Paeds #2 Flashcards
A 13-year-old girl is admitted to the emergency department having been hit
by a car. She opens her eyes on command but not spontaneously. She is
talking, but not appropriately, shouting out occasional words. She will
not follow simple commands but when you press on her nail bed she
uses her other arm to push you away.
What is her Glasgow Coma Score?
A. 10
B. 11
C. 12
D. 13
E. 14
B – 11
The Glasgow Coma Scale (GCS) is a useful tool for objectively recording the conscious
state of a patient, both as an initial and continuing assessment. The
maximum score is 15, which implies full consciousness, and the minimum
score is 3, which implies deep unconsciousness. The scale comprises three
tests: eye, verbal and motor responses. It is the best response which is used in
the score. In this case, the patient scores 3 for eyes as she opens them to
speech; 3 for verbal as she is only using inappropriate words; and 5 for motor
as she localizes to pain
A 2-year-old girl presents to the general practitioner with a fever and vomiting.
On examination, there is no obvious focus for infection. A urine sample
is obtained and sent for urgent microscopy and culture. Before sending, a
urine dipstick analysis is performed.
Which of the below dipstick results most likely represents a urinary tract
infection?
A. Leucocytes negative, nitrites negative
B. Leucocytes negative, nitrates positive
C. Leucocytes 2þ, nitrates negative
D. Leucocytes 2þ, nitrites positive
E. Leucocytes 2þ, nitrates positive
D – Leucocytes 2þ, nitrites positive
All children with a non-specific fever should have a urine sample taken. The aim
of urine collection is to obtain a good quality sample from which the diagnosis of
urinary tract infection (UTI) can be confidently confirmed or excluded. A clean
catch is preferable but is often not possible. Non-invasive collection methods
include urine collection pads in the nappy, or a collection bag that goes over
the penis or vulval area. Where none of these are possible a suprapubic aspiration
can be performed.
Where possible an urgent microscopy and culture should be performed and
depending on the result action can be taken as appropriate.
An 8-year-old boy presents to his general practitioner with jaundice. About
a week earlier he had a brief period of what his mum thought was food
poisoning after a scout camp. During this time he had a fever, nausea and
diarrhoea. These symptoms have now resolved and he has developed
jaundice.
Which of the following is the most likely causative agent?
A. Hepatitis A
B. Hepatitis B
C. Hepatitis C
D. Hepatitis D
E. Hepatitis E
A – Hepatitis A
Hepatitis A accounts for more than half of cases of viral hepatitis in children. It is
transmitted via the faecal–oral route and often presents as a bout of food poisoning.
Hepatitis E is also transmitted via the faecal–oral route but is endemic
only in certain areas.
Viral hepatitis presents as follows. There is a preicteric phase, characterized by
headache, anorexia, malaise, abdominal discomfort, nausea and vomiting,
followed by an icteric phase (jaundice and tender hepatomegaly).
The treatment of hepatitis is mainly supportive, with rest and hydration. Hospitalization
may be required if there is severe vomiting and dehydration.
Deranged liver function (abnormal clotting) and hepatic encephalopathy
would also be an indication for admission.
An 8-year-old child is undergoing a routine operation. At pre-assessment
she appears well but slightly pale. Examination is unremarkable. Her
blood film reveals a microcytic, hypochromic anaemia and haemoglobin
electrophoresis shows increased levels of HbA2 and HbF. No HbH is seen.
What is the most likely diagnosis?
A. a-Thalassaemia trait
B. b-Thalassaemia major
C. b-Thalassaemia trait
D. Iron deficiency anaemia
E. Sickle cell anaemia
C – b-Thalassaemia trait
Microcytic, hypochromic anaemia is seen in both thalassaemias and iron
deficiency anaemia. ‘Haemoglobinopathies’ is the collective name for a group
of blood disorders where there is an abnormality in haemoglobin synthesis.
It includes the thalassaemias as well as sickle cell anaemia. They range from
asymptomatic forms to severe and even fatal forms. To understand thalassaemia
it is useful to know the normal structure of haemoglobin.
