Day 1 Flashcards
A 3-month-old infant presents with vomiting and regurgitation following feeds. The child is gaining weight normally and no abnormalities are found on examination
gastro-oesophageal reflux disease
a 6-year-old girl who has sickle cell disease develops pallor and fatigue shortly after a viral illness characterized by an erythematous rash affecting her cheeks
Parvovirus B19
A two-year-old child is brought to the hospital. His parents are concerned as he has had a temperature of 39ºC for the last five days. They have also noted that his eyes are red, his neck is swollen and he has a new rash.
On examination, there is a generalised maculopapular rash and the child has bilateral conjunctivitis. There is unilateral cervical lymphadenopathy. The lips are cracked and erythematous and a strawberry tongue is present.
What is the diagnosis?
What treatment should this child receive initially?
This child has Kawasaki disease.
Kawasaki disease is a systemic vasculitis that generally presents in the under 5s.
Typical findings, as seen in this case, include an acute febrile illness lasting over 5 days, bilateral non-purulent conjunctivitis, unilateral cervical lymphadenopathy, a polymorphic rash, and mucosal erythema with a strawberry tongue.
Swelling of the hands and feet can occur in the acute stage with desquamation in the second week. Coronary aneurysms can develop in up to one-quarter of untreated patients.
THE MAIN GOAL OF TREATMENT IS TO REDUCE CARDIAC COMPLICATIONS.
The standard treatment in the UK is intravenous immunoglobulin and high dose aspirin (despite the fact that it is usually contraindicated in children) due to the additional anti-inflammatory effects this provides.
maculopapular rash
Define febrile
febrile
Define purulent
consisting of, containing, or discharging pus.
conjunctivitis
What is a polymorphic rash?
What are the characteristics of Kawasaki’s disease?
(6)
Typical findings
- acute febrile illness lasting over 5 days
- bilateral non-purulent conjunctivitis
- unilateral cervical lymphadenopathy
- polymorphic rash
- mucosal erythema
- strawberry tongue
What is vasculitis?
autoimmune inflammation, of the blood vessels
categorized by the size of the blood vessels
white blood cells confuse the normal antigens on the endothelial cells with the antigens of foreign invaders because they look similar—this is called molecular mimicry
This exposes the underlying collagen to intravascular coagulation (blood clots(
Fibrin is deposited into the walls as part of the healing process stiffening the vessels or aneurysms
What causes Kawasaki’s disease?
vasculitis affecting medium-size vessels supplying organs
it affects the coronary arteries
How is Kawasaki’s disease managed?
(4)
Management
- high-dose aspirin
- Kawasaki disease is one of the few indications for the use of aspirin in children. (Due to the risk of Reye’s syndrome aspirin is normally contraindicated in children)
- intravenous immunoglobulin
- echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
What is Reye’s syndrome
(2)
- Encepalopaphy + liver damage following a viral infection
- mitochondria become damaged within the liver and the liver is unable to filter nitrogenous compounds, causing hepatic encepaplopathy
A 5-week-old boy is brought into the GP by his mother with diarrhoea and vomiting for the past 4 days. He also has a new rash that is irritating him and has developed a runny nose.
There is no history of any weight loss, pyrexia, or other family members being unwell.
On further questioning, she reports that she has tried to wean him from breast to bottle this week as she is going away with work in 3 weeks time and is anxious about him not feeding well if there is a sudden change.
The GP suspects that the infant may have cow’s milk protein intolerance.
What is the next most appropriate feed to trial in this infant?
If a formula-fed baby is suspected of having mild-moderate cow’s milk protein intolerance then a extensively hydrolysed formula should be tried
When is extensively hydrolysed formula milk used?
severe cow’s milk protein intolerance
What are the features of cows milk intolerance in infants?
Features
- regurgitation and vomiting
- diarrhoea
- urticaria, atopic eczema
- ‘colic’ symptoms: irritability, crying
- wheeze, chronic cough
- rarely angioedema and anaphylaxis may occur
When is Amino acid-based formula used in infants?
Amino acid-based formula is appropriate for infants with severe cow’s milk protein intolerance (CMPI).
This formula is less palatable, however, it is appropriate for those with severe intolerance as it is composed of free amino acids only.
When is high protein formula used in infants?
(2)
High protein formula has been used to manage pre-term infants.
This is becoming an increasingly specialised use as there are increasing studies showing that high-protein feed (even in prematurity) is associated with increased long-term obesity risk.
When is a lactose-free formula used in infants?
Lactose-free formula would be appropriate if the child was considered to be lactose intolerant.
