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Question 1
Correct
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A 12-month-old boy is brought into morning surgery by a concerned first-time mother. She reports several episodes of her baby crying inconsolably and drawing his legs towards his chest since last night. Today he passed some bright red jelly-like blood in his nappy without any stool.
Which of the following is the likely cause?
Your Answer: Intussusception
Explanation:Understanding Intussusception: A Common Cause of Abdominal Pain in Children
Intussusception is a medical condition where one segment of the bowel invaginates into another, causing obstruction and compromise to the blood supply of that part of the bowel. This can lead to symptoms such as colicky abdominal pains, vomiting, and passing of redcurrant stools. It is a common cause of abdominal pain in children and requires immediate medical attention.
Gastroenteritis, appendicitis, constipation, and volvulus are all conditions that can cause abdominal pain in children, but they are not likely to present with the specific symptoms of intussusception. Any child with suspected intussusception should be admitted to the hospital immediately for further investigation and observation.
Understanding the symptoms and causes of intussusception can help parents and caregivers recognize the condition and seek prompt medical attention for their child.
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This question is part of the following fields:
- Paediatrics
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Question 2
Incorrect
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In a 40-year-old woman, what is the probability of having a child with Down syndrome? Please choose one option from the list provided.
Your Answer: 1 in 10000
Correct Answer: 1 in 100
Explanation:The chance of Down syndrome increases with maternal age:
Age (years) Chance
20 1:1500
30 1:800
35 1:270
40 1:100
>45 >1:50Therefore, the correct answer is 1 in 100.
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This question is part of the following fields:
- Paediatrics
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Question 3
Incorrect
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A 7-year-old boy comes to his General Practitioner with his mother, having just woken up from a nap and experienced twitching of the left side of his mouth. He complains of a ‘buzzing’ sensation in his lips. His speech is unclear and he drooled from the left side of his mouth. His symptoms resolved within two minutes and he remained conscious throughout the episode.
What is the most probable diagnosis?Your Answer: Infantile spasms
Correct Answer: Benign rolandic epilepsy (BRE)
Explanation:Types of Epilepsy: Characteristics and Differences
Epilepsy is a neurological disorder characterized by recurrent seizures. There are different types of epilepsy, each with its own set of clinical features and diagnostic criteria. Here are some of the most common types of epilepsy and their distinguishing characteristics:
Benign Rolandic Epilepsy (BRE)
BRE, also known as childhood epilepsy with centrotemporal spikes, is characterized by seizures that often occur during sleep or just before waking. Children may experience paraesthesia of their lips, tongue, or the inside of their mouth, which can interfere with speech and cause drooling. Twitching of one side of the mouth or face often develops, followed by twitching in the limbs on the same side. Seizures typically last less than two minutes, and the child remains conscious.Absence Seizures
Absence seizures are a form of generalized epilepsy that impairs consciousness. Children are most commonly affected, and the seizures usually last only a few seconds but may occur many times a day. During the absence, the child stops activity and stares blankly, not responding to questions. There may be lip-smacking or facial tics. An EEG will reveal a characteristic spike-and-wave activity.Temporal Lobe Epilepsy (TLE)
TLE is characterized by partial and/or focal seizures that may be simple or complex, with some loss of awareness. The clinical features of TLE reflect the function of the temporal lobe, primarily speech, taste, smell, and memory. Presentations may include déjà vu, gastrointestinal disturbance, amnesia during an attack, olfactory or gustatory hallucinations, and abnormal sensations crawling up the body. Repetitive vocalizations, automatism, and lip-smacking may be seen.Juvenile Myoclonic Epilepsy (JME)
JME describes generalized epilepsy that impairs consciousness. JME usually presents in later childhood, with a peak onset at 10–16 years. The defining seizure is myoclonic and usually occurs in the first hour after waking. These seizures occur as sudden jerks, which commonly involve the arms and/or trunk. However, any muscle may be affected. The patient is generally conscious while myoclonic jerks are occurring. Generalized tonic-clonic seizures often accompany myoclonic seizures in JME, which may lead to reduced consciousness.Infantile Spasms
Infantile spasms develop in the first year of life, with peak -
This question is part of the following fields:
- Paediatrics
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Question 4
Incorrect
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A 6-year-old girl's normal heart rate is which of the following?