Normal haemoglobin is composed of a tetramer of globin chains (two a-globin
and two non-a-globin chains). In the fetus the two a chains pair up with two g
chains to produce fetal haemoglobin (HbF). In adults the majority of the haemoglobin
is HbA (two a chains and two b chains). About 2% of adult haemoglobin
is HbA2 (two a chains and two d chains). About 1% of adult haemoglobin is in
the fetal form (HbF).
b-thalassaemia major is an autosomal recessive disorder in which there is a complete
lack of production of the haemoglobin chain b-globin. It occurs mainly in
Mediterranean and Middle Eastern families and is due to a point mutation on
chromosome 11. Because patients with b-thalassaemia major have mutations
on both alleles and cannot synthesize any b-globin, they cannot produce functioning
adult haemoglobin (HbA – a2b2). This condition typically presents
within the first year of life when the production of fetal haemoglobin (HbF –
a2g2) begins to fall. Affected children become generally unwell and fail to
thrive secondary to a severe microcytic anaemia. Ferritin levels are normal
since there is no iron deficiency. A compensatory increase in the synthesis of
HbF and haemoglobin A2 (HbA2 – a2d2) occurs which can be detected on
serum electrophoresis.
An 8-year-old boy with known sickle cell disease arrives at hospital complaining
of severe pain in his fingers. He appears relatively well with no
evidence of infection. You place him on oxygen as his oxygen saturations
are 94% in air.
What is the next most important treatment to give him?
A. Hydroxycarbamide
B. Intravenous antibiotics
C. Intravenous sodium bicarbonate
D. Pain relief including opioids
E. Pain relief avoiding opioids
D – Pain relief including opioids
This boy is presenting with a painful crisis and requires analgesia immediately.
Sickle cell disease is a homozygous inheritance of faulty b-globin genes that is
the most common in African, Mediterranean and Middle Eastern countries. A
single amino acid substitution (glutamine ! valine) results in abnormal haemoglobin
(HbS). When exposed to low oxygen tensions or acidaemia, highly structured
polymers become brittle and distorted, leading to sickling (crescentic
shape) of the red cells. This means they are prematurely destroyed in the
spleen (mean life of the red cell is reduced to 10 to 12 days). Sickled cells can
also become trapped in the microcirculation, leading to thrombosis and ischaemia.
HbS can be detected on haemoglobin electrophoresis.
Children develop a progressive anaemia from about 3 months of age. Splenic
infarction can lead to asplenia and an increased risk of infections. Frontal
bossing (prominent forehead and supraorbital ridges) may be seen secondary
to excess erythropoiesis in the marrow of atypical sites. Most affected children
experience ‘crises’ throughout their life varying in frequency and severity.
Duncan is a 6-year-old boy who has been at school for almost 2 years. The
teachers are concerned that he has a lot of energy associated with difficulties
in maintaining attention on tasks. They feel this is significantly
impairing his academic development.
Which of the following is not true regarding attention deficit hyperactivity
disorder?
A. The behaviour should persist for at least 6 months
B. The behaviour should be inconsistent with the child’s developmental
age
C. The symptoms should only occur in one setting
D. There must be a significantly impaired social or academic development
E. There should be no other explanation for the symptoms
C – The symptoms should only occur in one setting
Attention deficit hyperactivity disorder (ADHD) usually presents before the age
of 7 and is present in approximately 1% of school-aged children. Boys are far
more likely to be affected. The symptoms of ADHD have a significant impact
on a child’s development, including social, emotional and cognitive functioning.
These symptoms cause significant morbidity and dysfunction for the
child, their family and their peer group.
The core symptoms of ADHD comprise developmentally inappropriate levels of:
† Inattention (difficulty in concentrating)
† Hyperactivity (disorganized, excessive levels of activity)
† Impulsive behaviour
It is possible to have just one of these features without the others, e.g. marked
hyperactivity without inattention or impulsive behaviour.
In addition to the above core symptoms the following criteria should be fulfilled:
† The behaviour should have persisted for at least 6 months
† The behaviour should be inconsistent with the child’s developmental age
† There must be clinically significant impairment in social or academic
development
† The symptoms should occur in more than one setting
† There should be no other explanation for the symptoms, e.g. psychiatric
illness
The diagnosis is difficult and requires gathering information from all those
involved in the child’s life.
Treatment packages are tailored to the child’s needs. These include psychosocial
intervention (e.g. family-based psychosocial intervention of a behavioural type
for the treatment of co-morbid behavioural problems), educational support and
social services support. If pharmacological intervention is required to manage
behavioural symptoms, psychostimulants (e.g. methylphenidate) are the firstline
treatment, followed by tricyclic antidepressants.
A 5-month-old girl presents with fever and irritability. A ‘clean catch’ urine
specimen is sent from the emergency department. Once on the ward the
nurse informs you she’s had a phone call from the lab and that the
microscopy of the urine has revealed a Gram-negative bacillus.
