Day 13 Flashcards
1
Q
A 21 day old baby boy is brought to the GP because of yellow skin and eyes.
The yellowness started at 7 days of life and has been getting worse.
The baby has been bottle fed with poor feeding.
He has had 8 wet nappies of dark urine a day and has passed chalky white stools for the last week.
The baby was born by spontaneous vaginal delivery at 39 weeks gestation after a normal pregnancy.
He has otherwise been well, with no fever, abnormal movements or rash.
On inspection, he appears well. The abdomen is soft and the liver is palpable 2cm below the costal margin.
Blood tests show a normal haemoglobin, raised ALT and ALP, and raised total bilirubin (predominantly conjugated).
An abdominal ultrasound scan shows echogenic fibrosis in the liver.
Which of the following investigations will definitively diagnose the likely condition in this case?
A
Cholangiography
This baby with prolonged jaundice (>14 days) with pale stools, dark urine and a conjugated hyperbilirubinaemia is highly suspicious for obstructive jaundice. The ultrasound findings of echogenic hepatic fibrosis suggest biliary atresia. Biliary atresia is definitively diagnosed with cholangiography, which will fail to show the biliary tree.
2
Q
A 5 year old boy presents to the GP with a stomach ache, painful knees and a rash.
His mother says he has had severe abdominal pain and aching knees for the last 3 days that have stopped him going to school or playing.
He is managing to drink but is not eating much.
He is opening his bowels normally but his urine has been a brownish colour.
He developed a purple rash on his legs and buttocks overnight which did not disappear when his mum put a glass against it.
He has no vomiting, diarrhoea, headache, neck stiffness or photophobia.
He had a cold 2 weeks ago, but is otherwise well.
He takes no medicines and his vaccinations are up to date.
On inspection, he appears well but in pain.
His respiratory rate is 20, saturations are 99%, heart rate is 82, capillary refill is 2 seconds, blood pressure is 122/76 and temperature is 37.1 degrees.
There is a purpuric rash over the legs and buttocks.
What is the mechanism of this child’s condition?
What is the most likely diagnosis?
A
Small vessel vasculitis
This child with a purpuric rash over the legs and buttocks, abdominal pain, arthralgia and haematuria most likely has a diagnosis of Henoch-Schonlein Purpura (HSP). HSP is the most common small vessel vasculitis in children.
3
Q
A mother brings her 2-year-old daughter to see the out of hours GP as she is very worried about her.
She has suddenly developed a bright red rash over her cheeks and the bridge of her nose.
She also has a mild fever. After further discussion, the mother reveals that the child had been complaining of a headache a few days earlier and she is now worried that she has meningitis.
On examination, you find the child a little lethargic but otherwise systemically well.
She has a bright red rash over her cheeks and nose as well as a slightly more faded, lacy rash on her torso.
Given the history and examination findings, what is the most likely diagnosis?
A
Erythema infectiosum
Erythema infectiosum, also known as ‘Slapped Cheek Syndrome’ or ‘fifth disease,’ is a viral infection that is most common in children, but can affect individuals of all ages.
It has two stages.
- The first is the initial headache, fever, and cold-like symptoms.
- This is then followed by a rash developing over the following few days; appearing bright red on the cheeks and more lacy in pattern over the rest of the body.
4
Q
A 3-year-old is brought to the general practitioner.
She has been distressed with otalgia, pulling her left ear for 12 hours.
Just before arriving at the surgery, the mother notices a smelling fluid discharge from her daughter’s left ear.
On otoscopy, you see a perforated left tympanic membrane.
How should you manage the child?
A
Immediate antibiotic prescription
Children with acute otitis media presenting with otorrhoea are more likely to benefit from oral antibiotics.
5
Q
A three week old preterm on the neonatal intensive care unit develops a distended abdomen and passes blood per rectum.
Over the next hour the infant desaturates and becomes hypotensive, requiring artificial ventilation.
A plain radiograph of the abdomen shows grossly distended bowel loops and pneumointestinalis.
What is the diagnosis?
A
Necrotising Enterocolitis
This is a typical presentation of NEC.
The classic X-ray findings are of grossly distended bowel loops with air within the bowel wall (pneumointestinalis).
There may also be air within the portal tract and biliary tree.
Surgery is required for perforations.
6
Q
A 35 year old woman has been urgently referred to the fetal medicine unit after an abnormality was found at her 18 week anomaly scan.
The ultrasound report states that hydrops fetalis was found.
On questioning she has felt well throughout the pregnancy so far, but her 3 year old son has recently been ill with flu-like symptoms and a facial rash.
What pathogen has the mother most likely contracted in this case?
What is the risk to the neonate?
A
Parvovirus B19
Parvovirus B19 can cause erythema infectiosum or “slapped cheek syndrome” in the paediatric population and this is likely what her son had.
This can often be asymptomatic in pregnant women but can cause cross the placenta and cause severe anaemia in the fetus due to viral suppression of fetal erythropoiesis.
This causes hydrops fetalis and carries a high risk of intrauterine death.
7
Q
A 4-year-old boy presents to the GP with a one-day history of difficulty in breathing.
His mother reports that he has been unable to eat or drink for the past 24 hours, and she has noticed that he is salivating more than usual.
He does not have a cough.
Without examining the child he is noted to be sat in the tripod position and a high-pitched noise on inspiration is audible.
His family have recently emigrated from the Philippines and are new to the practice, so he has no previous medial records.
What is the most likely underlying diagnosis?
A
Acute Epiglottitis
Haemophilus influenza causes epiglottitis, which is a medical emergency as its rapidly progressive nature can lead to abrupt airway obstruction.
Children typically present with a short history of fever, irritability, sore throat, pooling and drooling of saliva and a muffled voice/cry.
The important negative in this history is the absence of a cough.
Cases of childhood epiglottitis are rare in the UK due to vaccination programmes; however, as this child has only recently moved to the UK you cannot be certain that his vaccinations are up to date.
8
Q
A 6 year old girl with a known peanut allergy had an anaphylactic reaction at her friend’s birthday party.
Her mother treated her at the scene using an adrenaline auto-injector and brought her the Emergency Department where she received chlorphenamine and hydrocortisone.
Her observations on arrival were normal apart from a mild tachycardia. One hour later, she is asymptomatic and looks well.
A repeat set of observations are underway.
What is the most appropriate course of action?
Why?
A
Admit for 6 hours observation
Anaphylaxis can sometimes occur as a bi-phasic reaction, with the second reaction occurring 4-6 hours after the initial one.
Young children are particularly at risk of this.
Thus all patients should be monitored in a hospital setting for up to 6 hours after their initial reaction regardless of how well they initially look.
9
Q
A young male aged 4 weeks is brought into PAU by his concerned mother because of his persistent vomiting for the past 48 hours.
He was born at 36 weeks and weighed 3.8Kg.
He now weighs 5.1Kg.
His mother has been suffering from Type 1 diabetes since early childhood. The pregnancy was otherwise uneventful.
He is her first child and she has never been pregnant before.
On questioning his mother, she reports that the vomiting has become more frequent and forceful in nature.
She reports his most recent vomiting was projectile and white in colour. He has feeding less since he started vomiting.
She has not noticed any blood in the vomit.
He has still been wetting his nappies but has not passed stool yet today.
On examination the baby appears well hydrated and no significant weight loss is noted.
Give the likely diagnosis.
What would be the most appropriate definitive treatment for his condition?
A
Laparoscopic pyloromyotomy
Pyloromyotomy is the definitive treatment for pyloric stenosis.
The procedure involves dividing the hypertrophied pylorus muscle down to the level of the mucosa whilst leaving the mucosa intact.
A laparoscopic procedure will reduce the patient’s stay in hospital after the procedure and so reduce their risk of postoperative complications.
10
Q
A 3-month-old infant is referred following an abnormal ultrasound test of the hips.
The infant is the first child of his parents.
He was born by normal vaginal delivery.
His leg lengths are measured from his ASIS (anterior superior iliac spine) to the medial malleolus on both sides and are found to be unequal.
Give the most likely diagnosis.
What bedside test would you use to indicate whether the shortening is femoral or tibial?
A
Galleazi test
The diagnosis is Developmental Dysplasia of the Hip with a subsequent leg length discrepancy.
Galleazi’s test is used to indicate whether the shortening is femoral or tibial.
11
Q
A 38-year old woman who is 12 weeks pregnant has abnormal ultrasound results.
The foetus has a thickened nuchal fold and shortened long bones.
Given the likely diagnosis, which of the following techniques is the most suitable method of antenatal diagnosis?
A
Chorionic villus sampling
Before 15 weeks, chronic villus sampling is the procedure of choice for obtaining a sample of foetal DNA.
12
Q
A newborn baby boy receives a full physical examination at 12 hours of life prior to being discharged from hospital.
No abnormalities are detected on the examination.
He is the firstborn child of his parents, and mother asks whether any further checks need to be carried out on him.
When will he need to be further assessed?
A
He will require a further assessment between 6-8 weeks
As part of newborn screening, a newborn and infant physical examination is performed within the first 72 hours of birth, and again at 6-8 weeks.
This involves a thorough examination of the baby’s systems and anatomical features, in order to assess for any congenital abnormality or pathology.
13
Q
A 5 year old boy presents to the GP with his father.
He has had a fever, runny nose and cough over the last few days and has now developed a red rash all over his body.
His father is uncertain about which immunisations the boy has received.
On examination the boy has an erythematous, blanching maculopapular rash all over, with grey spots on his buccal mucosa.
What is the diagnosis?
Which of the following is the most appropriate treatment option?
A
Supportive treatment.
This boy presents with features in keeping with measles infection, which is self-limiting.
14
Q
A 15 year old girl sees the GP about a rash that has developed in the last two weeks. There are several discrete circular lesions, up to 6cm in diameter, across her upper limbs in an asymmetric pattern which are well circumscribed with an erythematous edge. They are extremely pruritic.
What is the most likely diagnosis?
