Day 9 Flashcards
A 2-year-old boy is brought to the GP by his mother.
She has noticed a red rash on the flexor aspects of his elbows and on the abdomen and reports he is constantly trying to scratch. On examination the child appears well.
There is evidence of excoriation over red patches of dry skin but there is no crusting or evidence of infection.
A diagnosis of eczema is made.
What is the first line treatment in a child of this age?
This question focuses on the stepwise management of eczema in children. The child in this scenario has a new diagnosis and has not tried any treatment. The first-line treatment is topical emollients. If necessary, topical steroids can be used alongside the emollients, but emollients must be used before steroids can be added.
What is Kallman’s syndrome?
Kallman’s syndrome is a cause of delayed puberty secondary to hypogonadotrophic hypogonadism.
A 17-year-old male with a history of cystic fibrosis presents to clinic for annual review.
What is the most appropriate advice regarding his diet?
High calorie and high fat with pancreatic enzyme supplementation for every meal
Cystic Fibrosis key points (5)
- regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful
- high calorie diet, including high fat intake*
- patients with CF should try to minimise contact with each other to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
- vitamin supplementation
- pancreatic enzyme supplements taken with meals
- lung transplantation - chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation
How are CF patients with delta F508 mutation treated?
Lumacaftor/Ivacaftor (Orkambi)
is used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation
lumacaftor increases the number of CFTR proteins that are transported to the cell surface
ivacaftor is a potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore
(3)
Biliary atresia typically presents in the first few weeks of life with jaundice, appetite and growth disturbance
Biliary atresia causes fibrous obstruction of the extra-hepatic biliary ducts that can progress to liver failure.
The presentation typically includes jaundice with high conjugated bilirubin, growth and feeding disturbance, and hepatomegaly with raised liver transaminases (GGT most raised).
What are Dubin-Johnson and Rotor syndromes?
(3)
Both case jaundice and elevated conjugated bilirubin.
However, liver function derangement is not present.
Both of these conditions are autosomal recessive.
What is Gilbert’s syndrome?
(5)
Gilbert’s is an autosomal recessive* condition of defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase.
Features
- unconjugated hyperbilirubinaemia (i.e. not in urine)
- jaundice may only be seen during an intercurrent illness, exercise or fasting
Investigation and management
- investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid
- no treatment required
A 7-year-old boy is referred to the enuresis clinic by his GP. His mother initially contacted the GP concerned with ongoing bedwetting and it transpires that the boy has never had a ‘dry night’.
The GP has provided general advice on diet, fluid intake and toileting behaviour, though the mother says the bedwetting has not resolved. Despite the use of a reward system, the boy still wets the bed at night and the mother is getting concerned.
She speaks to the enuresis clinic and is sent home with an intervention.
What is this intervention likely to be?
An enuresis alarm is generally used first-line for nocturnal enuresis if general advice has not helped
Desmopressin is usually offered if the enuresis alarm does not work.
A 12-week-old baby is bought to his GP by his mother. She reports he has had regurgitation and vomiting after most feeds and ongoing diarrhoea which contains significant amounts of mucus. She is particularly concerned about his crying, as she finds it very hard to settle him and she has noted that he often pulls his legs up to his chest during these episodes.
He was born at full term and was a healthy weight at birth (although he has recently trailed off of his centile). He is formula-fed. Other than his apparent gastrointestinal problems, his only past medical history is some eczema managed with emollients.
What is the next step in management?
Trial of extensively hydrolysed formula is the best option here as the baby’s symptoms of vomiting mucus stool and ‘colic’-type episodes fit most with cow’s milk protein allergy. If the extensively hydrolysed formula resolves the symptoms then this essentially confirms this diagnosis and must be continued instead of normal formula milk. If it does not, amino acid-based formula (AAF) may be trialled and/or further investigations may be required.
You are attending labour for an emergency Caesarean section for failure to progress. The operation goes on without any complications. The baby cries immediately after birth and there is 30 seconds of delayed cord clamping. On examination, baby is centrally pink with blueish hands and feet. Saturation probes are attached to the baby and show an oxygen saturation of 73% at 1 minute.
What is the most appropriate next step in management?
In first 10 minutes of life, suboptimal SpO2 readings can be expected from a healthy neonate.
Observe and reassess at next interval
A 12-year-old high school pupil presents to you in GP with low mood. When you discuss the background of her mood it emerges that she has been bullied for having had sex with a 17-year-old boy in the same school. This only happened once and no alcohol or drugs were involved. She said that she wasn’t forced to have sex with him and that ‘it was consensual’.
What is the most appropriate immediate course of action?
You should disclose that this girl has been sexually active to the relevant authority
The issue of consent and confidentiality for young people around sexual issues can often be difficult, however, there is no doubt in this case.
Option 1 is the correct answer.