The features pointing towards cow’s milk protein intolerance are:
rash and runny nose
Infants with lactose intolerance will usually have GI symptoms only.
Cause of obesity in children
(5)
Cause of obesity in children
- growth hormone deficiency
- hypothyroidism
- Down’s syndrome
- Cushing’s syndrome
- Prader-Willi syndrome
What is Prader-Willi syndrome?
Prader-Willi syndrome is an example of genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father:
- Prader-Willi syndrome if gene deleted from father
- Angelman syndrome if gene deleted from mother
NICE recommendations for clinical obesity in children
(2)
NICE recommend
consider tailored clinical intervention if BMI at 91st centile or above
consider assessing for comorbidities if BMI at 98th centile or above
Eight-year-old. He has dysmorphic features with:
- macro-dolichocephaly,
- down-slanting palpebral fissures pointed chin
- Parents note that he has rapid growth and challenging behaviours
What is the most likely diagnosis?
Sotos syndrome: a rare disorder characterised by excessive physical growth and learning disabilities
Define dolichocephaly
Dolichocephaly
The most common form of craniosynostosis, where premature closure of the sagittal suture results in an impediment to the lateral growth of the skull while anteroposterior growth continues, producing a classic elongated, yet narrow, skull.
What is Sotos syndrome?
(2)
Sotos syndrome is a rare genetic disorder characterised by excessive physical growth during the first 2 to 3 years of life
It is caused by a mutation in the NSD1 (Nuclear receptor-binding SET domain containing protein) gene and is inherited with in an autosomal dominant fashion
What are the characteristics of Patau syndrome?
(4)
Trisomy 13
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
survival beyond the neonatal period is rare
What are the features of Edward’s syndrome?
(4)
Trisomy 18
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Marie is a 14-year-old who has come to her GP for contraception advice. She explains she has been sexually active with a 14-year-old male partner for the last 2 months.
She has researched various methods of contraception and would like to try the combined oral contraceptive pill (COCP).
She has previously had depression after being abused as a child and remains under the care of the Child and Adolescent Mental Health Services.
However, she says her mood has been much better since meeting her partner. Her parents do not know about the situation and she can not be convinced to tell them.
What is the right course of action?
Prescribe the COCP, providing there are no contraindications
When can you provide contraceptive, abortion and STI advice and treatment, without parental knowledge or consent?
a. they understand all aspects of the advice and its implications
b. you cannot persuade the young person to tell their parents
c. the young person is very likely to have sex with or without such treatment
d. their physical or mental health is likely to suffer unless they receive such advice or treatment
e. it is in the best interests of the young person to receive the advice and treatment without parental knowledge or consent.
A 2-day-old baby has not passed meconium yet.
Your consultant tells you they believe that the child has Hirschsprung’s disease, and asks you what your initial management would be.
Until a firm diagnosis can be made and more definite treatment given, which of these is the best initial treatment for this child?
The initial management in Hirschprung’s disease is rectal washouts/bowel irrigation
What is the cause of Hirschsprung’s disease?
Hirschsprung’s disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.
Thus a segment of the bowl is paralysed.
Possible presentations of Hirschsprung’s
(2)
Possible presentations
neonatal period e.g. failure or delay to pass meconium
older children: constipation, abdominal distension
Hirschsprung’s investigations
(2)
Investigations
abdominal x-ray
rectal biopsy: gold standard for diagnosis
Hirschsprung’s management
Management
initially: rectal washouts/bowel irrigation
definitive management: surgery to affected segment of the colon
A mother comes in saying that she thinks her 6-month-old son has colic.
She shows you a video on her phone.
The video shows a 6-month-old baby crying, which stops abruptly and the child draws his chin into his chest, throws his arms out.
The child then relaxes and starts crying again, and over the course of the minute long video this is repeated around 10 times.
The mother also reports that the child has been referred to the community paediatric clinic due to slight delay in reaching developmental milestones.
Which one test is most appropriate for you order to help confirm your diagnosis?
In infantile spasms the child will become distressed between spasms, whereas in colic the child will become distressed during the ‘spasms’
EEG is needed, as hypsarrhythmia is commonly found in West’s syndrome.
Define colic
Colic is when a healthy baby cries for a very long time, for no obvious reason.
It is most common during the first 6 weeks of life.
It usually goes away on its own by age 3 to 4 months. Up to 1 in 4 newborn babies may have it.
Define Hypsarrhythmia
Hypsarrhythmia is very chaotic and disorganized brain electrical activity with no recognizable pattern, whereas a normal brain electrical activity
An 11-week-old boy started with a runny nose and mild fever.