Your Answer: 60 – 100 bpm
Correct Answer: 80 – 120 bpm
Explanation:Normal Heart Rate Range for Children
The normal heart rate for a 6-year-old child would be between 80-120 beats per minute (bpm). It’s important to note that the normal heart rate range varies depending on the child’s age. For instance, a heart rate of 110-160 bpm would be normal for a child aged less than 1 year, while a heart rate of 60-100 bpm would be normal for a child aged over 12 years. For children aged between 1 and 2 years, a heart rate of 100-150 bpm is considered normal, while for those aged between 2 and 5 years, a heart rate of 95-140 bpm is normal. For children aged between 5 and 12 years, a heart rate of 80-120 bpm is normal. Knowing the normal heart rate range for children is essential in monitoring their health and detecting any abnormalities.
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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 12-year-old girl has excessive bleeding after an adenotonsillectomy for recurrent tonsillitis. Physical examination reveals no abnormalities. The girl's grandmother died of a postoperative bleeding complication at a young age.
Which of the following is the most important investigation to establish a diagnosis?Your Answer: Prothrombin time/INR (international normalised ratio)
Correct Answer: Factor VIII assay
Explanation:Diagnostic Tests for Haemophilia: Factor VIII Assay, Prothrombin Time/INR, Platelet Count, Bone Marrow Examination, and Blood Film
Haemophilia is an X-linked bleeding disorder caused by deficiency of clotting factor VIII (haemophilia A) or factor IX (haemophilia B). Patients may present with bruising, inadequate clotting with mild injury, or spontaneous haemorrhage. To diagnose haemophilia A, a factor VIII assay is necessary. Other diagnostic tests include prothrombin time/INR, platelet count, bone marrow examination, and blood film. The prothrombin time and platelet count are normal in haemophilia, while bone marrow sampling carries a risk of significant bleeding. A blood film is not useful in the diagnosis as red blood cells and platelet count are normal.
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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 boy presents to the operating room with a fever and a developing purplish rash. What is the best course of action to take?
Your Answer: IM benzylpenicillin 1200mg
Correct Answer: IM benzylpenicillin 600mg
Explanation:The RCGP has previously provided feedback that doctors are required to have knowledge of emergency medication dosages, with a specific emphasis on suspected cases of meningococcal septicaemia.
Paediatric Drug Doses for Emergency Situations
When it comes to prescribing drugs for children in emergency situations, it is important to consult the current British National Formulary (BNF) beforehand. However, as a guide, the following doses can be used for intramuscular (IM) benzylpenicillin in suspected cases of meningococcal septicaemia in the community. For children under one year old, the dose is 300 mg. For children between one and ten years old, the dose is 600mg. For children over ten years old, the dose is 1200mg. It is important to note that these doses are only a guide and should be adjusted based on the individual child’s weight and medical history. Always consult with a healthcare professional before administering any medication to a child.
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This question is part of the following fields:
- Paediatrics
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Question 7
Incorrect
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Which of the following conditions is not screened for in the blood spot screening test for infants?
Your Answer: Phenylketonuria
Correct Answer: Galactosaemia
Explanation:Neonatal Blood Spot Screening: Identifying Potential Health Risks in Newborns
Neonatal blood spot screening, also known as the Guthrie test or heel-prick test, is a routine procedure performed on newborns between 5-9 days of life. The test involves collecting a small sample of blood from the baby’s heel and analyzing it for potential health risks. Currently, there are nine conditions that are screened for, including congenital hypothyroidism, cystic fibrosis, sickle cell disease, phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), and homocystinuria (pyridoxine unresponsive) (HCU).
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This question is part of the following fields:
- Paediatrics
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Question 8
Incorrect
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A 12-year-old boy visits his General Practitioner with complaints of a sore throat, fever and cervical lymphadenopathy. The doctor prescribes amoxicillin. After four days of taking the antibiotics, the boy develops a highly itchy, maculopapular rash. His blood tests from four days ago reveal a lymphocytosis. What is the most probable diagnosis?
Your Answer: Allergy to penicillin
Correct Answer: Glandular fever
Explanation:Diagnosing Glandular Fever: Understanding Symptoms and Differential Diagnosis
Glandular fever, also known as infectious mononucleosis, is a viral illness that can cause a range of symptoms, including fever, sore throat, fatigue, and swollen lymph nodes. One common symptom is the development of a maculopapular rash, which can be triggered by taking penicillin. However, it is important to consider other potential diagnoses and rule out conditions such as dermatitis herpetiformis, allergy to penicillin, herpes zoster, and streptococcal throat infection.
