Paeds 2 🦠🩸♋️ Flashcards
Infectious disease, Skin and allergy, Haematology, Oncology
1
Q
what is Kawasaki disease?
A
a type of vasculitis - predominately seen in children
leads to inflammation of the coronary arteries and medium/large vessels
2
Q
What is the cause of Kawasaki disease?
A
largely unknown
infectious cause
autoimmune reaction
genetic predisposition
3
Q
What are the features of Kawasaki disease?
A
CRASH and burn
C - conjunctivitis with limbus sparing
R - rash - all body parts polymorphous - then flakes (desquamation)
A - adenopathy - enlarged lymph nodes (cervical)
S -strawberry tongue + red and cracked lips
H - hands and feet swollen with rash.
high grade fever for more than 5 days which is characteristically resistant to antipyretic.
4
Q
How is Kawasaki managed?
A
IVIG intravenous immunoglobulin
high dose aspirin (one of the few indications for the use of aspirin in children, due to the risk of Reyes syndrome aspirin is usually contraindicated in children)
Echo - to screen for coronary artery aneurysms.
5
Q
What is an important complication of Kawasaki disease?
A
coronary artery aneurysm
ischaemia of the heart muscle
MI
6
Q
What would you see from blood tests of Kawasaki? (3)
A
anaemia increased WBC more immature WBC increased ESR and CRP increased liver enzymes
7
Q
What is the incubation period of measles?
A
10-14 days
8
Q
What symptoms do you get during the prodromal period of measles and how long does it last?
What are the symptoms following the prodromal period?
A
it lasts for usually 3 days
cough
conjunctivitis
coryza
Koplik spots - spots on mucus membrane
following the prodromal period a rash occurs: starts on the face and behinds ears and then transfers to the whole body.
A desecrate maculopapular rash becoming blotchy and confluent.
in the immunocompromised - a rash is often not present
9
Q
what are the investigations of measles?
A
IgM antibodies can be detected within a few days of rash onset
10
Q
what is the management of measles?
A
mainly supportive
admission may be considered in immunosuppressed or pregnant patients
notifiable disease –> inform public health
11
Q
What are the complications of measles (3)
A
pneumonia diarrhoea encephalitis (typically occurs 1-2 weeks following the onset of the illness otitis media (MC) febrile convulsions corneal ulceration myocarditis increased incidence of appendicitis
subacute sclerosing pan-encephalitis (very rare, may occur 5-10 years following infection of infant under 2)
12
Q
How is it managed if an unvaccinated child comes into contact with measles ?
A
if child is not vaccinated and comes into contact with measles then the MMR vaccine should be given within 72 hours.
13
Q
what virus is chicken pox caused by?
A
varicella zoster
14
Q
How is chicken pox transmitted? When is someone with chickenpox infective?
A
respiratory route
or skin to skin contact
infectivity = 24 hours before rash until 5 days after the rash first appeared (when blisters have crusted over)
15
Q
what is the incubation period of chicken pox?
A
10-21 days
16
Q
What are the clinical features of chicken pox?
A
fever initially
itchy rash starting on head trunk before spreading
initially macular then papular then vesicular then scab over
systemic upset is usually mild
17
Q
what is the management of chicken pox?
A
keep cool, trim nails
calamine lotion
school exclusion (infective until lesions are dry and crusted over - usually around 5 days after onset of the rash
in immunocompromised patients and new born consider varicella zoster immunoglobulin, if chicken pox develops then acyclovir should be considered
18
Q
What are the complications of chicken pox? (3)
A
common complication is secondary bacterial infection of the lesions - NSAIDs may increase this risk
rare complications include pneumonia, encephalitis, disseminated haemorrhage chickenpox, arthritis, nephritis and pancreatitis
19
Q
what is rubella caused by?
A
toga virus - spread by respiratory route
20
Q
What are the clinical features of rubella? (3)
A
prodrome - low grade fever
rash - maculopapular, initially on the face/behind ears before spreading to the whole body usually fades by the 3-5 day
lymphadenopathy: suboccipital and post auricular
21
Q
What are the complications of rubella? (3)
A
arthritis
thrombocytopenia
encephalitis
myocarditis
can cause severe damage to the foetus (congenital rubella syndrome)
22
Q
what is diphtheria caused by?
A
gram positive bacterium Corynebacterium diptheriae
23
Q
What does diphtheria infection cause? Why is it rare in the UK?
A
local disease with membrane formation affecting the nose, pharynx or larynx or systemic disease with myocarditis and neurological manifestations
immunisations have eradicated disease in the UK
24
Q
What is Staphylococcal scalded skin syndrome?
A
Staphylococcal scalded skin syndrome (SSSS) is a rare, severe, superficial blistering skin disorder which is characterised by the detachment of the outermost skin layer (epidermis). This is triggered by exotoxin release from specific strains of Staphylococcus aureus bacteria.
The blistering of large areas of skin gives the appearance of a burn or scalding, hence the name staphylococcal scalded skin syndrome. SSSS is often used interchangeably with the eponymous name Ritter von Ritterschein disease (Ritter disease), particularly when it presents in newborn children.
nikolsky sign - The sign is present when slight rubbing of the skin results in exfoliation of the outermost layer.
25
how is scalded skin syndrome managed? (3)
IV anti-staphylococcal antibiotic, analgesia and monitoring fluid balance
26
what is whooping cough caused by?
gram negative bacterium bordetella pertussis
27
what are the clinical features of whooping cough?
2-3 days of coryza precede the onset of:
coughing bouts - usually worse at night and after feeding, may be ended by vomiting and associated central cyanosis
insipiratory whoop - not always present - caused by force inspiration against a closed glottis
infants may have spells of apnoea
persistent coughing can cause subjconjunctival haemorrhages or even anoxia leading to syncope and seizure
symptoms may last 10-14 weeks and is more severe in infants
there is marked lymphocytosis
28
what is the diagnostic criteria for whooping cough? (4)
if a person has an acute cough for more than 14 days or more without another apparent cause and has one or more of the following features
paroxysmal cough
inspiratory whoop
post-tussive vomiting
undiagnosed apnoeic attacks in young infants
29
how is whooping cough diagnosed?
nasal swab culture to look for bordetella pertussis
| PCR and serology are now increasingly used
30
how is whooping cough managed? (3)
under 6 months if it suspected then admit them
it is notifiable disease
an oral macrolide - e.g. clarithromycin or azithromycin
clarithromycin for infants less than 1 month
azithromycin or clarithromycin for children aged 1 month or older and non-pregnant
household contacts should be offered prophylaxis
31
What are the complications of whooping cough? (3)
subconjunctival haemorrhage
pneumonia
bronchiectasis
seizures
32
what are the stages of whooping cough?
catarrhal phase is the first stage (runny nose stage - typically lasts one to two week
paroxysmal stage - duration is highly variable lasting from one to ten weeks, intense drawn out bouts of coughing during this phase. Attacks tend to be more frequent at night
convalescent phase - the third stage - this can last for week to months and a chronic cough that becomes less paroxysmal (fewer sudden outbursts of coughing)
33
what is tuberculosis caused by?
mycobacterium tuberculosis
34
What is primary TB? Explain the pathophysiology behind primary TB.
a non-immune host is exposed to tuberculosis
A small lung lesion known as a Ghon focus develops 3 weeks following initial infection
The Ghon focus is composed of tubercle-laden macrophages.
