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Question 1
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As a junior doctor on the postnatal ward, you perform a newborn examination on a twelve-hour-old baby delivered vaginally. During the examination, you observe a scalp swelling that has poorly defined margins and crosses suture lines. The swelling is soft and pitted on pressure. The mother reports that the swelling has been present since birth. What is the probable diagnosis?
Your Answer: Caput succedaneum
Explanation:Scalp edema known as caput seccedaneum can be identified by its ability to extend beyond the suture lines during examination.
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 2
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 3
Correct
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A 26-month-old child has a short history of runny nose and fever. She is staying with her grandparents, who believe in sweating out a fever and wrap her up well under several blankets on the sofa between them. She suddenly cries out and then has a single grand mal seizure lasting two minutes, during which she is incontinent of urine. A couple of minutes after the episode she is completely well. Examination reveals no focal neurological signs. Development to date has been normal.
Which of the following is the most likely diagnosis?Your Answer: Febrile convulsion
Explanation:Differential Diagnosis of Seizures in Children: A Case Study
A child presents with a seizure following a fever. The differential diagnosis includes febrile convulsion, myoclonic epilepsy, bacterial meningitis, viral encephalitis, and generalised epilepsy syndrome. However, the absence of intracranial infection and other neurological features suggests that febrile convulsion is the most likely diagnosis. Febrile convulsions are common in children aged 3 months to 5 years and are associated with viral illnesses. They are generalised, last less than 15 minutes, and do not recur within 24 hours. Children with febrile seizures have no increased mortality risk but may have a slightly increased risk of epilepsy in later life. Other possible causes of seizures, such as breath-holding attacks or reflex anoxic seizures, should also be considered. Education on managing fevers and keeping the child comfortable during illnesses should be provided to the family.
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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 4-week-old infant is referred by the health visitor for failure to thrive. The infant's weight has dropped from the 50th to the 9th centile on the growth chart. The parents disclose that the infant vomits after every meal, sometimes even hitting the wall. The mother had a normal pregnancy with regular antenatal scans, and the infant was delivered vaginally without complications. The newborn examination did not reveal any abnormalities. What is the probable diagnosis?
Your Answer: Pyloric stenosis
Explanation:The probable diagnosis is pyloric stenosis.
Understanding Pyloric Stenosis
Pyloric stenosis is a condition that usually occurs in infants between the second and fourth weeks of life. However, in rare cases, it may present later, up to four months. This condition is caused by the thickening of the circular muscles of the pylorus. Pyloric stenosis is more common in males, with an incidence of 4 per 1,000 live births. It is also more likely to affect first-borns and infants with a positive family history.
The most common symptom of pyloric stenosis is projectile vomiting, which usually occurs about 30 minutes after a feed. Other symptoms may include constipation, dehydration, and a palpable mass in the upper abdomen. Prolonged vomiting can lead to hypochloraemic, hypokalaemic alkalosis, which can be life-threatening.
Diagnosis of pyloric stenosis is typically made using ultrasound. Management of this condition involves a surgical procedure called Ramstedt pyloromyotomy. This procedure involves making a small incision in the pylorus to relieve the obstruction and allow for normal passage of food. With prompt diagnosis and treatment, infants with pyloric stenosis can make a full recovery.
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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 7-year-old girl presents to you with her father. She complains of bilateral knee and calf pain at night for the past 6 months. The pain worsens after playing soccer during the day and can cause her to wake up 1-2 times per month. Knee examination is normal, and she is otherwise healthy. What is the most probable diagnosis?
Your Answer: Growing pains
Explanation:Children between the ages of 3 and 12 often experience growing pains, which typically involve leg pain. However, it is crucial to check for any potential warning signs when examining these children. One such warning sign is osteosarcoma, a rare but significant diagnosis that should be ruled out. Symptoms of osteosarcoma include an inexplicable lump, bone pain, or swelling. Another condition to consider is juvenile rheumatoid arthritis, which typically presents with fever, rash, and symmetrical joint pain and swelling.
Understanding Growing Pains in Children
Growing pains are a common complaint among children aged 3-12 years. These pains are often attributed to ‘benign idiopathic nocturnal limb pains of childhood’ in rheumatology, as they are not necessarily related to growth. Boys and girls are equally affected by growing pains, which are characterized by intermittent pain in the legs with no obvious cause.