To confirm a diagnosis of glandular fever, healthcare providers may perform a full blood count to check for lymphocytosis and atypical lymphocytes. Epstein-Barr virus (EBV) serology may also be tested in certain cases. Treatment for glandular fever is primarily supportive, and patients are advised to avoid contact sports to reduce the risk of splenic rupture.
By understanding the symptoms and differential diagnosis of glandular fever, healthcare providers can accurately diagnose and manage this viral illness.
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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 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 10
Correct
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A child is born by an emergency Caesarean section at 38 weeks, due to pathological cardiotocography. The child appears healthy at birth, with Apgar scores of 9 and 10 (1 and 5 minutes respectively). Shortly after delivery, the nurse observes that the child's respiratory rate is elevated (all other observations are normal). The mother's antenatal history is unremarkable and her observations were normal during labor. What is the probable diagnosis?
Your Answer: Transient tachypnoea of the newborn (TTN)
Explanation:Understanding Transient Tachypnoea of the Newborn
Transient tachypnoea of the newborn (TTN) is a common respiratory condition that affects newborns. It is caused by the delayed resorption of fluid in the lungs, which can lead to breathing difficulties. TTN is more common in babies born via caesarean section, as the fluid in their lungs may not be squeezed out during the birth process. A chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.
The management of TTN involves observation and supportive care. In some cases, supplementary oxygen may be required to maintain oxygen saturation levels. However, TTN usually resolves within 1-2 days. It is important for healthcare professionals to monitor newborns with TTN closely and provide appropriate care to ensure a full recovery. By understanding TTN and its management, healthcare professionals can provide the best possible care for newborns with this condition.
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This question is part of the following fields:
- Paediatrics
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Question 11
Incorrect
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What is the initial indication of puberty in young girls?
Your Answer: Development of axillary hair
Correct 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 12
Correct
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A 9-year-old girl comes to the clinic with a one-month history of unusual facial movements noticed by her father. Her father reports that he first noticed her having twitching of left eye and face as well as drooling of saliva. This happens about twice a week, always at night. Each episode lasts for 1-2 minutes and after each episode, the girl is unable to speak properly for around 5 minutes. The girl is aware of these occurrences but reports unable to control them. The father reports that his daughter is otherwise normal with normal development.
What is the diagnosis?Your Answer: Benign rolandic epilepsy
Explanation:Benign rolandic epilepsy is identified by the occurrence of partial seizures during the night.
The child displays typical indications of benign rolandic epilepsy, which is distinguished by partial seizures that occur during the night. Reflex anoxic seizures are caused by anoxia and typically manifest as syncope and subsequent convulsions in very young children. Panayiotopoulos syndrome is characterised by seizures, often prolonged, with predominantly autonomic symptoms such as nausea and retching. Idiopathic childhood occipital epilepsy of Gastaut is mainly characterised by visual hallucinations. Night terrors are a sleep disorder that causes feelings of dread or terror, typically during REM sleep.
Benign rolandic epilepsy is a type of epilepsy that usually affects children between the ages of 4 and 12 years. This condition is characterized by seizures that typically occur at night and are often partial, causing sensations in the face. However, these seizures may also progress to involve the entire body. Despite these symptoms, children with benign rolandic epilepsy are otherwise healthy and normal.
Diagnosis of benign rolandic epilepsy is typically confirmed through an electroencephalogram (EEG), which shows characteristic centrotemporal spikes. Fortunately, the prognosis for this condition is excellent, with seizures typically ceasing by adolescence. While the symptoms of benign rolandic epilepsy can be concerning for parents and caregivers, it is important to remember that this condition is generally not associated with any long-term complications or developmental delays.
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This question is part of the following fields:
- Paediatrics
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Question 13
Incorrect
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The mother of a 3-month-old boy presents to the clinic with concerns about a soft lump in his right groin area. The baby has been breastfeeding well and having regular bowel movements. There is no significant medical history. Upon examination, a 1 cm swelling is noted in the right inguinal region, which is reducible and disappears when the baby is laid flat. Scrotal examination reveals no abnormalities. What is the best course of action in this situation?
Your Answer: Reassure mother + ask her to return if not resolved by 6 months
Correct Answer: Refer to paediatric surgery
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 14
Correct
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A newborn is delivered at term via vaginal delivery with no complications, however she is not showing signs of breathing at one minute. Her heart rate is >110bpm, but she is floppy and has a blue colouration. What is the most appropriate next step?