Legally, children under the age of 13 are unable to consent to sex. As such, you should normally disclose this. Any decision to not disclose should be discussed with a named or designated doctor for child protection and should be properly documented. It is very rare that this should happen.
A mother brings her child as she is concerned he is clumsy compared to other similar aged children. At what age would the average child acquire a good pincer grip?
12 months
A 14-year-old boy is brought in to the General Practitioner as his mother states that he has been struggling at school over the past year.
He has a past medical history of recurrent otitis media.
The mother states that her nephew and niece have both needed additional support at school and the latter also has Attention Deficit Hyperactivity Disorder (ADHD).
His birth history and early childhood development were normal.
On examination, he has an elongated face and protruding ears.
What is the most likely diagnosis?
Fragile X syndrome is the most common cause of inherited neurodevelopmental delay
The combination of a family history of neurodevelopmental delay, the characteristic facies and the past history of recurrent otitis media all point towards Fragile X syndrome, Fragile X syndrome is largely considered to have an X-linked dominant inheritance albeit with variable expressivity. It is more common in males than females, with approximately 1 in 4000 men being affected. It is also commonly associated with Attention Deficit Hyperactivity Disorder.
A four-month-old boy presents to the emergency department with a 12-hour history of irritability, fever and vomiting. Observations include respiratory rate: 42/min, heart rate: 147/min, blood pressure: 74/40 mmHg and temperature: 39.5ºC. Examination reveals a bulging anterior fontanelle and reduced tone in all four limbs.
What would be the most appropriate initial drug to prescribe for this patient?
Initial empirical therapy for meningitis if > 3 months of age: IV 3rd generation cephalosporin
Antibiotics
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone)
A 2 day old baby who was born by a ventouse delivery is noted to have a swelling on the left side of his head in the parietal region.
His head appeared normal immediately after delivery. O
n examination, the baby is well and the swelling does not cross suture lines. The fontanelles and sutures appear normal.
What is the most likely diagnosis?
Cephalohaematoma
A cephalohaematoma appears as a swelling due to bleeding between the periosteum and the skull. It is most commonly noted in the parietal region and is associated with instrumental deliveries. The swelling usually appears 2-3 days following delivery and does not cross suture lines. It gradually resolves over a number of weeks.
A 9-year-old boy presents to the general practitioner with his father complaining of right hip pain.
His father explains that he had the “flu” a few weeks ago.
His observations are as follows: he is alert, heart rate 78 bpm, respiratory rate 18 breaths/min, temperature 38.3ºC, blood pressure 118/76 mmHg, oxygen saturations, 99% on room air.
What is the diagnosis?
What is the most appropriate management?
The child is likely to have hip pain due to transient synovitis secondary to a previous illness, such as the flu.
If a child with a limp/hip pain has a fever they should be referred for same-day assessment, even if a diagnosis of transient synovitis is suspected
A 9-year-old girl is brought to see her GP by her mother with a 2 and a half week history of cough. Her mother says that she had a few days of coryzal symptoms around 3 weeks ago, shortly before the cough started. She says she coughs regularly that sometimes makes her vomit, and claims to have noticed a ‘whooping’ sound when she breathes in after a coughing fit. Her observations are all within normal limits.
Given the likely diagnosis, what is the appropriate treatment?
Whooping cough - azithromycin or clarithromycin if the onset of cough is within the previous 21 days
Cardiac features of PDA (5)
- left subclavicular thrill
- continuous ‘machinery’ murmur
- large volume, bounding, collapsing pulse
- wide pulse pressure
- heaving apex beat
A 3-year-old boy is brought into resus in cardiac arrest.
The patient was brought in by ambulance with his mother.
She is too distraught to give any history other than the child had been okay when she had left the room.
He was found unconscious on her return so an ambulance was called.
Which of the reversible causes of cardiac arrest are most likely in this situation?
The most common causes of arrest in children are respiratory
The most likely cause of this arrest was hypoxia as the most common cause of paediatric arrest is a respiratory arrest. In this case, hypoxia is likely due to a choking episode due to the child’s age and the lack of a clear history for another cause. Choking episodes are common causes of collapse and arrest in young ambulant children, particularly toddlers.
What are the general rules for dominant vs receive conditions?
Autosomal recessive conditions are ‘metabolic’ - exceptions: inherited ataxias
Autosomal dominant conditions are ‘structural’ - exceptions: Gilbert’s, hyperlipidaemia type II
Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’, notable exceptions:
- some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant
- some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive
Genetics of myotonic dystorophy
(4)
autosomal dominant
a trinucleotide repeat disorder
DM1 is caused by a CTG repeat at the end of the DMPK (Dystrophia Myotonica-Protein Kinase) gene on chromosome 19
DM2 is caused by a repeat expansion of the ZNF9 gene on chromosome 3
General features of myotonic dystrophy
(5)
- myotonic facies (long, ‘haggard’ appearance)
- frontal balding
- bilateral ptosis
- cataracts
- dysarthria
A sporty teenage boy presents with pain, tenderness and swelling over the tibial tubercle
What is the diagnosis?
