Day 11 Flashcards
(103 cards)
1
Q
A 1-week-old infant is referred following episodes of vomiting, feeding intolerance , and abdominal distension.
Examination reveals watery stools with specks of blood present within the nappy.
An abdominal X-ray is requested which reveals gas cysts in the bowel wall.
What is the most likely diagnosis?
A
The correct answer is necrotizing enterocolitis due to the symptoms and the abdominal x-ray revealing gas cysts in the bowel wall.
Even though Intussusception presents with vomiting and abdominal distention, red currant jelly stools are often used to describe the nature of rectal bleeding. The condition is unlikely at 1 week and more common between 3-12 months. An abdominal x-ray would reveal intestinal obstruction rather than gas cysts. Intestinal malrotation often presents with bilious vomiting rather than just normal vomiting, and blood stained diarrhoea. Hirschsprung’s is usually noticed in the first 24-48 hours when meconium fails to pass. Vomiting and passage of liquid stools (not diarrhoea) are present however blood stained diarrhoea is not seen. An x-ray would reveal an air-fluid level. Bowel perforation would show as air underneath the diaphragms on an abdominal x-ray (pneumoperitoneum)
2
Q
A newborn baby boy presents with mild abdominal distension and failure to pass meconium after 24 hours.
X- Ray reveals dilated loops of bowel with fluid levels. The anus appears normally located.
What is the diagnosis?
A
Hirschsprungs disease
Hirschsprung’s disease is an absence of ganglion cells in the neural plexus of the intestinal wall.
It is more common in boys than girls. The delayed passage of meconium together with distension of abdomen is the usual clinical presentation.
A plain abdominal x ray will demonstrate dilated loops of bowel with fluid levels and a barium enema can be helpful when it demonstrates a cone with dilated ganglionic proximal colon and the distal aganglionic bowel failing to distend.
3
Q
A premature infant (30-week gestation) presents with distended and tense abdomen. She is passing blood and mucus per rectum, and she is also manifesting signs of sepsis.
What is the diagnosis?
A
Necrotising enterocolitis
Necrotising enterocolitis is more common in premature infants. Mesenteric ischemia causes bacterial invasion of the mucosa leading to sepsis. Terminal ileum, caecum and the distal colon are commonly affected. The abdomen is distended and tense, and the infant passes blood and mucus per rectum. X -Ray of the abdomen shows distended loops of intestine and gas bubbles may be seen in the bowel wall.
4
Q
A newborn baby boy presents with gross abdominal distension. He is diagnosed with cystic fibrosis and his abdominal x ray shows distended coils of small bowel, but no fluid levels.
What is the diagnosis?
A
Meconium ileus
One in 15,000 newborns will have a distal small bowel obstruction secondary to abnormal bulky and viscid meconium. Ninety percent of these infants will have cystic fibrosis and the abnormal meconium is the result of deficient intestinal secretions. This condition presents during the first days of life with gross abdominal distension and bilious vomiting. x Ray of the abdomen shows distended coils of bowel and typical mottled ground glass appearance. Fluid levels are scarce as the meconium is viscid.
5
Q
A 15-year-old female visits her GP because she is feeling increasingly tired and losing weight. She has also been urinating more frequently and feeling extremely thirsty. Random plasma glucose is found to be 15 mmol/litre.
The patient has an underlying condition diagnosed from childhood, which has caused the development of these symptoms.
What is most likely to be the underlying condition?
A
Cystic fibrosis can cause diabetes mellitus
This presentation is a classic description of the onset of diabetes in a young person, and is confirmed by the random blood glucose >11mmol/L.
Cystic fibrosis presents in childhood with respiratory symptoms, but as the disease progresses, further features begin to develop. If the pancreas becomes affected, then diabetes mellitus can develop.
6
Q
A paediatrician reviews a neonate with their mother on the ward round.
The neonate is 19-hours-old and there are currently no concerns.
Whilst on the ward round, the mother expresses concern with the child’s hearing, as her mother was deaf.
She worries that her child will also have issues hearing.
What screening tool is most appropriate to consider for this patient?
A
Otoacoustic emission test is used to screen newborns for hearing problems
The otoacoustic emission test is one used is new-born screening. It is routine in the UK and if a newborn fails this test, they are then referred to have impedance audiometry testing. This is routine for all newborns.
7
Q
What is the first line hearing test for for newborns?
If the newborn fails this test, what next?
A
The otoacoustic emission test is one used is new-born screening. It is routine in the UK and if a newborn fails this test, they are then referred to have impedance audiometry testing. This is routine for all newborns.
Impedance audiometry testing is only carried out if someone failed the otoacoustic emission test.
8
Q
A 15-year-old girl presents to her GP with a 2-month history of bilateral knee pain, felt worst in the mornings. She has also been experiencing general fatigue but has had no fevers, weight loss, or rashes.
Her family history is notable only for her mother who has systemic lupus erythematosus (SLE).
On examination, her vital signs are normal. There is mild knee and ankle oedema bilaterally and tenderness on passive movement of the knee joints.
What is the most likely diagnosis?
A
Pauciarticular JIA is the most common presentation type and is typically mild
Oligoarticular (or pauciarticular) juvenile idiopathic arthritis (JIA) is the most common presentation of JIA and is defined as affecting up to four joints.
Typically this involves larger joints such as the knee, ankle or elbows.
Common symptoms include pain or stiffness in the affected joints and fatigue.
Associated symptoms may include rash, fever, dry or gritty eyes.
Family history for autoimmune disease (systemic lupus erythematosus in this case) is a risk factor for JIA.
Pauciarticular (paw-see-are-tick-you-lar) means that 4 or fewer joints are affected
9
Q
What is Osgood-Schlatter disease?
(4)
A
Osgood-Schlatter disease is an inflammation of the growth plate (apophysitis) at the tibial tubercle secondary to traction from the quadriceps.
It typically occurs in the rapidly-growing adolescent who is involved in sports/athletics.
It can involve both tibia, although the presentation is typically unilateral.
Worse on exercise and not associated with knee effusions.
10
Q
You are an FY1 on the paediatric ward round with your consultant. Whilst seeing a child that has been admitted with croup, the consultant you’re with decides to quiz you on the pathophysiology.
‘What is the most likely organism to cause croup?’
A
Parainfluenza virus accounts for the majority of cases of croup
11
Q
Match the disease to the organism
- *Parainfluenza** virus :
- *RSV** :
- *Pseudomonas** aeruginosa :
- *Streptococcus** pneumoniae :
- *Bordetella** pertussis :
A
Match the disease to the organism
- *Parainfluenza** virus : Croup
- *RSV** : Bronchiolitis
- *Pseudomonas** aeruginosa : pseudomonas
- *Streptococcus** pneumoniae : Pneumonia
- *Bordetella** pertussis : Whooping cough
12
Q
You are asked to see a baby on the post-natal ward 10 hours post vaginal delivery.
The midwife informs you that the mother was positive for group B streptococcus.
On examination you note a yellow discolouration to the skin.
What is the next most appropriate action to take?
A
As this baby is less than 24 hours old they are high risk for developing severe hyperbilirubinaemia and must have their serum bilirubin urgently (within 2 hours).
As this baby is less than 24 hours old the use of a transcutaneous bilirubinometer is inappropriate.
Phototherapy is a treatment option for jaundice, but a serum bilirubin should be measured in case it is beyond the threshold for exchange transfusion.
13
Q
A baby is delivered on the ward and on the neonatal examination a systolic heart murmur is heard.
An echocardiogram shows right atrial hypertrophy and the septal and posterior leaflet of the tricuspid valve attached to the right ventricle.
What is this condition most commonly known as?
A
The correct answer is Ebstein’s anomaly which is a congenital condition where the tricuspid valve leaflets are attached to the walls and septum of the right ventricle.
This may lead to tricuspid regurgitation and in 50% of patients Wolff-Parkinson-White syndrome is seen, which is a pre-excitation syndrome caused by an accessory electrical pathway between the atria and the ventricles which may lead to an irregular heart rate.
A risk factor for developing Ebstein’s anomaly is the mother taking lithium during the first trimester of pregnancy.