One of the key features of growing pains is that they are never present at the start of the day after the child has woken up. Additionally, there is no limp or limitation of physical activity, and the child is systemically well with normal physical examination and motor milestones. Symptoms may worsen after a day of vigorous activity.
Overall, growing pains are a benign condition that can be managed with reassurance and simple measures such as massage or heat application. However, it is important to rule out other potential causes of leg pain in children, especially if there are any worrying features present.
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This question is part of the following fields:
- Paediatrics
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Question 6
Correct
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Which one of the following statements regarding congenital inguinal hernias is accurate?
Your Answer: They are more common on the right side
Explanation:Abdominal wall hernias occur when an organ or the fascia of an organ protrudes through the wall of the cavity that normally contains it. Risk factors for developing these hernias include obesity, ascites, increasing age, and surgical wounds. Symptoms of abdominal wall hernias include a palpable lump, cough impulse, pain, obstruction (more common in femoral hernias), and strangulation (which can compromise the bowel blood supply and lead to infarction). There are several types of abdominal wall hernias, including inguinal hernias (which account for 75% of cases and are more common in men), femoral hernias (more common in women and have a high risk of obstruction and strangulation), umbilical hernias (symmetrical bulge under the umbilicus), paraumbilical hernias (asymmetrical bulge), epigastric hernias (lump in the midline between umbilicus and xiphisternum), incisional hernias (which may occur after abdominal surgery), Spigelian hernias (rare and seen in older patients), obturator hernias (more common in females and can cause bowel obstruction), and Richter hernias (a rare type of hernia that can present with strangulation without symptoms of obstruction). In children, congenital inguinal hernias and infantile umbilical hernias are the most common types, with surgical repair recommended for the former and most resolving on their own for the latter.
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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 3-year-old boy is brought to the paediatric urology clinic due to recurrent urinary tract infections. A renal ultrasound revealed dilatation of the ureters. The boy's father remembers having a similar issue with a valve in his ureters during childhood, resulting in urine flowing back towards the kidneys. What is the most suitable test to assess the severity of the probable underlying cause?
Your Answer: Micturating cystography
Explanation:Vesicoureteral reflux (VUR) is a likely cause of recurrent urinary tract infections (UTIs) in children under 6 years old. The family history, age of the patient, and abnormal ultrasound findings suggest VUR as the underlying issue. To determine the severity of VUR, a voiding cystourethrogram (micturating cystography) is necessary. This test involves injecting dye into the bladder via a catheter and taking x-ray images while the child urinates. Early detection of VUR is crucial to prevent kidney scarring (reflux nephropathy).
Bladder ultrasound is not an appropriate method for grading VUR severity. While ultrasound imaging of the urinary tract, including the kidneys, can be useful, it cannot grade VUR severity.
A CT abdomen is not necessary and would expose the child to unnecessary radiation.
A dimercaptosuccinic acid (DMSA) scan can assess renal parenchymal defects resulting from VUR and is typically performed within six months of an acute infection in children with recurrent UTIs. However, it cannot grade the severity of VUR.
Understanding Vesicoureteric Reflux
Vesicoureteric reflux (VUR) is a condition where urine flows back from the bladder into the ureter and kidney. This is a common urinary tract abnormality in children and can lead to urinary tract infections (UTIs). In fact, around 30% of children who present with a UTI have VUR. It is important to investigate for VUR in children following a UTI as around 35% of children develop renal scarring.
The pathophysiology of VUR involves the ureters being displaced laterally, which causes a shortened intramural course of the ureter. This means that the vesicoureteric junction cannot function properly. VUR can present in different ways, such as hydronephrosis on ultrasound during the antenatal period, recurrent childhood UTIs, and reflux nephropathy, which is chronic pyelonephritis secondary to VUR. Renal scarring can also produce increased quantities of renin, which can cause hypertension.
To diagnose VUR, a micturating cystourethrogram is usually performed. A DMSA scan may also be done to check for renal scarring. VUR is graded based on the severity of the condition, with Grade I being the mildest and Grade V being the most severe.