Osgood-Schlatter disease
Continuous ‘machinery’ murmur is associated with which condition
patent ductus arteriosus
What is Benign rolandic epilepsy (2)
Benign rolandic epilepsy (BRE) is the most common form of childhood epilepsy. It is referred to as “benign” because most children outgrow the condition by puberty.
This form of epilepsy is characterized by seizures involving a part of the brain called the rolandic area.
Feature of benign Rolandic epilepsy
(3)
seizures characteristically occur at night
seizures are typically partial (e.g. paraesthesia affecting face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements)
child is otherwise normal
What is tumour lysis syndrome (TLS)?
TLS occurs from the breakdown of the tumour cells and the subsequent release of chemicals from the cell.
It leads to a high potassium and high phosphate level in the presence of a low calcium.
It should be suspected in any patient presenting with an acute kidney injury in the presence of a high phosphate and high uric acid level.
You are an F1 working in the emergency department.
One morning a 14-year-old girl is admitted from her secondary school with nausea and abdominal pain.
On examination, she is found to be septic and can only provide a brief history before becoming drowsy.
The surgical team believes she has an appendicitis which may have perforated requiring emergency surgery.
Her parents are not contactable with the numbers given by the school.
The patient is not alert enough to consent to the operation herself. What is the most appropriate action?
Take the patient to surgery immediately
A mother brings her 2-month-old son into the surgery to receive his first set of vaccinations. She is hesitant to vaccinate him, and particularly sceptical about the recent addition of the the rotavirus vaccine to the immunisation programme.
What can you tell her about the rotavirus vaccine?
(3)
it is an oral, live attenuated vaccine
2 doses are required, the first at 2 months, the second at 3 months
the first dose should not be given after 14 weeks + 6 days and the second dose cannot be given after 23 weeks + 6 days due to a theoretical risk of intussusception
Other points
the vaccine is around 85-90% effective and is predicted to decrease hospitalisation by 70%
offers long-term protection against rotavirus
Acute lymphoblastic leukaemia
With the symptoms of epistaxis and bruising leukaemia is the most likely choice out of the options given. This is compounded by the anaemia associated with low platelets.
Disseminated intravascular coagulation is also hinted at by the low platelets and prolonged prothrombin time. This would also fit with acute lymphoblastic leukaemia.
Acute myeloid leukaemia is unlikely due to the age group. White blood cells are normal which would point away from a long standing infection.
Although aplastic anaemia and myelodysplasia would give lowered erythrocytes and platelets, they would not produce the symptoms of epistaxis and bruising.
A mother brings her 5-week-old newborn baby to see you. She reports that she has noticed that his belly button is always wet and leaks out yellow fluid.
On examination, you note a small, red growth of tissue in the centre of the umbilicus, covered with clear mucus. The child is otherwise well, apyrexial and developing normally.
What is the most likely diagnosis?
What is the treatment?
An umbilical granuloma is an overgrowth of tissue which occurs during the healing process of the umbilicus. It is most common in the first few weeks of life.
On examination, a small, red growth of tissue is seen in the centre of the umbilicus.
It is usually wet and leaks small amounts of clear or yellow fluid.
It is treated by regular application of salt to the wound, if this does not help then the granuloma can be cauterised with silver nitrate.
What is the treatment for tumour lysis syndrome?
(3)
Patients at high risk of TLS should be given IV allopurinol or IV rasburicase immediately prior to and during the first days of chemotherapy.
Rasburicase is a recombinant version of urate oxidase, an enzyme that metabolizes uric acid to allantoin.
A 3-year-old boy presents to the GP with his mother who explains he has been unwell for the past 24 hours.
The mother explains that the boy has been feverish and has not been eating his food.
On general inspection, the child looks sickly and flushed.
There is a diffuse maculopapular rash across his chest and back and small white papules on the inside of his cheeks.
What is the likely diagnosis?
What is the most frequent complication?
Which investigation should be performed?
How is the condition managed?
The most likely diagnosis here is measles due to the characteristic fever, maculopapular rash, and koplik spots (white papules on the buccal mucosa that often present before the rash).
The most common complication of measles is otitis media
IgM antibodies can be detected within a few days of rash onset
management is supportive
What is the average age at which a child attains the ability to hop on one leg?
3-4 years
What is the average age at which a child attains the ability to pull to standing?
8-10 months
What is the average age at which a child attains the ability to squat to pick up ball?
18 months
A 4-year-old boy presents with his mother who is worried, as she notices that his urine is often a dark reddish colour.