14
Q
The mother of a 4-year-old boy comes to surgery as she is concerned he is still wetting the bed at night. This is in contrast to his older brother who was dry at night by the age of 3 years. She is wondering if there is any treatment you can offer. What is the most appropriate management?
A
Children under the age of 5 years who have nocturnal enuresis can be managed with reassurance and advice - no alarm
15
Q
A 6-year-old boy is reviewed in clinic due to nocturnal enuresis. His mother has tried using a star-chart but unfortunately this has not resulted in any significant improvement. Of the following options, what is the most appropriate initial management strategy?
A
An enuresis alarm is generally used first-line for nocturnal enuresis if general advice has not helped if the child is older than 5 years.
16
Q
A 14-month-old girl is diagnosed as having roseola infantum. What is the most common complication of this disease?
A
Roseola infantum - febrile convulsions occur in around 10-15%
17
Q
Maisy a 2-year-old girl and her mother attend a paediatric neurology clinic. Maisy’s mother is concerned she has epilepsy but is reassured by the consultant who explains that Maisy has been having reflex anoxic seizures.
Which of the following features may differentiate between epilepsy and Maisy’s diagnosis?
A
Reflex anoxic seizures have a rapid recovery unlike epileptic seizures
Collapse, jerking, stiffness and cyanosis can all occur in both epilepsy and reflex anoxic seizures. Reflex anoxic seizures typically have a quick recovery, where as epileptic seizures typically have a prolonged recovery.
18
Q
What are reflex anoxic seizures?
(3)
A
Reflex anoxic seizure describes a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli.
It is thought to be caused by neurally-mediated transient asystole in children with very sensitive vagal cardiac reflexes.
It typically occurs in young children aged 6 months to 3 years
19
Q
Reflex anoxic seizures typical features (4)
A
child goes very pale
falls to floor
secondary anoxic seizures are common
rapid recovery
20
Q
A 2-year-old boy attends the paediatric emergency department, brought in by his mother.
For the last 6 hours he has been very upset. Every 20 minutes he seems to scream out, and his mother thinks he is in pain. He has vomited twice over the same period, and his mother noticed a red jelly-like substance in his nappy 2 hours ago.
The young boy is extremely resistant to examination, and will not let anybody touch his abdomen. His observations reveal a mild tachycardia, but there is no fever.
What is the most appropriate investigation to clarify the diagnosis?
A
Ultrasound is the investigation of choice for intussusception
21
Q
A 23-year-old woman with cystic fibrosis attends a review with her respiratory specialist. She has been having much more frequent infections and is wondering if there is anything else that she can do to ensure she reduces her risks of getting any more chest infections.
What is the most appropriate response?
A
Patients with cystic fibrosis should minimise contact with each other due to the risk of cross-infection
22
Q
You are called to assist in the resuscitation of a neonate who has just been born at 38 +6 weeks but is showing signs of respiratory distress. On auscultation of the precordium you note the heart sounds are absent on the left hand side but can hear tinkling sounds. The infant is also cyanosed.
What is the best initial management?
What is the diagnosis?
A
Evidence of bowel sounds in a respiratory exam of a neonate in respiratory distress should make you consider a diaphragmatic hernia
23
Q
A 14-year-old boy presents to the emergency department with a headache. On further questioning, he complains that the lights are hurting his eyes and on examination, the doctor notices a purpuric rash on his chest. He has a respiratory rate of 22/min, a heart rate of 140/min and a blood pressure of 80/60 mmHg
Which of the following tests should not be ordered in this patient?
A
Meningococcal septicaemia is a contraindication to a lumbar puncture
This patient has presented with clear symptoms and signs of meningitis while his observations show that he is also septic. One of the contraindications of a lumbar puncture is meningococcal septicaemia
Raised ICP places patients at a dramatically increased risk for herniation if an LP is performed.
24
Q
A 7-year-old boy presents to the GP as he does not seem to be developing in the same way as his classmates.
He is now a lot taller than most of his friends and he has started to develop hair around his genitalia and armpits.
On examination, his penis is also large for his age however his testes remain prepubertal, with a size of 2.4cm.
Which of the following is the most likely cause of this boy’s precocious puberty?
A
Small testes in precocious puberty indicate an adrenal cause of the symptoms
Testes
- bilateral enlargement = gonadotrophin release from intracranial lesion
- unilateral enlargement = gonadal tumour
- small testes = adrenal cause (tumour or adrenal hyperplasia)
25
A 10-year-old boy presents with symptoms of right knee pain. The pain has been present on most occasions for the past three months and the pain typically lasts for several hours at a time. On examination; he walks with an antalgic gait and has apparent right leg shortening. What is the most likely diagnosis?
Perthes Disease
Perthes' disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction.
26
A 3-year-old girl is brought to the GP by a worried mother as her child has had a temperature for 72 hours and has now started to develop a rash on her torso and face. She describes the rash as forming in clusters.
The girl is not eating much but is drinking well and has no changes to her urinary or bowel movements. She has no significant medical history and her immunisations are up to date. No-one else in the family has been unwell recently but the mum does inform you that her daughter has recently started attending nursery and a few of the other children have had a similar rash.
On examination: temperature 38.8ºC, scabbed lesions on the left cheek, erythematous vesicles on the trunk.
What is the most appropriate management of this child?
Topical calamine lotion
Chickenpox has a prodrome of raised temperature before the rash begins on the torso and face
There is a classic description of increased temperature for 2 days before developing clusters of erythematous vesicles predominantly affecting the torso and face.
27
You are asked to speak to a family who have just received a diagnosis of pulmonary hypoplasia on fetal MRI.
Which conditions are the most common cause of pulmonary hypoplasia?
Pulmonary hypoplasia in CDH occurs alongside the hernial development rather than as a direct result of it, as part of a sequence
Infants with congenital diaphragmatic hernia (CDH) have associated pulmonary hypoplasia. This is not necessarily due to direct compression of the lung by herniated viscera but rather occurs as part of a sequence alongside the hernial development.
Oligohydramnios, rather than polyhydramnios, leads to pulmonary hypoplasia. It is believed that oligohydramnios decreases the size of the intrathoracic cavity, thus preventing foetal lung growth.
28
A mother notices that her newborn boy has small eye openings, a small body and low-set ears. On examination the paediatrician also notes a flat philtrum, a sunken nasal bridge, short palpebral fissures and a thin upper lip. What is the most likely cause?
Fetal alcohol syndrome
## Footnote
**Maternal alcohol abuse during pregnancy.**
**Presentation**:
IUGR
microcephaly
midfacial hypoplasia
micrognathia
smooth philtrum
microphthalmia
short palpebral fissures
thin upper lip
irritability
ADHD
29
Congenital diaphragmatic hernia
Evidence of bowel sounds in a respiratory exam of a neonate in respiratory distress should make you consider a diaphragmatic hernia
The most likely cause of this newborn's symptoms is a congenital diaphragmatic hernia. It is an important cause of respiratory distress in the newborn and is not always picked up prenatally. The main clue in this case is the presence of bowel sounds within the respiratory examination.
30
A two-day-old baby who has not passed meconium now has a distended abdomen and is vomiting green bile.
It is suspected that he may have a congenital condition affecting the rectum. Which of the following tests is diagnostic?
Rectal biopsy
This baby has Hirschsprung's disease, a congenital abnormality causing the absence of ganglionic cells in the myenteric and submucosal plexuses.
The condition occurs in 1/5000 births.
Symptoms include delayed passage of meconium (\> 2 days after birth), abdominal distension and bilious vomiting.
Treatment is usually with rectal washouts initially, followed by an anorectal 'pull-through procedure'.
This involves removing the affected section of bowel and forming an anastomosis with the healthy colon.
31
Continue monitoring glucose and encourage normal feeding
Neonatal hypoglycaemia: if asymptomatic then encourage normal feeds and monitor glucose
The mother being diabetic predisposes the neonate to hypoglycaemia, as is the case here, but if asymptomatic and not strikingly low, the usual course of action is to continue monitoring blood glucose and encourage normal feeding.
