Paediatrics Flashcards
(270 cards)
1
Q
How would Henoch-schoelien purpura (HSP) present?
A
Classic triad: Purpura (non blanching), Arthritis or arthralgia (knees and ankles) and Abdo pain.
Often a recent uppert respiratory tract infection.
can also see renal involvment, scrotal oedema and intussusception.
2
Q
what are the tests and treatment for Henoch-schoelien purpura (HSP)?
A
tests: high ESR and IgA, proteinuria. high Antistreptiolysin O (ASO) titres. check U&E and BP
treatment: steroids my help with abdo pain.
complications: haemoptysis, massive GI bleed, Ileus, acute renal failure(rare)
outcomes: recurrence in 35% - correlates with high ESR.
can see HSP nephritis
3
Q
Presentation of Idiopathic Thrombocytopaenic Purpura (ITP)?
A
acute bruising, purpura, petechiae
recent history of URTI or gastroenteritis
It is the most common aquired bleeding disorder in childhood. acute and chronic forms.
4
Q
Tests and treatment for Idiopathic Thrombocytopaenic Purpura (ITP)?
A
Test: blood film
Treatment: first-line options include corticosteroids, intravenous immunoglobulin and intravenous anti-D immunoglobulin.
gradual resolution over 3 months for 80% - manage at home
20% become chronic - Rituximab. splenectomy in chronic with treament failure.
platelet transfusion if life threatening bleeding
5
Q
CSF findings for meningitis, bacterial vs viral?
A
Bacterial: Raised cell count
Raised protein
Low glucose
Bacteria identified in blood or CSF culture or PCR
Viral: Raised cell count Normal protein Normal glucose Virus identified in CSF, stool, throat or blood HSV encephalitis
6
Q
Causes and treatments of meningistis in children <3 months and >3 months?
A
< 3 months: Group B strep,
Also: Ecoli, Listeria, pneumococcus, meningococcus
Treatment: Cefotaxime & amoxicillin
Herpes simplex treatment: aciclovir, Enterovirus
> 3 months: Meningococcus, pneumococcus ( haemophilus influenza ),
Treatment: Cefotaxime / cetriaxone
Herpes simplex treatment: aciclovir, Enterovirus
7
Q
An 8 year old presents with a history of a Cold the previous week with New fever and complaining of headache before going to bed. They are Sleepy and confused when woken. Ecxamination reveals neck stiffness, cool peripheries and poor Capillary return. what is the most likely diagnosis?
A
Meningococcal septicaemia.
Caused by meningococcus, usually GpB in UK now
GpC previously common, GpA common in Africa/ middle east, , W increasing in UK*
May or may not have associated meningitis
Clinical presentation, rapid onset septic shock
Septicaemia with other organisms may mimic: Pneumo, Toxin producing strains GpA Strep, Staph aureus
8
Q
Presentation of Meningitis vs Meningococcal septicaemia?
A
Meningitis: Neck stiffness Sensitivity to light.(not reliable in young children) Drowsy/ irritable Vomiting Headache Full fontaelle
Septicaemia: Red/purple non-blanching rash. Cold hands and feet. Tachypnoea. Flu like symptoms
9
Q
a 4 month old presents with recurrent cough and noisy breathing past 3 days. On examition you notice
sub intercostal recession, RR 60,Temp 37.8 and nasal flaring. There are bilateral crackles and wheeze. The child is alert, well perfused. what is the most likely diagnosis?
A
Bronchiolitis.
Causative organisms: RSV Para Flu Influenza A/B Rhinovirus Adenovirus
10
Q
what is the immunoglobulin profile of a newborn?
A
Normal Newborn infants makes IgM & some IgA, but most of their IgG is maternal
11
Q
what would the signs and symptoms be of a primary immunodeficiency? what tests would you perform?
A
S+S: Failure to thrive, skin problems , chronic chest problems ,organomegaly/adenopathy
Tests:
FBC : low total WBC, neutrophil or lymphocytes
Total Ig GAM +/-E
Responses to routine immunisations
Lymphocyte subsets: numbers of T and B cells
Lymphocyte function (Normal infant lymphocyte count >2.5)
1 in 2000 births underlying immune deficiency
1 in 50-60,000 severe Immune defect “SCID”
Severe disease presenting in neonates/ infants, immunological emergency
Primary immune deficiency is rare but consequences of missing are significant
12
Q
10 signs of a primary immunodeficiency (PI)?