Overall, understanding VUR is important in preventing complications such as UTIs and renal scarring. Early diagnosis and management can help improve outcomes for children with this condition.
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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 9-year-old boy is being evaluated at the Enuresis clinic. Despite using an enuresis alarm for the past three months, he continues to wet the bed at night. He has no issues with urination during the day and has a daily bowel movement. What treatment option is most probable to be suggested?
Your Answer: Desmopressin
Explanation:Nocturnal enuresis, or bedwetting, is when a child involuntarily urinates during the night. Most children achieve continence by the age of 3 or 4, so enuresis is defined as the involuntary discharge of urine in a child aged 5 or older without any underlying medical conditions. Enuresis can be primary, meaning the child has never achieved continence, or secondary, meaning the child has been dry for at least 6 months before.
When managing bedwetting, it’s important to look for any underlying causes or triggers, such as constipation, diabetes mellitus, or recent onset UTIs. General advice includes monitoring fluid intake and encouraging regular toileting patterns, such as emptying the bladder before sleep. Reward systems, like star charts, can also be helpful, but should be given for agreed behavior rather than dry nights.
The first-line treatment for bedwetting is an enuresis alarm, which has a high success rate. These alarms have sensor pads that detect wetness and wake the child up to use the toilet. If short-term control is needed, such as for sleepovers, or if the alarm is ineffective or not acceptable to the family, desmopressin may be prescribed. Overall, managing bedwetting involves identifying any underlying causes and implementing strategies to promote continence.
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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 newly born infant is diagnosed with gastroschisis and has exposed bowel. The mother is concerned about potential complications besides fluid loss.
Your Answer: Heat loss
Explanation:Exposed bowel in babies with gastroschisis leads to a considerable loss of fluid and heat, which can pose a serious risk to their lives. Unlike exomphalos, gastroschisis is not associated with cardiac and renal issues. Additionally, there is no correlation between gastroschisis and microcephaly or macrocephaly.
Gastroschisis and exomphalos are both types of congenital visceral malformations. Gastroschisis refers to a defect in the anterior abdominal wall located just beside the umbilical cord. In contrast, exomphalos, also known as omphalocoele, involves the protrusion of abdominal contents through the anterior abdominal wall, which are covered by an amniotic sac formed by amniotic membrane and peritoneum.
When it comes to managing gastroschisis, vaginal delivery may be attempted, but newborns should be taken to the operating theatre as soon as possible after delivery, ideally within four hours. As for exomphalos, a caesarean section is recommended to reduce the risk of sac rupture. In cases where primary closure is difficult due to lack of space or high intra-abdominal pressure, a staged repair may be undertaken. This involves allowing the sac to granulate and epithelialise over several weeks or months, forming a shell. As the infant grows, the sac contents will eventually fit within the abdominal cavity, at which point the shell can be removed and the abdomen closed.
Overall, both gastroschisis and exomphalos require careful management to ensure the best possible outcome for the newborn. By understanding the differences between these two conditions and the appropriate steps to take, healthcare professionals can provide effective care and support to both the infant and their family.
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This question is part of the following fields:
- Paediatrics
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Question 10
Correct
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What is the initial indication of puberty in young girls?
Your Answer: Breast development
Explanation:Puberty: Normal Changes in Males and Females
Puberty is a natural process that marks the transition from childhood to adulthood. In males, the first sign of puberty is testicular growth, which typically occurs around the age of 12. A testicular volume greater than 4 ml indicates the onset of puberty. The maximum height spurt for males occurs at the age of 14.
For females, the first sign of puberty is breast development, which typically occurs around the age of 11.5. The height spurt for females reaches its maximum early in puberty, at the age of 12, before menarche. Menarche, the onset of menstruation, typically occurs at the age of 13.
Following menarche, there is only a small increase of about 4% in height. It is important to note that normal changes in puberty may include gynaecomastia in boys, asymmetrical breast growth in girls, and diffuse enlargement of the thyroid gland. These changes are a natural part of the process and should not cause alarm. Understanding the normal changes that occur during puberty can help individuals navigate this important stage of development with confidence.