The combination of a Ghon focus and a hilar lymph node is known as a Ghon complex.
In immunocompetent people this initially heals by fibrosis and calcification. Those who are immunocompromised may develop disseminated disease (miliary tuberculosis)
35
what is secondary TB?
if the host becomes immunocompromised the initial infection may become reactivated
Reactivation usually occurs in the apex of the lungs and may spread locally or to more distant sites
causes of immunocompromise - HIV, immunosupressants, malnutrition
36
Where might extra pulmonary infection of TB occur? (3)
```
CNS - tuberculosis meningitis - the most serious complication
vertebral bodies (potts disease)
cervical lymph nodes - scrofuloderma
renal - WBC in urines
addisons disease
GI tract
```
37
How do you test for TB?
Mantoux tuberculin skin test
this test just shows that they have been exposed to TB not whether it is latent or active
interferon gamma release assay
positive results - do xray
Acid-fast smear and mycobacterial culture to differentiate active from latent tb)
labs of sputum
38
how do you treat latent TB?
isoniazid for 9 months
39
How do you treat active TB? Give a side effect of each medication.
```
RIPE
Rifampicin
isoniazid
pyrazinamide
ethambutol
```
40
what are the common causes of meningitis in neonates up to 3 months?
group B streptococcus (usually acquired from the mother at birth)
E.coli and other gram negative organisms
listeria monocytogenes
41
What are the common causes of meningitis in infants? (3)
```
Neisseria meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
Haemophilus influenzae
```
42
what are the common causes of meningitis in children older than 6?
```
Neisseria Meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
```
43
What are some viral causes of meningitis? (3)
enterovirus
EBV
adenovirus
mumps
44
What are the early signs of meningitis? (5)
```
headache
temp
cold hands and feet
discolored skin (blotchy)
poor feeding
irritability
hypotonia
drowsiness
```
45
What are the signs of meningitis? (5)
```
neck stiffness
kernigs sign
Brudzinskis sign
photophobia
bulging fontanelle
arched back
seizure
shock: increased HR, RR, cap refill and BP decrease
```
non blanching purpuric rash
46
How is meningitis diagnosed? (4)
```
Septic screen
blood - coagulation screen, LFT, PCR, rapid antigen test, blood gas
CT head
Culture - throat swab, urine and stool
TB - mantoux test, CXR
LP
```
47
What are the contraindications to lumbar puncture? (3)
```
focal neurological signs
Papillodema
significant bulging of the fontanelle
DIC
signs of cerebral herniation
```
48
How is meningitis managed in children? (3)
antibiotics
if less than 3 months - IV amoxacillin and cefotaxime
if older than 3 months - IV ceftriaxone/cefotaxime
Dexamethasone in children 3 months or older with suspected or confined bacterial meningitis and LP indicates (should be given before or with abx)
Fluids
Cerebral monitoring
Public health notification
prophylaxis of contacts with ciprofloxacin
49
What would the characteristics of the CSF be if it was bacterial meningitis?
cloudy/turbid
Elevated opening pressure
low glucose
high protein
white cells 10-500 polymorphs
50
What would the CSF show if there is viral meningitis?
clear CSF
Normal/elevated opening pressure
60-80% of plasma glucose
protein is normal/raised
white cells 15-1000 lymphocytes
51
What is erythema infectiosum and what is it caused by?
slapped cheek syndrome
| Parvovirus B19
52
What are the clinical features of slapped cheek syndrome?
mild fever
rose-red rash makes the cheeks appear bright red
the rash may spread to the rest of the body but will spare the palms and soles.
rash peaks after a week and then fades
other presentations:
- asymptomatic
- pancytopaenia in immunocompromised patients
aplastic crisis e.g sickle cell disease
53
what is the treatment for slapped cheek syndrome?
most children recover and need no specific treatment
54
What is impetigo?
a superficial bacterial skin infection
it may be a primary infection or a complication of an existing skin condition such as eczema, scabies or insect bites.
It is common in children in warm weather
55
what is impetigo caused by?
staphylcoccus aureus or streptococcus pyogenes
56
what are the common locations that impetigo occur?
anywhere on body but tend to occur on face, flexures and limbs not covered by clothing
57
What are the features of impetigo?
golden, crusted skin lesions typically found around the mouth
58
What are the three types of impetigo?
Non-bullous/ cruted impetigo
tiny blisters that eventually burst and leave small wet patches of red skin that may weep fluid, gradually they crust over
Bullous impetigo causes larger fluid containing blisters that look clear, then cloudy. they are more likely to stay longer without bursting
Ecthyma - punched out ulcers with yellow crust and red edges
59
What is the management for limited, localised impetigo?
first line - hydrogen peroxide 1% cream
| second line - topical fusidic acid or mupirocin (MRSA)
60
what is the management for extensive impetigo?
oral flucloxacillin
or if allergic to penacillin - erythromycin
children should be excluded from school until lesions are crusted and healed or 48 hours after commencing antibiotic treatment.
61
what is scarlet fever caused by?
group A haemolytic streptococci
| usually streptococcus pyogenes
62
what is the peak incidence of scarlet fever?
2-6 years
| peak incidence at 4 years
63
What is the classical presentation of scarlet fever?
fever that typically lasts 24 to 48 hours
malaise, headache, nausea/vomiting
sore throat
strawberry tongue
rash - fine punctate erythema (pinhead) which generally appears first on the torso and spares the palms and soles
the rash is often described as having a rough sandpaper texture
desquamation occurs later in the course of the illness
64
how is scarlet fever diagnosed?
throat swab
65
How is scarlet fever treated?
oral penicillin V for 10 days
patients with penicillin allergy should be given azithromycin
scarlet fever is a notifiable disease
children can return to school 24 hours after starting antibiotics
66
What are the complications of scarlet fever? (3)
otitis media
rheumatic fever (usually 20 days after infection )
acute glomerularnephritis (typically 10 days after infections)
invasive complications rare but are dangerous (bacteraemia , meningitis, necrotising fasciitis)
67
What is mumps caused by?