Which of the following organisms is causing this girl’s urinary tract
infection?
A. Campylobacter jejuni
B. Escherichia coli
C. Group A streptococcus
D. Niesseria meningitidis
E. Treponema pallidum
B – Escherichia coli
The presence of organisms on microscopy confirms a urinary tract infection.
Medically important bacteria can be classified depending on their morphology
and staining reactions. In clinical life, a microbiologist will be at hand to type
organisms, however organism classification comes up in exams. There is no
easy way to overcome this, you just have to learn them. For more information,
see Lecture Notes on Medical Microbiology
Gram-positive cocci
Staphylococcus ! S. aureus, S. epidermidis
Streptococcus ! S. pneumoniae, S. pyogenes
Gram-positive bacilli Bacillus ! B. anthracis, B. cereus Clostridium ! C. difficile, C. tetani, C. perfringens Corynebacterium ! C. diphtheriae Listeria ! L. monocytogenes
Gram-negative dipplococci
Niesseria ! N. meningitidis, N. gonorrhoeae
Gram-negative bacilli Escherichia ! E. coli Klebsiella ! K. pneumoniae Proteus ! P. mirabilis Salmonella ! S. typhi Shigella ! S. sonnei Yersinia ! Y. enterocolitica, Y. pestis Pseudomonas ! P. aeruginosa Bordatella ! B. pertussis Haemophilus ! H. influenzae Legionella ! L. pneumophila
Gram-negative comma-shaped/curved bacteria
Vibrio ! V. cholerae
Campylobacter ! C. jejuni
Helicobacter ! H. pylori
Spiral-shaped bacteria
Treponema ! T. pallidum
Borrelia ! B. burgdorferi
Acid-fast bacteria
Mycobacterium ! M. tuberculosis
Cell-wall deficient bacteria
Mycoplasma ! M. pneumoniae
A 6-year-old girl is seen in the paediatrics follow-up clinic. She was an
inpatient 5 months ago with meningococcal meningitis. Since discharge
she has been drinking excessively and passing large amounts of urine.
She has been passing so much urine that she is having to get up during
the night to urinate and has had a number of episodes of nocturnal enuresis
despite previously being dry for 3 years. She passes large volumes of urine
even when she is not drinking much. You insert a cannula and take
routine electrolytes
You receive the following blood results: Na 152 (135–145 mmol/L) K 4.2 (3.5–5.0 mmol/L) Urea 6.2 (1.5–4.5 mmol/L) Creatinine 83 (40–110 mmol/L) pH 7.37 (7.35–7.45) Glucose 4.2 (3.4–5.5 mmol/L) Which of the following is the most likely cause of the electrolyte disturbance?
A. Chronic renal failure
B. Conn’s syndrome
C. Diabetes insipidus
D. Diabetes mellitus
E. Syndrome of inappropriate ADH secretion
C – Diabetes insipidus
This girl most likely has central diabetes insipidus (DI) secondary to previous
meningitis. Her potassium and pH are normal, making Conn’s syndrome less
likely. Chronic renal failure is possible in meningococcal sepsis due to an insult
to the kidneys, but the serum urea and creatinine levels would be markedly
deranged. Diabetes mellitus would cause a high blood sugar level.
The differential diagnosis of polyuria and polydipsia include diabetes mellitus,
chronic renal failure, DI (central or nephrogenic) and psychogenic polydipsia.
DI is characterized by the excretion of excessive quantities of dilute urine with
thirst and is mediated by a lack of active antidiuretic hormone (ADH). ADH is
secreted by the posterior pituitary gland and has the function of increasing
water reabsorption in the kidney. There are two types of DI: cranial DI (which
is due to a lack of ADH secretion from the pituitary) and nephrogenic DI
(which results from a lack of response of the kidneys to circulating ADH).
Causes of cranial DI include infections (this case), head injury, surgery, sarcoidosis
and the DIDMOAD syndrome (characterized by Diabetes Insipidus,
Diabetes Mellitus, Optic Atrophy and Deafness). Nephrogenic DI can be due
to metabolic abnormalities (hypokalaemia, hypercalcaemia), drugs (lithium,
demeclocycline), genetic defects and heavy metal poisoning.