Your Answer: 5 breaths of air via face mask
Explanation:Performing airway suction should be avoided unless there is clear evidence of thick meconium causing obstruction, as it may lead to reflex bradycardia in infants. Chest compressions are not necessary if the heart rate (HR) is above 100 beats per minute (bpm). CPR should only be initiated if the HR drops below 60 bpm. If there are no signs of breathing due to fluid in the lungs, administering five breaths through a 250ml ambu bag is a more effective and hygienic approach than using mouth-to-mouth resuscitation in a hospital setting.
The Apgar score is a tool used to evaluate the health of a newborn baby. It is recommended by NICE to be assessed at 1 and 5 minutes after birth, and again at 10 minutes if the initial score is low. The score is based on five factors: pulse, respiratory effort, color, muscle tone, and reflex irritability. A score of 0-3 is considered very low, 4-6 is moderate low, and 7-10 indicates that the baby is in good health. The score helps healthcare professionals quickly identify any potential issues and provide appropriate care.
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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 3-day-old infant is presented to the Emergency Department due to increased irritability, poor feeding, and decreased muscle tone as observed by the mother in the last 24 hours. Meningitis is confirmed through lumbar puncture. What is the probable causative agent in this scenario?
Your Answer: Neisseria meningitidis
Correct Answer: Group B streptococcus
Explanation:Meningitis poses a higher risk to neonates, particularly those with low birth weight, prematurity, traumatic delivery, fetal hypoxia, and maternal peripartum infection. The initial symptoms are usually vague and may include elevated body temperature, respiratory distress, apnea, episodes of bradycardia, low blood pressure, difficulty feeding, irritability, and decreased activity.
Organisms causing meningitis in children
Meningitis is a serious condition that can affect children of all ages. The organisms that cause meningitis vary depending on the age of the child. In neonates up to 3 months old, Group B Streptococcus is the most common cause, which is usually acquired from the mother during birth. E. coli and other Gram-negative organisms, as well as Listeria monocytogenes, can also cause meningitis in this age group.
From 1 month to 6 years old, Neisseria meningitidis (meningococcus), Streptococcus pneumoniae (pneumococcus), and Haemophilus influenzae are the most common organisms that cause meningitis. In children over 6 years old, Neisseria meningitidis and Streptococcus pneumoniae are the most common causes.
It is important for parents to be aware of the signs and symptoms of meningitis, such as fever, headache, stiff neck, and sensitivity to light. If a child is showing these symptoms, they should be taken to a doctor immediately for evaluation and treatment. Early diagnosis and treatment can help prevent serious complications and improve outcomes.
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This question is part of the following fields:
- Paediatrics
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Question 16
Incorrect
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A 6-year-old girl with known sickle cell disease presents with pallor, back pain and a 6-cm tender, enlarged spleen. She is anaemic with a raised reticulocyte count, and is moderately jaundiced.
Which one of the following is the most likely diagnosis?
Your Answer: Haemolytic crisis
Correct Answer: Splenic sequestration crisis
Explanation:Differentiating Sickle Cell Disease Complications: A Guide
Sickle cell disease is a genetic disorder that affects the shape of red blood cells, leading to a range of complications. Here is a guide to differentiating between some of the most common complications:
Splenic Sequestration Crisis: This occurs when sickled red blood cells become trapped in the spleen, leading to abdominal pain, splenomegaly, and signs of anemia. It is most common in children aged 5 months to 2 years and may be associated with infection. Treatment involves fluid resuscitation and transfusion, with splenectomy advised for recurrent cases.
Haemolytic Crisis: Chronic haemolysis is a feature of sickle cell disease, but worsening haemolysis may accompany acute deteriorations. This leads to a reduction in haemoglobin and an increase in unconjugated bilirubin. However, isolated haemolysis would not lead to abdominal pain and splenomegaly.
Aplastic Crisis: This is a temporary cessation of red blood cell production, often associated with parvovirus B19 infection. Patients present with fatigue, pallor, shortness of breath, and low reticulocyte counts.
Girdle Syndrome: This rare complication is characterised by an established ileus, with vomiting, distended abdomen, and absent bowel sounds. It is often associated with bilateral basal lung consolidation, but this patient does not exhibit these features.