RNA paramyxovirus
68
How is mumps spread and what is the infective period?
- spread by droplets
respiratory tract epithelial cells → parotid glands → other tissues
- infective 7 days before and 9 days after parotid swelling starts
- incubation period = 14-21 days
69
What are the clinical features of mumps? (3)
fever
malaise
muscular pain
parotitis (earache, pain on eating) unilateral initially then becomes bilateral in 70%
70
how is mumps managed? (2)
rest
paracetamol for high fever and discomfort
it is a notifiable disease
School exclusion for 5 days from onset of swollen glands
71
What are the complications of mumps? (3)
orchitis - uncommon in pre-pubertal males but occurs in 25-35% of post-pubertal males - typically occurs 4-5 days after parotitis
hearing loss - usually unilateral and transient
meningoencephalitis
pancreatitis
72
what causes toxic shock syndrome?
toxin-producing staphylococcus aureus (TSST-1 superantigen toxin) and group A streptococci
73
What is toxic shock syndrome characterised by? (5)
fever (>38.9)
hypotension (sys <90)
diffuse erythematous, macular rash
can also cause organ dysfunction including:
mucositis
GI - vomiting/diarrhoea
renal impairment
liver impairment
clotting abnormalities and thrombocytopenia
CNS - altered consciousness
74
How is toxic shock syndrome treated?
areas of infection should be surgically debrided
antibiotics - clindamycin + benzylpenicillin/vancomycin
IVIG to neutralise circulating toxin
75
What causes encephalitis ?
Inflammation if the brain parenchyma (MC HSV)
delayed brain swelling following a disordered neuroimmunological response to an antigen, usually a virus (post-infectious encephalopathy e.g. following chicken pox)
a slow virus infection such as HIV infection or subacute sclerosing pan encephalitis following measles
76
How do you treat encephalitis caused by HSV?
high dose acyclovir
77
what are the routes HIV can be passed to children? (3)
mother-to-child transmission - during pregnancy, and delivery or through breast feeding.
children may also be infected by infected blood products, contaminated needle or through sexual abuse.
78
how is HIV diagnosed in children?
in children over 18 month, HIV is diagnosed by detecting antibodies to the virus.
prior to 18 months - they will have the mothers antibodies which suggests exposure but not deffo infection
before 18months diagnosis is by HIV DNA PCR
79
what are the clinical features of HIV in infants? (3)
a proportion of HIV infected infants progress rapidly to symptomatic disease and onset of AIDs in the first year of life
some children remain asymptomatic for months or years
clinical presentation depends on degree of immunosuppression
mild immunosupresion: lymphadenopathy or parotitis
moderate - recurrent bacterial infection
severe - pneumocystis jiroveci pneumonia (PCP), severe FTT, encephalopathy and malignancy, although this is rare in children
80
How is HIV in children treated? What drug is given prophylactically and why?
antiretroviral therapy (ART)
prophylaxis against PCP with co-trimoxazole
immunisation
81
what is hand foot and mouth disease caused by?
most commonly coxsackie A16 and enterovirus 71
82
What are the clinical features of hand foot and mouth disease?
mild systemic upset - fever, sore throat
oral ulcers
followed later by vesicles on the palms and soles of feet
83
how is hand foot and mouth disease managed?
symptomatic treatment only
| do not need to be excluded from school
84
what is eczema?
inflammatory skin condition characterized by dry, pruritic skin with chronic relapsing course.
85
What are the risk factors for eczema? (4)
```
age <5 years
fam history of eczema
allergic rhinitis
asthma
active or passive exposure to smoke
```
86
What are the clinical features of eczema? How may infants and children present?
pruritus
xerosis (dry skin)
infants usually show involvement of the cheeks, forehead, scalp and extensor surfaces.
Children typically have involvement of flexures, particularly the wrists, ankles, antecubital and popliteal fossa.
Erythema is often noted in the acute flares
scaling in acute flares
papules
87
how is eczema treated?
avoid irritants
1st line - emollients
if not controlled with emollients intermittent topical corticosteroids can be added
if infection suspected add oral antibiotic
if persistent pruritus - antihistamine or doxepin
88
what is stevens-johnsons syndrome?
Stevens-Johnson syndrome is a severe systemic reaction affecting the skin and mucosa that is almost always caused by a drug reaction.
89
what can cause stevens-johnsons syndrome? (3)
• penicillin
• sulphonamides
• lamotrigine, carbamazepine, phenytoin
• allopurinol
• NSAIDs
• oral contraceptive pil
90
What is the difference between stevens-johnsons syndrome and toxic epidermal necrolysis
SJS - <10% of total body surface involvement - any of the causes
TEN - >30% of total body surface involvement - drug related
91
what are the symptoms of stevens-johnsons syndrome? (3)
sudden onset of a maculopapular rash with characteristic target lesions
Mucosal involvement
Nikolsky sign
erosions or ulcerations of the eyes, lips, mouth, pharynx, oesophagus, GI tract, kidneys, liver, anus, genital area or urethra.
eye involvement may include conjunctivitis, corneal ulceration and uveitis.
92
What investigations should you order for stevens-johnson syndrome? (3)
```
skin biopsy - will show keratinocyte apoptosis with detachment of the epidermal layer of the skin from the dermal layer
blood cultures - will be negative
FBC
glucose
magnesium
phosphate
urea
LFTs
ABG
```
93
How is stevens-johnsons syndrome managed? (4)
withdraw causative agent
prophylactic anticoagulation (enoxaparin)
PPI (omeprazole)
Dressing, topical antibacterials and emollients
ophthalmological examination
IV fluids
pain relief
94
what is allergic rhinitis?
inflammatory disorder of the nose where the nose becomes sensitized to allergens such as house dust mites and grass, tree and weed pollens
95
what are the different classifications of allergic rhinitis ?
- seasonal: symptoms occur around the same time every year. Seasonal rhinitis which occurs secondary to pollens is known as hay fever
- perennial: symptoms occur throughout the year
- occupational: symptoms follow exposure to particular allergens within the work place
96
What are the clinical features of allergic rhinitis? (3)
```
sneezing
nasal pruritus
eye redness
nasal congestions
rhinorrhoea
```
97
how is allergic rhinitis managed?
oral antihistamine plus allergen avoidance
intranasal antihistamine plus allergen avoidance
2nd line - montelukast
if severe an intranasal corticosteroid can be added
98
what is urticaria?
it is also known as hives
a skin condition characterised by erythematous, blanching, oedematous, non painful, pruritic lesions that typically resolves within 24 hours and leave no residual symptoms
chronic - episodes lasting for more than 6 weeks.
