Day 13 Flashcards
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?
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.
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?
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.
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?
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.
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?
Immediate antibiotic prescription
Children with acute otitis media presenting with otorrhoea are more likely to benefit from oral antibiotics.
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?
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.
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?
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.
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?
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.
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?
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.
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?
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.
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?
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.
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?
Chorionic villus sampling
Before 15 weeks, chronic villus sampling is the procedure of choice for obtaining a sample of foetal DNA.
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?
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.
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?
Supportive treatment.
This boy presents with features in keeping with measles infection, which is self-limiting.
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?
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.
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?
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.
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?
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.
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)
- 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.
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)?
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.
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?
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.
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?
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.
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?
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.
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?
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.
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?
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.
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?
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 infection.
Parvovirus B19 infection during the first 20 weeks of pregnancy can cause hydrops fetalis.
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.
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.
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.
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.
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.
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.
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.
A two year old boy presents with abdominal pain and rectal bleeding.
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.
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.