Painful Crisis: This is the most common reason for hospital admission in sickle cell disease patients. It is characterised by recurrent attacks of acute severe pain, triggered by sickling and vaso-occlusion. Splenomegaly is not a feature of painful crisis.
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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 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: Where there is a known history of inherited conditions, patients may attribute symptoms to the onset of the disease
Correct 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 18
Incorrect
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A 12-year-old boy has been under the care of the Paediatrics Team since birth and is attending the Paediatric Clinic for a follow-up appointment. His mother reports that he is struggling at school due to his learning and behavioural difficulties. He has a large jaw, hyper-extensible joints and macroorchidism.
Which of the following is the most likely syndrome?Your Answer: Noonan syndrome
Correct Answer: Fragile X syndrome
Explanation:Genetic Conditions and Their Phenotypic Features
Fragile X Syndrome, Down Syndrome, Edwards Syndrome, Noonan Syndrome, and Pierre-Robin Syndrome are genetic conditions that have distinct phenotypic features. Fragile X Syndrome is an X-linked form of learning disability and autism that mainly presents after puberty. Down Syndrome is characterized by brachycephaly, prominent epicanthal folds, and small nose and mouth with protruding tongue, among others, and is usually diagnosed at birth. Edwards Syndrome has a life expectancy of days to weeks and is characterized by neonatal hypotonia, apnea, and seizures. Noonan Syndrome is inherited in an autosomal-dominant pattern and is characterized by distinctive facial features, congenital heart defects, and skeletal malformations. Pierre-Robin Syndrome results in facial abnormalities, respiratory and feeding difficulties, and cleft palate. Understanding the phenotypic features of these genetic conditions is crucial for early diagnosis and management.
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This question is part of the following fields:
- Paediatrics
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Question 19
Incorrect
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You are speaking to a 26-year-old man who is known to have haemophilia A. His wife has had genetic testing and was found not to be a carrier of haemophilia. He asks you what the chances are of his future children developing haemophilia. What is the correct answer?
Your Answer: 25%
Correct Answer: 0%
Explanation:If the mother is not a carrier of the X-linked recessive condition, so there is no risk of future children developing haemophilia. However, any daughters the father has will be carriers. Male-to-male transmission is not possible, and affected males can only have unaffected sons and carrier daughters.
Understanding X-Linked Recessive Inheritance
X-linked recessive inheritance is a genetic pattern where only males are affected, except in rare cases such as Turner’s syndrome. This type of inheritance is transmitted by heterozygote females, who are carriers of the gene mutation. Male-to-male transmission is not observed in X-linked recessive disorders. Affected males can only have unaffected sons and carrier daughters.
If a female carrier has children, each male child has a 50% chance of being affected, while each female child has a 50% chance of being a carrier. It is important to note that the possibility of an affected father having children with a heterozygous female carrier is generally rare. However, in some Afro-Caribbean communities, G6PD deficiency is relatively common, and homozygous females with clinical manifestations of the enzyme defect are observed.
In summary, X-linked recessive inheritance is a genetic pattern that affects only males and is transmitted by female carriers. Understanding this pattern is crucial in predicting the likelihood of passing on genetic disorders to future generations.
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This question is part of the following fields:
- Paediatrics
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Question 20
Incorrect
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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: Cow's milk protein intolerance
Correct 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 21
Correct
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A newborn who was born prematurely at 34 weeks gestation is now under the care of the Practice. The baby did not experience any significant complications, such as respiratory issues, after birth. How should routine childhood vaccinations be administered?
Your Answer: Give according to chronological age
Explanation:It is recommended that premature babies receive their routine vaccinations based on their chronological age, without any adjustment for their gestational age. However, if a baby was born before 28 weeks of gestation, it is advisable to administer their initial immunizations while they are still in the hospital to minimize the risk of apnea.
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 22
Correct
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You are a foundation year 2 doctor on your GP placement. You see 8-year-old Lily whose mother has brought her to see you as she feels Lily is snoring very loudly and wonders whether this is affecting her quality of sleep. Lily is overweight and has a background of childhood asthma.
What is a frequent cause of snoring in childhood?Your Answer: Obesity
Explanation:Snoring in Children: Possible Causes
Snoring in children can be caused by various factors. One of the common causes is obesity, which can lead to the narrowing of the airways and difficulty in breathing during sleep. Another possible cause is nasal problems such as polyps, deviated septum, and hypertrophic nasal turbinates, which can also obstruct the airways and cause snoring. Recurrent tonsillitis can also contribute to snoring, as the inflamed tonsils can block the air passages.