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This question is part of the following fields:
- Paediatrics
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Question 11
Correct
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You are the foundation year two doctor on the paediatric medical assessment unit. You are asked to clerk a 10-year-old boy who has been brought in by his father due to abdominal pain and strong smelling urine.
A urine dip is positive for nitrites and leucocytes. You start treatment for a urinary tract infection. What is the most probable organism responsible for this infection?Your Answer: Escherichia coli
Explanation:Escherichia coli is the most frequent organism responsible for UTIs in both children and adults. Streptococcus pneumonia is more commonly associated with pneumonia or otitis media, while Staphylococcus aureus is more likely to cause skin infections like impetigo. Herpes is a viral infection that causes oral or genital ulcerations and whitlow. Although not impossible, a fungal-induced UTI is unlikely.
Investigating Urinary Tract Infections in Children
When a child develops a urinary tract infection (UTI), it is important to consider the possibility of underlying causes and kidney damage. Unlike in adults, UTIs in children can lead to renal scarring. The National Institute for Health and Care Excellence (NICE) has provided guidelines for imaging the urinary tract in children with UTIs. Infants under six months of age who have their first UTI and respond to treatment should have an ultrasound within six weeks. However, children over six months of age who respond to treatment for their first UTI do not require imaging unless there are features suggestive of an atypical infection or recurrent infection.
Features that suggest an atypical infection include being seriously ill, having poor urine flow, an abdominal or bladder mass, raised creatinine, septicemia, failure to respond to suitable antibiotics within 48 hours, or infection with non-E. coli organisms. If any of these features are present, further investigations may be necessary. Urine should be sent for microscopy and culture, as only 50% of children with a UTI have pyuria. A static radioisotope scan, such as DMSA, can identify renal scars and should be done 4-6 months after the initial infection. Micturating cystourethrography (MCUG) can identify vesicoureteric reflux and is only recommended for infants under six months of age who present with atypical or recurrent infections.
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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 young girl from a nomadic group has been diagnosed with measles. What is the potential immediate complication she may face following the initial infection?
Your Answer: Pneumonia
Explanation:Pneumonia is a possible complication of measles, while subacute sclerosing panencephalitis may develop 5-10 years after the illness. Mumps infection may lead to pancreatitis and infertility.
Measles: A Highly Infectious Viral Disease
Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.
The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.
Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.
If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.
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This question is part of the following fields:
- Paediatrics
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Question 13
Correct
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A mother brings her 6-week-old newborn baby to see you. She reports that she has noticed that his belly button is always wet and leaks out yellow fluid. On examination, you note a small, red growth of tissue in the centre of the umbilicus, covered with clear mucus. The child is otherwise well, apyrexial and developing normally.
What is the most probable diagnosis for this infant's condition?Your Answer: Umbilical granuloma
Explanation:An umbilical granuloma is a growth of tissue that can occur during the healing process of the umbilicus, typically within the first few weeks of life. It appears as a small, red growth in the center of the umbilicus that may leak clear or yellow fluid. Treatment involves applying salt to the wound or cauterizing the granuloma with silver nitrate if necessary.
Omphalitis, also known as umbilical cellulitis, is a bacterial infection that affects the umbilical stump. It typically presents as a superficial cellulitis a few days after birth.
Umbilical hernias are common in newborns, occurring in approximately 1 in 5 children. They usually resolve on their own by the age of 2.
The umbilicus has two arteries and one vein during development, which later dessicates and separates after birth. Umbilical hernias are common in neonates and may resolve spontaneously. Paraumbilical hernias have more defined edges and are less likely to resolve on their own. Omphalitis is a potentially serious infection of the umbilicus that requires antibiotics. Umbilical granulomas can be treated with silver nitrate. Persistent urachus and vitello-intestinal ducts are rare conditions that require imaging and surgical closure.
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This question is part of the following fields:
- Paediatrics
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Question 14
Correct
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Fragile X is commonly associated with all of the following symptoms except?
Your Answer: Small, firm testes
Explanation:Fragile X Syndrome: A Genetic Disorder
Fragile X syndrome is a genetic disorder caused by a trinucleotide repeat. It affects both males and females, but males are more severely affected. Common features in males include learning difficulties, large low set ears, long thin face, high arched palate, macroorchidism, hypotonia, and a higher likelihood of autism. Mitral valve prolapse is also a common feature. Females, who have one fragile chromosome and one normal X chromosome, may have a range of symptoms from normal to mild.