A
- 4 or more ear infections in 1 year
- 2 or more serious sinus infections in 1 year
- 2 or more months on antibiotics with little affect
- 2 or more pneumonias in 1 year
- Failure to thrive
- Recurrent deep skin or organ abscesses
- Persistent thrush in mounth or fungal skin infections
- Needing IV antibiotics to clear an infection
- 2 or more deep seated infections or septicaemia
- Family history of PI
13
Q
Treatment for primary immunodeficiency (PI)?
A
Antibiotic / antiviral prophylaxis
Prompt treatment of infections
Replacement immunoglobulin
Bone marrow transplant
14
Q
Name a live attenuated vaccine.
A
MMR, BCG, nasal flu, rotavirus
15
Q
name an inactivated vaccine.
A
whole cell pertussis
16
Q
name an inactivated toxin vaccine
A
diptheria, tetanus
17
Q
name a recombinant components vaccine.
A
acellular pertussis
18
Q
name a conjugate vaccine.
A
Bacterial Polysaccharide+protein carrier
Polysaccharide coat of bacteria e.g. pneumo, Hib, MenC, poorly immunogenic
Improved by conjugation to protein
Carrier
Generates:
Immunological memory
Reduced Carriage of organism
19
Q
name a Cell wall/ envelope components vaccine.
A
Flu, MenB
20
Q
what vaccinations should a child receive at 2 months?
A
Tetanus, Diphtheria, Polio, Purtussis, HiB, Pneumococcal (Prevenar 13), Men B
21
Q
what vaccinations should a child receive at 3 months?
A
Tetanus, Diphtheria, Polio, Purtussis, HiB, Men C
22
Q
what vaccinations should a child receive at 4 months?
A
Tetanus, Diphtheria, Polio, Purtussis, HiB, Pneumococcal (Prevenar 13), Men B
23
Q
what vaccinations should a child receive at 12 months?
A
HiB, Pneumococcal (Prevenar 13), Men B, Men C MMR
24
Q
what vaccinations should a child receive at 3-4 years?
A
Tetanus, Diphtheria, Polio, Purtussis, Flu
25
what vaccinations should a child receive at 13 years?
Tetanus, Men ACWY, HPV (girls)
26
what age group of children are most likely to have infections?
Young infants more likely to get infections : reduced immunity & lack of immunisation or exposure
27
what is a cavernous haemangioma?
a strawberry birth mark. absent at birth. disappears by 2 years
28
what is a capillary haemangioma?
a port wine stain. present at birth. never disappears
29
How much should new born babies be fed?
150 ml/kg/day.
30
What is important to note about infant breathing patterns?
infants are obligate nasal breathers (cant breath through mouth) up to 6 months
31
differences in the causes of early puberty in boys and girls.
early puberty in girls is usually physiological. in boys it is usually a sign of more serious underlying pathology i.e. brain tumour or congenital adrenal hyperplasia
32
what is the average full term weight of a neonate?
3.5kg.
weight gain is approximately 30g/day or roughly 200-300 g/week
Birth weight should double in 3-4 months and triple by 1 year. From 1 year onwards, weight gain should be 1-2 kg/year.
poor growth in the first years of life is most likely due to poor nutrition.
increased weight is mainly due to overfeeding but can be due to fluid retention in heart failure or congenital nephrotic syndrome
33
What is the average length of a neonate at birth?
50 cm.
1st year gain 25 cm
2nd year gain 12.5 cm
6-11 years gain 6 cm/year
34
How would you distinguish between familial, constitutional and pathological short stature?
Perform x-ray of Left wrist to determine bone age.
Familial: bone age the same as patient age
Constitutional: bone age is younger than patient age, therefore there is further growing to do.
Pathological: bone age is older than patient age
Don't investigate short stature straight away, look at grtowth velocity first.
35
what is the average pubertal growth spurt in boys and girls?
boys: 35cm
girls: 25cm
36
what is the average head circumference at birth?
35 cm
1st year growth is 12cm - 6cm by 3 months, 6cm last 9 months
Average adult head circumference 55-56cm
too much growth is hydrocephaly
too little growth is microcrphaly
37
why is a head ultra sound performed in all preterm neonates born before 28 weeks?
to rule out an intracranial bleed
38
what fluids would you prescribe a neonate and what rates would you administer them at?
```
Glucose:
Day 1 – 60 mls/kg/day
Day 2 – 90 mls/kg/day
Day 3 – 120 mls/kg/day
Day 4 – 150 mls/kg/day
```
```
Electrolytes in neonates:
From day 2
Na 3 mmol/kg/day
K 2 mmol/kg/day
Ca 1 mmol/kg/day (rarely)
```
39
what is the formula for the predicted weight of a child?