A
Discoid eczema
Discrete lesions with an erythematous border accompanied with pruritus is classical of discoid eczema.
Eczema generally is a pruritic condition, however discoid eczema is even more pruritic.
It is managed using the same therapies and principles as eczema.
15
Q
A 13-year-old Afro-Caribbean boy presents to A&E with his parents as they are concerned that he has been complaining of pain in his chest and back.
The pain started overnight and has progressively gotten worse, despite taking regular Paracetamol and Ibuprofen.
He is now struggling to breathe as the pain is worse on deep inspiration.
He has a known diagnosis of sickle cell disease, and has been admitted to hospital 4 times over the past year with painful crises.
His vital observations are: heart rate 110, blood pressure 137/89mmHg, respiratory rate 35, oxygen saturations 89%, temperature 38.5ºC.
Respiratory examination reveals bronchial breathing and crackles in the bases bilaterally.
Abdominal examination is unremarkable.
What is the most likely diagnosis?
A
Acute Chest Syndrome
This child has presented with fever, chest pain and shortness of breath on a background of sickle cell disease which makes the most likely diagnosis acute chest syndrome.
The pathology usually evolves from the lung bases and produces consolidation which explains the bronchial breathing and crackles.
16
Q
A 4-year-old boy is brought into the GP with his father, as he is concerned that his son is still having difficulty walking.
On assessment, the boy has a waddling gait with a tendency to walk on his toes.
He also struggles to stand up from lying without walking his arms up his legs.
Which of the following is the most likely diagnosis?
A
Duchenne muscular dystrophy
This is the correct answer.
Gowers’ sign describes a patient that has to use their hands and arms to ‘walk’ up their own body in order to stand up from a supine position. This is classically seen in Duchenne muscular dystrophy (DMD) due to proximal muscle weakness. All boys that are not walking by the age of 1 1/2 years should have creatinine levels measured, to rule out DMD.
17
Q
A 15-year-old girl presents to the GP requesting oral contraception. The GP consults the Fraser guidelines before deeming the girl competent to start the oral contraceptive pill.
What are the Fraser guidelines?
(5)
A
- He/she has sufficient maturity and intelligence to understand the nature and implications of the proposed treatment
- He/she cannot be persuaded to tell her parents or to allow the doctor to tell them
- He/she is very likely to begin or continue having sexual intercourse with or without contraceptive treatment
- His/her physical or mental health is likely to suffer unless he/she received the advice or treatment
- The advice or treatment is in the young person’s best interests.
18
Q
You are a medical student sitting in on a paediatric cardiology clinic.
During a break between patients the consultant is giving some teaching on Tetralogy of Fallot and asks which anatomical anomaly determines the extent of cyanosis in Tetralogy of Fallot (TOF)?
A
Pulmonary stenosis
The degree of right ventricle outflow obstruction correlates to the extent of cyanosis caused.
The greater the level of obstruction, the less unoxygenated blood reaches the lungs with each beat, the greater the cyanosis will be.
Tetralogy of Fallot is a relatively rare form of congenital cardiac disease. The clinical features of Tetralogy of Fallot are:
- Pulmonary stenosis
- Right ventricular hypertrophy
- Overriding aorta
- Ventricular septal defect.
19
Q
A concerned mother has brought her 15 month old son into the GP practice because she is very worried that he has not started walking by himself yet even though his older sister was walking independently by 12 months.
On assessment it is noted that he able to pull himself up to stand and is able to walk when his hands are held. No other abnormalities are noted.
What is the most appropriate step for the GP to take?
A
Reassure the mother and book a follow up appointment for 3 months time
This is the most appropriate response. As the child’s gross motor skills currently show no evidence of delay but it would be good practice to reassess the child at 18 months.
20
Q
A 10 year old boy presents to his GP with his mother.
Over the last six weeks, he has had four distinct episodes of breathlessness and cough.
Three of these episodes have been after visiting a friend’s house who owns three cats and whose parents smoke, but today he had an episode at his own home. He feels otherwise well and is afebrile, with normal vital observations for his age. On auscultation of the chest, the GP hears widespread wheeze.
If a chest x-ray was performed, what would be the most likely finding?
A
Hyperinflation
This boy’s presentation is in keeping with asthma. Chest x-rays do not show any specific characteristics of asthma and are most likely to show hyperinflation only.
21
Q
A 7-year-old presents to the paediatric accident and emergency department complaining of “pain in my tummy”.
His father says his son had a sore throat a few days ago.
On examination there is pain in the right iliac fossa, but there is no guarding.
Urine dipstick is normal.
What is the most likely diagnosis?
A
Mesenteric adenitis
Mesenteric adenitis often presents with a history of pain in the right iliac fossa, usually following an acute viral illness.
There may be a low-grade fever but often children present quite well with no change in appetite.
22
Q
A 15 year old male presents to the Emergency Department with fever, shortness of breath and a productive cough that has developed over the past week.
He is a frequent attender with 5 chest infections in the past year.
His past medical history includes bronchiectasis and cystic fibrosis.
Examination reveals widespread crackles and rhonchi (low pitch wheeze) in both lungs.
Which is the most likely causative organism behind his current presentation?
A
Pseudomonas aeruginosa
Pseudomonas is a common cause of respiratory tract infections in a patient with cystic fibrosis.
Other common pathogens include Staphylococcus aureus and Haemophilus influenzae.
23
Q
A 45 year old mother missed most of her antenatal scans and check ups.
She gave birth to her son yesterday in an uncomplicated delivery.
However, during feeding she has noted that her son often tires easily and becomes disinterested in feeding any longer.
Then this morning she became very worried as he appeared to turn very blue especially in the face.
Give the probable cause of these symptoms.
What would be the best investigation to confirm the diagnosis?
A
Echocardiogram
ECHO should be ordered in any newborn with a suspected diagnosis of congenital heart disease. Echocardiography is the definitive investigation for diagnosis of TOF.
24
Q
A 16 year old girl has been referred for review by the orthopaedic specialist by her GP with a 3 month history of worsening pain and swelling around her right knee.
She is a keen athlete and has recently been preparing for football trials.
She believes this may have started following an injury to her knee whilst playing several months ago.
Recently the pain has become so bad that she has had to miss training even though she is now taking regular paracetamol.
She reports the pain is worse at night.
On examination there is a tender mass noted above the right knee and the thigh appears enlarged compared to the left. The patient is also noted to be walking with a limp.
An x-ray of the right knee shows new disorganised bone growth around the distal end of the right femur with a poorly defined border.
There is also area of radiolucent lesions and a sunburst appearance of the periosteum is noted.
Given her presentation what is the most likely diagnosis?
A
Osteosarcoma
Osteosarcoma is the most common non-haematological primary malignant neoplasm of bone in children and adolescents. Pain and swelling with a prolonged onset are characteristic. The x-ray findings of new bony growth and a periosteal reaction causing a sunburnt appearance are typical of osteosarcoma.
25
A 4 year old boy is brought to A&E after his parents heard him have a 'fit'.
The parents checked on him at 4am because he was making noise in his sleep.
They found him with his back arched and teeth clenched, purple in the face and salivating.
This lasted for about 5 minutes, after which he was confused for about 10 minutes and is still sleepy.
He had no fever and was completely well the day before, with no headache or neck stiffness.
This has never happened before during the day or night.
On questioning, the parents say they have twice found him in the morning sleeping on the floor next to his bed, and sometimes he gets in a tangle with his duvet overnight.
He is otherwise healthy and takes no medicines.
No one else in the family has fits.
On examination at 5am, the child appears slightly sleepy but well.
His chest is clear and heart sounds I + II are present, capillary refill is \<2 seconds peripherally and temperature is 36.8 degrees. There is no evidence of focal neurological signs.
An outpatient overnight EEG shows characteristic central-temporal spikes.
**What is the most likely prognosis of this condition?**
**Child will outgrow fits around puberty**
This 4 year old child who has had a witnessed seizure at night, and evidence of potential previous seizures at night (asleep on floor, messy bed) with centro-temporal spikes on EEG is most likely to have a diagnosis of **benign rolandic epilepsy.**
Benign rolandic epilepsy has an excellent outcome and the vast majority of children outgrow the condition and stop having seizures around puberty.
26
A 6-year-old girl is brought into A&E via ambulance after developing difficulty in breathing after eating cake at her friend's birthday party.
On examination, she appears extremely unwell. Her lips and tongue are swollen and she is making a high-pitched noise on inspiration. There is reduced chest expansion and an audible wheeze. Her respiratory rate is 60 and oxygen saturations are 88% on room air. The doctor suspects a diagnosis of anaphylaxis.
**Which of the following is the definitive treatment?**
**Administer 300 micrograms IM Adrenaline (1:1000)**
This child has presented with angioedema, stridor and acute respiratory distress immediately after eating which is consistent with a diagnosis of anaphylaxis.
The most important treatment of anaphylaxis is Adrenaline as it will reverse airway obstruction. If they are unresponsive to the first dose, you can repeat the dose after 5 minutes.
27
A 10 year old boy with learning difficulties is seen in follow up in general paediatrics clinic.
The boy has a history of overeating.
His parents keep everything under lock and key, as he will eat entire cupboards or bars of soap if left unsupervised.
He was born at term via spontaneous vaginal delivery with no complications.
In infancy, he was quite floppy and had trouble breastfeeding.
In early childhood, he was referred to paediatrics for delays in reaching motor, verbal and social milestones.
On inspection, the boy is obese.
**What is the mechanism of inheritance of this child's condition?**
**Genomic imprinting**
This boy with learning difficulties, hyperphagia (insatiable appetite) and obesity with a background of hypotonia, poor feeding and developmental delay most likely has a diagnosis of **Prader-Willi syndrome**.
**Prader-Willi syndrome** is a genetic condition inherited by genomic imprinting, where gene expression is influenced by whether the gene was inherited from the mother or father.
28
A boy is delivered at term following an unremarkable antenatal course.