99
what is angioedema?
swelling involving the deeper layers of the sub-dermis and occurs in association with urticaria. It can also occur in the absence of urticaria
100
what causes urticaria and/or angio-oedema?
usually caused by IgE-mediated reaction (T1 hypersensitivity reaction). most common agents involved are drugs (NSAIDs, penicillins, muscle relaxants, diuretics) and foods (milk, eggs, peanuts, tree nuts, shellfish)
101
What are the symptoms of urticaria and angioedema? (3)
```
erythematous oedematous lesions
pruritus
resolved within 24 hours
swelling of face, tongue or lips
blanching lesions
```
102
What investigations would you consider for urticaria? (5)
```
FBC
complete metabolic panal
urinalysis
ESR
CRP
anti-IgE receptor antibodies
TSH
skin biopsy
```
103
what is the definition of anaemia in neonates, in children from 1 to 12 months and children 1 year to 12 years?
neonates - Hb less than 140g/L
1 month to 12 months - HB less than 100g/L
1 year to 12 years - Hb less tha 110g/L
104
what can anaemia result from?
reduced red cell production, increased red cell destruction (haemolysis)
blood loss
105
what are the clinical features of iron deficiency anaemia in children? (2)
usually asymptomatic until the HB drops below 60-70g/L
as it gets lower: children tire easily, young infants feed more slowly
they may appear pale
106
how is iron deficiency anemia diagnosed?
a low haemoglobin and haematocrit level
MCV - low
MCH - the mean Hb mass per cell - is low
low MCV and low MCH = hypochromic anemia
there will be a decrease serum iron
the total iron-binding capacity will be increased
transferrin saturation will be less than 16%
there will be a low serum ferritin
107
what can cause iron deficiency anemia?
inadequate dietary intake
poor intestinal absorption - coeliac disease
increased iron requirement - children have increase iron demands during rapid periods of growth
108
How is iron deficiency anaemia managed? How long is treatment give for?
dietary advice and oral iron supplement
ferrous sulfate
give until Hb back to normal + 3 months
109
what is red cell aplasia?
complete absence of red cell production
110
what can cause red cell aplasia? (3)
- congenital
- transient erythroblastopenia of childhood
- parvovirus B19 infection - only causes red cell aplasia in children with inherited haemolytic anaemia
111
What are the diagnostic cues of red cell aplasia? (3)
low reticulocyte count despite low Hb
normal bilirubin
negative direct antiglobulin test (coombs test)
absent red cell precursors on bone marrow examination
112
What is diamond-blackfan anaemia and how is it treated?
rare congenital type of bone marrow failure that causes anaemia and is characterised by pure red cell aplastic and associated with congenital bone abnormalities
treated with oral steroids and monthly red blood cell transfusions are given to children if they are steroid unresponsive
113
What is transient erythroblastopenia of childhood?
it is triggered by viral infections and has the same haematological features as diamond-blackfan anemia
usually recovers in weeks
114
What are some common causes of haemolytic anaemia in children? (3)
- red cell membrane disorders (hereditary spherocytosis)
- red cell enzyme disorders (G6PD deficiency)
- haemoglobinopathies (abnormal haemoglobulins e.g. beta thalassaemia and sickle cell disease)
115
What does haemolysis lead to? (3)
anemia
hepatomegaly and splenomegaly
increased blood levels of unconjugated bilirubin
excess urinary urobilinogen
116
What are some diagnostic cues to haemolysis? (3)
raised reticulocyte count on blood film
unconjugated bilirubinemia and raised urinary urobilinogen
abnormal appearance of red cells on blood film
if there is an immune cause the there would be a positive direct antiglobulin
increased red blood cell precursors in bone morrow?
LDH
117
what is hereditary spherocytosis?
it is an inherited abnormality of the RBC and causes defects in the structural membrane proteins
It is inherited dominantly in 75% of people
The abnormal cells are spherical and are removed by the spleen, resulting in reduced red-cell life span
118
what is the presentation of hereditary spherocytosis? (3)
pallor
FTT
jaundice (due to increased levels of unconjugated bilirubin
splenomegaly
*aplastic crisis may be precipitated by parvovirus infection.
119
What are the investigations for hereditary spherocytosis? (3)
FBC - Hb may be normal or reduced, MCHC (average conc of Hb in blood cell) may be elevated
Reticulocyte count - will be elevated
blood smear - will show spherocytes and may also show pincer cells (due to protein band-3 deficiency)
there will be elevated unconjugated bilirubin
120
how is hereditary spherocytosis managed?
less than 28 days - supportive care +/- a RBC transfusion, sometimes folic acid may be added
If the neonate has jaundice use phototherapy or exchange transfusion
In children older than 28 days with severe HS :
supportive care and RBC transfusion for symptomatic anaemia until a time when a splenectomy is deemed appropriate (wait until at least 6 years of age)
also give folic acid supplementation
Mild/moderate HS - generally just supportive care
folic acid can be added in patients with severe haemolysis
121
Why does glucose 6 phosphate dehydrogenase deficiency cause anaemia?
G6PD is essential for preventing oxidative damage to red blood cells.
Red cells lacking G6PD are susceptible to oxidant induced haemolysis.
So when there is oxidative stress haemolysis patients are usually asymptomatic until oxidative stress
122
What is the inheritance pattern of G6PD deficiency? What populations is G6PD seen in?
x linked recessive
* it is common among populations originating from parts of the world where malaria is or was common
(africa, asia, mediterranean and the Middle East)
123
What are the things than can cause oxidative stress and should be avoided in patients with G6PD deficiency? (4)
metabolic acidosis
Henna
foods and drinks (fava beans, red wine, soy products)
painkillers - aspirin and ibuprofen
infections - viral hepatitis, pneumonia
certain medication - quinidine, primaquine, chloroquine, ciprofloxacin
124
What is the presentation of G6PD deficiency? (3)
```
neonatal jaundice is often seen
intravascular haemolysis
gall stones
splenomegaly may be present
pallor
dark urine
```
125
What investigations would you perform for G6PD deficiency and what would they show? (3)
FBC - anaemia and normochromic red cell index
reticulocyte count - typically elevated
Urinalysis - haemoglobinuria
unconjugated bilirubin will be elevated
lactate dehydrogenase will be high
blood smear will show anisocytosis, abnormal forms and bite cells
blood film will show heinz bodies
126
how is G6PD deficiency treated?
in acute haemolysis:
supportive care plus folic acid
If there is severe anaemia - blood transfusion
In neonates with prolonged jaundice - phototherapy
127
what is the inheritance pattern of sickle cell anaemia?
autosomal recessive
128
what is sickle cell anaemia and what causes it?
it is caused by a single gene defect in the beta chain of haemoglobin which results in production of sickle haemoglobin (HbS)
polymerisation of sickle Hb in RBCs can be triggered by hypoxia and acidosis which causes cells to become rigid and deform into a sickle shape. These deformed cells may cause vaso-occlusion in the small vessels or adhere to vascular endothelium - this slows blood flow. These deformed cells are also prone to haemolysis, which contributes to anaemia.