32
A 1-year-old girl is noted to have a continuous murmur, loudest at the left sternal edge.
She is not cyanosed.
What is the most likely diagnosis?
What pulse abnormality is most associated with this condition?
Patent ductus arteriosus - large volume, bounding, collapsing pulse
33
A baby is delivered on the ward and on the neonatal examination a systolic heart murmur is heard. An echocardiogram shows right atrial hypertrophy and the septal and posterior leaflet of the tricuspid valve attached to the right ventricle. What is this condition most commonly known as?
Ebstein's anomaly which is a congenital condition where the tricuspid valve leaflets are attached to the walls and septum of the right ventricle.
34
At what age would the average child start to say 'mama' and 'dada'?
and understand "no"
9 months
35
A 4-year-old boy is brought to the emergency department by his mother. The mother appears reluctant for her child to be examined, and concedes she does not trust modern medicine. Her child has not received any of his routine immunisations. She tells you her son was mildly unwell with coryzal symptoms and a mild cough last week, however he has deteriorated in the past 11 days. His cough has worsened to the point he now has intractable coughing spells, which have been so severe on occasion that 'his lips have gone blue' and he has had to vomit. His symptoms are especially bad at night.
You recognise that antibiotic therapy will be required in this patient, and consent the mother for her son to receive an appropriate antibiotic to help with his symptoms.
Given the most likely diagnosis, which class of antibiotics is most appropriate to prescribe?
Whooping cough - azithromycin or clarithromycin if the onset of cough is within the previous 21 days
36
Which conditions are likely to result if a fetus is homozygous for alpha-thalassaemia?
| (3)
**Clinical severity depends on the number of alpha globulin alleles affected:**
## Footnote
If 1 or 2 alpha globulin alleles are affected then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal
If are 3 alpha globulin alleles are affected results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease
If all 4 alpha globulin alleles are affected (i.e. homozygote) then death in utero (hydrops fetalis, Bart's hydrops)
37
A 5-year-old boy from a travelling community presents to the Emergency Department with breathing difficulties. On examination he has a temperature of 38.2ºC, stridor and a toxic looking appearance. A diagnosis of acute epiglottitis is suspected. Which one of the following organisms is most likely to be responsible?
Acute epiglottitis is caused by Haemophilus influenzae type B
38
Where are the mutations responsible for alpha thalassemia?
2 separate alpha-globulin genes are located on each chromosome 16
39
A concerned mother brings her 6-week old baby to your GP practice for their routine postnatal baby check. She is worried about his noisy breathing, which she reports has been worsening over the past few weeks. This baby was born at term with no complications. On examination, you hear an inspiratory stridor but no other abnormal lung sounds. Heart sounds are normal. Baby is alert and playful. There is no suggestion of any cyanosis. Baby has been growing and feeding normally. What is the most likely diagnosis?
Laryngomalacia is a very common, benign cause of noisy breathing in infants
Laryngomalacia should be suspected in an otherwise well infant with noisy breathing. It is caused by a congenital softening of the cartilage of the larynx, causing collapse during inspiration. Laryngomalacia can present at birth, and worsens in the first few weeks of life. It usually self-resolves before 2 years of age.
40
Which condition is most strongly associated with supravalvular aortic stenosis?
A boy with learning difficulties is noted to be extremely friendly and extroverted. He has short for his age and has supravalvular aortic stenosis - William's syndrome
41
A 10-hour-old neonate is reviewed on the neonatal unit, following an uncomplicated vaginal delivery at 34 weeks' gestation. His mother reports no concerns so far.
On examination, he appears well at rest. A left subclavicular thrill is noted, and on auscultation, a continuous 'machinery-like' murmur is heard. He has a large-volume collapsing pulse.
Given the likely diagnosis, an echocardiogram is performed, which demonstrates the defect in question, but no other abnormalities.
What is the most appropriate management at this stage?
Patent ductus arteriosus: indomethacin is given to the neonate in the postnatal period, not to the mother in the antenatal period
42
**Clinical features of transposition of great arteries** (5)
**Anatomy of transposition of great arteries** (2)
**Clinical features of transposition of great arteries** (5)
## Footnote
cyanosis
tachypnoea
loud single S2
prominent right ventricular impulse
'egg-on-side' appearance on chest x-ray
**Anatomy of transposition of great arteries** (2)
aorta leaves the right ventricle
pulmonary trunk leaves the left ventricle
43
A 6-week old baby has been brought in to the hospital. Her Dad is worried because she has had problems retaining feeds. He says that soon after being fed she vomits up uncurdled milk quite forcefully. He is worried because she does not appear to be gaining weight. Given the likely diagnosis, which metabolic abnormality would the patient most likely present with?
Non-bilious vomiting in first few weeks of life is consistent with pyloric stenosis
The most likely diagnosis here is pyloric stenosis. Due to vomiting up stomach contents which is acidic (hydrogen chloride - HCl), the patient will be hypochloraemic. Potassium is also lost in the vomitus.
The loss of hydrogen ions due to the vomiting up of stomach acid is the cause of the metabolic alkalosis.
44
A neonate is admitted to the neonatal intensive care unit with low Apgar scores at birth. On examination he is noted to have a micrognathia, low set ears, overlapping fingers and rocker-bottom feet.
Which of the following is the most likely diagnosis?
A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - **Edward's** **syndrome**
45
A 1-week-old boy has his hearing checked through the Newborn Hearing Screening program. He had a complicated delivery via caesarean section due to foetal distress at 35 weeks. He required a short stay in the neonatal intensive care unit and was discharged well and thriving a few days later.
The hearing screening was abnormal and you are sent a letter saying the patient requires a follow-up test to confirm.
What is the follow-up test in this situation?
Auditory brainstem response test
If a newborn baby has an abnormal hearing test at birth they are offered the **auditory brainstem response test**
46
A 3.2kg baby boy was born yesterday at 38 weeks without complications during delivery to a 28 year old mother of South-East Asian descent.
The midwife was worried about a number of **non-blanching nodules** which are purple in colour and a number of visible petechiae so has called for an urgent paediatric review.
On examination hepatosplenomegaly and a heart murmur best auscultated in the left infraclavicular area are noted.
A cataract is also noted in the left eye.
**The** baby's mother admits she doesn't know about her vaccination history as she moved to the UK when she was 22 and hasn't attended much of her antenatal care during the pregnancy.
**What is the most likely cause of this newborns presentation?**
Rubella virus
This baby is suffering from **congenital rubella syndrome** a complication of maternal rubella virus infection during pregnancy.
47
A 15-year-old female presents to ENT clinic with recurrent ear infections.
On inspection, she has an **oval shaped face**, epicanthal folds and a single palmar crease.
Her past medical history includes hypothyroidism, type 2 diabetes mellitus, structural heart disease and moderate learning disability.
**Give the underlying congenital syndrome.**
**Which ENT manifestations would you expect in this patient?**
Flat nasal bridge
This patient has Down's syndrome, a genetic syndrome caused by trisomy 21.
**ENT manifestations in Down's syndrome include:**
* Flat nasal bridge
* small nose with a flat nasal bridge
* small and low set ears
* hearing issues and ear infections
* hypothyroidism
48
An six year old boy presents to ED with a **limp and pain in his right hip.**
This has been going on for months but **worsened in the last few days**. Otherwise he is well.
His mother reports that he is usually very active.
He has not been unwell recently and there is no history of trauma.
The past medical history is unremarkable.
Examination reveals pain on passive movement of the hip, and observations and bloods are normal.
**What is the most likely diagnosis?**
**Perthes disease**
Perthes disease is the **idiopathic avascular necrosis of the femoral epiphysis.**
* It typically presents in boys aged 5 - 6 years.
There is atraumatic hip pain and a limp.
Treatment depends on the degree of joint destruction, and ranges from symptom control and bracing to surgical correction.
**_SUFE typically presents later than Perthes in taller or obese adolescents._**
49
A 3-year-old girl is admitted to the General Paediatric ward after being diagnosed with pneumonia.