The vaginal delivery was uncomplicated with no evidence of foetal distress, meconium aspiration or risk factors for maternal infection.
Following cutting of the umbilical cord, he is noticed to be struggling to breath.
The clock has been started.
He has been dried, wrapped up and placed under an incubator.
**What is the next best step to take?**
**Deliver artificial breaths on-air**
Administering artificial breaths is the next step to help assist and stimulate the baby to breathe.
However this is initially done on air.
Oxygen is avoided in newborns where possible due to the potential risk of causing harm from oxygen free radicals with some studies indicating an association with increased mortality.
While the breaths on air are being delivered, saturation monitoring can be set up.
If the saturations are below what is expected for that point post-delivery, oxygen may be started and carefully titrated.
29
A 14-year-old boy attends the GP due to ongoing joint pain.
Three weeks ago he was seen in A&E for shoulder pain and stiffness following a minor fall and he was discharged with no concern.
In clinic today, he reports that the pain has gotten progressively worse and he has noticed that over the last week his shoulder has become more swollen.
On examination there is a generalised, smooth, tender swelling just below the right shoulder joint, with reduced range of movement in all directions.
There are no overlying skin changes.
His doctor suspects that the pain and swelling may be due to malignancy.
**What is the most important next step in this patient's management?**
**X-ray within 48 hours**
This is the correct answer. This child has presented with an unexplained bone swelling and persistent pain, in this age group you need to make a very urgent (48-hour) referral for an X-ray to assess for bone sarcomas. Osteosarcomas are the most common non-haematological primary malignant neoplasm of the bone in children. Bone sarcomas are rare, and it is not uncommon for there to be a delay in diagnosis.
30
You are an FY2 doctor in paediatrics. A nurse calls you to assess a 3-hour old baby boy who looks blue. He was born by forceps delivery at 40 weeks' gestationn.
On inspection, the baby appears cyanotic around the lips, inside the mouth and at the extremities. On auscultation of the chest, the lung fields are clear. Heart sounds S1 and a loud single S2 are heard, with no other sounds or murmurs. You note from the observation chart that the baby is tachypnoeic, tachycardic and afebrile. An echocardiogram shows the aorta originating from the right ventricle.
**Which condition is most likely to be present in the mother?**
Type 1 diabetes mellitus
This infant with early onset peripheral and central cyanosis with respiratory distress, **a single loud S2** and an echo **showing the aorta originating from the right ventricle** has features consistent with transposition of the great vessels.
In transposition of the great vessels, failure of the aorto-pulmonary septum to spiral means that the aorta comes out of the right ventricle and the pulmonary trunk out of the left ventricle.
This gives a classic 'egg-on-a-string' appearance on chest X-ray.
This often occurs with other shunts (like ventricular septal defects) which allows some mixing to keep the baby alive. Transposition of the great arteries is the most common cardiac defect in infants of diabetic mothers. This applies to mothers with type 1 and 2 diabetes, rather than gestational diabetes. The mechanism of this is not properly understood, but it is generally thought that insulin dysregulation contributes to abnormal fetal development.
31
Facts about Klinefelter syndrome.
| (4)
Up to 75% of males are never diagnosed.
The karyotype is 47, XXY.
Klinefelter syndrome is a disease only of males.
The typical features of Klinefelter syndrome are tall stature, small testicles and infertility.
32
A 5 year old boy is brought to the GP by his mother.
He has been feeling generally unwell over the last 2 days with lethargy, headache, sore throat, runny nose and fever.
He was previously well and is up to date with all scheduled immunisations.
He has developed an erythematous rash on his torso and both cheeks, which blanches under pressure.
His tongue and buccal mucosa appear normal.
**What is the diagnosis? (1)**
**Which of the following is the most appropriate advice to give his mother about the risk of passing the infection to other children?**
**(2)**
* He is no longer infectious and can return to school.
* This boy presents with features in keeping with slapped cheek syndrome (parvo b19).
* Once the rash appears, children are no longer infectious.
33
A baby boy is born to a 40 year old mother and a 42 year old father.
The boy has upslanting palpebral fissures, a small nose with a flat nasal bridge and single palmar creases.
His weight is only on the 20th centile. Which is the most likely physical health complication of his condition?
Atrioventricular septal defect
Individuals with Down Syndrome are likely to suffer from a range of physical health complications.
The most common is congenital cardiac abnormality, with around half of those with Down Syndrome having a cardiac abnormality. Of those cardiac abnormalities, atrioventricular septal defects are the most common.
34
A 2 year old boy presents to the Paediatrics Emergency Department with a harsh **barking** **cough** present at rest.
He appears flushed and his mother reports he is not behaving as he usually would.
He is drooling and struggling to breath.
He has a temperature of 38.5 degrees.
What is the single most appropriate initial action?
**Call for senior paediatrician, an anaesthetist and an ENT registrar.**
This is the correct answer and the most appropriate intervention at this stage.
This child has epiglottitis he presents “toxic” looking (drooling, struggling to breath and a harsh cough).
A senior paediatrician is required to manage the situation with the child and parent.
An anaesthetist and ENT registrar are required to secure the airway either through intubation or through a surgical airway.
*He does not have croup.*
35
A baby presents because she has been coughing to the point of vomiting. Her mother says that she has had a severe cough for the last 5 days.
Sometimes, she coughs so hard that she turns blue around the lips, vomits, and then makes a strange sound as she breathes in deeply.
She vomits white milky fluid after coughing about 3 times per day.
She had red eyes a few days ago and now has had a fever for 3 days.
The baby has otherwise been well, and was born at 39 weeks via spontaneous vaginal delivery after an uncomplicated pregnancy.
The family went to eastern Europe a few weeks ago to visit relatives.
There have been no known sick contacts.
The baby is due her first vaccinations next week.
On examination, the baby appears pink in air, is alert and has vigorous movements. The respiratory rate, saturations and heart rate are in the normal ranges. Her temperature is currently 37.7 degrees. Her anterior fontanelle is soft and her mucous membranes are moist.
**What is the most important investigation for this baby?**
**Bordetella pernasal swab**
This unvaccinated baby with coughing to the point of vomiting followed by a strange sound on inspiration has a history suspicious for whooping cough.
**Paroxysmal** **cough** to the point of vomiting is a red flag suggestive of whooping cough.
Whooping cough is caused by Bordetella pertussis infection, and is diagnosed with a pernasal swab.
36
A 2 year old girl presents to the GP with a fever and a rash.
She has had a fever and runny nose for the last 2 days and developed a lace-like red rash across the trunk and limbs today.
She also has a red rash across the cheeks.
She has not been drinking as much as normal, but is still urinating well.
On inspection, she appears generally well. Her chest is clear and her abdomen is soft. Her temperature is 38.3 degrees.
She has a **reticular rash across the trunk and limbs and a bright red erythematous rash on the cheeks that spares** the nose and around the mouth.
The mother is 15 weeks pregnant.
**What is the likely diagnosis and agent? (2)**
**What condition could this child's infection cause in the foetus?**
**Hydrops Fetalis**
This child with a bright red rash across the cheeks, reticular rash across the body and viral prodrome most likely has **Parvovirus B19 i**nfection.
Parvovirus B19 infection during the first 20 weeks of pregnancy can cause **hydrops** **fetalis**.
37
A five-year old girl presents to the GP with abdominal pain.
The mother is finding it difficult to potty-train her daughter, and the child has reportedly not opened her bowels in over five days.
The mother tells you that when she does open her bowels, she cries, the stool is hard and there is fresh bleeding.
On examination the child appears well.
The abdomen is distended but soft.
**What is the most likely diagnosis?**
Anal fissure
The history from the mother is suggestive of anal fissures and constipation. This will respond to dis-impaction regime of laxatives. A digital rectal exam would be painful and unnecessary in the absence of other worrying features.
38
You are a medical student with the paediatrics team attending an emergency C-section for a 28 week gestation neonate after reverse end diastolic flow was detected on an ultrasound scan.
After delivery, the baby requires resuscitation with rescue breaths.
The baby is grunting, has saturations of 76%, a respiratory rate of 72, and is peripherally cyanosed.
There is evidence of significant sternal and subcostal recession and nasal flaring.
The neonate is intubated, stabilised and transferred to the neonatal intensive care unit.
A chest X-ray at 2 hours after birth shows a diffuse opacities.
**Which of the following is the best option to treat this condition?**
**Artificial surfactant via intratracheal instillation**
Artificial surfactant needs to be given directly into the lungs to be of benefit.
39
The paediatric registrar has been called to see a 7 year old patient in the paediatric emergency department and on assessment notes the following:
The patient appears somewhat drowsy and but is able to open his eyes when spoken to directly.
He is comfortable sat on his mother's lap.
He is not able to identify where he is or remember the names of nursing staff.
There is no response to supraorbital pressure but he does withdraw quickly from pressure on the nail bed in his upper and lower limbs.
His observations are within normal limits for his age.
The registrar has repeated the assessment 5 minutes later and his observations are the same.
**What is the most appropriate score for this patient using the Children's Glasgow Coma Scale?**
11
On assessment this patient is able to open his eyes to voice (3), he appears confused but is not using inappropriate words (4), and is withdrawing from nail bed pain (4). Which gives him a score of 11 on the Children's Glasgow Coma Scale.
40
A 2 month old male presents with projectile vomiting following each feed, and is not gaining weight well. He is otherwise well.
What is the most likely finding on a blood gas?
**Hypokalaemic hypochloraemic metabolic alkalosis**
This patient is presenting with signs and symptoms of Pyloric Stenosis, obstruction of the pyloric sphincter. Individuals will have a hypokalaemic, hypochloraemic metabolic alkalosis due to vomiting and loss of protons.
41
A 14 month old girl is brought to the GP because her mother is concerned she isn't growing properly.
She thinks her daughter's legs and buttocks look really thin, although she has a big tummy.
On questioning, the mother also notes that her daughter's poo smells particularly bad, and is normally quite loose.