129
What are the clinical features of sickle cell anaemia? (5)
anaemia - all have moderate - - anaemia with clinically detectable jaundice from chronic haemolysis
- increased susceptibility to infection from encapsulated organisms such as pneumococci and haemophilus influenzae. Also increased risk of osteomyelitis caused by salmonella and other organisms
- Painful Crisis - vaso-occlusive crisis - pain may affect many organs of the body with varying frequency and severity - pain can affect bones in limbs and spine
- Dactylitis - swollen hands and feet
- acute anaemia (sudden drop in Hb), haemolytic crisis, aplastic crisis (parvo virus b19 infection), splenic sequestration crisis (sudden splenic enlargement - abdo pain and circulatory collapse from accumulation of sickled cells in the spleen)
- jaundice
- pallor
- tachycardia
- lethargy
- failure to thrive
- Priapism (prolonged erection)
- splenomegaly
- acute chest syndrome
130
What are the long term problems of sickle cell anaemia? (3)
```
short and delayed puberty
stoke and cognitive problems
cardiac enlargement
renal dysfunction
gall-stones
leg ulcers
```
131
What investigations would you perform for sickle cell? (4)
```
heel prick test
Hb electrophoresis
blood smear - presence of nucleated red blood cells, sickle-shaped cells and howell jolly bodies
increase reticulocytes
FBC will show anaemia
```
132
How do you manage sickle cell anaemia? (5)
avoid precipitants of crises (cold weather, hypoxia, stress, dehydration)
Pneumococcal immunisation, antibiotic prophylaxis with phenoxymetylpenicillin
pain management
Bld transfusions
For Crisis
- pain relief, oxygen, hydration
Prevention of recurrent crisis:
hydroxycarbamide (increases fetal Hb production and protects against further crisis)
Crizanlizumab (targets P-selectin. P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets. It prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.)
Bone marrow transplant if severe
133
What are some causes of normocytic anemia? (3)
```
anaemia of chronic disease
chronic kidney disease
aplastic anaemia
haemolytic anaemia
acute blood loss
```
134
what is beta-thalassaemia? What is the inheritance pattern?
it is an inherited microcytic anaemia caused by mutations of the beta-globin gene on chromosome 11 leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis
it is an autosomal recessive condition
135
What is the presentation of beta thalassaemia? (4)
Will not present until 3-6 months of age when fetal Hb is replaced by adult Hb
```
jaundice
severe anaemia
failure to thrive
hepatosplenomegaly
delayed puberty
facial - maxillary overgrowth, skull bossing
```
if they have beta-thalassaemia trait - asymptomatic
136
What investigations would you perform for beta thalassaemia? (5)
```
FBC
Blood smear
reticulocyte count - raised
Abdo uss
Hb analysis
LFTs
Skull x-ray (widening of diploeic space)
- microcytic anemia
```
there would be no HbA but increased HbA2
137
how would you treat beta-thalassaemia? (3)
Transfusions
iron monitoring and chelation (desferrioxamine) - this is because people having regular transfusions can have iron overload
they may need a splenectomy
they may also need a stem cell transplant if severe
138
What is fanconi syndrome and what are the symptoms? (3)
generalised proximal tubular dysfunction
```
polydipsia and polyuria
salt depletion and dehydration
hyperchloraemic metabolic acidosis
rickets
FTT/poor growth
```
139
what kind of anemia is fanconi anaemia?
| how is it inherited?
aplastic
| AR
140
What are the features of fanconi anaemia? (5) what are these patients at higher risk of?
short stature
abnormal radii and thumbs
renal malformation
pigmented skin lesions (cafe au lait spots)
bone marrow failure which becomes apparent at 5-6 years.
Neonates with Fanconi anaemia nearly always have abnormal blood count.
they have an increased risk of acute myeloid leukaemia
141
what is the treatment for fanconi anaemia?
bone marrow transplant
142
What are the main causes of haemolytic anaemia in the new born? (4)
immune (haemolytic disease of the newborn)
red cell structural disorders (hereditary spherocytosis)
red cell enzyme disorders (G6PD deficiency )
Haemoglobinopathies
143
what is haemolytic disease of the new born?
it is immune haemolytic anaemia
it is due to antibodies against blood group antigens
The mother makes antibodies against the baby's blood group and these antibodies cross the placenta into the baby's circulation causing fetal or neonatal anaemia
144
how should rhesus D negative women be treated?
anti D immunoglobulin at 28 weeks and following the delivery of a rhesus positive infant or at 40 weeks
145
What is the basic pathophysiology of rhesus negative mothers and why does it only affect second pregnancy?
along with the ABO system the Rhesus system is the most important antigen found on red blood cells. The D antigen is the most important antigen of the rhesus system
around 15% of mothers are rhesus negative (Rh -ve)
if a Rh -ve mother delivers a Rh +ve child a leak of fetal red blood cells may occur
this causes anti-D IgG antibodies to form in mother
in later pregnancies these can cross placenta and cause haemolysis in fetus
this can also occur in the first pregnancy due to leaks
146
what tests should be performed for all babies born to rhesus negative mother?
all babies born to Rh -ve mother should have cord blood taken at delivery for FBC, blood group & direct Coombs test
Coombs test: direct antiglobulin, will demonstrate antibodies on RBCs of baby
Kleihauer test: add acid to maternal blood, fetal cells are resistant
147
What can the affected fetus from a rhesus negative mother present with? (3)
```
oedematous (hydrops fetalis, as liver devoted to RBC production albumin falls)
jaundice, anaemia, hepatosplenomegaly
heart failure
kernicterus (bilirubin-induced neurological damage)
treatment: transfusions, UV phototherapy
```
148
What is haemophilia? What are the different types and the inheritance pattern?