She has been admitted to hospital three times since birth for similar chest infections, each time requiring intravenous antibiotics and oxygen therapy.
Her parents also report that over the last 6 months she has been passing large quantities of pale, smelly stools.
On examination, she looks very pale and miserable.
Clubbing of the fingers is noted, and auscultation reveals coarse crackles and bronchial breathing in the right base.
Abdominal examination is unremarkable.
Her height is measured in the 10th centile and weight in the 5th centile.
**Which of the following is the most likely underlying diagnosis?**
Cystic Fibrosis
This is the correct answer. The combination of clubbing, steatorrhoea and recurrent chest infections makes cystic fibrosis the most likely diagnosis.
50
A mother attends the emergency department with a 26-day old boy.
The boy is breastfed, but shows poor weight gain.
He is **jaundiced** and **lethargic**, and is passing **dark** **urine** and **pale** **stool**.
**What is the most likely diagnosis?**
**Biliary atresia**
This causes **conjugated** **hyperbilirubinaemia**, resulting in dark urine and pale stools.
Early diagnosis and surgical intervention prevents progression to liver failure.
51
A **14-year-old boy** presents to the GP with a **one-month history of a limp.**
He complains of **gradual-onset right knee pain** over this time, and does not recall any recent trauma.
The left leg is not affected and he is otherwise well.
On examination, there is **loss of internal rotation of the right leg**.
There are no other abnormalities on examination.
His notes document height in the 55th percentile and weight in the 92nd percentile.
**Which of the following is the most likely diagnosis?**
**Slipped upper femoral epiphysis (SUFE)**
SUFE results from a weakness in the proximal femoral growth plate, which is often due to obesity, a major risk factor for the condition.
It is the commonest cause of a limp in adolescents, and usually presents with knee pain and a loss of internal rotation in the affected leg.
52
A **21-day old baby** presents with **jaundice**.
He was full-term, normal birth weight and appeared well until recently.
Blood results show a **conjugated hyperbilirubinaemia**.
**What is the most likely diagnosis?**
**Biliary atresia**
This neonate is jaundiced with a conjugated hyperbilirubinaemia.
* Cystic fibrosis (CF) may also cause these two in conjunction but would likely represent with weight loss or failure to thrive and/or other ciliary disorder symptoms.
Biliary atresia is therefore the correct answer. Incidence is approximately 1 in 10 000 and may be associated with other congenital malformations such as intestinal atresia and imperforate anus.
**It is surgically treated with the Kasai procedure.** Many will also go on to require a liver transplant.
53
How is biliary atresia treated?
It is surgically treated with the Kasai procedure.
54
**An eight month old** child presents to ED with **bilious** **vomiting** and **constipation** for two days.
The child is **listless** and **dehydrated**.
On examination the abdomen is distended but is soft.
**Malrotation** with small bowel obstruction, is suspected.
This is confirmed with an oral contrast study.
**What is the definitive management of this condition?**
**Ladd's operation**
This patient has midgut volvulus and needs a Ladd's operation for definitive management.
This is performed, either open or laparoscopically, by untwisting the midgut volvulus, fixing the malrotated bowel in the correct location, removing Ladd's bands (congenital adhesions) and performing an appendicectomy.
55
You are an FY2 doing newborn screening checks on the post-natal ward.
You examine a **6 hour old baby boy,** born at 40 weeks gestation by spontaneous vaginal delivery.
On inspection, he appears pink in air and is moving all 4 limbs spontaneously.
On examination, the fontanelles are soft, the red reflex is present bilaterally.
**There is a 2/6 systolic murmur heard loudest at the lower left sternal edge.**
The chest sounds clear to auscultation.
The abdomen is soft, the femoral pulses are present, and the male external genitalia appear normal.
Two testes are palpable in the scrotum.
There is no clunk felt on examination of the hips.
**As well as informing a senior, what is the most appropriate step in management of this patient?**
**Review in 24 hours**
This newborn baby has a **small murmur present at less than 24 hours of age**, with an otherwise normal newborn screening examination.
As the **fetal circulation undergoes significant changes within the first few hours of life**, murmurs are very common as the circulation reverses.
If the baby is otherwise well with no cyanosis, murmurs should be reassessed at \>24 hours of life, which, if still present, should be investigated further.
56
A one-year old **Japanese boy** presents to ED.
He has had a **high fever for five days** and is extremely **irritable**.
The mother is worried, and had taken him to see his GP two days ago, who diagnosed a viral illness.
Since then his **eyes had become red, his lips have become cracked and red, and he has developed widespread lymphadenopathy.**
He is admitted and rehydrated, and a septic screen is started.
**Give the likely diagnosis.**
**Which treatment should be initiated to prevent serious complications?**
**What is the most risky complication?**
**Intravenous immunoglobin and high dose aspirin**
**This clinical picture is typical of Kawasaki disease.**
There is a risk of developing **coronary artery aneurysms** and a mortality of 1 - 2%.
Starting IV Ig and high dose aspirin within 10 days lowers the risk of developing these complications.
57
A **6 year old girl** is brought into GP by her concerned parents.
She has been feeling **very hot** and unwell for the **past 3 weeks** and has been off school for the previous week.
Her mum didn't want to bring her in but has become worried as she noticed **her daughter's gums have started bleeding.**
She has not past medical or family history of note and does not take any regular medications.
On examination she seems very tired and there are numerous bruises on her lower legs.
**Tender cervical lymphadenopathy** is noted on palpation.
**What would be the most appropriate next step in her management?**
**What is the possible diagnosis?**
**Urgent referral to the local hospital**
As a GP you would be very worried that this child has presented with a possible **lymphoma or leukaemia.**
Therefore, it would be the best practice to provide her with an urgent referral to the local paediatrics department calling ahead to make the on-call doctor aware of the patient.
58
A 1 year old boy is brought in to A/E by his parents as they are concerned about his breathing.
They describe a barking, seal-like cough which is worse at night. He is not drooling and there is no stridor.
He has a low-grade fever and is active and alert.
He has no tenderness or pain on swallowing.
He responds to a dose (0.15mg/kg) of oral dexamethasone and humidified oxygen.
**What is the diagnosis?**
**What is the most likely pathogen?**
**Parainfluenza virus**
This is the pathogen underlying **croup**.
The classic presentation is of a barking seal-like cough.
59
A **4 year old girl** is brought in to see her GP due to persistent ear pain for the past 2 days which has disrupted her sleep and normal routine.
She is very tearful.
Her mother reports that she is otherwise doing well at home and in nursery.
On examination the GP is able to visualise her **tympanic membrane well and notes that it appears very red and inflamed.**
Her mother reports that this is the **6th or 7th time this has happened i**n the past year.
The girl is of notable **short stature** yet her mother appears of normal height.
On further review of the red book the GP can see that at birth she was a normal weight and height but her height has now fallen down to the 3rd centile.
On further examination the GP notes she has **spoon shaped nails**.
**Given her presentation what is the most probable genetic diagnosis?**
**Turner syndrome 45 X0**
This presentation contains some of the classic signs of Turner syndrome **(recurrent otitis media)** which is most commonly of the **46X0 karyotype.**
**Short stature is a cardinal feature of turner syndrome** and may be the only presenting feature in young children.
**Spoon shaped hyper convex nails** are commonly seen in children with Turner's due to **lymphoedema**.
60
A 14 year old boy of **afro-caribbean descent** presents to PAU having felt very tired and lethargic for the past couple of days.
This is very unusual for him.
He is noted to have **conjunctival pallor, tachypnoea and tachycardia.**
His blood pressure and capillary refill time appear normal.
On examination his abdomen is soft and non-tender with no organomegaly noted.
He is afebrile but reports he did have a fever last week.
He doesn't report any pain.
**Give the most likely diagnosis**
**Which complication is he most likely to be suffering from?**
**Sickle Cell Disease**
**Aplastic crisis**
An aplastic crisis (reticulocytes \<1%) is also known as transient red cell aplasia or reticulocytopaenia.
**Aplastic crisis in Sickle Cell Disease** is characterised by the combination of tachypnoea, tachycardia in the absence of splenomegaly.