Patients with DI may pass up to 20 L of water in a day. The diagnosis of DI is confirmed
using the water deprivation test. The patient is deprived of water and the
urine and plasma osmolalities measured every 2 hours. If there is a raised plasma
osmolality (.300 mOsm/kg) in the presence of urine that is not maximally concentrated
(i.e. ,660 mOsm/kg) then the patient has DI. At this point in the test,
the patient is given an intramuscular dose of desmopressin (a synthetic analogue
of ADH). If the patient now starts concentrating their urine, then they
have cranial DI. If the urine osmolality remains ,660 mOsm/kg, then nephrogenic
DI is confirmed.
The treatment of cranial DI is with desmopressin. Nephrogenic DI is improved
by thiazide diuretics.
A 5-month-old boy presents to the emergency department with a short
history of irritability and poor feeding. He is systemically unwell, poorly
perfused and has a fever of 398C. The admitting doctor performs a septic
screen and starts antibiotics. You are called by the on-call microbiologist
with the following results of a lumbar puncture:
Blood sugar 4.8 mmol/L CSF sugar 3.9 mmol/L CSF protein 0.18 g/dL (range 0.2–0.4 g/dL) CSF white cell count 36 lymphocytes/mm3 CSF red cell count 50 red cells/mm3 Microscopy No organisms seen
Which of the following is the most likely diagnosis?
A. Bacterial meningitis
B. Intracranial haemorrhage
C. Normal result
D. TB meningitis
E. Viral meningitis
E – Viral meningitis
Cause
Appearance of fluid
White cell
count/mm3
Protein Glucose
Normal Clear 0–5 0.2–0.4 g/dL .50% of
blood sugar
Bacterial Turbid .5 (neutrophils) Raised ,50% of
blood sugar
Viral Clear .5 (lymphocytes) Low Normal
TB
meningitis
Clear/viscous Very high number
of lymphocytes
Very high Very low
In this case the emergency doctor was right to perform a septic screen and start
antibiotics. The lumbar puncture (LP) result is suggestive of viral meningitis.
However, you would want to continue antibiotics until the blood culture and
cerebrospinal fluid (CSF) culture return as negative.
There are several contraindications to performing an LP. Antibiotics should never
be delayed while waiting to perform an LP as the CSF result can still be interpreted
after antibiotics have been commenced.
Contraindications to LP include:
† Airway compromise
† Respiratory instability
† Cardiovascular instability
† Coagulopathy
† Clinical signs of raised intracranial pressure (high blood pressure,
bradycardia)
† Focal neurological signs
A 2-year-old boy presents to the emergency department with a stridor and
harsh cough. He has been unwell for 2 days with a runny nose and temperature
of 388C. When you arrive, he is sat up and drinking from a bottle. He
has a loud stridor and harsh cough.
Which of the following is the most likely diagnosis?
A. Epiglottitis
B. Infectious croup
C. Laryngomalacia
D. Subglottic stenosis
E. Upper respiratory tract infection
B – Infectious croup
Infectious croup (also known as laryngotracheobronchitis) now accounts for the
vast majority of laryngotracheal infections. Parainfluenza virus is the most
common causative organism. Peak age is the 2nd year of life. Croup presents
over a period of days with coryza followed by a severe cough. Affected children
are unwell and usually have a low grade fever. The stridor is harsh and it is very
unusual for children to drool or not be able to drink (unlike epiglottitis).
Epiglottitis is now rare due to the introduction of the HiB vaccine; however, you
should always be aware of it. Never examine the tonsils of a child who has a
stridor as it could potentially exacerbate airway obstruction. Epiglottitis has
a very acute onset with no preceding coryza, the child looks septic and has a
high grade fever (.38.58C). Children with epiglottitis have a very quiet cough
and quiet stridor, and they often drool as they are reluctant to swallow. Laryngomalacia,
where the cartilage of the upper larynx is too soft and collapses during
inspiration causing partial airway obstruction, is a common cause of stridor
which may appear at birth but most commonly appears at 2 to 4 weeks of
life. Symptoms are often worse when the child is supine or agitated. The
stridor usually resolves in the first year of life without intervention.
A 3-year-old boy has been followed-up by the paediatricians due to poor
language skills and delayed social development. He also displays ritualistic
behaviour. It is thought that he may have autism.
Which of the following statements is true regarding autism?
A. Aetiology is well described
B. Affects girls more commonly than boys
C. Language skills do not help predict long-term function
D. Presents before the age of 3 years
E. There is no increased risk of autistic disorder in siblings
D – Presents before the age of 3 years
Clinical manifestations of autism should be present by 3 years of age. If the
delays occur later than this, then a different developmental disorder should
be considered.