She poos about three times a day.
Although she was a big baby until the age of about 8 months, she is now small for her age.
On examination, she has conjunctival pallor, wasting of the buttocks and mild abdominal distention.
Her abdomen is soft with no organomegaly.
You order blood tests and refer for small bowel biopsy.
Once the likely diagnosis is confirmed, which of the following should be excluded from this child's diet?
**Wheat, barley, rye**
This child with loose stool and poor growth since age 8 months (likely after weaning), along with **abdominal** **distension** and signs of anaemia, is most likely to have coeliac disease.
**Coeliac disease** is managed with a diet that excludes gluten. Foods containing **gluten** include wheat, barley and rye**.**
42
A 12 year old, fit boy presents to his GP complaining of a three week history of right hip pain.
There seems to be no history of trauma.
On examination, there is restricted internal rotation and extension of the right hip.
He does not have a temperature and his past medical history is unremarkable.
His immunizations are up to date.
A hip radiograph is unremarkable.
**What is the most appropriate treatment?**
**What is the diagnosis?**
**NSAIDs and bed-rest for up to 6 weeks**
**Transient** **synovitis** is the most common cause of hip pain in children. It affects boys more than girls and is sometimes associated with minor trauma. Limited range of motion, specifically extension and internal rotation of the hip can be found. It is confirmed using a hip x-ray and ultrasound, which shows synovitis. It is treated using NSAIDs and bedrest for up to 6 weeks.
43
A baby boy is born at 36 weeks gestation via emergency caesarean section following the mother developing symptoms of eclampsia. At birth, the baby has no respiratory effort and a very weak pulse of 50 bpm despite multiple attempts to improve, and the decision is made to start chest compressions.
## Footnote
**Which of the following is the rate at which chest compressions should be given?**
3:1
Chest compressions should be given at a rate of 3 compressions to 1 breath in neonatal resuscitation, using two thumbs over the lower third of the sternum.
This should only be attempted in a newborn with a heart rate of \<60 bpm once the airway has been optimised and 5 inflation breaths have been attempted twice, as well as administering oxygen.
It is vital to ensure the lungs have been properly aerates prior to commencing chest compressions.
During chest compressions, heart rate should be re-assessed every 30 seconds.
If despite compressions heart rate remains poor, venous access should be gained and administration of drugs considered.
44
A 10 year old boy with a diagnosis of attention-deficit hyperactivity disorder (ADHD) attends the outpatient psychiatry clinic for review.
He was recently started on Methylphenidate to control his symptoms.
His behaviour has improved, however, he has developed facial tics which he finds distressing.
**Which of the following is the most appropriate drug to switch to for long-term management of his condition?**
**Atomoxetine**
Atomoxetine is another stimulant medication.
It is recommended for ADHD refractory to Methylphenidate or in those who it is not appropriate due to risk factors or development of side effects.
Development of facial tics is an indication to change medications.
45
A 2 month old baby boy is seen by the GP because of difficulty breastfeeding and poor weight gain.
The mother reports that although the baby has a good latch and a strong suck, he gets really tired and out of breath after a few minutes of feeding.
This has been getting worse since he was about a week old.
He was born by spontaneous vaginal delivery at 39+6 weeks after a normal pregnancy and antenatal scans.
On inspection, he is active, alert and smiley.
**There is a 2/6 holo-systolic murmur loudest at the lower left sternal edge.**
The lung fields are clear to auscultation.
His abdomen is soft with no organomegaly.
His temperature is 36.9 degrees.
Plotting his weight on his growth chart shows he has dropped two centiles between 6 and 8 weeks of life.
**What is the most likely diagnosis?**
**Which of the following is the best investigation to definitively diagnose this patient's underlying condition?**
**Echocardiogram**
This infant, with shortness of breath on exertion (whilst breastfeeding), a holo-systolic murmur at the lower left sternal edge and poor weight gain (dropping centiles) most likely has a **ventricular septal defect.**
This is best assessed with an echocardiogram, which would allow visualisation of the defect and characterise its severity.
46
A 5-month-old baby boy is brought into the GP by his parents, as they are concerned that his urine has a strong smell.
Urine dipstick is positive for leucocytes and nitrites and the GP prescribes a course of antibiotics to clear the infection.
This is the third urinary tract infection that has been diagnosed since birth. An ultrasound scan is ordered which shows dilatation of the ureters.
His doctor suspects **vesicoureteric** **reflux**.
**Which of the following is the next best step in this patients management?**
**Refer for Micturating Cystourethrogram (MCUG)**
**Any child under the age of 6 months with recurrent UTIs should be referred for MCUG to rule out vesicoureteric reflux.**
MCUG is the diagnostic test; if radioactive dye is visualised refluxing back up into the ureters and/or kidneys during micturition then Vesicoureteric reflux can be diagnosed.
47
Management of vesicoureteric reflux
Management
* Antibiotic prophylaxis for UTIs.
48
A father brings his 8-month-old daughter to the GP because she has had a cough for the past week.
The cough is not productive, and she has also had a mild fever during this period of time.
The father reports she has been off her feeds but is drinking water as normal.
On examination, no abnormalities were noted.
She has a respiratory rate of 55 breaths/minute, a heart rate of 120, blood pressure is 95/70 and oxygen saturations of 89%.
The GP suspects a diagnosis of bronchiolitis.
**Which of the following is the most appropriate step?**
**Call an ambulance**
NICE recommend immediate referral by ambulance if there is: apnoea (observed or reported), severe respiratory distress, central cyanosis, oxygen saturations \< 92% on air, or if the child looks seriously unwell to a healthcare professional.
The child's low oxygen saturations make this option the correct answer. They will most likely receive humidified oxygen via a head box, and may require nasogastric feeding as they have been off their feeds.
49
**_Management of acute bronchiolitis_**
**_(4)_**
**_Management_**
## Footnote
Prophylaxis: Palivizumab prophylaxis in high risk patients
Supportive care
Oxygen therapy which may escalate to mechanical ventilation
Ribavirin
50
An 18 month old baby boy is brought to A&E with a 3 day history of fever and a one day history of rash.
His parents brought him in after he had a fit, where his arms and legs jerked for 30 seconds.
He was lethargic and irritable afterwards.
The boy is otherwise well and takes no medicines.
All his vaccinations are up to date.
No one else in the family has been unwell or has had previous seizures.
On inspection, the boy appears a little sleepy.
There is a diffuse rose-pink macular rash with surrounding pale halos.
His temperature is 40.0 degrees.
**What is the most likely pathogen responsible for this child's presentation?**
**Human herpes virus 6**
This vaccinated child, with a 3 day history of fever, 1 day history of rash (**rose-pink macules with surrounding pale halos**) and febrile seizure is most likely to have roseola.
**Roseola** is a very common virus that is caused by human herpes virus 6 and is the most common pathogen associated with simple febrile seizures.
51
A father brings in her 4-year-old daughter to the GP because she has been scratching her face a lot recently.
The girl has a past medical history of eczema. She has no other symptoms and is well otherwise.
On examination, there are pustules and vesicles around the mouth.
Some of these lesions have crusted and appear golden.
**Which of the following is the most likely diagnosis?**
Impetigo
Impetigo is a bacterial skin infection most often caused by Staphylococcus aureus or Streptococcus pyogenes.
It can occur as a primary infection or as a complication of an existing condition, such as eczema. Impetigo presents with golden, crusted skin lesions usually around the mouth and nose.
Since this patient presented with localised disease, first line treatment would be with topical Fusidic Acid.
52
A cyanotic newborn is diagnosed with transposition of the great arteries.
Which of the following medications should be administered, whilst awaiting surgical treatment, to maintain patency of the ductus arteriosus?
Alprostadil
This is prostaglandin E1. Prostaglandins will prevent the ductus arteriosus from closing.
53
An 11 year old girl is brought to the GP because her mother is 'beyond despair with her'.
The mother reports that her daughter is consistently hostile and angry towards her.
She always does the opposite of what she asks her to do, shouts at her mother if she tries to get her to do anything, and insults her mother at every opportunity.
Otherwise, the girl is fit and well.
She has not yet reached puberty.
She is getting on well at school, although occasionally her report card mentions that she talks back to teachers.
She has lots of friends and gets on well with her younger brother.
**What is the most likely diagnosis?**
**Oppositional defiant disorder**
This 11 year old girl shows persistent defiant and hostile behaviour towards her mother, a figure of authority. Given that this is having an impact on their relationship, but she is otherwise getting on well socially with her peers and performing well at school, there is no significant debility that would be more consistent with conduct disorder.
54
A 5 day old baby girl born at 36 weeks gestation is seen at home on a routine midwife visit.
The baby was born via planned caesarean-section due to placenta praevia and was her mother's first child.
She is breastfed and has been feeding well.
The baby's mother is generally fit and well, and her father has a past medical history of type one diabetes mellitus.
The midwife advises the baby's parents that she is at higher risk of neonatal jaundice.
**Aside from prematurity, which of the following features is a risk factor for neonatal jaundice?**
* Delivery via caesarean section
* Breastfeeding
* Paternal history of diabetes mellitus
* Firstborn child
* Female gender
**Breastfeeding**
Breastfeeding is associated with a higher incidence of jaundice, and can persist beyond 14 days of life in some cases (usually resolving by 4 weeks).
The exact mechanism behind breast milk jaundice is unknown, although it is thought to be secondary to certain substances within breast milk which effect bilirubin metabolism.
55
A 2-year-old girl comes to the GP with her parents.
Her parents are concerned she is having difficulty growing.
They say that over the past month she has felt tired and lethargic, and has intermittent diarrhoea.
His growth chart shows she has dropped from the 75th centile for height and weight to the 25th centile in the last 6 months.
**On examination there is a vesicular rash on the child's knees.**
Her doctor suspects coeliac disease.
**Which of the following would be the next most appropriate investigation?**
**Tissue transglutaminase (TTG) antibodies and total IgA**
The growth difficulties along with abdominal distension and diarrhoea are suggestive of coeliac disease.