He was better for 2 days, and then now has begun coughing often, is struggling to breathe and is not taking to feeds.
On examination, there is evidence of nasal flaring.
On chest auscultation, there are bilateral crackles and an expiratory wheeze. His temperature is 38.2ºC (normal: 36.1-38.0ºC), oxygen saturations are 98% on air (normal: >96%), the heart rate is 130 beats per minute (normal: 115-160), and he has a respiratory rate of 48 breaths per minute (normal: 25-45).
What is the most likely diagnosis?
What is the most appropriate treatment?
Bronchiolitis does not require antibiotics
children require supportive management only
Bronchiolitis features
(5)
Features
- coryzal symptoms (including mild fever) precede:
- dry cough
- increasing breathlessness
- wheezing, fine inspiratory crackles (not always present)
- feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
Investigation of bronchiolitis
Investigation
immunofluorescence of nasopharyngeal secretions may show RSV
Management of Bronchiolitis
(3)
Management is largely supportive
- humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%
- nasogastric feeding may be needed if children cannot take enough fluid/feed by mouth
- suction is sometimes used for excessive upper airway secretions
Epidemiology of bronchiolitis
(3)
respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases
most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months). Maternal IgG provides protection to newborns against RSV
higher incidence in winter
A 7-year-old boy is diagnosed with Attention Deficit Hyperactivity Disorder. What is the most appropriate dietary advice to give to his parents?
NICE recommend a normal balanced diet unless a food diary has demonstrated a link between behaviour and certain foods.
What is Croup?
- Croup is a form of upper respiratory tract infection seen in infants and toddlers.
- It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions.
- Parainfluenza viruses account for the majority of cases.
What is the Epidemiology of croup?
(2)
What is the Epidemiology
peak incidence at 6 months - 3 years
more common in autumn
What are the features of croup?
(4)
Features
- stridor
- barking cough (worse at night)
- fever
- coryzal symptoms
What is Laryngomalacia?
(2)
Congenital abnormality of the larynx.
Infants typical present at 4 weeks of age with: stridor
What is Acute epiglottitis?
What ages does it affect?
Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B.
Prompt recognition and treatment is essential as airway obstruction may develop.
Epiglottitis generally occurs in children between the ages of 2 and 6 years.
What are the features of acute epiglottitis?
(4)
Features
- rapid onset
- unwell, toxic child
- stridor
- drooling of saliva
An 11-year-old boy presents to his general practitioner with unilateral hip and knee pain of 2 weeks after being involved in a tackle whilst playing football.
He has a marked limp that has recently worsened.
On examination, there is the loss of internal rotation of the leg in flexion. He has no fever and his observations are stable.
What is the most likely diagnosis?
There is often the loss of internal rotation of the leg in flexion in slipped capital femoral epiphysis
typically age group is 10-15 years
Epidemiology of slipped capital femoral epiphysis
(4)
- typically age group is 10-15 years
- More common in obese children and boys
- Displacement of the femoral head epiphysis postero-inferiorly
- May present acutely following trauma or more commonly with chronic, persistent symptoms
Features of Slipped capital femoral epiphysis
(3)
Features
hip, groin, medial thigh or knee pain
loss of internal rotation of the leg in flexion
bilateral slip in 20% of cases
What are the investigations and management of Slipped capital femoral epiphysis?
Investigation
AP and lateral (typically frog-leg) views are diagnostic
Management
internal fixation: typically a single cannulated screw placed in the center of the epiphysis
What is Transient synovitis?
(4)
Transient synovitis is sometimes referred to as irritable hip. It generally presents as acute hip pain associated with a viral infection.
The typical age group is 2-10 years.
A low-grade fever is present in a minority of patients but high fever should raise the suspicion of other causes such as septic arthritis.
It is the commonest cause of hip pain in children.
Transient synovitis is self-limiting, requiring only rest and analgesia.
What is Perthes’ disease?
What is the typical age range?
Where does it affect?
(3)
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.
What are the features of Perthes’s disease?
(4)
Features
- hip pain: develops progressively over a few weeks
- limp
- stiffness and reduced range of hip movement
- x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
What is the epidemiology of Perthes’ disease?
(3)
children, typically between the ages of 4-8 years
Perthes’ disease is 5 times more common in boys.
Around 10% of cases are bilateral
How is Perthes’ disease diagnosed?
What are the complications?