(Age + 4) x2 = weight in kg
40
what fluids would you prsecribe an older child?
0.9% sodium chloride + 5% glucose (+/- KCl)
41
How do you work out the fluid administration rate for a child?
Daily maintanence:
100 mls/kg/day for the first 10 kg
50 mls kg/day for the next 10 kg
20 mls/kg/day for every kg after
Alternatively (hourly rate):
4 mls/kg for first 10kg
2 mls/kg for next 10kg
1 mls/kg for next kg
42
work out the fluid rates for the following children:
1) 6 kilogram 7 month old boy
2) 9 kilogram 13 month old girl
3) 17kg 3 year old girl
4) 60kg 15 year old boy
1) 6 Kg 7 month old boy
Hourly = 24ml/hr
Daily = 576ml
2) 9 Kg 13 month old girl
Hourly = 36ml/hr
Daily = 864ml
3) 17kg 3 year old girl
Hourly = 54ml/hr
Daily = 1296ml
4) 60kg 15 year old boy
Hourly = 100ml/hr
Daily = 2400ml
43
How do you correct a fluid deficit in a child that is:
1) Not dehydrated
2) Dehydrated
3) Shocked
Not dehydrated – maintenance
Dehydrated = 50 mls/kg extra
Shocked = 100 mls/kg extra (+ fluid bolus)
Over 24 hours
44
what is the standard fluid bolus in a child?
20 mls/kg 0.9% sodium chloride
45
what is the standard fluid bolus in a child presenting with diabetic ketoacidosis?
10 mls/kg 0.9% sodium chloride rhen slow correction over 48 hours. due to the risk of cerebral oedema.
46
3 reasons why an infants lungs may be overinflated on chest xray?
inflammation (e.g. viral bronchiolitis), heart failure (eg.ventricular septal defect) or fluid overload (transient tachypnoea of the newborn).
may also be due to a foreign body (acting as a ball-valve)
An adults lungs will be overinflated due to the large tidal volume – compliant patients can do the same. Sick infants have a different explanation for their hyperinflation – they breath fast (tachypnoea) and overinflation is due to air-trapping. Airway resistance is higher during expiration (the airways are slightly smaller) and this difference becomes critical with any pathology causing bronchial wall thickening in infants (under 18 months of age). The result is that air goes in easier than it comes out and lung volumes increase “air-trapping”.
The small airways can be irreversibly damaged by inflammation (obliterative bronchiolitis) following viral infection or bone marrow transplantation. Causes of localised overinflation in the newborn include congenital lung problems (e.g. congenital lobar emphysema).
Radio-lucency should trigger a search for a pneumothorax.
47
how would you identify bronchial wall thickening on xray and in what disease states is it commonest?
a very common finding on a paediatric CXR, sufficiently that the significance is unclear in isolation. Look for “tram-track” parallel lines around the hila – the commonest cause is viral infection or asthma. It is a common finding with cystic fibrosis.
48
what is the 'sail sign'?
The mediastinum contains structures between the lungs. The anterior mediastinum in front of the heart contains the thymus gland. This appears largest at around 2 years of age – it carries on growing into adolescence but not as fast as the rest of the body (and so becomes less apparent on the x-ray). The right lobe can rest on the horizontal fissure, often called a ‘Sail sign’
49
what is the normal pubertal age range for boys and girls?
Delay in girls > 13 years
Delay in boys > 14 years
Early in girls < 8 years
Early in boys < 9 years
Breast buds first sign in girls
Testicular enlargement first sign in boys
50
Name 4 factors that affect birth weight?
Maternal size & weight
Parity
Gestational diabetes
Smoking
following birth:
A third show catch-up growth
A third maintain birth weight centile
A third show catch-down growth!
51
Name some common causes of short stature.
```
Constitutionally small - small parents
Ideopathic short stature
usually small birth
Psychosocial (neglect)
Delayed puberty
Chronic disease
```
Endocrine causes – Striae ? Cushings
52
how would you differentiate between nutritional and endocrine obesity?
Nutritional obesity – tall & fat
Endocrine problem – short & fat
Often early developement
53
Common causes of a limp in a child age 0-3 years old?
#/soft tissue injury (toddler’s #/NAI)
Osteomyelitis or septic arthritis
Developmental dysplasia of the hip
54
Common causes of a limp in a child age 3-10 years old ?
Trauma
Transient synovitis/irritable hip
Osteomyelitis or septic arthritis
Perthes disease (avascular necrosis of the epiphysis of the femoral head)
55
Common causes of a limp in a child age 10-15 years old?