it is a bleeding disorder
usually inherited - X-linked recessive disorder of coagulation
```
Haemophilia A is due to a deficiency of clotting factor VIII
Haemophilia B (christmas disease) due to a lack of clotting factor IX
```
there is also acquired haemophilia - may have autoimmune-related aetiology with no inheritance pattern
149
What are the clinical features of haemophilia? (4)
recurrent or severe bleeding - spontaneous or trauma-induced bleeding in joints and muscles; excessive bleeding after surgery, dental procedures or trauma, recurrent nasal/oral mucosa bleeding; easy bruising, GI bleeding, haematuria
bleeding into muscles - MSK bleeding is the hallmark of haemophilia
hemarthrosis - bleeding in joint cavity
haematomas
150
What investigations would you perform for haemophilia? (4)
FBC
APTT - activated partial thromboplastin time will usually prolonged
plasma factor VIII and IX assay - levels of factor VIII and IX are used to establish diagnosis and severity
prothrombin time (PT) normal
bleeding time - normal
LFTs
151
what are common causes of bruising in neonates? (2)
coagulation disorders (hemorrhagic disease of the new born, haemophilia)
Thrombocytopenia (maternal alloimmune thrombocytopenia)
birth trauma and congenital infections e.g. rubella
152
what are common causes of bruising in infants? (3)
accidental injury
non-accidental injury
coagulation disorders
thrombocytopenia (ITP, congenital infection)
153
what are common causes of bruising in older children?
accidental injury
non-accidental injury
coagulation disorders (haemophilia, VWD, liver disease)
thrombocytopenia - ITP, acute lymphoblastic leukaemia, meningococcal septicaemia, congenital infection
154
What is von willebrand's disease? What is its inheritance?
most common inherited bleeding disorder
there is variable penetrance and phenotypic expression
it characteristically behaves like a platelet disorder
it is due to either quantitative or qualitative abnormality of von willebrand's factor
Autosomal dominant (apart from type 3)
155
What is the role of vWF?
it promotes platelet adhesion and aggregation at sites of endothelial damage
156
what are the different types of von willebrand's disease?
type 1: partial reduction in vWF
type 2: abnormal form of vWF
type 3: total lack of vWF (AR)
157
What are the symptoms of von willebrand's disease? (3)
```
bleeding from minor wounds
post operative bleeding
Epistaxis
Prolonged bleeding from mucosal surfaces (dental)
fam history of bleeding
easy or excessive bruising
menorrhagia
```
158
What investigations would you perform for von willebrand's disease?
prothrombin time will be normal
activated partial thromboplastin time (APTT) may be prolonged but not always
von willebrand factor antigen
von Willebrand factor function assay (ristocetin cofactor and collagen binding assays)
Factor VIII activity value may be decreased (in the absence of vwf, factor 8 has a decreased half life)
159
How is VWD managed? (3)
- tranexamic acid for mild bleeding
- desmopressin (DDAVP): raises levels of vWF by inducing release of vWF from Weibel-Palade bodies in endothelial cells
- factor VIII concentrate/vWF concentrate
160
what is thrombocytopenia?
low platelets
161
how is haemophilia A and B managed?
if there is bleeding
A - recombinant factor VIII concentrate
B - recombinant factor IX concentrate
162
What is ITP? Which type of Abs target the platelets? What is the compensatory finding in this condition?
immune thrombocytopenia is the commonest cause of thrombocytopenia in childhood.
It is usually caused by the destruction of circulating platelets by antiplatelet IgG autoantibodies.
the reduced platelet count may be accompanied by a compensatory increase of megakaryocytes in the bone marrow
163
what are the clinical features of ITP? (3)
most children present between the ages of 2 and 10 often with the onset 1-2 weeks after a viral infection
petechiae, purpura and/or superficial bruising
it can causes epistaxis and other mucosal bleeding
absent splenomegaly or hepatomegaly
164
how is ITP diagnosed?
ITP is a diagnosis of exclusion
low platelet count less on blood smear
*in younger children, a congenital cause (such as Wiskott-Aldrich or Bernard-Soulier syndromes) should be considered.
bone marrow examination should be performed if the child is going to be treated with steroids, since the treatment may temporarily mask the diagnosis of acute lymphoblastic leukaemia (ALL)
165
How is ITP managed?
usually the disease is acute, benign and self-limiting
most children can be managed at home and do not require hospital admission.
most children do not need therapy
the treatment options include oral prednisolone or IVIG
platelet transfusions are reserved for life-threatening haemorrhage.
166
what is acute lymphoblastic leukaemia?
it is the most common malignancy in childhood.
| It arises from malignant proliferation of pre-B (common ALL) or T-cell lymphoid precursors.
167
what age group is ALL common in?
the peak incidence is at around 2-5 years of age and boys are more commonly affected than girls
168
How does acute lymphoblastic leukemia present? (5)
typically a short history (days or weeks) and with signs and symptoms reflecting pancytopenia, bone marrow expansion and lymphadenopathy
purpura, easy bruising, epistaxis due to thrombocytopenia
hepatosplenomegaly
pallor, ecchymoses or petechiae
fever
fatigue, dizziness, palpitations and dyspnoea
epistaxis, menorrhagia
bone pain - secondary to bone marrow infiltration
169
What investigations would you perform for ALL and what would you see? (4)
- bone marrow: hyper cellularity and infiltration by lymphoblast's
- FBC - anaemia, leucocytosis, neutropenia and/or thrombocytopenia
- peripheral blood smear - leukaemic lymphoblast's
- serum electrolytes
- chest XR may show evidence of a mediastinal mass, pleural effusion or LRTI
- RFT - urea may be normal or elevated
- LFTs - may be normal or elevated
170
What are the factors that lead to poor prognosis in ALL? (3)
```
age < 2 years or > 10 years
WBC > 50* 109/l at diagnosis
CNS disease present
non-Caucasian
male sex
```
171
what is acute myeloid leukaemia?
it is more common in adults than children but accounts for 5% of all childhood malignancies
it results from malignant proliferation of myeloid cell precursors in the bone marrow, peripheral blood or extramedullary tissues.
172
What are the features of acute myeloid leukaemia? (4)
```
anaemia - pallor, lethargy, weakness
neutropenia - WCC may be very high however functioning neutrophil levels may be low leading to frequent infection
thrombocytopenia - bleeding
splenomegaly
bone pain
```
*lymphadenopathy and intrathoracic extramedullary disease is less prominent than in ALL
173
what is the classification used for AML?