She is also concerned that he has begun to eat less and less over the past couple of weeks.
`On examination he is afebrile and there is no history of any recent illness. The mother mentions that his father and grandfather both had kidney trouble but is unsure of what their diagnosis was.
Examination reveals a distended abdomen which is soft and non-tender.
A palpable mass is felt in the right flank.
What is the most likely diagnosis?
Wilms’ tumour
Given the boy’s age, and the symptom of haematuria with no reports of any pain, a palpable non-tender mass and a reduction in appetite with a distended abdomen Wilms’ tumour is the most likely diagnosis.
Renal cysts depending on their size often give rise to pain on palpation similar with polycystic kidney disease.
Urinary tract infections are often painful and are accompanied by a feeling of unwellness, therefore, it is unlikely.
Hydronephrosis is accompanied by a distended abdomen which becomes increasingly painful as the bladder further expands and is, therefore, an unlikely diagnosis in this case.
What is Wilm’s tumour?
When does it typically present? (3)
What are the features? (6)
When does it typically present? (3)
Wilms’ nephroblastoma is one of the most common childhood malignancies.
It typically presents in children under 5 years of age, with a median age of 3 years old.
What are the features? (6)
- abdominal mass (most common presenting feature)
- painless haematuria
- flank pain
- other features: anorexia, fever
- unilateral in 95% of cases
- metastases are found in 20% of patients (most commonly lung)
Management of Wilm’s tumour
(4)
Management
- nephrectomy
- chemotherapy
- radiotherapy if advanced disease
- prognosis: good, 80% cure rate
Define Enucleation
(2)
Enucleation is the surgical procedure that involves the removal of the entire eye and its intraocular contents
but with preservation of all other periorbital and orbital structures.
What is the pathophysiology of retinoblastoma?
What is the genetic cause?
(3)
Pathophysiology
autosomal dominant
caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
around 10% of cases are hereditary
What are the features of retinoblastoma?
(3)
Features
absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
strabismus
visual problems
A 5-week-old girl is brought to the GP surgery with a rash on her scalp:
What is the diagnosis? (1)
What is the most appropriate management? (2)
How long will it take to resolve? (1)
Management depends on severity
mild-moderate: baby shampoo and baby oils
severe: mild topical steroids e.g. 1% hydrocortisone
Seborrhoeic dermatitis in children tends to resolve spontaneously by around 8 months of age
Seborrhoeic dermatitis in children tends to resolve spontaneously by around 8 months of age
A 4-year-old boy presents to the GP with his mother.
She reports he developed a fever and a sore throat 3-days previously and is now presenting with a widespread rash over his trunk and legs.
On examination, the child is febrile, flushed, and lethargic, with a widespread erythematous rash over his trunk and legs, that has a rough texture.
Throat examination reveals a swollen red tongue with cervical lymphadenopathy.
What is the diagnosis? (1)
How should he be treated? (1)
Scarlet fever is characterised by a sandpaper rash
Scarlet fever is correct. This child is presenting with signs and symptoms of scarlet fever, with a characteristic sandpaper rash, swollen tongue, and lymphadenopathy.
He should be given a 10-day course of penicillin V for an underlying group-A streptococcal infection, advised to stay off school for 24-hours after starting the antibiotics, and public health should be notified.
A 32-year-old mother, gravida 5 presents in labour having had no antenatal follow up.
The neonate is born with the bowel protruding out of the abdomen but you note that it has a peritoneal covering protecting it.
What is the name of this condition?
What is the optimal management of the protruding bowel?
Exomphalos should have a gradual repair to prevent respiratory complications.
Staged closure starting immediately with completion at 6-12 months
Not to be confused with gastroschisis requires urgent correction
Difference between exomphalos and gastroschisis
A 1-year-old girl is investigated for recurrent urinary tract infections. A micturating cystourethrogram is ordered:
What is the diagnosis?
What do the red circles show?
Vesicoureteric reflux
Pathophysiology of VUR
- ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle
- therefore shortened intramural course of the ureter
- vesicoureteric junctions cannot, therefore, function adequately
Two different types of emphysema
Features of Perthe’s disease
(4)
Perthes’ disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years.
hip pain: develops progressively over a few weeks
stiffness and reduced range of hip movement
x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
x-ray finding of Perthe’s disease
x-ray: early changes include:
- widening of joint space,
- later changes include decreased femoral head size/flattening
What are VACTERLs?
What are they associated with?
associated with oesophageal atresia
Describe the appearance of the rash in hand/foot/mouth disease
erythematous macules
papules
A GP incidentally discovers a murmur in an 8-year-old girl.
The murmur is described as a ‘continuous blowing noise’ heard below both clavicles.
What is the most likely type of murmur diagnosed?
Venous hum is a benign murmur heard in children and sounds like a continuous blowing noise heard below the clavicles