Given the absence of pain, jaundice, fever, pain and splenomegaly this is the most likely complication.
61
A **19 year old girl** presents to the GP surgery with a sore throat.
This has been ongoing for 3 weeks and has not improved with a course of amoxicillin, in fact the amoxicillin made her feel sick and she developed a **widespread maculopapular rash.**
She is able to eat and drink but has continued to have temperatures.
She is concerned as she has just started university but is too tired to go out with her friends.
On examination, **T37.7**, HR82, throat appears red but there is no pus around the tonsils.
There is bilateral tender cervical lymphadenopathy.
**What is the most likely diagnosis?**
**Glandular Fever**
The combination of;
* sore throat
* swollen glands
* a maculopapular rash
with amoxicillin and fatigue is highly suggestive of glandular fever.
62
A **six year old** boy attends the outpatient psychiatry clinic with his mother after being referred by his school for behavioural problems.
He is described as a poor listener and unable to finish tasks set by his teacher.
He frequently gets in trouble for shouting out and cannot wait his turn during games.
He is popular and kind with the other children, but falls behind in class.
At home, she says he is always ‘on the go’ and 'difficult to control'.
He has never harmed property or another person, but gets himself into dangerous situations by running on the roads.
He has previously broken his collarbone when he fell after climbing on top of the family car.
As a baby, the mother describes him as a happy child who achieved all his milestones on time.
These behaviour problems started approximately nine months ago.
There is no relevant family history.
**Which of the following is the most likely diagnosis?**
**Attention-deficit hyperactivity disorder (ADHD)**
**This child exhibits the classic triad of ADHD:**
* inattention
* hyperactivity
* impulsivity
It is the most common behaviour disorder in childhood, with an interesting prevalence across the world (ranging from 5% in the West to 1% in Eastern populations).
The diagnosis is made by collateral history from parents, schools, doctors, and play therapists.
Symptoms must be present for at least six months and impair function across all domains of life.
63
A junior doctor is asked to review a neonate on the postnatal ward who is suffering from **bilious** **vomiting**.
He was **born 5 hours ago**, at term, and has a diagnosis of Down's syndrome.
An abdominal x-ray shows **two gas bubble**s, one in the stomach and one in the proximal small intestine.
**Which of the following is the most likely diagnosis?**
**Duodenal atresia**
Duodenal atresia is a congenital malformation in which the duodenum does not recanalise and so is not patent.
**This obstruction causes bilious vomiting.**
**Approximately 25% of cases are associated with Down's syndrome (trisomy 21).**
It can be diagnosed with an abdominal x-ray, which shows a characteristic 'double bubble' sign, described above.
Early surgical intervention is required, involving a duodenoduodenostomy.
64
An 8 year old girl presents to the GP with a longstanding history of loose stool.
Her mother reports that she has had loose stools for the last year or so, which smell terrible and are difficult to flush.
She also complains of abdominal pain, particularly after eating sandwiches at lunch.
She also has type 1 diabetes and is managing well with her daily novorapid and lantus insulin injections.
**Her father has a specific food intolerance.**
She is getting on well at school, but is the shortest in her class.
Her mother is worried that she is very skinny.
On examination, the girl appears pale and thin.
There is conjunctival pallor.
**Her abdomen is mildly distended but soft with no organomegaly.**
**What is the likely diagnosis?**
**How can she be managed?**
**Which of the cancer are patients like her at increased risk of, if this patient's condition remains untreated long-term?**
**Lymphoma**
This child with a long-standing history of loose foul-smelling stools, abdominal pain (particularly after eating bread), a background of autoimmune disease (type 1 diabetes) and family history of food intolerance, and signs of anaemia and abdominal distention most likely has a **diagnosis of coeliac disease.**
If not properly managed with a **gluten-free diet long-term,** there is an increased risk of lymphomas (such as EATL - enteropathy associated T-cell lymphoma) and small bowel adenocarcinomas.
65
An **8-month-old girl** is brought into A&E with laboured breathing.
Her parents report that she has been suffering from coryzal symptoms and a fever for the last 3 days, but this morning she developed a persistent dry cough and was unable to tolerate her usual feeds.
She is up to date with all her vaccinations.
On clinical examination, she is febrile with a **temperature of 38.1ºC** and there is notable increased work of breathing, with evidence of tracheal tug and intercostal recession.
On auscultation, a **harsh expiratory wheeze** is audible across the entire chest.
**What is the most likely diagnosis?**
**What is the causative agent?**
**Bronchiolitis**
Bronchiolitis is caused by infection with the **Respiratory Syncytial Virus** and is the most likely cause of respiratory distress in this age group.
It often presents with increased work of breathing, proceeded by a history of coryzal symptoms.
**Wheeze and inspiratory crackles may be heard on auscultation.**
66
A 12 month old boy who is currently receiving chemotherapy for acute **lymphoblastic leukaemia** presents to the GP for routine vaccinations.
The mother reports that the boy is currently well with no fevers or recent infections.
He has no known food or drug allergies.
On examination, the boy is alert, active and appears well.
He has a **Hickman line** which appears in good condition, with no erythema or tenderness.
**Which vaccination is contraindicated in this patient?**
**Measles, Mumps and Rubella (MMR)**
This **12 month old** baby boy who is currently on chemotherapy for acute lymphoblastic leukaemia will be **immunosuppressed**.
**Live attenuated vaccines are contraindicated** in immunosuppressed patients.
Live attenuated vaccinations include the MMR vaccine (measles, mumps and rubella).
67
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
She has **cold hands** and **feet** and a **non-blanching purpuric rash on her left upper thigh.**
**Which of the following clinical syndromes is this girl most at risk of?**
What should the GP do?
**Waterhouse-Friderichsen syndrome.**
**Infection with Neisseria meningitidis** can present either as meningitis (non-specific signs such as lethargy, headache, fever, rigors and vomiting) or meningococcaemia (septicaemia), or a mixture of both, associated with a rapidly **developing purpuric skin rash**.
When this is associated with massive adrenal haemorrhage and septic shock, the presentation is known as Waterhouse-Friderichsen syndrome.
**Her GP should reger her to the nearest hospital.**
68
What is Waterhouse-Friderichsen syndrome?
**failure of the adrenal glands to function normally as a result of bleeding into the gland.**
Meningococcemia is a life-threatening infection that occurs when the bacteria **Neisseria meningitidis** invades the blood stream
* Fever and chills
* Joint and muscle pain
* Headache
* Vomiting
69
The growth chart for head circumference of a 10 month old infant has increased to the 99th percentile from the 75th centile.
His height and his weight remain on the 75th centile.
His hands and feet are proportional to his body.
He has been achieving his milestones with no concerns.
His mother reports that he was born at 32 weeks.
He has been feeding poorly for the last few hours and he has been less active.
He is febrile and has not had any seizures.
His mother does not think that he has had any falls recently.
**What is the most likely diagnosis?**
**Hydrocephalus**
This is an important diagnosis to investigate in **macrocephaly**.
**There can be potentially life-threatening consequences of missing this.**
This is a condition in which there is an a**ccumulation of cerebrospinal fluid in the brain.**
Acute causes include meningitis, traumatic brain injury and haemorrhage (intra-ventricular or sub-arachnoid).
In this case, **meningitis** is hinted at in this question (febrile, poor feeding).
70
A mother brings in her 12-year-old son to paediatric A&E because he has been complaining of a headache since this morning.
He complains that the lights in the hospital are hurting his eyes and says his neck feels stiff.
On examination there is a purpuric rash across the child's chest and torso.
His temperature is 38.0ºC, he has a heart rate of 120/min, a respiratory rate of 26, and a blood pressure of 90/65 mmHg.
**What is the most likely diagnosis?**
Meningococcal septicaemia
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 patient requires urgent intravenous antibiotics.
71
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 is the most likely differential diagnosis?**
**What is the most likely infective agent?**
Meningococcal infection.
Infection with Neisseria meningitidis can present either as meningitis (non-specific signs such as lethargy, headache, fever, rigors and vomiting) or meningococcaemia (septicaemia), or a mixture of both, associated with a rapidly developing purpuric skin rash.