```
MO - undifferentiated
M1 - without maturation
M2 - with granulocytic maturation
M3 - acute promyelocytic
M4 - granulocytic and monocytic maturation
M5 - monocytic
M6 - erythroleukaemia
M7 - megakaryoblastic
```
174
What conditions predispose to leukaemia? (4)
down's syndrome increase risk of AML and ALL
Fanconi syndrome, bloom syndrome, ataxia telangiectasia, Kostmann's syndrome, diamond blackfan syndrome, kleinfelters, turners, neurofibromatosis, incontinentia pigmenti all increase the risk of AML.
175
what is Hodgkin's lymphoma?
Hodgkin's lymphoma (HL), also referred to as Hodgkin's disease, is an uncommon haematological malignancy arising from mature B cells. It is characterised by the presence of Hodgkin's cells and Reed-Sternberg cells.
176
What is Hodgkin's lymphoma characterised by? (3)
the presence of Reed-Sternberg cells
it is characterised by lymphadenopathy - painless, non tender, asymmetrical
Systemic - B symptoms - weight loss greater than 10%, night sweats, fever (Pel-Ebstein)
177
What are the investigations for AML? (3)
FBC - anaemia, microcytosis, leucocytosis, neutropenia and thrombocytopenia
peripheral blood smear - blasts on blood film, presence of Auer rods
```
coagulation panel
serum electrolytes
renal function
LFTs
bone marrow biopsy - will show bone marrow hypercellularity and infiltration by blasts, blasts >20%, Auer rods
```
178
what are the risk factors for Hodgkin's lymphoma?
history of EBV infection
| fam history of Hodgkin's lymphoma
179
what are the different types of Hodgkin's lymphoma ?
Nodular sclerosing Hodgkin lymphoma (NSHL) - most common in children and adolescents
Mixed-cellularity Hodgkin lymphoma (MCHL)
Lymphocyte-depleted Hodgkin lymphoma (LDHL)
Lymphocyte-rich classical Hodgkin lymphoma (LRHL)
180
what are the common sites for hodgkins lymphoma?
most common site is cervical and mediastinal
| dissemination to extra-nodal sites is uncommon
181
What is the staging for hodgkins lymphoma?
Ann Arbor system
I -Single lymph node region
II- Two or more regions on the same side of the diaphragm
III- Involvement of lymph node regions on both sides of the diaphragm
IV - Involvement of extra nodal sites
A- no B symptoms
B- B symptoms
182
What investigations would you perform for hodgkins lymphoma? (3)
```
FBC
LN biopsy
metabolic panel
ESR
CT neck chest and abdomen/pelvis
PET scan
CXR
Bone marrow biopsy - if radiological evidence of at least stage 3) - the presence of Hodgkin's cells
```
EBV serology
183
what is a lymphoma?
Lymphoma is the malignant proliferation of lymphocytes which accumulate in lymph nodes or other organs. Lymphoma may be classified as either Hodgkin's lymphoma (a specific type of lymphoma characterized by the presence of Reed-Sternberg cells) or non-Hodgkin's lymphoma (every other type of lymphoma that is not Hodgkin's lymphoma).
184
What are the clinical features of non-Hodgkin's lymphoma? (5)
```
peripheral lymphadenopathy
splenomegaly
night sweats
weight loss
fatigue
malaise
fever
extra nodal disease - gastric (dyspepsia, dysphagia, weight loss, abdominal pain), bone marrow (pancytopenia, bone pain), lungs, skin, central nervous system (nerve palsies)
```
185
how can you differentiate hodgkins from non-Hodgkin's? (2)
Lymphadenopathy in Hodgkin's lymphoma can experience alcohol-induced pain in the node
'B' symptoms typically occur earlier in Hodgkin's lymphoma and later in non-Hodgkin's lymphoma
Extra-nodal disease is much more common in non-Hodgkin's lymphoma than in Hodgkin's lymphoma
186
What investigations would you perform for non-Hodgkin's lymphoma? (4)
excisional node biopsy
CT chest abdomen and pelvis - to assess staging
HIV test
FBC - thrombocytopenia, pancytopenia, lymphocytosis
blood smear - nucleated red blood cells, left shift
LDH - an indirect indication of the proliferative rate of the lymphoma - an important diagnostic and prognostic factor
187
What are the risk factors for non-Hodgkin's lymphoma? (3)
```
males
>50
immunocompromised
EBV infection
human T-lymphocytotrophic virus 1 (HYLV-1)
human herpesvirus-8
H.pylori
coeliac disease
HIV
Hep C
```
188
what is the staging used for non-hodgkins lymphoma
same as HL - ann arbor system
189
how is non-Hodgkin's lymphoma managed? (3)
Management is dependent on the specific sub-type of non-Hodgkin's lymphoma and will typically take the form of watchful waiting, chemotherapy or radiotherapy.
All patients will receive flu/pneumococcal vaccines
Patients with neutropenia may require antibiotic prophylaxis
190
What are the complications of Hodgkin's lymphoma? (3)
Bone marrow infiltration causing anaemia, neutropenia or thrombocytopenia
Superior vena cava obstruction
Metastasis
Spinal cord compression
Complications related to treatment e.g. Side effects of chemotherapy
191
What are the different types of ALL?
T cell
B cell
192
What are the complications of ALL? (3)
neutropenic sepsis - give tazocin
hyperuricaemia - give allopurinol
secondary cancer
stunted growth
193
what are the different types of brain tumours?
Astrocytoma - the most common - varies from benign to highly malignant
Medulloblastoma - arises in the midline of the posterior fossa
ependymoma
brainstem glioma
craniopharyngioma
194
what are the classifications of brain tumours?
supratentorial - cortex - astrocytoma
Infratentorial - cerebellar - medulloblastoma, astrocytoma, ependymoma. - brainstem, - brainstem glioma
spinal cord - astrocytoma, ependymoma
Midline - craniopharyngioma
195
what are the clinical features of a supratentorial tumour? (3)
seizures
hemiplegia
focal neurological signs
196
what are the symptoms of a midline tumour?
visual field loss - bitemporal hemianopia
| pituitary failure - growth failure, diabetes insipidus, weight gain
197
what are the symptoms of cerebellar and IVth ventricle tumour?
truncal ataxia
coordination difficulties
abnormal eye movements
198
What are the symptoms of a brainstem tumour?
cranial nerve defects
pyramidal tract signs (hyperreflexia, weakness, spasticity, and a Babinski sign)
cerebellar signs - ataxia
*prognosis is poor
diffuse brainstem gliomas are inoperable
199
what are the most common sites for a low grade glioma?
cerebellum and optic pathway
200
What is the most common malignant brain tumour in children?
primitive neuroectodermal tumours (PNET) - majority occur in the cerebellum (similar histologically to medulloblastoma however worse prognosis) they usually arise in the midline and invade the fourth ventricle and cerebral hemispheres
201
How do children with an ependymoma present?
they usually present with obstructive hydrocephalus
Ependymomas develop from ependymal cell. These cells line the fluid filled areas of the brain (ventricles) and the spinal cord and produce CSF.