Diagnosis of Fragile X syndrome can be made antenatally by chorionic villus sampling or amniocentesis. The number of CGG repeats can be analyzed using restriction endonuclease digestion and Southern blot analysis. Early diagnosis and intervention can help manage the symptoms of Fragile X syndrome and improve the quality of life for those affected.
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This question is part of the following fields:
- Paediatrics
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Question 15
Correct
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A 1-year-old child is diagnosed with multiple congenital abnormalities such as an extra finger on each hand, microphthalmia, microcephaly, and cleft palate and lip. Which chromosome is most likely to be affected in this case?
Your Answer: 13
Explanation:A newborn has been diagnosed with Patau syndrome, which is caused by an extra full copy of chromosome 13 (trisomy 13). This chromosomal abnormality often results in physical and mental disabilities, with distinguishing features including polydactyly, cleft lips and palates, microcephaly, and microphthalmia. Unfortunately, many infants with Patau syndrome do not survive beyond their first year of life. Those who do survive often experience intellectual and motor disabilities.
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 16
Correct
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You are seeing a 5-year-old boy in your clinic who has a history of multiple wheezy episodes over the past 4 years and was diagnosed with asthma. He was admitted to the hospital 5 months ago with shortness-of-breath and wheeze and was diagnosed with a viral exacerbation of asthma. The paediatric team prescribed him a Clenil (beclometasone dipropionate) inhaler 50mcg bd and salbutamol 100mcg prn via a spacer before his discharge. His mother reports that he has a persistent night-time cough and is regularly using his salbutamol inhaler. On clinical examination, his chest appears normal. What would be the most appropriate next step in managing this patient?
Your Answer: Add a leukotriene receptor antagonist
Explanation:Managing Asthma in Children: NICE Guidelines
Asthma management in children has been updated by NICE in 2017, following the 2016 BTS guidelines. The new guidelines for children aged 5-16 are similar to those for adults, with a stepwise approach for treatment. For newly-diagnosed asthma, short-acting beta agonist (SABA) is recommended. If symptoms persist, a combination of SABA and paediatric low-dose inhaled corticosteroid (ICS) is used. Leukotriene receptor antagonist (LTRA) is added if symptoms still persist, followed by long-acting beta agonist (LABA) if necessary. Maintenance and reliever therapy (MART) is used as a combination of ICS and LABA for daily maintenance therapy and symptom relief. For children under 5 years old, clinical judgement plays a greater role in diagnosis. The stepwise approach is similar to that for older children, with an 8-week trial of paediatric moderate-dose ICS before adding LTRA. If symptoms persist, referral to a paediatric asthma specialist is recommended.
It should be noted that NICE does not recommend changing treatment for well-controlled asthma patients simply to adhere to the latest guidelines. The definitions of low, moderate, and high-dose ICS have also changed, with different definitions for adults and children. For children, <= 200 micrograms budesonide or equivalent is considered a paediatric low dose, 200-400 micrograms is a moderate dose, and > 400 micrograms is a high dose. Overall, the new NICE guidelines provide a clear and concise approach to managing asthma in children.
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This question is part of the following fields:
- Paediatrics
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Question 17
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 18
Correct
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An infant develops bile-stained vomiting; an abdominal X-ray shows a ‘double bubble’ appearance. The infant is also hypotonic with brachycephaly.
Which of the following is the most likely diagnosis?