```
Trauma
Osteomyelitis or septic arthritis
Slipped upper femoral epiphysis
Chondromalacia
Perthes disease (avascular necrosis of the epiphysis of the femoral head)
```
Both intra-abdominal pathology and testicular torsion may present simply as a limp – examine abdomen and testicles in boys!!
56
Examination findings and treatment for transient synovitis?
Usually no pain at rest + passive movements only painful at extreme ranges
FBC + ESR normal or slightly elevated
XR may be normal
USS may show effusion
Main treatment rest + physio
NSAIDs useful, can shorten the duration of symptoms in children, usually resolves within 2 weeks
Acute onset, after a respiratory illness (weak evidence)
Affects young children (boys more than girls) most often
Most common cause of acute hip pain in young children age 3-10
Usually unilateral
May refuse to walk/limp
57
how would septic arthritis present?
Most often hip, knee, ankle, shoulder, elbow.
Most often children <2yrs.
Early features often non-specific.
Child often very unwell.
Pain often present at rest, resistance to attempted movement of the hip.
Older children usually reluctant to weight bear, may be more aware of referred pain in the knee.
Hip is kept flexed, abducted and externally rotated
```
BCs +ve, raised WCC + CRP
XR show delayed changes
Bony changes not evident for 14-21 days
By 28 days, 90% show some abnormality.
About 40-50% focal bone loss is necessary to cause detectable lucency on plain films
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58
what is Kocher’s criteria?
```
Criteria for septic arthritis
Fever >38.5
Cannot weight bear
ESR>40 in 1st hr
WCC>12
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59
what is Perthes Disease?
```
Self-limiting hip disorder caused by varying degrees of ischaemia and subsequent necrosis of the femoral head.
Most often affects boys (80%) and those aged 5-10 yrs.
Increased risk with:
low birth weight
short stature
low socio-economic class
passive smoking.
Unilateral in 85% of cases
```
Presents with pain in hip or knee, causes limp.
Pain (often in knee), + effusion (from synovitis).
On examination all movements at hip limited
No history of trauma.
Roll test; with patient lying supine, roll the hip of the affected extremity into external + internal rotation.
Should invoke guarding or spasm, especially with internal rotation.
60
what are the classic xray features of Perthes disease?
Classic x-ray features:
Sclerosis, fragmentation and eventual flattening of the proximal femoral epiphysis
Absent in early disease
May be initially misdiagnosed as irritable hip
61
what is SCFE?
Slipped capital femoral epiphysis (Aka SUFE -Slipped upper femoral epiphysis)
Usually occurs at the onset of puberty and most often in children who are either very tall and thin, or short and obese.
Other risk factors include Afro-Caribbean, boys, family history.
One quarter of cases are bilateral.
Prepubescent male children (12-15 yrs)
Hip, thigh and knee pain.
Often initially a several week history of vague groin or thigh discomfort.
May be able to weight bear, but is painful.
Flexion of hip often also causes external rotation.
May be leg shortening.
62
What are the xray findings and treatment for SCFE?
XR shows widening and irregularity of the plate of the femoral epiphysis.
The displacement of the epiphyseal plate is medial and superior
Surgical pinning of the hip is usually required and should be done quickly.
63
what are the risk factors for DDH (Developmental dysplasia of the hip)?
```
Female
Breech position
Caesarean section
1st child
Prematurity
Oligohydramnios
Family history
Club feet, spina bifida and infantile scoliosis
```
64
what are the screening tools for DDH (Developmental dysplasia of the hip)?
Classic screening tests are Barlow and Ortolani
Ortolani assesses if the hip is dislocated
Barlow assesses whether the hip is dislocatable.
DDH Must be detected early
Delayed identification leads to more prolonged morbidity
Signs: Asymmetrical skin creases in the thigh or buttock
Unequal leg length
Up to 60% of abnormal hips become normal without Tx after 1mth
USS usually done
Mx depends on age
65
How would you distinguish Erythema multiforme from urticaria?
Usually not itchy
Does not move around - individual lesions perist for days
Has target lesions with a central papuler, blister, purpura or ulcer.
Often has mucosal involvement
66
What is a mongolian blue spot?
Mongolian blue spots, also known as slate gray nevi, are a type of pigmented birthmark. They're formally called congenital dermal melanocytosis. These marks are flat and blue-gray. They typically appear on the buttocks or lower back, but may also be found on the arms or legs.
they are not present in caucaians
67
What prodromal sympotoms are usually present in measles?