In some cases, snoring in children may be associated with certain medical conditions such as Down’s syndrome and hypothyroidism. These conditions can affect the structure and function of the respiratory system, leading to snoring and other breathing difficulties.
It is important to identify the underlying cause of snoring in children and seek appropriate treatment to prevent potential health complications. Parents should consult a healthcare professional if their child snores regularly or experiences other symptoms such as daytime sleepiness, difficulty concentrating, or behavioral problems.
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This question is part of the following fields:
- Paediatrics
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Question 23
Incorrect
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Which one of the following statements regarding the HPV vaccine is incorrect?
Your Answer: The second dose is given at 3-4 years
Correct Answer: Children who received another live vaccine 2 weeks ago can safely have MMR
Explanation:The MMR Vaccine: Information on Contraindications and Adverse Effects
The Measles, Mumps and Rubella (MMR) vaccine is given to children in the UK twice before they enter primary school. The first dose is administered at 12-15 months, while the second dose is given at 3-4 years old. This vaccine is part of the routine immunisation schedule.
However, there are certain contraindications to the MMR vaccine. Children with severe immunosuppression, allergies to neomycin, or those who have received another live vaccine by injection within four weeks should not receive the MMR vaccine. Pregnant women should also avoid getting vaccinated for at least one month following the MMR vaccine. Additionally, if a child has undergone immunoglobulin therapy within the past three months, there may be no immune response to the measles vaccine if antibodies are present.
While the MMR vaccine is generally safe, there are some adverse effects that may occur. After the first dose of the vaccine, some children may experience malaise, fever, and rash. These symptoms typically occur after 5-10 days and last for around 2-3 days. It is important to be aware of these potential side effects and to consult with a healthcare professional if any concerns arise.
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This question is part of the following fields:
- Paediatrics
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Question 24
Incorrect
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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: Isolated delay in gross motor skills
Correct 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 25
Incorrect
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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: Slipped upper femoral epiphysis
Correct 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 26
Incorrect
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A father brings his 5-year-old daughter to the clinic. Despite not getting the MMR vaccine during the recent scare, he now wants to know if it's still possible to have her immunised due to the current measles outbreak. What should be done in this situation?
Your Answer: Arrange for measles immunoglobulin to be given
Correct Answer: Give MMR with repeat dose in 3 months
Explanation:According to the Green Book, it is recommended to have a 3-month gap between doses for optimal response rate. However, if the child is over 10 years old, a 1-month gap is sufficient. In case of an emergency, such as an outbreak at the child’s school, younger children can have a shorter gap of 1 month.
The MMR Vaccine: Information on Contraindications and Adverse Effects
The Measles, Mumps and Rubella (MMR) vaccine is given to children in the UK twice before they enter primary school. The first dose is administered at 12-15 months, while the second dose is given at 3-4 years old. This vaccine is part of the routine immunisation schedule.
However, there are certain contraindications to the MMR vaccine. Children with severe immunosuppression, allergies to neomycin, or those who have received another live vaccine by injection within four weeks should not receive the MMR vaccine. Pregnant women should also avoid getting vaccinated for at least one month following the MMR vaccine. Additionally, if a child has undergone immunoglobulin therapy within the past three months, there may be no immune response to the measles vaccine if antibodies are present.
While the MMR vaccine is generally safe, there are some adverse effects that may occur. After the first dose of the vaccine, some children may experience malaise, fever, and rash. These symptoms typically occur after 5-10 days and last for around 2-3 days. It is important to be aware of these potential side effects and to consult with a healthcare professional if any concerns arise.
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This question is part of the following fields:
- Paediatrics
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Question 27
Incorrect
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A 6-week-old infant is brought to the GP clinic by her mother for a check-up. The mother is concerned about her daughter's occasional fever and wants to have her checked. The baby appears active and healthy, breathing comfortably with a central capillary refill of less than 2 seconds. She has no rashes and is of normal color.