202
how do brainstem gliomas present?
cranial nerve palsies, ataxia and pyramidal tract signs
203
how do primitive neuroectodermal tumours present? (3)
headache, vomiting and ataxia
204
what does a craniopharyngioma present with?
visual field loss due to compression of the optic chiasm
| pituitary dysfunction - growth failure and diabetes insipidus
205
what is a craniopharyngioma?
slow growing midline epithelial tumours arising from the remnant Rathke's pouch
206
what are the symptoms of a retinoblastoma? (3)
- absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
-strabismus
- visual problems
207
what is a Wilm's tumour?
it is a nephroblastoma - the most common form of renal malignancy in childhood.
it arises from embryonic renal tissue
208
what age group does a Wilm's tumour present in?
2-5 years
209
What are the clinical features of a Wilms' tumour? (3)
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)
210
What are Wilms' tumours associated with? (3)
genitourinary abnormalities e.g. horseshoe kidney, hypospadias
hemihypertrophy syndrome
beckwith-wiedemann syndrome
around one-third of cases are associated with a loss-of-function mutation in the WT1 gene on chromosome 11
associated with aniridia (absent iris)
WAGR (wilms tumour, anridia, genitourinary abs, range of developmental delays)
211
What investigations would you perform for a wilms' tumour? (5)
FBC
Renal function - decreased clearance creatinine/raised serum creatinine
LFT
urinalysis
abdominal US
CT scan of abdomen - claw sign in involved kidney
biopsy
Genetic testing
212
how do you treat a wilm's tumour?
chemotherapy
nephrectomy
radiotherapy if advanced disease
213
what is a neuroblastoma?
Neuroblastoma is one of the top five causes of cancer in children, accounting for around 7-8% of childhood malignancies. The tumour arises from neural crest tissue of the adrenal medulla (the most common site) and sympathetic nervous system.
214
what are the common sites for neuroblastoma involvement?
they can occur anywhere in the sympathetic nervous system
commonly occur in the adrenals
the sympathetic chain - abdomen, thorax, pelvis, neck
215
What are the clinical features of a neuroblastoma? (3)
abdominal mass - a firm, non tender abdominal mass is the most common mode of presentation
abdominal distension
abdominal pain
bone pain is common in patients with metastatic disease
systemic signs: pallor, weight loss, bone pain from disseminated disease
hepatomegaly or lymph nodes enlargement
compression of nerves - Horner's syndrome
decreased appetite
panda eyes - periorbital ecchymosis - in patients with orbital metastases
216
What investigations would you perform for a neuroblastoma? (3)
urine catecholamine - catecholamine degradation products homovanillic acid (HVA) and vanilylmandelic acid (VMA) are secreted by the majority of tumours
FBC, serum electrolytes, creatinine/urea, LFTs
USS abdomen - heterogenous mass with internal vascularity; may show calcifications or areas of necrosis
CT/MRI
MIBG scan (identifies sites of mets)
217
how do you treat a neuroblastoma?
surgical resection
chemo
radio
218
What are poor prognostic factors in neuroblastoma? (3)
```
age >18 months
stage 3 and 4 disease
raised serum ferritin
raised LDH
raised neurone- specific enolase (NSE)
unfavourable histology
MYCN oncogene amplification
```
219
What is a retinoblastoma? What is the inheritance pattern?
Most common intraocular malignancy in children.
In 30% to 40% of cases, the disease is associated with a germline mutation in the RB1 gene, which carries an associated increased risk of secondary non-ocular tumours.
Autosomal dominant
220
How does a retinoblastoma present?
Absent red reflex, replaced by leukocoria - white pupillary reflex (most common)
Visual problems
Strabismus
221
How do you diagnose and treat a retinoblastoma? (3)
fundoscopy and examination under anaesthesia
wide-field fundus photography and spectral domain optical coherence tomography ophthalmic A and B scan USS
treat with surgery, laser eblation, cryotherapy, enucleation, chemo, external beam radiation therapy, photocoagulation
222
what are the two most common forms of bone tumours in childhood?
osteosarcoma - older children, most common
| Ewing's sarcoma: younger children, less common
223
what is an osteosarcoma?
malignant tumour of the bone-producing mesenchymal cells
224
How does an osteosarcoma present? (3)
10-20 years of age
Persistent bone pain (worse at night)
Bone swelling
Palpable mass
Restricted joint movement
225
What is the most common site for an osteosarcoma?
The femur
Other common sites involve the tibia and humerus
226
How would you diagnose an osteosarcoma according to nice guidelines? (4) What would you see on X-ray?
```
Very urgent direct access x ray within 48 hrs, if suggestive of sarcoma then very urgent specialist assessment within 48hrs
Poorly defined lesion, fluffy appareance, periosteal reaction (irritation to lining of the bone)
“sun-burst” and Codman triangle (from periosteal elevation) appearance on X-ray
Bone biopsy
LDH and alkaline phosphatase - will usually be raised
MRI
CT thorax
isotope bone scan
227
How do you treat osteosarcomas? What are the main complications?
Surgical resection (often with limb amputation)
Adjuvant chemotherapy
Metastasis and pathological fractures
228
How does an Ewing's sarcoma present?
usually occurs in bone but can also occur in soft tissue
localised intermittent pain (worse at night) and swelling, sometimes a pathological fracture.
Commonly affects the diaphysis of long bones
the most common site is the femoral diaphysis
metastasis to lungs and bone common
229
How do you diagnose and Ewing's tumour? (4)
```
plain x-ray of bony lesions
biopsy
LDH and alkaline phospatatse
MRI
CT chest
isotope bone scans
bone marrow aspirates and trephines
```
230
what is a rhabdomyosarcoma?
it is the most common soft tissue sarcoma in childhood - commonly in aged <10 years
most are either embryonic or alveolar subtypes
231
what are the clinical features of rhabdomyosarcoma? (3)
mass, pain and obstruction of:
- bladder
- pelvis
- nasopharynx
- parameningeal
- orbit
- intrathoracic
lymph involvement in common, distant metastases are rare
232
What investigations would you perform for rhabdomyosarcoma? (3)
```
CT or MRI of primary site
biopsy
CT if chest
bone marrow aspirates
isotope bone scan
LP
```
233
what is the most common primary paediatric hepatic tumour? and what is seen in this type of tumour? (3)
hepatoblastoma
usually seen in the first year of life
serum AFP levels are raised by >80%