The rash described is most likely **dermatitis** **herpetiformis**, which is strongly associated with the condition.
The next best investigation would be to look measure anti-TTG levels (raised in coeliac disease), as well as total IgA, because IgA deficiency could lead to a false negative result.
56
A 3-year-old girl presents to her GP as her parents are worried about several symptoms.
They say she has been feeling very tired over the last two weeks, and looks more pale than usual.
She has not been going to pre-school as often over the past month because of recurrent infections.
On examination, the child appears pale, and there is bruising on her legs. Urine dipstick is normal.
**Which of the following is the most likely diagnosis?**
**Acute lymphoblastic leukaemia (ALL)**
This child is presenting with three core signs of ALL: **neutropaenia** (recurrent infections), **anaemia** (pallor, fatigue) and **thrombocytopaenia** (purpuric rash).
* ALL is the most common childhood leukaemia, and it's peak incidence is in 2-5 year olds, affecting slightly more males than females
57
A 3-year-old girl presents to the GP with a five day history of fever, runny nose and cough.
This morning her parents noticed an erythematous rash had appeared on her forehead.
On inspection, the child appears irritable.
She has a blanching maculopapular rash that has now spread across her face and neck, and on her buccal mucosa she has **multiple grey spots.**
Her notes show that she had chickenpox when she was 11 months old, but, otherwise she is normally fit and well.
Her parents did not bring her to the last scheduled immunisation appointment.
**_What is the likely diagnosis?_**
**_Which of the following complications is she most at risk of?_**
Measles
**Otitis media**
The prodromal symptoms of cough, coryzal symptoms and fever, with the subsequent development of a blanching maculopapular rash and **Koplik** spots (grey spots inside the cheek) in an unvaccinated child indicates that the most likely diagnosis is measles.
**Otitis media is the most common complication seen in children with measles.**
58
A 15 year old attended a GUM clinic after school for a check-up. He is well and asymptomatic.
He has no past medical history.
His urinalysis at the clinic incidentally revealed 1+ protein.
Following the clinic’s advice, he sees general practitioner the next morning who repeats the urine dip which showed a trace of protein.
His observations are all stable.
His abdominal and genitourinary examinations are unremarkable.
**What is the next most appropriate step?**
**Repeat urinalysis in 6 hours**
The history indicates a fluctuating course of otherwise asymptomatic proteinuria.
Importantly, the proteinuria was incidentally found towards the end of the day the first time round and appears to be resolving the next morning.
This could likely indicate that has **orthostatic** **proteinuria**.
Orthostatic proteinuria, also known as postural proteinuria, is a condition where an abnormally large amount of protein is excreted in the urine when the patient is in an upright position and normal protein excretion in the supine position.
It is the most common cause of persisting proteinuria in the paediatric population.
Throughout the life-course, its peak incidence is during adolescence.
Repeating the urinalysis later in the day after the patient has been ambulating to see if there's an increase in the proteinuria would help confirm the diagnosis.
Note a 1+ protein on a urine dipstick is considered positive, whereas trace protein is not.
59
A 4 month old baby boy is brought into A&E by his parents who are very worried about his breathing, they think he stopped breathing briefly this morning.
He has been unwell for the past two days and hasn't been very easy to settle at night.
His mother reports that he has been feeding less than normal and has had a dry cough.
On examination the baby is noted to have a respiratory rate of 40/min, a heart rate of 160 bpm and is using his accessory muscles, but no evidence of cyanosis.
A widespread wheeze can be heard. A chest x-ray is shows no noticeable abnormalities.
Given the presentation what is the most likely underlying diagnosis?
Bronchiolitis
Bronchiolitis is the most likely cause of respiratory distress in this age group.
It often presents with laboured breathing (accessory muscles).
Intermittent apnoea is a relatively common finding and a clear CXR doesn not rule bronchiolitis out.
There is no rapid diagnostic test available for bronchiolitis so the diagnosis and decision to initiate management is based on clinical judgment.
60
A newborn boy is cyanotic from shortly after birth. His cyanosis worsens upon crying. On examination, his chest is clear and a systolic murmur is can be heard. An excerpt from his transthoracic echocardiogram is below:
## Footnote
*Atria normal size. Atrial septum intact. Ventricles normal size. Large ventricular septal defect noted with over-riding aorta. Aortic arch normal. Accompanying ECG normal. Stenosis to right ventricular outflow tract above the pulmonary valve. The ductus arteriosus is patent.*
**Which finding from the echocardiogram is most important in determining the severity of his cyanosis?**
Degree of right ventricular outflow tract obstruction
This boy has tetralogy of Fallot. The tetrad consists of a ventricular septal defect, an aorta that overrides the VSD, an obstruction to the right ventricle's outflow tract and right ventricular hypertrophy. The hypertrophy tends to develop with time so is not always immediately visible. Of the four features, it is the degree to which to RV outflow tract is obstructed that is the greatest determinant of the magnitude of the shunt, and accordingly, the degree of cyanosis.
61
A newborn boy is noted to have an abnormal face.
His upper lip is thin, accompanied with a smooth philtrum and small jaw.
He is additionally noted to have a **pan-systolic murmur.**
**Which risk factor best explains the boy's examination findings?**
Maternal alcohol consumption
The phenotype described is consistent with foetal alcohol spectrum disorder, the most common cardiac involvement of which includes septal defects. It is important to remember current research indicates that there can be no recommendation of a 'safe dose' of alcohol during pregnancy and pregnant women should ideally be teetotal.
62
A male infant is born prematurely at 28 weeks gestation by emergency caesarean section.
He is recovering well; however, ten days later he develops abdominal distension and passes bloody stools.
He also brings up a small amount of green-stained vomit.
**Which of the following is the most likely diagnosis?**
Necrotising enterocolitis (NEC)
NEC presents with **bilious** **vomiting** and **rectal** **bleeding**.
Prematurity is a key risk factor.
It can be diagnosed with an abdominal x-ray, and there are several signs which may be present: pneumostosis intestinalis, bowel wall oedema, dilated bowel loops, and pneumoperitoneum if there is perforation.
It is managed with broad-spectrum antibiotics and parenteral nutrition.
Sometimes surgical resection of necrotic bowel is required.
63
A 4 year old girl who recently started school is brought to her GP with a 24 hour history of feeling generally unwell, tiredness and headache.
She has been eating and drinking but less than normal.
Her mother states that she is usually happy and healthy but seems to have got gradually worse today.
No one else in her class has been unwell.
She has no past medical history and does not take any regular medications.
On examination the child looks unwell and appears quite withdrawn.
Vital signs:
* pulse 100bpm
* BP 110/70
* respiratory rate 22/min
* oxygen saturations 98%
* temperature 38.5 degrees C
Systems examination is unremarkable.
She has cold hands and feet and a non-blanching purpuric rash on her left upper thigh.
**What should the GP's initial management be?**
**Intramuscular benzylpenicillin.**
Early treatment should be given even when meningococcal infection is suspected, with intramuscular or intravenous benzylpenicillin.
64
**_Varocele vs Hydrocele_**
**_Varicocele_**
* Varicoceles are caused by varicosities in the pampiniform plexus and present with a lump (more common on the left) that feels like a 'bag of worms'.
* Varicoceles do not trans-illuminate.
**_Hydrocele_**
* Hydroceles result from fluid accumulation within the tunica vaginalis.
* They present as soft, non-tender swellings which trans-illuminate with a pen torch.
* Diagnosis is usually clinical but ultrasound should be used if there is any doubt.
* Infantile hydroceles usually self-resolve; however, if they are still present by 2 years of age, surgery may be required.
65
A 4 year old girl who recently started school is brought to her GP with a 24 hour history of feeling generally unwell, tiredness and headache.
She has been eating and drinking but less than normal.
Her mother states that she is usually happy and healthy but seems to have got gradually worse today.
No one else in her class has been unwell.
She has no past medical history and does not take any regular medications.
On examination the child looks unwell and appears quite withdrawn.
**Vital signs:**
* pulse 100bpm
* BP 110/70
* respiratory rate 22/min
* oxygen saturations 98%
* temperature 38.5 degrees C
Systems examination is unremarkable.
She has cold hands and feet and a non-blanching purpuric rash on her left upper thigh.
**Which pathological process is leading to these symptoms? (3)**
**What is the organism? (1)**
**_Intravascular coagulation_**
The pathological process is triggered by
1. **bacteria entering the circulation,** initiating inflammatory processes
2. leading to **capillary leakage and intravascular thrombosis**
3. this consumes the clotting factors rendering people coagulopathic
Meningococcal infection is caused by **Neisseria** **meningitidis**, a gram-negative intracellular diplococcus.
66
A father brings in his 11-year-old daughter to paediatrics A&E because she has been complaining of a headache since this morning.
She complains that the lights in the waiting room are hurting her eyes and says her neck feels stiff. On examination there is a purpuric rash across the child's torso.
She has a heart rate of 130/min, a respiratory rate of 25, and a blood pressure of 90/65 mmHg.
**Given the likely diagnosis of meningococcal septicaemia, which one of the following investigations is contraindicated?**
**Why?**
**Lumbar puncture**
This child has presented with classic symptoms of meningitis (neck stiffness, photophobia, headache) as well as sepsis (tachycardia, tachypnoea, hypotension, petechial rash), known as meningococcal septicaemia.
This is a contraindication to a lumbar puncture **due to the risk of coning.**
Other contraindications include raised intracranial pressure, focal neurological signs, coagulation disorder, cardiovascular instability, and if it will delay administration of antibiotic medication.
67
A 5 year old boy presents to the GP with his father.
He has had a fever, runny nose and cough over the last few days and has now developed a red rash all over his body.
His father is uncertain about which immunisations the boy has received.
On examination the boy has an erythematous, blanching maculopapular rash all over, with grey spots on his buccal mucosa.
**Which of the following is the most likely cause of his symptoms?**
**What are the spots called?**
Measles.