The following observations and growth measurements are recorded:
- Heart rate: 140 beats per minute (normal range: 115-180)
- Oxygen saturation: 99% on room air
- Respiratory rate: 42 breaths per minute (normal range: 25-60)
- Temperature: 38.7ºC
- Weight: 75th percentile
- Height: 50th percentile
- Head circumference: 75th percentile
What would be the most appropriate course of action?Your Answer: Reassure and review in 24 hours
Correct Answer: Refer to the paediatric emergency department
Explanation:If an infant is under 3 months old and has a fever over 38ºC, it is crucial to consider the possibility of a serious infection. In this case, it is not appropriate to assess the infant in a GP clinic. Instead, they should be immediately referred to a paediatric emergency department for monitoring and potential investigations, such as urine, chest X-ray, blood cultures, or lumbar puncture, depending on the progression of symptoms. Keeping the infant in the GP clinic for observations is not recommended, as they may deteriorate rapidly and become difficult to manage in that setting. Reassurance and review are usually appropriate for a febrile infant with an obvious infective focus, but not for an infant under 3 months old with no apparent focus of infection. Similarly, an urgent referral to an outpatient paediatrician is not appropriate, as it may take too long to organise and may not be able to manage sudden deterioration.
The NICE Feverish illness in children guidelines were introduced in 2007 and updated in 2013. These guidelines use a ‘traffic light’ system to assess the risk of children under 5 years old presenting with a fever. It is important to note that these guidelines only apply until a clinical diagnosis of the underlying condition has been made. When assessing a febrile child, their temperature, heart rate, respiratory rate, and capillary refill time should be recorded. Signs of dehydration should also be looked for. Measuring temperature should be done with an electronic thermometer in the axilla if the child is under 4 weeks old or with an electronic/chemical dot thermometer in the axilla or an infra-red tympanic thermometer.
The risk stratification table includes green for low risk, amber for intermediate risk, and red for high risk. If a child is categorized as green, they can be managed at home with appropriate care advice. If they are categorized as amber, parents should be provided with a safety net or referred to a pediatric specialist for further assessment. If a child is categorized as red, they should be urgently referred to a pediatric specialist. It is important to note that oral antibiotics should not be prescribed to children with fever without an apparent source, and a chest x-ray does not need to be routinely performed if a pneumonia is suspected but the child is not going to be referred to the hospital.
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This question is part of the following fields:
- Paediatrics
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Question 28
Incorrect
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During a cardiorespiratory exam, a 5-year-old boy is found to have pectus excavatum and pulmonary stenosis. What is the probable diagnosis?
Your Answer: William's syndrome
Correct Answer: Noonan syndrome
Explanation:Noonan syndrome is diagnosed in a young boy who exhibits a webbed neck, pulmonary stenosis, ptosis, and short stature, despite having a normal karyotype.
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 29
Incorrect
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A 7-year-old girl presents to her General Practitioner with worsening pain in her right ear. She presented four days ago and was diagnosed with otitis media; she was then discharged with return advice. On examination, she is febrile. She has a normal ear canal and a bulging, red tympanic membrane. Behind the right pinna, there is an area of redness and swelling.
What is the most appropriate management option for this patient?Your Answer: Oral amoxicillin
Correct Answer: Referral to hospital
Explanation:Referral to Hospital for Mastoiditis: Explanation and Recommendations
Mastoiditis is a serious complication of otitis media that requires prompt medical attention. In this condition, the infection spreads to the mastoid bone behind the ear, causing pain, swelling, and redness. If left untreated, mastoiditis can lead to life-threatening complications such as meningitis or intracranial abscess. Therefore, it is essential to refer patients with suspected mastoiditis to hospital for further assessment and treatment.
Diagnosis of mastoiditis is based on clinical examination, which may include a CT scan to evaluate the extent of the infection. Treatment typically involves intravenous antibiotics, such as ceftriaxone and metronidazole, administered in hospital. Oral antibiotics, such as flucloxacillin or amoxicillin, are not effective for mastoiditis and should not be prescribed in this condition.
Patients with mastoiditis may also experience systemic symptoms, such as fever, malaise, or headache. Therefore, it is important to monitor their condition closely and provide appropriate supportive care, such as pain relief or hydration.
In summary, referral to hospital is the recommended course of action for patients with suspected mastoiditis. This ensures timely and effective treatment, reduces the risk of complications, and improves outcomes for the patient.
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This question is part of the following fields:
- Paediatrics
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Question 30
Incorrect
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What is a risk factor for the development of surfactant deficient lung disease in a neonate?
Your Answer: Maternal asthma
Correct Answer: Maternal diabetes mellitus
Explanation: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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