The following are true regarding autism:
† Affects boys more commonly than girls
† There is an increased risk of autistic disorder in siblings
† The aetiology is unknown
† Language skills and IQ are the best predictors of long-term function
The criteria for the diagnosis of autistic spectrum disorder are based on a triad of
impairments:
1. Social
† Impaired, deviant and delayed or atypical social development, especially
interpersonal development
2. Language and communication
† Impaired and deviant language and communication, verbal and nonverbal
† Impairment in pragmatic aspects of language
3. Thought and behaviour
† Rigidity of thought and behaviour and impoverished social imagination
† Ritualistic behaviour, reliance on routines, impairment of imaginative play
Management is tailored to each child. Preschool intervention within the home
environment/nursery is possible if the diagnosis is made early. Schooling
varies; many will attend mainstream school with support, and others require
support through a special unit. Schooling often requires a highly structured
environment to minimize disruption. Speech and language assessment and
input is also required to aid communication skills. Autistic spectrum disorder
not only affects the child but all members of the family, so adequate social
support including respite care is important
A mother brings her 6-week-old baby boy to the general practitioner as she
is worried he is vomiting. He weighs 4.6 kg and is bottle-fed. He is taking 4
oz (120 mL) every 4 hours but vomits after nearly every bottle. The vomiting
is occasionally projectile. Baby is not taking his feeds well and is crying
excessively. Examination is unremarkable and he displays normal growth.
What is the most likely diagnosis?
A. Colic
B. Gastro-oesophageal reflux
C. Normal variant
D. Overfeeding
E. Pyloric stenosis
B – Gastro-oesophageal reflux
Gastro-oesophageal reflux (GOR) is extremely common in infants, partly as their
lower oesophageal sphincter is not competent. Babies with reflux often present
with difficult feeding. They can appear to be in pain (arching their back and
crying) during or soon after a feed. While parents may describe the vomiting
in GOR as ‘projectile’ it is technically regurgitation as the stomach contents
are emptied effortlessly. An exact description from parents or observation of
the vomiting is helpful in the diagnosis. More severe symptoms of GOR
include apnoeic episodes, aspiration, failure to thrive, and a chronic cough or
wheeze.
A 4-year-old boy presents to the emergency department with a 36-hour
history of feeling unwell. He has a temperature of 38.18C and his cheeks
are bright red. He also has a maculopapular blanching rash covering
his limbs.
Which of the following is the most likely diagnosis?
A. Chickenpox
B. Fifth disease
C. Measles
D. Meningococcal sepsis
E. Scarlet fever
B – Fifth disease
Fifth disease (also known as erythema infectiosum, slapped cheek syndrome):
† Organism: Erythrovirus (parvovirus B19)
† Incubation period: 6–14 days
† Main features: Initially presents with appearance of slapped cheeks followed
by maculopapular rash on limbs, malaise and fever
† Complications: Arthralgia, aplastic anaemia
† Investigation findings: Full blood count to rule out aplastic crisis
Varicella (also know as chickenpox):
† Organism: Varicella zoster
† Incubation period: 14–21 days
† Main features: Rash on trunk and scalp made up of pustules, vesicles and
pustules. The onset of fever coincides with the pustular phase of the rash
† Complications: Encephalitis (presenting as ataxia), pneumonitis and conjunctival
lesions. If infection occurs with damaged skin (e.g. eczema),
then the risk of serious illness is much higher
Measles
† Organism: Measles virus
† Incubation period: 1–12 days
† Main features: Miserable child, fever, coryza, cough, conjunctivitis,
macular or maculopapular rash starting on the face working down to the trunk. Koplik’s spots (white pin heads) are found in the mouth. The
fever and coryza precede the rash by approximately 4 days
† Complications: Pneumonia, otitis media and encephalitis
Meningococcal sepsis
† Meningococcal disease: 25% septicaemia alone, 60% septicaemia þ
meningitis, 15% meningitis alone
† Organism: Neisseria meningitidis (Gram-negative diplococcus)
† Incubation period: 2–10 days
† Main features: Mild non-specific symptoms followed by shock, fever and a
widespread macular rash which becomes purpuric (non-blanching)
† Complications: Brain damage, loss of digits and limbs, deafness, blindness
and death
† Investigation findings: N. meningitidis can be grown from pharyngeal
swabs, blood cultures, aspirate of skin lesions or cerebrospinal fluid. Diagnosis
is increasingly relying on polymerase chain reaction
Scarlet fever
† Organism: Group A b-haemolytic streptococcus, e.g. Streptococcus
pyogenes
† Incubation period: 1–7 days
† Main features: Tonsillitis, erythematous rash predominantly on the trunk
and a sore coated tongue (strawberry tongue), desquamation (peeling)
of skin of palms and soles (towards end of the illness)
† Complications: Otitis media, rheumatic fever, acute nephritis
† Investigation findings: Raised antistreptolysin-O titres, group A streptococcus
on throat swab
A 15-year-old girl was recently started on the oral contraceptive pill. A few
weeks later she presented with a urinary tract infection which was successfully
treated with trimethoprim. Now, a month later, she has developed a
cold sore which is associated with multiple skin lesions over her lower
limbs. The lesions are round and deep red with a central area of pallor.