A rash with fever in the context of an incomplete or uncertain immunisation history should be considered as measles.
This boy also has Koplik’s spots on his buccal mucosa which supports the diagnosis.
68
An 18 month old boy has been referred to the paediatric team as he is unable to walk.
He does not appear to be in pain and his joints are not swollen or tender. His legs have an increased tone compared to his arms.
His mother reports that she delivered him at 42 + 5 via a normal vaginal delivery which was prolonged, and required an emergency instrumental delivery in the theatre.
There is no history of any musculoskeletal problems in the mother’s family.
The father’s oldest brother had a congenital developmental dysplasia of the hip.
He developed jaundice on day two, which peaked on day 7 and gradually resolved. He was exclusively breastfed for 3 months.
There are no concerns with the other domains of his developmental milestones.
**What is the most likely aetiology behind this late ability of walking?**
**Hypoxic ischaemic encephalopathy (HIE)**
* Infants at risk of hypoxic ischaemic encephalopathy are those \>42 weeks who get stuck during a prolonged labour.
* HIE is a common antenatal cause of cerebral palsy.
* Children with cerebral palsy present with delayed achievement of motor milestones and hypertonia.
69
A father brings his 6-month-old daughter to the GP because she has had a cough for the past week.
It is not productive and he reports she has also had a mild fever during this time too. She has been off her feeds but drinking water as normal.
On examination, no abnormalities were noted. Immunisations are up to date.
She has a respiratory rate of 60 breaths/minute, a heart rate of 110, blood pressure is 95/70 and oxygen saturations of 90%.
**Which of the following is the most likely diagnosis?**
Bronchiolitis
A non-productive cough, tachypnoea and intercostal recession in a child this young suggest bronchiolitis, which most commonly affects infants \< 1 year of age. It is very common in the winter and is caused by respiratory syncytial virus. This child needs to be taken to a hospital urgently, where they will most likely receive humidified oxygen via a head box, and may require nasogastric feeding as they have been off their feeds.
70
A baby boy is born by emergency C-section at 29 weeks gestation. The baby weighs 1050 grams.
The APGAR scores are 3, 4 and 5 at 1, 3 and 10 minutes of life respectively.
The baby is intubated and transferred to the neonatal intensive care unit, where they are given an intra-tracheal instillation of synthetic surfactant.
For the next 2 weeks, high FiO2 levels are required via the endo-tracheal tube to maintain the baby's oxygen saturations.
The baby is screened every 2 weeks by an ophthalmologist.
**What is the mechanism of the condition that the ophthalmologist is screening for?**
**Free radical damage to the retina**
This premature baby with a very low birthweight that requires high levels of FiO2 is at very high risk for retinopathy of prematurity (ROP).
ROP is caused by free radical damage to the retina from high oxygen levels.
71
A 3 year old boy presents to the emergency department with difficulty breathing, throat pain and is **drooling**.
He hasn't tolerated oral intake all day.
**What is the most likely diagnosis?**
**Epiglottitis**
Epiglottitis involves inflammation of the supraglottic tissues including the epiglottis.
It most commonly presents in children aged 1-5 years old. Children present looking toxic.
They have inspiratory stridor, dysphagia, sore throat and are drooling.
Do not distress the child by examining the child.
Patients should be treated with humidified oxygen and the airway should be secured.
72
A 6 year old patient is recovered from a local swimming pool and is found to be unconscious, and not breathing.
## Footnote
**What is the most appropriate initial management of this patient?**
5 rescue breaths
Children are more likely to suffer a respiratory arrest, especially in cases of drowning.
Therefore, prior to starting chest compressions, the first treatment in these patients is five rescue breaths.
73
A young boy aged 4 is brought in by his parents to the paediatric development clinic as he was very late to start walking and still stumbles frequently.
On assessment you observe the following: he is able to copy a vertical line but unable to copy a cross or square.
He is also unable to balance on one leg.
On further review of his inpatient notes you see that he was treated surgically for duodenal atresia as a neonate, he was also noted to have an atrioventricular septal defect at birth.
**What is the most likely mode of inheritance for this particular disease?**
**Meiotic non-disjunction**
This is the most common cause of trisomy 21 (94%) with most cases resulting from an error during meiosis which leads to a gamete with 2 copies of chromosome 21 being produced.
The incidence of trisomy 21 resulting from non-disjunction is related to maternal age.
The average risk for all ages of having a child affected by Down syndrome is 1 in 650, the risk at a maternal age of 20 years is 1 in 1530, compared to the risk at a maternal age of 40 of 1 in 110.
74
A 2 year old male is brought into the emergency department by his parents, who have recently moved to the UK from Malawi.
He has a two day history of poor feeding and appearing generally unwell.
On examination he is crying and drooling heavily, and a stridor can be heard from the end of the bed.
**What is the most appropriate initial management of this patient?**
Dexamethasone
75
A 6 month old baby boy is an inpatient on a paediatric hospital ward for a chest infection.
He has been sleeping quietly in his cot but when a nurse checks on him, he is unresponsive and looks blue.
The nurse ensures that it is safe to approach him, calls for help and opens his airway by tilting his head back and lifting his chin.
The nurse looks for chest movements and listens for breath sounds, observing infrequent, noisy gasps, less than once every 3 seconds.
She cannot feel a pulse.
She administers 5 rescue breaths before commencing a cycle of repeating chest compressions and rescue breaths.
**Under which of the following circumstances should resuscitation be stopped?**
Child shows signs of life.
If the child shows signs of life (movement, coughing, crying, normal breathing or definite pulse more than 60 beats per minute), resuscitation should be stopped.
76
A 16 year old girl presents to the GP with her mother because she is yet to start her periods.
She has never had a period of any kind.
She also complains of having very small breasts and wishes she were taller. She is normally fit and well.
She does not take any medicines.
Her mother started her periods at age 12.
At school, she is doing well and is taking 11 GCSE's.
She has never been sexually active.
On inspection, she is short, has minimal breast tissue and her nipples are far apart.
Her abdomen is soft and non-tender.
She has normal external female genitalia.
There are no abnormalities on bimanual vaginal examination.
A urine pregnancy test is negative.
**What is the most likely chromosomal abnormality in this patient?**
**XO karyotype**
This teenager who has never menstruated with minimal breast development and widely-spaced nipples most likely has **Turner's** **syndrome**.
Turner's syndrome is caused by a chromosomal abnormality of an XO karyotype.
77
A 15 year old girl presents to the GP for short stature.
She is currently on the 2nd centile for height.
She has not had her first period.
She has a low posterior hairline and a shield-shaped chest.
She is on the 50th centile for weight.
She has had no change in her bowel habit and does not complain of tiredness.
She does not have any headaches or any visual changes.
Her mother reports that she was born at 32 weeks.
What is the most likely diagnosis?
**Turner’s syndrome**
This fits the clinical picture of dysmorphic changes and amenorrhoea. Short stature in a female who has not had her first period, with the classic features of a shield-shaped chest, webbed neck and a low posterior hairline is strongly suggestive of Turners syndrome.
78
A 12 year old boy of afro-caribbean descent is seen in the emergency department with a 3 day history of severe hip pain on the right side and a limp.
His mother has been treating him with regular paracetamol but this has had no effect on the pain.
His BMI is recorded as 32.7 and his observations are all normal.
On examination there is a reduced range of motion in both active and passive flexion of the right hip.
**What is the single most likely cause of his presentation?**
**Slipped upper femoral epiphysis**
* Slipped upper femoral epiphysis (SUFE) is the most common hip disorder in the adolescent age group, particularly in those who are obese.
* It occurs when weakness in the proximal femoral growth plate allows displacement of the capital femoral epiphysis.
79
An anxious mother presents to the GP with her nine month old boy.
She reports he had a difficult birth, was born two weeks premature, and required a short stay on the NICU.
The mother is worried he is not developing quickly enough.
On examination the infant has no interest in sitting and has a rounded back and poor head control.
The legs are pointed, stiff and scissor, and when held up, the child makes no attempt to weight bare.
**What is the clinical picture suggestive of?**
**Cerebral palsy**
* In an infant with difficult birth and a NICU stay, cerebral palsy is most likely the cause of the delayed motor development.
* The infant is at risk of hypoxic-ischaemic brain injury and intraventricular haemorrhage.
* Cerebral palsy is a non-progressive motor deficit, often present from birth.
80
A 3 day old baby boy is brought to A&E after an episode of green vomiting.
The baby was born at 39 weeks by a spontaneous vaginal delivery after an uncomplicated pregnancy.
Up until this morning, he has been well, breastfeeding with a good latch and passed urine and meconium before leaving the hospital 36 hours after delivery.
He had one dark green vomit one hour after feeding at 7am, and a second dark green vomit on arrival in the department.
On examination, the baby appears unwell and is screaming inconsolably. Abdominal examination is difficult as the infant is crying.
**Which investigation will confirm the likely diagnosis?**
**What is the likely diagnosis?**
**Upper gastrointestinal contrast study**
This baby with bilious green vomiting a few days after birth has a history suspicious for malrotation.
An upper GI contrast study should be performed urgently to confirm the diagnosis.
This baby will require surgery to correct the **malrotation** and resulting obstruction.
81
A 1-year-old child presents to the GP with her parents who are concerned because she has been unwell for the past 4 days.
They say for the first 3 days his temperature was 38.4C, and this has since not recurred.
They are now worried because since yesterday they have noticed a rash on his chest, with minimal spread.
On examination there is cervical lymphadenopathy and a maculopapular rash on the child's chest.
He is afebrile.
**What is the likely diagnosis?**
**How is its progression characterised?**
**What is the infective agent?**
**What is the most common complication of this disease?**
**Febrile convulsions**
* This child has **roseola** **infantum**, a common disease in children
* characterised by an initial high fever followed by a maculopapular rash.
* It is caused by **human herpes virus 6**.