72
An 8-year-old boy is brought in to see the GP by his father.
He was recently diagnosed with asthma and was started on a Salbutamol inhaler, to use when required.
His father says that he is coughing a lot at night and it is keeping him awake.
Respiratory examination shows no abnormalities.
**Which of the following is the best next step in the management of this patient?**
Prescribe an inhaled corticosteroid
According to the British Thoracic Society's 2019 Asthma guidelines, in a child with symptoms more than 3 times a week or night-time waking (as described in this scenario), a low-dose inhaled corticosteroid should be prescribed.
73
Stages in treating asthma in children
| (3)
**Step 1**: Inhaled SABA PRN and consider monitored initiation of very low to low dose ICS (Inhaled corticosteroid)
**Step 2:** Very low dose ICS and consider addition of Leukotriene receptor antagonist (LTRA)
**Step 3:** Consider stopping LTRA and starting combined long acting beta-agonist (LABA) and ICS. If this fails then referral to a specialist is recommended.
**Additional add-on therapies:**
* Consider replacing the combined ICS and LABA with Maintenance and Reliever Therapy (MART) and low dose ICS.
* Consider increasing the ICS dose.
* Consider an additional drug (e.g. theophylline) or oral steroids.
74
**A 15-month old infant is brought into the emergency department by his babysitter as she is worried that he has not been using his right arm.**
She claims he injured his arm when he "fell off his tricycle".
His medical records show that he is behind on his immunisations and GP visits for the past 6 months.
On examination, he cries when his right arm is touched and there is marked tenderness on palpation of the elbow.
There is an area of swelling just above the elbow.
He also has some bruises in his left axilla.
X-ray of his forearm shows a fracture pattern in the humerus that does not correspond to the mechanism of injury.
Non-accidental injury is suspected.
**Which fracture pattern typically occurs due to a twisting force applied on a long bone?**
**Spiral fracture**
Spiral fractures are complete fractures of long bones that result from a rotational force being applied along the axis of a bone while the other extremity is planted.
**Spiral fractures in children are a common sign of physical abuse because they are a result of forceful jerking or twisting of a limb.**
This child would not be able to ride a tricycle at the age of 15 months and it would be unlikely that a spiral fracture occurred as a result of a fall from a tricycle.
This history coupled with bruises in the axilla and non-attendance for GP visits raises suspicion of non-accidental injury.
75
A 3-year-old girl is brought to the GP by her parents. For the past four days she has had a fever, runny nose, cough and non-bloody diarrhoea.
Last night, his parents noticed that she had developed a pink rash on her legs and arms.
She is normally fit and well and is up to date with all her vaccinations.
On examination, a pink lace-like rash is visible on all four of her limbs, along with erythematous patches on her cheeks which feel hot to touch.
Which of the following is the most likely pathogen causing her symptoms?
Parvovirus B19
This child has presented with a prodrome of fever, coryzal symptoms and diarrhoea, followed by the onset of a diffuse 'lace-like' rash across the body and characteristic bright red cheeks.
This presentation makes parvovirus B19, aka slapped-cheek syndrome, the most likely diagnosis.
76
A 14 year old girl is reviewed by the GP due to recurrent ear infections.
Her height is below the 5th centile for her age and she has bilateral ptosis and a webbed neck.
**What is the most likely diagnosis? (1)**
**What is the most common congenital heart defect seen in this underlying condition? (2)**
**Bicuspid aortic valve**
The clinical features point towards a diagnosis of **Turner's** **syndrome**, which is due to a partial or total loss of an X chromosome.
The commonest heart defect is **bicuspid aortic valve** which is usually asymptomatic and **can be associated with co-arctation of the aorta.**
77
**A 14 year old boy presents to the GP because he is short.**
He says he gets bullied at school for being much shorter and smaller than the other kids.
In primary school, he was on the 40th centile for height, but now he is on the 5th centile.
He is otherwise fit and healthy with no medical problems and no medications.
His father hit puberty at around 16.
On examination, the child appears well but short.
His testicles are 3ml volume and he has minimal axillary and pubic hair. His pulse is 80bpm and respiratory rate is 16bpm.
**What is the best investigation to confirm the likely diagnosis?**
**X-ray of the hand and wrist**
This 14 year old with short stature, small testicular volume and minimal axillary and pubic hair has delayed puberty.
The most likely cause for delayed puberty in this case is constitutional delay of growth and puberty, in which children are 'late bloomers' and enter normal puberty later than their peers.
This is confirmed with a hand/wrist x-ray to assess bone age, which will be delayed in constitutional growth delay.
78
A 2 year old girl is brought to A&E at night with a fever and noisy breathing.
Her parents say she has had a **cough** and a **runny** **nose** for the last 2 days.
On examination, there is a **harsh rasping sound on inspiration.**
* respiratory rate is 36
* oxygen saturations are 95%
* temperature is 38.9 degrees
**What is the diagnosis?**
**What pathogen is most commonly responsible for the most likely diagnosis?**
**Parainfluenza**
This 2-year old girl with fever, **coryzal** **symptoms** and **inspiratory** **stridor** (harsh rasping sound) most likely has **croup**. Croup is a very common upper respiratory tract infection in children aged 6 months to 6 years that is caused by **parainfluenza** **virus**.
**Croup** is also the most common cause of stridor, which is a **harsh** **inspiratory** **rasping** sound caused by obstruction at the level of the larynx.
79
An 11 week old baby boy presents to the GP with a very large scrotum.
It has been slightly large since birth, but his mother is worried because it has rapidly enlarged across the last 7 days.
The baby has also been vomiting small volumes of milky liquid over the last 3 days after feeds.
Otherwise, the baby is well.
He is bottle feeding well and has had no fevers or diarrhoea. The rest of systems review is negative.
He was born at 39 weeks via a spontaneous vaginal delivery.
There were no concerns during the pregnancy and antenatal ultrasounds were normal.
On inspection, he is pink, well perfused and has spontaneous vigorous movements.
Heart sounds I and II are present and the chest is clear to auscultation.
The abdomen is soft with no masses.
The scrotum is tense and swollen to approximately 5 cm diameter, most pronounced on the right side.
The left testis is palpable but the right is not.
The whole scrotum glows pink when a light is applied to the base of the scrotum.
**What is the most likely diagnosis?**
**What is the most appropriate investigation?**
**Testicular ultrasound**
This infant with a trans-illuminating scrotal swelling and a non-palpable right testis is very likely to be a **hydrocele**.
The best investigation to confirm this is a testicular ultrasound scan.
The major concern in the differential here is whether this infant has an inguinal hernia, which an ultrasound will also be useful in distinguishing.
**Reassuringly, there are no red flags for a strangulated hernia;** the baby is well, and the vomiting is most consistent with simple reflux (small volume milky vomits after feeds) rather than for obstruction (violent green bilious vomiting).
80
An 11-month-old girl is brought into A&E following an episode that is labelled as a single generalised **tonic-clonic seizure** by the clerking doctor.
The episode lasted 3 minutes and upon arrival she had completely recovered.
She has been unwell for the last 4 days with a high temperature, and this morning her parents noticed an erythematous blanching rash on her torso and neck.
On further questioning, her parents report that this is her first seizure and although they have no family history of epilepsy their son also had a one-off seizure at a similar age.
**What is the most likely underlying pathology?**
**Human Herpes Virus 6** or **Roseola Infantum**
The child has experienced a febrile convulsion.
**Human Herpes Virus 6** or **Roseola Infantum** is one of the most common causes of febrile convulsions in children.
The infection is characterised by a high fever that lasts for 3-5 days, with a maculopapular rash appearing as the fever subsides. The rash typically affects the trunk before spreading to the face, with similar spots appearing on the uvula and soft palate (Nagayama Spots).
81
A 16-month old boy presents to hospital with fever, poor feeding and drowsiness.
There is a rash of small purple spots on his chest that do not disappear when pressure is applied.