Which of the following is the cause of the rash?
A. Echovirus
B. Escherichia coli
C. Herpes simplex
D. Oral contraceptive pill
E. Sulphonamide antibiotic
C – Herpes simplex
This child has erythema multiforme (EM) most likely caused by herpes simplex
(herpes labialis, or cold sore). All of the listed options are causes of EM except the
oral contraceptive pill which causes erythema nodosum. Trimethoprim is commonly
used to treat urinary tract infections. It is also commonly used in conjunction
with sulphonamides in the form of co-trimoxazole. EM presents with
characteristic target lesions (1–3 cm oval or round, deep red, well-demarcated,
flat macules), though it may also present with macules, papules, wheals, vesicles
and bullae.
Stevens–Johnson syndrome is a severe form of EM with mucosal bullae in the
mouth, anogenital region and conjunctiva. Treatment is based on identifying
and treating the underlying cause and providing symptomatic support. Steroids
are given in severe cases. Most cases in children are caused by the herpes
simplex virus. Herpes simplex virus DNA is detected in approximately 80% of
cases.
You are referred a girl from primary care as the parents are worried she is the
shortest in her class. She enjoys school and is doing well. On examination,
you find her height to be below the 2nd centile and her weight to be on the
50th centile. She is 15 years old and has developed some pubic hair but still
has little breast tissue and has not started her periods yet, though mum tells
you she was a late developer. You also notice slightly low set ears and a
lowish hairline. She otherwise looks normal and has a normal examination.
What is the most likely diagnosis?
A. Congenital hypothyroidism
B. Klinefelter’s syndrome
C. Noonan syndrome
D. Normal child
E. Turner syndrome
E – Turner syndrome
This girl has Turner syndrome, one of the most common chromosomal disorders,
which was first described in 1938. It is due to the absence of an X
chromosome or the presence of an abnormal X chromosome (45XO).
Features of Turner syndrome include:
† Webbing of the neck
† A low hairline
† Shield-shaped chest
† Widely spaced nipples
† Wide carrying angle (arms turn out at the elbow).
† Low set ears in 80%
† Lymphoedema of hands and feet in the neonatal period
† Normal intelligence, though often have problems with spatial temporal
processing
As with most syndromes, features are variable and not always present. However,
nearly all girls with Turner syndrome have slow growth and early ovarian failure.
Kidney abnormalities, coarctation of the aorta, dissection of the aorta, bicuspid
aortic valve, otitis media and autoimmune thyroiditis are all seen in increased
frequency in girls with Turner syndrome.
Turner syndrome is often not diagnosed until adolescence when the girl fails to
go through puberty. Premature ovarian failure occurs and there are usually
characteristic ‘streak’ gonads instead of functioning ovaries. Adrenarche, the
beginning of pubic and axilla hair growth, usually occurs at a normal age as
this is not under the influence of oestrogen. Breast development and menstruation
do not occur except in a small minority. Infertility is almost universal. The
structure of the uterus, vagina and external genitalia is normal and pregnancy
with a donor egg is possible.
A 4-year-old boy who was born prematurely is known to have HIV. He is
asymptomatic and his latest CD4 count was 1250/mL. For the last
48 hours he has had a ‘cold’ but no associated temperature. He had an
acute exacerbation of his asthma 2 months ago which was treated with a
week course of prednisolone 30 mg. He is known to have an allergy to
eggs but this does not cause anaphylaxis. He is due his MMR booster.
Why is the MMR vaccine contraindicated in this child?