Diagnosis
- plain x-ray
- technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist
Complications
- osteoarthritis
- premature fusion of the growth plates
You see the mother of a 6-month-old baby who was born premature (at 32 weeks) and has recently been discharged from hospital following an admission with ‘breathing problems’.
Whilst he was in the hospital he was given an injection called palivizumab, however, the mother cannot recall what this medication is for.
What is this medication and its indication?
Palivizumab is a monoclonal antibody which is used to prevent respiratory syncytial virus (RSV) in children who are at increased risk of severe disease.
Those at risk of developing RSV include
- Premature infants
- Infants with lung or heart abnormalities
- Immunocompromised infants
A 32-year-old G1P0 woman, who is 32-weeks pregnant, attends her GP surgery complaining of dysuria.
The GP arranges a urine dip and culture. The urine culture grows, a Gram-positive, beta-haemolytic cocci, described in the report as ‘Group B’.
What is the most likely effect on the foetus, from the bacteria identified in the mother’s urine culture?
Maternal Group B Streptoccocus is a risk factor for neonatal sepsis
Prenatal rubella infection is associated with which birth defect?
Congenital cataracts and Hearing impairment
Congenital cataracts and Hearing impairment is associated with which prenatal infection?
Rubella infection
What are the risk factors for neonatal sepsis?
low birth weight
Prolonged rupture of membranes (≥18 hours)
A 26-year-old primiparous woman gives birth to her first child at 39 weeks.
The child is delivered via caesarean section.
The baby and mother are well post-delivery. Observations are normal and there are no postoperative complications noted.
During routine post-birth checks, a sample of umbilical cord blood is taken and analysed.
Glucose is recorded as 2.4 mmol/L.
What should the management be?
Encourage early feeding and monitoring blood glucose is the correct answer. Transient hypoglycaemia is common in newborns, and if asymptomatic is not a cause for concern.
In these cases, as in the situation above, encouraging early feeding (either bottle or breast) and monitoring blood glucose until normalised is all that is required.
A 16-year-old girl with cystic fibrosis is being reviewed for her annual check-up. She was diagnosed with cystic fibrosis 15 years ago.
She has a good exercise tolerance, minimal gastrointestinal symptoms and has not been hospitalised in the past year.
Her recent investigations show an iron-deficient anaemia on her blood work, and multiple positive sputum cultures for Burkholderia species.
Her latest FEV1 is 60% of her predicted.
What feature of her history confers the greatest increase in mortality?
Chronic infection with Burkholderia species is known to increase mortality
This infection is an opportunistic infection which can cause loss of lung reserve, hospitalisation and disseminated infection. All of these features contribute to the increase in mortality it confers.
A 3-month-old baby girl is diagnosed as having developmental dysplasia of the left hip following an ultrasound examination.
Clinical examination of the hip was abnormal at birth.
What treatment is she most likely to be given?
Pavlik harness (dynamic flexion-abduction orthosis)
most unstable hips will spontaneously stabilise by 3-6 weeks of age
older children may require surgery
Developmental dysplasia of the hip
Clinical examinations (2)
Clinical examination
Barlow test: attempts to dislocate an articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head
A 9-day-old pre-term neonate stops tolerating his cow’s milk feeds given by the nurses in the special care baby unit.
He vomited after the most recent feed and the nurse noticed bile in the vomit. Stools are normal consistency but the last stool contained fresh red blood.
On examination, he is well hydrated but his abdomen is grossly distended and an urgent abdominal x-ray is requested.
X-ray shows distended loops of bowel with thickening of the bowel wall. What is the next best step in management?
This scenario describes a case of necrotising enterocolitis.
Given the history and examination along with the age and prematurity of the infant, bacterial necrotising enterocolitis is the most likely diagnosis.
Due to the seriousness of this, broad-spectrum antibiotics must be commenced immediately. For this reason, answer 2 is the correct answer.
You are performing a newborn baby check and discover during your examination that the neonate has ambiguous genitalia.
What is the most likely cause of ambiguous genitalia?
congenital adrenal hyperplasia is most common cause in newborns
What is Klinefelter’s syndrome also known as?
What is the karyotype of Klinfleter’s?
What are the features? (6)
How is it diagnosed?
What is Klinefelter’s syndrome also known as?
primary hypogonadism
What is the karyotype of Klinfleter’s?
Karyotype 47, XXY
What are the features?
- often taller than average
- lack of secondary sexual characteristics
- small, firm testes
- infertile
- gynaecomastia - increased incidence of breast cancer
- elevated gonadotrophin levels
How is it diagnosed?
chromosomal analysis
Why are patients with Klinefelter’s normally diagnosed during puberty?