**Give the most likely diagnosis**
**What is the most appropriate initial management?**
**Which agents should be used?**
**Initiate antibiotics without waiting for the results of preliminary investigations**
* There should be no delay in treating **meningitis**
* with a penicillin or third generation cephalosporin
The exact choice of antibiotic will vary depending on local sensitivities.
82
An 8 year old girl presents to the GP because she has been badly constipated for the last few months.
Her mother has tried prune juice with no improvement.
She also says her daughter complains of being cold all the time and has gained some weight recently.
She is otherwise healthy, apart from some problems with **dry skin.**
She does not take any medications.
On general inspection, she appears short for her age and her hair is thin. Her BMI is 28. H
er respiratory rate is 18, heart rate is 56 and temperature is 36.8 degrees.
**Which of the following is the patient at higher risk of developing than the average population?**
**Vitiligo**
This girl with constipation, cold intolerance, weight gain, dry skin, short stature and thin hair has signs and symptoms consistent with hypothyroidism.
The most common cause of hypothyroidism in children **is auto-immune thyroiditis.**
Children with auto-immune thyroiditis are at higher risk of developing other auto-immune mediated conditions, such as type 1 diabetes, rheumatoid arthritis and vitiligo. In vitiligo, auto-immune destruction of melanocytes causes patchy areas of complete depigmentation.
83
A 9-year-old boy is brought to the GP by his father.
The child has a 2 year history of nocturnal enuresis.
Reducing fluid intake before bed and a star chart reward system were unsuccessful, and so they introduced an enuresis alarm six months ago, which has also had little effect.
**Which of the following medications can be prescribed in this situation?**
**Desmopressin**
In children whom conservative measures including a reward system and enuresis alarm fail to control nocturnal enuresis, drug treatment may be trialed in children over 7 years of age.
The first line choice is Desmopressin, a synthetic replacement for antidiuretic hormone.
Treatment should be assessed after one month and continued for three months if there are signs of response.
84
How are children rehydrated?
| (3)
**_Total daily fluid requirements in children_**
* 1st 10kg of bodyweight at 100ml/kg/day
* 2nd 10kg of bodyweight at 50ml/kg/day
* Remaining bodyweight at 20ml/kg/day
*The fluid type routinely used is 0.9% NaCl + 5% dextrose with 10mmol KCl (all in the same bag)*
85
A baby boy is born at 40 weeks via normal vaginal delivery in hospital, assisted by midwives.
After he is dried and placed on his mother, the midwife wishes to assess his condition.
**How does she assess this newborn? (2)**
**APGAR score at 1 and 5 minutes post birth**
The APGAR score **(stands for appearance, pulse, grimace, activity and respiration**) should be performed at 1 and 5 minutes for all newborns.
It involves scoring each element from 0-2 depending on how well the baby is doing in that category.
Maximum score of 10 would be found in a baby which is fully pink, has a pulse rate \>100, has a full cry in response to stimulation, is actively moving and flexing extremities and has a good respiratory effort.
The aim of the score is to assess the condition and progress of the child, it is not used as a predictor of mortality or neurological status.
86
A 32 week old baby is born by emergency C-section after the mother presented to A&E Paediatrics with placental abruption.
The baby did not cry or breathe spontaneously and required intensive resuscitation including 2 minutes of cardiopulmonary resuscitation.
Intubation was successfully completed at minute 14 of life.
The baby is ventilated and transferred to the neonatal intensive care unit.
On day 2 of life, the baby remains intubated with saturations of 95% on 35% FiO2.
The baby is very floppy with extremely poor tone.
In the last 24 hours, the baby has had 2 seizures lasting 10 and 15 minutes respectively.
**Which intervention at 6 hours of life would help to reduce the severity of this condition?**
**Cooling to 34 degrees**
This premature infant is at **high risk for hypoxic damage**, as there was reduced blood flow from the placenta (abruption) and the neonate did not breathe spontaneously at birth (required resuscitation).
This, combined with the subsequent hypotonia and seizures means a diagnosis of **hypoxic ischaemic encephalopathy (HIE) is likely**.
Further damage in HIE can be reduced by inducing mild hypothermia by cooling the baby to 34 degrees.
87
A 9-month-old girl is brought to see her GP because her mother is concerned that she is no longer reaching her milestones and is becoming more irritable.
She was born at 39+6 weeks via spontaneous vaginal delivery, and all antenatal screening tests came back as normal.
On further questioning, the mother notes that her daughter has been feeding well, though she admits to having difficulty expressing enough milk, so has been feeding her daughter cows milk in replacement.
Clinical examination is difficult as the child is extremely irritable; however, **conjunctival** **pallor** and **glossitis** are noted.
The doctor suspects that she may be anaemic.
**Which of the following is the child most likely to be deficient in?**
Iron
Infants that drink too much cows milk, and babies that drink cows milk before the age of one are at risk of developing iron deficiency anaemia.
Iron deficiency anaemia can present as irritability, fatigue, developmental delay and poor cognition.
Conjunctival pallor and glossitis are also clinical features of iron deficiency anaemia.
88
What does Vitamin B3 deficiency cause?
| (2)
* Vitamin B3 deficiency causes **pellagra** (diarrhoea, dermatitis and dementia)
* it is traditionally caused by consuming a diet of primarily corn and maize.
89
A 12 hour old baby is brought in to A+E by his mother as she is concerned that he is jaundiced.
She mentions that he was born at term via an instrumental delivery following a prolonged labour.
The baby has a cephalohaematoma on his head as was documented at birth.
She wanted a physiological third stage of labour and declined the vitamin K injection for her baby and the syntocinon for herself.
She feels otherwise well in herself and has not had any infections during the pregnancy.
The baby has passed his first meconium and was initially feeding well on breast milk.
There is no history of haemoglobinopathies in the family.
**What is the most likely aetiology behind this presentation?**
**Vitamin K deficiency**
**Vitamin K does not pass well through the placenta and babies are normally born with a Vitamin K deficiency.**
Vitamin K is necessary in the clotting cascade **(factors 10, 9, 7 and 2 – remember the date 1972).**
This is why IM Vitamin K is offered routinely to all newborn babies. Increased bleeding caused by deficiency can lead to jaundice through increased breakdown of these blood products.
This is particularly true in this case because of the cephalohaematoma.
90
A 4 year old boy is brought into the GP by his father who reports that he has noticed a growing mass in his son's tummy.
He is otherwise asymptomatic and there are no developmental concerns.
On examination his son there is evidence of abdominal distension and a large smooth mass is palpable in the right flank which does not cross the midline.
A urine dipstick shows evidence of haematuria.
**What is the most likely cause of his symptoms?**
**Wilm's tumour**
Wilm's tumour is the most common abdominal tumour in children.
It is also known as nephroblastoma and is most common in children under 5 with a peak incidence between 3-4 years of age.
Wilm's tumours typically do not cross the midline but in up to 5% of cases they may be bilateral.
It presents with a palpable abdominal mass, distension and haematuria.
91
You are an FY2 doctor working on paediatrics conducting a neonatal check on an 18 hour old baby girl.
She was born via elective C-section for breech presentation.
She is alert, moving all limbs spontaneously, and appears pink. The fontanelles are soft.
The chest is clear with heart sounds I and II with no extra sounds or murmurs.
**You see a red reflex on ophthalmoscopy.**
**There is a tarry black stool in her nappy.**
A clunk is felt when the femurs are pushed down perpendicular to the cot, and a second clunk when the hips are lifted up and externally rotated.
**What is the name of this test?**
**What is the next best step in management for this baby?**
**Ultrasound of the hips**
This baby has a ‘clunk’ on examination of the hips with the **Barlow** (dislocation on pushing perpendicular femur down into the bed)
and
**Ortolani** (relocation on abduction of the hips) signs suggestive of developmental dysphasia of the hip.
This needs to be investigated further with a hip ultrasound.
92
A 14 year old obese boy presents to ED with sudden onset pain in the right hip and reduced range of movement.
Examination is otherwise normal.
Observations and routine bloods are also unremarkable.
**What would be the most suitable next investigation?**
**Plain** **radiograph** of the pelvis in AP and frog-leg views
This is a typical presentation of SUFE.
Risk factors include male sex and obesity.