A. Egg allergy
B. HIV infection
C. Prematurity
D. Steroid treatment for asthma
E. Upper respiratory tract infection
D – Steroid treatment for asthma
The Department of Health states that ‘Almost all individuals can be safely vaccinated
with all vaccines. In very few individuals, vaccination is contraindicated or
should be deferred. Where there is doubt, rather than withholding vaccine,
advice should be sought from an appropriate consultant paediatrician or physician,
the immunisation co-ordinator or consultant in health protection.’
All vaccines are contraindicated in those who have had a confirmed anaphylactic
reaction to a previous dose of a vaccine containing the same antigens, or a confirmed
anaphylactic reaction to another component contained in the relevant
vaccine.
Live vaccines can cause severe, or fatal, infections in severely immunocompromised
children. This is due to extensive replication of the vaccine strain. Children
treated with high dose oral or rectal steroids are immunocompromised for up to
3 months after the course has finished. A week-long course of prednisolone is
significant (particularly if greater than 2 mg/kg). Not only does this child
need to have his MMR delayed but he most likely needs to see a respiratory paediatrician
regarding his asthma management as he is very young to require such
a prolonged course of oral steroids.
In general, vaccination should be postponed if the child is suffering from an acute
illness. Minor illnesses without fever or systemic upset are not contraindications.
Hypersensitivity to egg is a contraindication to the influenza vaccine, yellow fever
vaccine and tick-borne encephalitis vaccine. The MMR vaccine can be safely
given to most children with a history of egg allergy. For children who have had
a confirmed anaphylactic reaction, specialist advice should be sought with a
view to immunization under controlled conditions.
Children with HIVare at risk from live vaccines. They can, however, receive the live
vaccines for MMR and varicella unless they are severely immunocompromised
(CD4 count ,500/mL, or ,200/mL in children over 6 years of age). HIV-positive
individuals should never receive BCG or yellow fever vaccines.
A 4-year-old girl presents to the emergency department with a 7-day history
of fever. She also complains of abdominal pain. On examination, she has a
widespread rash, red conjunctiva and cervical lymphadenopathy.
Bearing in mind the most likely underlying cause of her symptoms, which
one of her features does not fulfil the diagnostic criteria?
A. Abdominal pain
B. Cervical lymphadenopathy
C. Conjunctivitis
D. Fever of at least 5 days duration
E. Polymorphous rash
A – Abdominal pain
Kawasaki disease is a vasculitis that occurs during childhood. Most children
(85%) with Kawasaki disease are under the age of 5 years and it is most
common in Japanese boys. The cause is still unknown; however, the peak
during winter and spring months have led to the theory of an infective origin.
The diagnostic criteria for complete Kawasaki syndrome are as follows:
Fever of at least 5 days duration plus 4 out of the following 5 criteria (plus the
lack of another known disease process that could explain the illness):
† Bilateral conjunctival injection without exudates
† Oral mucosal erythema: red, fissured lips, strawberry red tongue
† Polymorphous rash
† Extremities changes: peripheral oedema/erythema and periungual
desquamation
† Cervical lymphadenopathy
There may also be thrombocytosis. Kawasaki disease is the leading cause of
acquired paediatric heart disease as it causes coronary aneurysms, myocardial
infarction, myocarditis and pericarditis. The mainstay of treatment is intravenous
immunoglobulins which have been shown to reduce the length of symptoms
and also significantly reduce the rate of cardiac complications.
A 10-year-old boy has recently been diagnosed with type-1 diabetes. He
wants to discuss the type of treatment regimen which would best suit
him. He does not particularly like giving the injections but has got
used to it and would like to have as tight a control as possible. However,
he is very unwilling to give himself any injections while at school as he is
embarrassed in front of his friends.
What treatment regimen would be best suited?
A. Diet control alone
B. Insulin pump
C. Multiple dose insulin regimen
D. Three daily injection insulin regimen
E. Twice daily injection insulin regimen
D – Three daily injection insulin regimen
There are various insulin regimens and different children are suited to different
forms. The traditional two-injection regimen is still used especially in young children.
Its advantage is the need for only two injections per day but it is often hard
to achieve tight control without experiencing hypoglycaemic events. It is also
not as useful when children or young adults are not eating at regular times of
the day or are exercising.
In this case, a three-injection regimen would be most suited. This is when longacting
insulin is given at night with mixed insulin (short and long acting) given
in the morning and rapid acting insulin given at teatime to cover the evening
meal. It allows for tighter control than a two-injection regimen and allows the
child not to give any injections at school. However, with different insulin preparations
being given at different times, confusion can occur and the flexibility
which comes with a multiple-injection regimen is not present.