* Febrile convulsions occur in up to 15% of children with the disease
82
A 14 year old boy is brought to the GP by his mother because she is 'at her wit's end' with him.
For the past 4 years, she reports his behaviour has been out of control.
He has been excluded from school 4 times for punching other students in the playground and graffitiing school property.
He has been barred from the local corner shop for stealing snacks and his mother no longer keeps cash in the house because he just takes it.
His mother says she has never had any problems with her other son, who is 16 and doing well at school. When you ask the boy about his behaviour, he just shrugs and looks bored whilst his mother cries.
**What personality disorder is most associated with this patient's disorder?**
**Conduct disorder**
This boy with physically aggressive behaviour, destructive tendencies and problems with stealing has conduct disorder. About 50% of children with conduct disorder will meet the criteria for antisocial personality disorder. Antisocial personality disorder (diagnosed over 18) and conduct disorder (diagnosed at under 18) share the main feature of a disregard for the rights and feelings of others, with destructive and aggressive behaviour to match this. Antisocial personality disorder is strongly associated with criminal behavior. An estimated 10% of the general population has some form of personality disorder.
83
A **5 hour old neonate** born at 36 weeks gestation is found to have significant hyperbilirubinaemia during assessment is noted to have increased **lethargy** and be **hypotonic** on examination.
The medical team is concerned that the infant has developed an acute **bilirubin** **encephalopathy**.
**_What is the cause of ABE?_**
It is caused by a toxic build-up of unconjugated bilirubin
ABE is a condition caused by sustained and severely elevated levels of unconjugated bilirubin within the central nervous system. In very high levels, unconjugated bilirubin crosses the immature blood brain barrier of neonates and, as it is lipid soluble, is able to penetrate neuronal and glial membranes. The exact mechanism of bilirubin- induced neurotoxicity is not completely understood but is believed to be multifactorial including neuroinflammation and excitotoxicity.
84
A newborn baby boy born at 38 weeks gestation receives a newborn assessment in hospital 8 hours after birth.
It is noted during this check that the baby is jaundiced and is quite lethargic, and hepatosplenomegaly is found on examination of the abdomen.
His mother was in the country visiting family when she gave birth and did not receive antenatal care for this or her previous pregnancy in the UK.
The baby's blood group is currently unknown, but the mother's blood group is known to be AB rhesus negative and the father's blood group is known to be O rhesus positive.
**Which cause of neonatal jaundice is it important to urgently investigate in this patient?**
**Haemolytic disease of the newborn- caused by Rhesus incompatibility**
This would be a key differential to exclude in this baby.
Rhesus incompatibility, also known as rhesus disease, is a condition caused by anti-rhesus antibodies created in the mother and transferred via the placenta to the foetus, which can in turn lead to haemolysis, severe hyperbilirubinaemia and anaemia.
Most commonly it is caused by anti- rhesus D Ig G antibodies which can occur in a rhesus D negative mother with a rhesus D positive child- this situation can occur if the child's father is rhesus D positive.
In the UK, rhesus disease has been largely eliminated by identifying rhesus D negative mother's early in pregnancy and administering prophylactic anti-D immunoglobulin injections at 28 weeks and again after birth if the baby is confirmed to be rhesus D positive.
85
You are an FY2 in Paediatrics working on the neonatal unit.
A 3 day old premature baby boy, born at 34 weeks' gestation by emergency C-section, has had several episodes where he has stopped breathing.
The baby has started breathing again spontaneously after about 10-15 seconds.
These episodes have been accompanied by bradycardia.
He has been on a ventilator since delivery, and attempts to wean his ventilation have not been successful.
On examination, the pulse is bounding and there is a continuous machine-like murmur heard loudest at the upper left sternal edge.
**Which medication would help with this presentation?**
Indomethacin
This baby with a collapsing pulse, continuous machine-like murmur and apnoeic episodes with bradycardia most likely has a persistent ductus arteriosus.
If symptomatic, this can be managed medically with a prostaglandin synthesis inhibitor (NSAID) like indomethacin, causing vasoconstriction to close the duct.
86
A two year old boy presents with abdominal pain and rectal bleeding.
## Footnote
**Which scan would be most useful for confirming the diagnosis?**
**What is the likely diagnosis?**
**Technetium scan**
A technetium scan, using radioactive metastable technetium-99, will highlight ectopic gastric mucosa in a symptomatic **Meckels**' **diverticulum**.
This is the commonest cause of per rectal bleeding in a child.
87
A 5 year old boy presents to the GP with his father. He has had a fever, runny nose and cough over the last few days and has now developed a red rash all over his body.
His father is uncertain about which immunisations the boy has received.
On examination the boy has an erythematous, blanching maculopapular rash all over, with grey spots on his buccal mucosa.
**Which of the following options is the most appropriate advice to give his father about the risk of passing the infection to other children?**
**What is the infection?**
This boy presents with features in keeping with **measles** infection, which is self-limiting, but **remains infectious for around 4 days after the rash has cleared up.**
88
An 8 year old boy comes to A&E via ambulance after he developed difficulty in breathing after having a bite of his friend's sandwich in the playground.
On examination he appears unwell. His tongue and lips are swollen and he is making a rasping sound on breathing in. His respiratory rate is 44 and his oxygen saturations are 90% on air, with diffuse wheeze heard on auscultation. He is pale and clammy.
**What is the most appropriate next step in management?**
**300 micrograms IM adrenaline (1:1000)**
This child with sudden onset respiratory distress, lip and tongue swelling, and inspiratory stridor immediately after eating demonstrates acute anaphylaxis.
The friend's sandwich could have contained peanut butter, a very common food trigger. The most important initial treatment for anaphylaxis is adrenaline. The child is age 8, falling in the age bracket of 6-12, where the correct dose of adrenaline is 300 micrograms 1:1000 IM adrenaline.
89
A paediatrician is called to assess a 1-day-old neonate on the maternity ward.
He was born at 40+2 weeks via normal vaginal delivery.
Overnight, his mother became concerned that he had started to turn blue and was struggling to breathe. S
he reports that during her pregnancy she was diagnosed with gestational diabetes, however, this was well controlled and all antenatal scans had come back as normal.
On examination, the child is centrally cyanosed, tachypnoeic and heart sounds are normal apart from **a loud S2.**
The pulse oximeter is detecting saturations of 77% on room air.
**What is the most likely diagnosis?**
**Transposition of the great arteries (TGA)**
This neonate has presented with cyanosis within the first 24 hours of life and a loud single S2 which makes TGA the most likely diagnosis.
The incidence is also higher in male infants, and infants of diabetic mothers.
90
A 10 year old boy presents to his GP with his mother.
Over the last six weeks, he has had four distinct episodes of breathlessness and cough.
Three of these episodes have been after visiting a friend's house who owns three cats and whose parents smoke, but today he had an episode at his own home.
He feels otherwise well and is afebrile, with normal vital observations for his age.
On auscultation of the chest, the GP hears widespread wheeze.
**What is the most appropriate test to make a definitive diagnosis?**
Spirometry
This boy presents with symptoms of asthma. Investigation should include spirometry which can be done before and after bronchodilator adminstration
91
A 10 year old boy is brought to A&E by ambulance. His mother called 999 when he became short of breath at home, shortly after smoke from a neighbour's bonfire had been drifting into the house through open windows. The boy has a history of asthma but rarely needs to use his salbutamol inhaler. When he used it today, it did not have any effect. He says his chest feels tight and he cannot complete sentences without pausing for breath. He does not have pain anywhere. Paramedics have given him nebulised salbutamol in the ambulance, which has helped a little, but the boy's peak expiratory flow reading is 40% of that expected for his age.
Vital observations: BP 105/70, pulse 140bpm, respiratory rate 40/min, O2 saturations 96% on nebulised salbutamol without oxygen, temperature 37 degrees C. On physical examination there is widespread bilateral wheeze audible both at the bedside and on auscultation.
Which is the next most appropriate management of his presentation?
Nebulised ipratropium bromide.
This boy presents with acute severe asthma. Given that he has already received salbutamol via inhaler and nebuliser and still has symptoms, the next most appropriate step is to administer ipratropium bromide via a nebuliser.
92
A two-week-old boy is admitted following a five day history of vomiting, abdominal distension and passage of blood stained stools.
He was born at 32 weeks due to ruptured membranes.
On examination, there is generalised abdominal tenderness, absent bowel sounds, and abdominal x-ray shows dilated loops of bowel and pneumatosis intestinalis.
**Which of the following is the most likely diagnosis?**
**Necrotising Enterocolitis**
The clinical signs described and prematurity point towards a diagnosis of necrotising enterocolitis (NEC).
Pneumatosis intestinalis or gas in the gut wall is pathognomonic.
93
A 6 year old boy presents at GP with a 3 day history of agitation and reduced feeding.
His parents report that he has been tearful and is eating about half of what would be normal for him.
He is drinking normally and talking. His mother hasn't noticed a cough. On examination he is slightly febrile with a temperature of 38.2.
Some cervical swelling is noted on the right side.
The tonsils appear enlarged, inflamed and a purulent exudate is noted.
His mother states she is very worried because the last time this happened he was given penicillin by the doctor, but had to stop taking it because he developed a rash.
**Given the most likely diagnosis what is the most appropriate treatment?**
Erythromycin for 5 days
Correct. This child has reached 4/4 on the CENTOR criteria regarding the prescription of antibiotics in tonsillitis/sore throat.
Research has shown that patients with a score of 3 or more would benefit from taking antibiotics leading to a 1 day reduction in overall recovery time.
Current guidance is to offer treatment for 5-10 days to ensure complete eradication of strep. pneumoniae (most likely cause) and prevent further complications.
94
A 2 year old girl presents to the GP with a fever and a rash.
Her mother reports she has had a high fever for 2 days and a red rash with little bubbles on her hands and feet. She is otherwise well and takes no regular medications. Her vaccinations are up to date. No one else in the family has been unwell.
On inspection, the child is hard to settle but appears generally well. On examination, there is a vesicular rash on an erythematous base on the palms and soles. There are also small vesicles scattered across the buccal mucosa.
