condition from worsening.
Your Answer: Corrective surgery at around 12 months of age is required and children should not be circumcised
Explanation:The usual age for performing hypospadias surgery is approximately 12 months.
Understanding Hypospadias: A Congenital Abnormality of the Penis
Hypospadias is a condition that affects approximately 3 out of 1,000 male infants. It is a congenital abnormality of the penis that is usually identified during the newborn baby check. However, if missed, parents may notice an abnormal urine stream. This condition is characterized by a ventral urethral meatus, a hooded prepuce, and chordee in more severe forms. The urethral meatus may open more proximally in the more severe variants, but 75% of the openings are distally located. There appears to be a significant genetic element, with further male children having a risk of around 5-15%.
Hypospadias most commonly occurs as an isolated disorder, but it can also be associated with other conditions such as cryptorchidism (present in 10%) and inguinal hernia. Once hypospadias has been identified, infants should be referred to specialist services. Corrective surgery is typically performed when the child is around 12 months of age. It is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure. In boys with very distal disease, no treatment may be needed. Understanding hypospadias is important for parents and healthcare providers to ensure proper management and treatment of this condition.
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This question is part of the following fields:
- Paediatrics
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Question 4
Correct
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What is a factor that leads to cyanotic congenital heart disease?
Your Answer: Transposition of the great arteries
Explanation:Congenital heart disease can be categorized into two types: acyanotic and cyanotic. Acyanotic heart diseases are more common and include ventricular septal defects (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), coarctation of the aorta, and aortic valve stenosis. VSD is the most common acyanotic heart disease, accounting for 30% of cases. ASDs are less common than VSDs, but they are more frequently diagnosed in adult patients as they tend to present later. On the other hand, cyanotic heart diseases are less common and include tetralogy of Fallot, transposition of the great arteries (TGA), and tricuspid atresia. Fallot’s is more common than TGA, but TGA is the more common lesion at birth as patients with Fallot’s generally present at around 1-2 months. The presence of cyanosis in pulmonary valve stenosis depends on the severity and any other coexistent defects.
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This question is part of the following fields:
- Paediatrics
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Question 5
Incorrect
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A 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: Salmonella species
Correct 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 6
Incorrect
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A 6-year-old girl is brought to the clinic by her mother due to complaints of itching around her vulva and anus for the past 3 days. Upon examination, the area appears red and the skin on her vulva is broken from excessive scratching. Her mother has been applying sudocrem but it has not provided relief. There are no other individuals at home with similar symptoms. Based on the probable diagnosis, what is the most suitable course of action?
Your Answer: Prescribe a single dose of mebendazole for the daughter and give hygiene advice
Correct Answer: Prescribe a single dose of mebendazole for the household and give hygiene advice
Explanation:The recommended first line treatment for threadworm is mebendazole. In this case, as the patient is showing symptoms of threadworm, it is important to treat all members of the household with a single dose of mebendazole and provide hygiene advice. While a ‘Scotch tape test’ can be used to confirm the presence of eggs or worms, treatment is often based on symptoms. It is not appropriate to only treat the daughter and provide hygiene advice, as other members of the household may also be infected. Additionally, prescribing 7 days of mebendazole for the daughter alone is incorrect, as a single dose is recommended and a second dose should be taken 14 days later. Piperazine is only recommended for children under 2 years old, so it is not appropriate to prescribe 14 days of piperazine for the daughter in this case.
Threadworm Infestation in Children
Threadworm infestation, caused by Enterobius vermicularis or pinworms, is a common occurrence among children in the UK. The infestation happens when eggs present in the environment are ingested. In most cases, threadworm infestation is asymptomatic, but some possible symptoms include perianal itching, especially at night, and vulval symptoms in girls. Diagnosis can be made by applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically, and this approach is supported in the CKS guidelines.
The CKS recommends a combination of anthelmintic with hygiene measures for all members of the household. Mebendazole is the first-line treatment for children over six months old, and a single dose is given unless the infestation persists. It is essential to treat all members of the household to prevent re-infection. Proper hygiene measures, such as washing hands regularly, keeping fingernails short, and washing clothes and bedding at high temperatures, can also help prevent the spread of threadworm infestation.
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This question is part of the following fields:
- Paediatrics
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Question 7
Correct
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A mother brings her 10-month-old child to surgery, worried that he is not meeting developmental milestones compared to her friends' children. Upon observation, the child is able to sit without support but shows minimal interest in exploring his surroundings. He has a basic pincer grip, seems hesitant to engage with others, and only says mama. How would you describe his developmental progress?
Your Answer: Normal development
Explanation:Common Developmental Problems and Possible Causes
Developmental problems can manifest in various ways, including referral points such as not smiling at 10 weeks, inability to sit unsupported at 12 months, and failure to walk at 18 months. Fine motor skill problems may also arise, such as abnormal hand preference before 12 months, which could indicate cerebral palsy. Gross motor problems are often caused by a variant of normal, cerebral palsy, or neuromuscular disorders like Duchenne muscular dystrophy. Speech and language problems should always be checked for hearing issues, as they can also be caused by environmental deprivation or general development delay.
It is important to recognize these developmental problems early on and seek appropriate interventions to address them. By doing so, children can receive the necessary support to reach their full potential and overcome any challenges they may face. With proper care and attention, many children with developmental problems can go on to lead happy and fulfilling lives.