(2)
Individuals with Kallman’s syndrome do not have ambiguous genitalia
They are phenotypically and genotypically male, but have hypogonadotropic hypogonadism.
This is often diagnosed at puberty.
During routine post-birth checks, a sample of umbilical cord blood is taken and analysed. Glucose is recorded as 2.4 mmol/L.
What should the management be?
Neonatal hypoglycaemia: if asymptomatic then encourage normal feeds and monitor glucose
Features of chickpox
(3)
- Fever initially
- Itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
- Systemic upset is usually mild
Features of measles
- Early symptoms: irritable, conjunctivitis, fever
- Koplik spots: white spots (‘grain of salt’) on buccal mucosa
- Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
Which childhood disease initially presents with irritability, conjunctivitis, fever.
Koplik spots are also present on the buccal mucosa
A maculopapular rash then develops behind the ears, spreading to the whole body.
Measles
Features of rubella
(2)
- Rash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 3-5 day
- Lymphadenopathy: suboccipital and postauricular
What are the features of scarlet fever?
(4)
- Reaction to erythrogenic toxins produced by Group A haemolytic streptococci
- Fever, malaise, tonsillitis
- ‘Strawberry’ tongue
- Rash - fine punctate erythema sparing the area around the mouth (circumoral pallor)
What are the features of Hand, foot and mouth disease?
- Caused by the coxsackie A16 virus
- Mild systemic upset: sore throat, fever
- Vesicles in the mouth and on the palms and soles of the feet
What is the pathophysiology of Vesicoureteric reflux (VUR)
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 junction cannot, therefore, function adequately
You are running a Thursday afternoon clinic and a father comes in with his 12-year-old son who has developed new pustular, honey-coloured crusted lesions over his chin.
You diagnose localised non-bullous impetigo.
What is your management plan?
Prescribe topical hydrogen peroxide 1% cream and advise them that the child should be excluded from school until the lesions are crusted and healed.
A child with impetigo should be excluded from school until the lesions are crusted and healed or 48 hours after commencing antibiotic treatment
How long should patients with scarlet fever stay off school?
24 hours after commencing antibiotics
How long should patients with measles stay off school?
4 days after commencement of the rash
How long should patients stay off school with rubella?
5 days from the onset of the rash
When can patients with chickenpox go back to school?
When all the lesions have crusted over
How long should patients with mumps
5 days from the onset of swollen glands
How long should patients with impetigo wait before going back to school?
Until lesions are crusted and healed,
or
48 hours after commencing antibiotic treatment
How long should patients with scabies wait before returning to school?
until treated
How long should patients with Influenza wait before returning to school?
until recovered
You see a worried mum with her 6 month old baby boy. She is concerned that his skull shape is not normal.
His occiput is flattened on the left, his left ear mildly protruding forward and his left forehead more prominent than the right.
No other abnormality is detected. What is the most appropriate management?
Reassurance
Plagiocephaly
- parallelogram shaped head
- the incidence of plagiocephaly has increased over the past decade. This may be due to the success of the ‘Back to Sleep’ campaign
What are the four features of tetralogy of fallot
(4)
ventricular septal defect (VSD)
right ventricular hypertrophy
right ventricular outflow tract obstruction, pulmonary stenosis
overriding aorta
Which murmur is associated with Turner’s syndrome?
(2)
ejection systolic murmur due to bicuspid aortic valve
What is Kernicterus?
deposition of bilirubin into the brain parenchyma
about half of free bilirubin is free circulating
this can cross into the blood-brain barrier
bilirubin should be conjugated
What are Salmon patches?
(4)
Salmon patches are a kind of vascular birthmark which can be seen in around half of newborn babies they are also known as stork marks or stork bites.
They are pink and blotchy, and commonly found on the forehead, eyelids and nape of the neck.
They usually fade over a few months, though marks on the neck may persist.
What are Strawberry naevi?
(4)
Strawberry naevi (capillary haemangioma) are usually not present at birth but may develop rapidly in the first month of life. They appear as erythematous, raised and multilobed tumours.
Typically they increase in size until around 6-9 months before regressing over the next few years (around 95% resolve before 10 years of age).
Common sites include the face, scalp and back. Rarely they may be present in the upper respiratory tract leading to potential airway obstruction
Capillary haemangiomas are present in around 10% of white infants.
What is a cephalohematoma?
A cephalohematoma is an accumulation of blood under the scalp.
During the birth process, small blood vessels on the head of the fetus are broken as a result of minor trauma.