Your Answer: Trisomy 21
Explanation:Genetic Disorders and Associated Phenotypic Features
Trisomy 21: Down Syndrome and Duodenal Atresia
Neonates with Down syndrome have an increased risk of duodenal atresia, accounting for around a third of cases. Prenatal imaging can detect this condition, which presents with bilious vomiting within hours of birth. Down syndrome is also characterized by distinct physical features such as brachiocephaly, upward slanting palpebral fissures, and joint hyperflexibility.45,XO: Turner Syndrome and Cardiac Defects
Turner syndrome affects females with a genetic complement of 45XO. It is characterized by short stature, webbed neck, and lymphoedema. Cardiac defects, including coarctation of the aorta, may also be present.Fragile X: Learning Disability and Autism
Fragile X is a common X-linked form of learning disability and autism. Physical features are difficult to detect in infancy, but delayed motor milestones and speech and language delay may be present. Macro-orchidism is almost universal post-puberty, and cardiac defects, including mitral valve prolapse, may occur.Trisomy 18: Edwards’ Syndrome and Neonatal Hypotonia
Trisomy 18, or Edwards’ syndrome, is characterized by neonatal hypotonia, apnoea, and seizures. There is severe psychomotor and growth retardation, microcephaly, and microphthalmia. Over 90% have cardiac defects, commonly VSD, as well as anomalies in most organ systems.47,XXY: Klinefelter’s Syndrome and Infertility
Klinefelter’s syndrome affects males with a genetic complement of either 47,XXY or 48,XXXY. It is a random mutation, not inherited, and is characterized by tall stature, poorly developed testes or cryptorchidism, and gynaecomastia. Infertility is common. Physical features are not obvious in infancy. -
This question is part of the following fields:
- Paediatrics
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Question 19
Correct
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Sophie is a premature baby (28 weeks) who was born 3 weeks ago. During the past week, she has been experiencing bloody stools, abdominal distension, and poor feeding. Upon physical examination, there is an increase in abdominal size with decreased bowel sounds. An abdominal X-ray reveals asymmetrical bowel loops that are dilated and have bowel wall oedema. What is the probable diagnosis?
Your Answer: Necrotising enterocolitis
Explanation:Understanding Necrotising Enterocolitis
Necrotising enterocolitis is a serious condition that is responsible for a significant number of premature infant deaths. The condition is characterized by symptoms such as feeding intolerance, abdominal distension, and bloody stools. If left untreated, these symptoms can quickly progress to more severe symptoms such as abdominal discolouration, perforation, and peritonitis.
To diagnose necrotising enterocolitis, doctors often use abdominal x-rays. These x-rays can reveal a number of important indicators of the condition, including dilated bowel loops, bowel wall oedema, and intramural gas. Other signs that may be visible on an x-ray include portal venous gas, pneumoperitoneum resulting from perforation, and air both inside and outside of the bowel wall. In some cases, an x-ray may also reveal air outlining the falciform ligament, which is known as the football sign.
Overall, understanding the symptoms and diagnostic indicators of necrotising enterocolitis is crucial for early detection and treatment of this serious condition. By working closely with healthcare professionals and following recommended screening protocols, parents and caregivers can help ensure the best possible outcomes for premature infants at risk for this condition.
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This question is part of the following fields:
- Paediatrics
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Question 20
Incorrect
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A toddler is brought to the emergency department by a worried parent. The parent reports that the child was violently shaken by the caregiver. The paediatricians on duty observe retinal haemorrhages and suspect encephalopathy. What was identified on the CT head to complete the triad of features of Shaken Baby Syndrome?
Your Answer: Subarachnoid haemorrhage
Correct Answer: Subdural haematoma
Explanation:The combination of retinal haemorrhages, subdural haematoma, and encephalopathy is known as the triad of symptoms associated with Shaken Baby Syndrome. The tearing of fragile bridging cerebral veins in infants is believed to be the cause of subdural haematomas, which are the most common and typical intracranial manifestation of this syndrome.
Understanding Shaken Baby Syndrome
Shaken baby syndrome is a condition that involves a combination of retinal haemorrhages, subdural haematoma, and encephalopathy. It occurs when a child between the ages of 0-5 years old is intentionally shaken. However, there is controversy among physicians regarding the mechanism of injury, making it difficult for courts to convict suspects of causing shaken baby syndrome to a child. This condition has made headlines due to the ongoing debate among medical professionals.
Shaken baby syndrome is a serious condition that can cause long-term damage to a child’s health. It is important to understand the signs and symptoms of this condition to ensure that children are protected from harm. While the controversy surrounding the diagnosis of shaken baby syndrome continues, it is crucial to prioritize the safety and well-being of children. By raising awareness and educating the public about this condition, we can work towards preventing it from occurring in the future.
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This question is part of the following fields:
- Paediatrics
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