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This question is part of the following fields:
- Paediatrics
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Question 8
Incorrect
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You are evaluating a young patient in primary care who has a significant family history of multiple endocrine neoplasia type 1. Although genetic testing has confirmed an abnormal genetic profile, the patient has not yet presented with any clinical manifestations of the condition. What is the genetic term used to describe conditions where the genotype is abnormal, but the phenotype remains normal?
Your Answer: Mosaicism
Correct Answer: Low penetrance
Explanation:When a condition has low genetic penetrance, it may not show many clinical signs or symptoms, and the patient may appear normal, despite having an abnormal genetic profile. This is because the severity of the phenotype is determined by the penetrance of the genotype. If the condition has high penetrance, the phenotype is more likely to be expressed, resulting in more signs and symptoms.
Autosomal Dominant Diseases: Characteristics and Complicating Factors
Autosomal dominant diseases are genetic disorders that are inherited from one parent who carries the abnormal gene. In these diseases, both homozygotes and heterozygotes manifest the disease, and both males and females can be affected. The disease is passed on to 50% of children, and it normally appears in every generation. The risk remains the same for each successive pregnancy.
However, there are complicating factors that can affect the expression of the disease. Non-penetrance is a phenomenon where an individual carries the abnormal gene but does not show any clinical signs or symptoms of the disease. For example, 40% of individuals with otosclerosis do not show any symptoms despite carrying the abnormal gene. Another complicating factor is spontaneous mutation, where a new mutation occurs in one of the gametes. This can result in the disease appearing in a child even if both parents do not carry the abnormal gene. For instance, 80% of individuals with achondroplasia have unaffected parents.
In summary, autosomal dominant diseases have distinct characteristics such as their inheritance pattern and the fact that affected individuals can pass on the disease. However, complicating factors such as non-penetrance and spontaneous mutation can affect the expression of the disease and make it more difficult to predict its occurrence.
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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 6-week-old baby is brought in by his first-time mother concerned about a flaky/scaly rash on his scalp.
Which of the following is the diagnosis?Your Answer: Seborrhoeic dermatitis
Explanation:Understanding Infantile Seborrhoeic Dermatitis (Cradle Cap)
Infantile seborrhoeic dermatitis, commonly known as cradle cap, is a condition that typically affects infants between the second week of life and the sixth month. It presents as a yellow scaly/flaky rash on the scalp, but can also affect other areas such as the ears, neck, face, and napkin area. While the condition is not harmful, it can be unsightly and uncomfortable for the infant.
Management of cradle cap involves simple measures such as regular washing of the scalp with baby shampoo, softening of scales with baby oil or soaking the crusts overnight with white petroleum jelly, then shampooing in the morning. If these measures are not effective, topical imidazole cream can be used.
It is important to note that cradle cap is not a fungal infection, eczema, erythema toxicum neonatorum (ETN), or scalp psoriasis. These conditions have different presentations and require different management strategies. Understanding the differences between these conditions can help parents and caregivers provide appropriate care for their infants.
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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 child is brought to the Paediatric department by his grandmother. He has developed a very high fever and is breathing with a high-pitched sound. His grandmother is very worried as she has tried to get him to drink some water and take paracetamol this morning, but he is drooling and refuses to take anything orally. The child is Spanish speaking, however, his grandmother translates that he feels too hot and his chest hurts.
What is the most suitable initial step in managing this child's condition?Your Answer: Call anaesthetics
Explanation:Acute epiglottitis is characterized by the sudden onset of fever, drooling, and stridor in a child. It is important to immediately call anaesthetics as there is a high risk of airway obstruction if the child becomes upset. The Hib vaccination is widely available and subsidized in many countries, including Poland where it has been available since the 1990s.
Humidified oxygen is commonly used to manage bronchiolitis, but it should be avoided in patients with suspected epiglottitis as it may cause distress and worsen the airway obstruction. IV hydrocortisone is not a first-line treatment for epiglottitis and cannulating a patient before securing their airway or having anaesthetics present is not recommended.
Nebulized salbutamol is useful for treating viral wheezing or asthma exacerbations, which present with an expiratory wheeze and fever, but not drooling. However, it should not be administered to a child with suspected epiglottitis until their airway is secured by anaesthetics to prevent further complications.
Acute epiglottitis is a rare but serious infection caused by Haemophilus influenzae type B. It is important to recognize and treat it promptly as it can lead to airway obstruction. Although it was once considered a disease of childhood, it is now more common in adults in the UK due to the immunization program. The incidence of epiglottitis has decreased since the introduction of the Hib vaccine. Symptoms include a rapid onset, high temperature, stridor, drooling of saliva, and a tripod position where the patient leans forward and extends their neck to breathe easier. Diagnosis is made by direct visualization, but x-rays may be done to rule out a foreign body.
Immediate senior involvement is necessary, including those who can provide emergency airway support such as anaesthetics or ENT. Endotracheal intubation may be necessary to protect the airway. It is important not to examine the throat if epiglottitis is suspected due to the risk of acute airway obstruction. The diagnosis is made by direct visualization, but only senior staff who are able to intubate if necessary should perform this. Treatment includes oxygen and intravenous antibiotics.
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This question is part of the following fields:
- Paediatrics
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