Which is the most likely pathogen causing this patient's infection?
**Coxsackie A virus**
* This child with a vesicular rash on the palms, soles and buccal mucosa along with a fever most likely has hand-foot-mouth disease.
* Hand-foot-mouth disease is a common childhood infection caused by Coxsackie A virus.
*Note: Coxsackie B virus causes myocarditis*
95
A 5 year old boy is taken to the GP by his mum because he has had a limp. The limp has only been slight but his mum says it has got worse over the last 6 weeks. The boy says his right hip is a little sore when he runs. He has not had a fever, weight change or any recent illnesses and he is otherwise healthy.
On examination, the child appears well and the hips appear normal. Movements of the right hip are mildly restricted by pain.
**An X-ray of the right hip shows an irregular fragmented outline of the femoral head.**
**Which of the following is the mechanism of this child's condition?**
Avascular necrosis
This boy with gradual onset limp over the course of 6 weeks most likely has a diagnosis of perthes disease.
**Perthes disease describes avascular necrosis of the femoral head in children aged 4-8.**
96
A 7-year-old girl presents to A&E with her parents because over the last 24 hours her right eye has become swollen, erythematous and tender.
This is on the background of a 4 day history of a frontal headache exacerbated by bending forward as well as copious amount of green mucous when she blows her nose.
Yesterday, she noticed that her vision had become blurry and she was often seeing double.
On clinical examination, her right eye is oedematous and erythematous.
Visual acuity is 6/12 in the right eye and 6/6 in the left; visual movements in the right eye are limited in all directions due to pain.
Her temperature is 38.7 degrees.
**Which of the following is the most likely diagnosis?**
**_Orbital Cellulitis_**
This child has presented with erythema and oedema around one eye, fever, reduced visual acuity, and painful eye movements which makes the most likely diagnosis orbital cellulitis.
Bacterial sinusitis (frontal headache, fever, excessive mucous) is a common trigger.
Orbital cellulitis affects the deeper structures such as orbital muscles and fat, which is why it causes visual symptoms and limits eye movements, unlike preseptal cellulitis.
97
A 3-day-old neonate presents to paediatric A&E with his concerned parents.
He was born at 39+2 weeks following spontaneous vaginal delivery, and was discharged from hospital yesterday evening after being established on bottle feeding.
His parents are worried as this morning he vomited a large quantity of bile stained vomitus.
He is still yet to pass meconium.
On examination of the abdomen, distension is noted, but there are no palpable masses.
**Which of the following is the most likely diagnosis?**
**_Meconium Ileus_**
Meconium ileus typically presents in the first few days of life as a delay in passing meconium (\> 48 hours) and features of bowel obstruction (bilious vomiting).
Diagnosis is confirmed with abdominal x-ray which shows characteristic findings of a 'bubbly' appearance of the intestines and lack of air-fluid levels.
The delay in passing meconium makes meconium ileus more likely that malrotation.
98
A concerned mother brings her 6-year-old daughter to paediatric A&E because she has noticed a new **non-blanching rash** and is worried her daughter has meningitis.
The mother reports that her daughter has complained of a sore throat and cough over the past week, which has since improved.
On examination, the girl's legs are covered with a **petechial** rash.
Blood tests show low platelets but no other abnormalities.
Urine dipstick is normal.
Which of the following is the mostly likely diagnosis?
**_Immune thrombocytopenic purpura_**
Immune thrombocytopenic purpura (ITP) is the most likely diagnosis, which can commonly follow a viral infection or vaccination.
It presents with an isolated thrombocytopenia and causes a petechial rash.
In children it is a self-limiting disease and the majority of cases resolve spontaneously within 3-6 months.
99
A 4 year old boy is brought to A&E after several episodes of fainting.
His mother reports that over the last few weeks, her son has reported feeling dizzy and has fainted on 3 occasions.
During these episodes, he has felt dizzy before, lost consciousness for about 10 seconds, and then regained consciousness quite quickly with no confusion afterwards.
When unconscious, he has not moved, bit his tongue or been incontinent of urine.
He has otherwise been well with no fevers, and the rest of his systems review is negative.
An ECG in the department shows no association between the P waves and the QRS complexes.
**Which of the following diagnoses is the mother most likely to have?**
**Systemic lupus erythematosus (SLE)**
It is thought to be caused by the presence of maternal anti-Ro and/or anti-La antibodies in the maternal serum, although the exact mechanism is poorly understood.
100
A 15 year old girl is admitted with pneumonia which is being treated with clarithromycin.
She has been having regular temperatures despite regularly taking paracetamol so has had ibuprofen added to help control her temperatures.
She has also been prescribed cyclizine as required to help with her nausea.
She was commenced on the progesterone only pill two months ago by her GP.
Her past medical history includes long-QT syndrome.
**Which drug should be changed on her drug chart?**
**Clarithromycin**
Macrolides are a drug class associated with prolonging the QT interval.
If a patient with long-QT syndrome is commenced on a drug associated with prolonging the QT interval, they should have regular ECGs to monitor the QT interval to ensure it does not lengthen and further put the patient at risk of **ventricular** **tachycardia.**
101
A two month old boy is brought to the emergency department following two temperatures at home measuring 38.6C and 39C.
He is off his feeds.
He was born to at term and has been well since birth.
Examination is unremarkable.
**In light of his presentation, which investigation is required?**
**Lumbar puncture**
All children under three months with even a single temperature warrant a medical assessment.
Part of their septic initial septic screen should include blood cultures, urine cultures and CSF cultures - as well as microbiological sampling from any other site relevant to that case which may be cause for infection.
102
A 5 year old boy is brought to the GP by his mother.
He has been feeling generally unwell over the last 2 days with lethargy, headache, sore throat, runny nose and fever.
He was previously well and is up to date with all scheduled immunisations.
He has developed an erythematous rash on his torso and both cheeks, which blanches under pressure.
His tongue and buccal mucosa appear normal.
**What is the most likely cause of his symptoms?**
Slapped cheek syndrome.
This boy presents with features in keeping with slapped cheek syndrome, a virus caused by parvovirus B19.
103
A 3 day old girl is brought into the GP practice by her mother who is worried about her vomiting which has been ongoing since she was born.
The mother reports that the vomit is often stained and yellow in appearance but she has not noticed any blood.
On further questioning she reports that she has not noticed her daughter having passed any stool since they left the hospital but she did have a bowel movement whilst there.
On examination you notice that the girl has single palmar crease on both hands and there is evidence of brachycephaly with a flat occiput.
Her abdomen also appears quite sunken.
An abdominal X-ray is reported as showing a 'double bubble' sign.
**Give the likely diagnosis**
**What would be the most suitable next step in the definitive treatment?**
**Duodenoduodenostomy**
Duodenal atresia typically presents with vomiting in the first week of life which has been ongoing since birth.
The absence of passing stool is also typical of duodenal atresia.
Duodenoduodenostomy is the definitive corrective treatment in duodenal atresia.
The surgery may be completed laparoscopically or via an open procedure.
104
A 3 year old girl is brought to the GP by her mother. She has had a cold for the last few days, but now developed a rash on her chin.
It blanches under pressure, but her mother remains worried about the cause.
She was previously well and is up to date with all scheduled immunisations.
On examination the girl has a fever of 38.5 degrees Celsius, with a maculopapular rash around her mouth, ulcerations on her tongue and blisters on the palms of her hands and the soles of her feet.
There are no signs of excoriation.
**Which of the following options is the most likely pathogen responsible for her symptoms?**
Coxsackie virus A16.
This girl presents with features in keeping with hand, foot and mouth disease, most commonly caused by enteroviruses such as Coxsackie virus A16.
105
A 9-month-old boy is referred to the paediatric neurodevelopmental clinic. His parents are concerned that he is no longer meeting his developmental milestones and has started to exhibit abnormal repetitive movements.
On further questioning, his parents report that four weeks ago he stopped smiling and vocalising, and is no longer able to sit upright.
Around the same time, he started to have clusters of spasms were he would bring his arms in front of his body and flex his neck.
On examination, five patches of **hypopigmentation** on his abdomen and a **leathery plaque** at the base of his spine is noted.
**What is the most likely underlying diagnosis?**
**Tuberous sclerosis**
* The ash leaf macules (hypopigmentation) and shagreen patch (leathery plaque) are common cutaneous features of tuberous sclerosis.
* The abnormal repetitive movements are suggestive of infantile spasms, another feature of tuberous sclerosis complex.
106
A mother brings in her daughter to the GP for her 6 week check.
She was born at term by spontaneous vaginal delivery, and the mother reports she is breastfeeding well and has no concerns.
The mother has a past medical history of depression, and took **Sertraline** during the pregnancy.
On auscultation of the chest, a **pan-systolic murmur** is heard, which does not change when the baby's position is altered.
There are no other physical abnormalities on examination.
**What is the most likely underlying cause of this murmur?**
**Ventricular septal defect**
Ventricular septal defects (VSD) are the most common congenital cardiac abnormality, and occur when the septum that divides the two ventricles fails to completely close.
They present with a pan-systolic murmur, and while the majority are asymptomatic, larger VSDs can result in shortness of breath on exertion (such as during breastfeeding).
The majority of VSDs self-resolve, so infants can be managed conservatively.
107
A 3 year old boy is brought to the GP with a one day history of an itchy rash and fever.
The rash started with red raised spots on his face that spread to his chest and then all over his body, before forming little blisters filled with clear fluid.
On examination, the child appears miserable and itchy but has no respiratory distress.
He had a temperature of 38.4. Dermatological exam shows diffuse scattered blisters, some with an overlying crust, across the whole body.
**Which virus is responsible for the development of this rash?**
Human herpes virus 3
This child with an itchy rash starting as red macules that develop into vesicles (small blisters) and fever is suspicious for chicken pox.
Chickenpox is caused by varicella virus, also known as human herpes virus 3.