The multiple-injection regimen (‘basal-bolus’) has become very popular. It consists
of an injection in the evening of long-acting insulin (e.g. glargine) which
gives a background level over 20–24 hours. Short-acting insulin whose action
lasts approximately 4 hours (e.g. novarapid) is then given with meals and
snacks during the day. Usually 50% of the child’s calculated insulin requirement is given as the long-acting form. Carbohydrate counting is used to determine
how much short-acting insulin is needed with each meal. The advantage of
this regimen is that when compliance is good the glycaemic control can be a
lot tighter and they are less likely to have episodes of hypoglycaemia compared
with the two- or three-injection regimen. It also allows the child to eat at
anytime and makes glycaemic control easier during an intercurrent illness.
The disadvantages include having to inject more frequently, as well as injecting
when they are at school
A 9-month-old girl presents with shortness of breath. She started having a
‘runny nose’ 24 hours ago and her mother says she felt hot to touch.
She now has a high-pitch cough. Examination reveals bilateral crepitations
and a wheeze.
Which of the following organisms is most likely to be responsible?
A. Adenovirus
B. Influenza virus
C. Mycoplasma
D. Parainfluenza virus
E. Respiratory syncitial virus
E – Respiratory syncitial virus
Extra respiratory noises include wheeze (expiratory noise caused by lower
airway obstruction) and stridor (inspiratory noise caused by upper airway
obstruction).
This child has bronchiolitis which is most commonly caused by the respiratory
syncitial virus. The other organisms given here do cause bronchiolitis but far
less commonly. Diagnosis is confirmed by nasopharyngeal aspirate. Bronchiolitis
is very common, especially during the autumn and winter months. These children
present with respiratory distress, coryza, fever, hyperinflation, widespread
crackles and a wheeze. Management is supportive with adequate oxygen and
hydration. Rarely some children will need intensive management with ventilatory
support. Antibiotics, steroids and bronchodilators are not effective.
Children at high risk of severe bronchiolitis include ex-premature infants with
chronic lung disease, infants with congenital heart disease and immunocompromised
children.
A 5-year-old boy presents to the emergency department as his mum has
noticed he is puffy around his eyes and ankles. He is normally fit and
well but has been lethargic over the last few days and has vomited on a
few occasions.
Urine dipstick reveals:
Protein 4þ
Leucocytes Negative
Nitrites Negative
A preliminary diagnosis of nephrotic syndrome is made.
Which of the following results would establish this as the correct diagnosis?
A. Albumin 20 g/L
B. Blood pressure 150/80
C. Microscopic haematuria
D. Urea 9.0
E. Weight gain .10%
A – Albumin 20
Nephrotic syndrome is not a disease as such but a kidney disorder. It is characterized
by a triad of proteinuria (.0.05 g/kg/day), hypoalbuminaemia (usually
,30 g/L) and oedema. Hyperlipidaemia is also often present.
Oedema is characteristically periorbital but occurs throughout the body and is
more pronounced in the morning. Children can develop transudate ascites
and are at risk of spontaneous pneumococcal peritonitis. They are at risk of infection
due the renal loss of IgG proteins. Other symptoms include abdominal pain,
diarrhoea, vomiting and lethargy. Renal function is usually normal but renal
failure can develop in a few cases. Blood pressure must be monitored as it can
be raised. Haematuria is occasionally seen in nephrotic syndrome but is not a
diagnostic requirement. Affected children are often hypovolaemic despite
being oedematous. Diuretics and intravenous albumin may be necessary if
fluid retention is severe. Patients are also placed on prophylactic penicillin due
to the susceptibility to infection from the loss of IgG. Nephrotic syndrome in
children often responds well to steroids especially if it is a minimal change
disease.
Causes of nephrotic syndrome include glomerulonephritis, congenital nephrotic
syndrome, systemic lupus erythematosus, Henoch–Scho¨nlein purpura and
certain drugs such as penicillamine, non-steroidal anti-inflammatory drugs
(NSAIDs) and paracetamol. The majority of children with nephrotic syndrome
(90%) have minimal change glomerulonephritis.
Remember the rule of thirds for prognosis regarding minimal change
glomerulonephritis:
† One-third have only a single episode
† One-third develop occasional relapses
† One-third have frequent relapses, which stop before adulthood