The most sensitive view for SUFE is the frog-leg view as typically the slip is posterior.
93
An **8 year old boy** is brought into the A&E by his mother, who is very worried about a **rash she has noticed on his legs.**
On further questioning, the boy has had **coryzal symptom**s over the last 3 days but otherwise feels well.
His mother first noticed the rash this morning and has never seen anything like it before.
On examination there is a **palpable purpuric rash across** the back of his legs.
Cardiovascular and respiratory examination is normal, his temperature is 37.6 and his abdomen and left knee are tender on palpation.
Blood tests reveal an elevated CRP.
**What is the likely diagnosis?**
**Which of the following is the next best investigation?**
**Urine dipstick**
This boy has a triad of;
* purpura over the extensor surfaces of the lower limb
* abdominal pain
* arthritis
This clinical picture is suggestive of **Henoch-Schonlein purpura.**
It is important that urinalysis is performed and blood pressure is checked to monitor for signs of renal involvement (haematuria/proteinuria/nephritic syndrome/nephrotic syndrome).
94
An 8 year old girl is brought in by her mother having been unwell with a sore throat and runny nose for the past week.
Her mother reports that for the past two nights she has been suffering from severe coughing fits which last up to a few minutes and is then gasping for breath.
She has also vomited forcefully after a few of the coughing episodes. Her mother has noticed she appears very red in the face during the coughing fits.
On further history taking her mother reveals that she has not received any vaccinations since birth as her mother was worried about the risk of developing autism.
**Given the likely cause of her symptoms which investigation would provide be most likely to provide a definitive diagnosis?**
**PCR**
PCR is the most sensitive investigation for the diagnosis of **pertussis**, with a sensitivity of 94% and a specificity of 97%.
However, it should be noted a positive PCR result in the absence of cough is NOT diagnostic for **whooping cough.**
95
A 4-year-old girl presents to the GP with sore throat, **drooling**, and refusal to take food or liquids orally.
This occurred rapidly overnight.
**The child has a temperature of 39 degree Celsius.**
Breathing is **shallow** and is accompanied by **grunting**.
There is no history of cough and the child was previously well.
**Which of the following is the best next step in the management of this patient?**
**Send to hospital immediately**
Severe sore throat without evidence of tonsillitis/pharyngitis is **epiglottitis** until proven otherwise.
The short but severe history of sore throat and pyrexia is also suggestive of epiglottitis.
Epiglottitis is a life-threatening airway emergency.
96
A 2 year old girl has been brought in by her parents to the GP as she is complaining of pain on passing urine.
This is her third episode of a urinary tract infection (UTI) in last few weeks.
Both previous infections were cleared within 48 hours.
The GP prescribes a course of antibiotics and sends off a sample for a midstream urine sample (MSU).
The child does not have any renal angle tenderness and is eating and drinking well.
The child responds within 48 hours and the MSU grows E.coli.
The child is alert and active.
**What is the most appropriate management? (2)**
* **Request an ultrasound scan within 6 weeks**
* **and a DMSA scan 4-6 months later**
*dimercaptosuccinic acid (DMSA) is used to assess renal morphology,*
This is the advice according to NICE guidelines.
An ultrasound scan at 6 weeks will look for any urinary tract pathology and a DMSA will look for renal scarring.
An MCUG is not necessary at this age as reflux nephropathy (diagnosed on MCUG) is more likely to have already presented by 6 months.
97
An 8 month old girl is rushed into PAU by her concerned parents as they are worried her breathing was becoming more difficult in recent days before having a brief seizure this afternoon.
Her parents report that she had a runny nose and fever for the past 5 days.
She has now developed a cough and has been eating slightly less than normal.
On examination she is febrile, tachypnoeic, tachycardic and her O2 saturations are at 94% on room air.
The family history is negative for atopy and asthma.
**Give the likely diagnosis.**
**What is the causative agent?**
**What is the most likely underlying cause of her seizure?**
**Hyponatraemia**
* commonly seen as a complication in **bronchiolitis**
* caused by **respiratory syncytial virus (RSV)**.
98
A 12 year old, fit boy presents to his GP complaining of a three day 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 immunisations are up to date.
**What is the most likely diagnosis?**
**How is it managed?**
**Transient synovitis**
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 (which will be normal) and ultrasound which shows synovitis.
**It is treated using NSAIDs and bedrest for up to 6 weeks.**
99
An **eight year old girl** is brought into the emergency department by ambulance.
She was found by her mother minimally responsive and with v**omit in her mouth.**
On examination, she is somnolent but rousable, with a GCS of nine. Observations were normal.
Her mother reports that she had been unwell with a 'cold' over the last three days, and her mother had given her aspirin and ibuprofen for her headache and fever.
Blood tests showed a mild anaemia, a **transaminitis**, raised bilirubin, a prolonged international normalised ratio, raised lactate and a raised C-reactive protein.
**A toxicology screen is negative. What is the most likely diagnosis?**
**Reye's syndrome**
## Footnote
Aspirin should not be given to children under 12 years old because of its association with Reye's syndrome.
Reye's syndrome is acute liver failure and non-inflammatory hepatic encephalopathy which occurs in children under 12 who are given aspirin during the acute phase of a viral infection.
Liver biopsies show microvesicular steatosis and venous collapse. Treatment is supportive, and often requires ITU admission.
Lactulose can be used to lower ammonia levels.
100
A 15 year old boy presents to the ED with sudden onset pain in his lower abdomen and scrotum after being hit by a cricket ball.
He has had episodes of pain in the scrotum before, but nothing as bad as this.
The pain started around two hours ago.
On examination the scrotum is exquisitely tender and swollen, with the left testicle raised higher in the scrotum.
**What is the most appropriate next step?**
**Contact urology for urgent surgical exploration of the scrotum through a scrotal approach**
This is testicular torsion, and is a urological emergency.
**The testicle must be detorted within six hours to remain viable.**
The approach is via the scrotum.
101
A 5-year-old boy is brought to paediatric A&E by her parents after an 8 day history of fevers that "just won't come down".
His parents report giving their son Paracetamol during this time, but it made no difference.
On examination there is a widespread polymorphic rash across his torso, and he has oedematous hands and feet.
The child has cracked lips and on examination of the mouth there is a strawberry tongue.
**What is the most likely diagnosis?**
**Which of the following is the most appropriate management?**
**What follow-up test should be done?**
**Aspirin** and **intravenous Immunoglobulin (IVIG)**
This patient has presented with core features of **Kawasaki** **disease**:
* prolonged (\> 5 days) fever
* polymorphic rash
* oedema of the extremities
* mucosal involvement (cracked lips and strawberry tongue)
Management of Kawasaki disease involves high-dose Aspirin and intravenous Immunoglobulin.
They should also have an echocardiogram to screen for coronary artery aneurysms, an important and serious complication of the condition.
102
A 15-year-old girl is brought into A&E by ambulance after collapsing in school.
On her way to the hospital, she fell unconscious before starting to jerk her arms and legs.
On arrival, she is still seizing and the paramedics inform the clerking doctor that it has been ongoing for 25 minutes, despite two doses of buccal Midazolam being given.
**Which of the following is the next best pharmacological management?**
**(2)**
**IV Phenytoin**
**Seizures lasting longer than 5 minutes are classed as status epilepticus.**
After two unsuccessful doses of benzodiazepines, IV Phenytoin should be initiated.
Phenytoin can cause bradycardia and hypotension so you must monitor the blood pressure and ECG.
***Rectal diazepam is used if there is no IV access***
103
A one-year old girl presents to the Emergency department with intermittent abdominal pain.
Her father explains that during these episodes the child becomes irritable, pale, and **draws her legs up towards her abdomen.**
There has been no vomiting, but the child has refused feeds for two days.
The abdomen is soft, but there is a palpable, sausage shaped mass in the right flank.
**Give the likely diagnosis.**
**What is the first line management after resuscitation?**
**Air enema**
The diagnosis is **intussusception**.
For patients without peritonism, this is the first line treatment, and is successful in 75%.
Air is used to create pressure within the intestine to resolve the obstruction.