4 Cs– cough, coryza, conjunctivitis, cranky (irratable) Koplik spots - spots on the palate (these are pathognomic.
these occur before rash (which starts behind the ears and spreads down the body to become confluent)
incubation 7-12 days. infectious from prodrome.
Measles is a notifiable disease
68
describe the rash associated with rubella and where it would typically be located.
red-pink rash that starts behind the ears and the head and neck.
It may then spread to the chest, stomach, legs and arms
secondary symptoms include swollen lymph nodes
3 weeks incubation. infectious from 5 days before to 5 days after start of rash.
69
name the chronic complication of measles.
subacute sclerosing parencephalitis.
7-13 yrs post infection. behavior change, myoclonus, choreoathetosis (chorea (irregular migrating contractions) and athetosis (twisting and writhing)), dystonia, dementia, coma and death.
70
Tests, complications and treatments for measles
tests: IgM and IgG positive. PCR for serotyping (paramyxovirus)
complications: otitis media is most common. tracheitis and croup in infants. pneumonia is the most common cause of death
Treatment: supportive care with adequate nutrition. Abx for secondary infection.
prognosis: good in rich countries. 10% mortality in poor countries.
vaccination 80% effective
71
what are the complications of rubella in a child and in utero?
child: small joint arthritis
infection during first 4 weeks In utero: cataract (eye anomalies)
infection during weeks 4-8 In utero: cardiac anomalies
infection during weeks 8-12 In utero: deafness.
72
How would mumps present?
painful parotid swelling
prodromal malaise, high temperature
incubation 14-21 days. infectious 7 days before and 9 days after parotid swelling.
73
treatment and complications of mumps?
treatment: rest and supportive care
```
complications:
orchitis
arthritis
meningitis
pancreatitis
myocarditis
deafness
```
74
Which virus causes 'Slapped-cheek'?
Parvovirus B19.
mild, acute infection
treatment rarely needed
Malar (cheek) rash and glove and stocking rash on hands and feet
Infection in pregnancy is serious due to risk of fetal death from hydrops fetalis. (due to inhibition of multiplication and lysis of erythroid progenitors). 10% of those infected before 20 weeks miscarry.
Fetal/neonatal infection also increases risk of growth restriction, meconium peritonitis, myocarditis, glomerulonephritis, placentomegaly, hepatomegaly, pancytopaenia
75
what is an acute complication of 'Slapped cheek' infection?
aplastic crisis - bone marrow stops making red blood cells. this is serious if RBC life sppan is already short (i.e. in sickle cell, thallassaemia, spherocytosis, HIV)
Treatment is transfusion and IV immunoglobulin
76
Name the mild self-limiting illness in infants that is caused by HHV 6. what is the early sign for this infection?
Name: Roseola infnatum.
Early sign: Uvulo-palatoglossal ulcers may be present
common, mild illness with raised temperature, and a maculopapular rash the presents when the fever subsides after 4 days.
77
What causes hand, foot and mouth disease and how would it present?
Cause: Cocksackie virus A16 (or enterovirus 71 - suspect this cause in outbreaks with herpangina*, meningitis, flaccid paralysis +/- pulmonary oedema)
Presentation: child is mildly unwell, vesicles are present on palms, soles and mouth (these cause discomfort until they heal - without crusting)
*herpangina is fever, sore throat and vesicles +/- abdo pain and nausea - very contagious
78
what is impetigo caused by? how is it treated?
In the UK, impetigo is usually due to a germ known as Staphylococcus aureus; in hot climates it may be due to Streptococcus pyogenes, or to a mixture of the two.
Honey-coloured crusting is seen
V.V. contagious
treat with Antibiotic creams such as mupirocin or fusidic acid will usually be prescribed. Retapamulin is a newer antibiotic cream that is occasionally used. due to increased resistance creams containing antiseptics such as povidone iodine or chlorhexidine may be recommended as an alternative.
Oral antibiotics may be needed if the impetigo is wide spread, is slow to respond, or keeps coming back. Flucloxacillin, erythromycin and cephalexin can be effective for widespread infection and are taken for at least 7 days. Penicillin can be added to the treatment if the impetigo is due to a streptococcal infection
79
what is an abcess?
an abscess is a painful collection of pus, usually caused by a bacterial infection (staphylococcus). Abscesses can develop anywhere in the body.
80
Which bacteria causes scalded skin syndrome?
Staphylococcal scalded skin syndrome (SSSS) is an illness characterised by red blistering skin that looks like a burn or scald, hence its name staphylococcal scalded skin syndrome. SSSS is caused by the release of two exotoxins (epidermolytic toxins A and B) from toxigenic strains of the bacteria Staphylococcus aureus.
81
what is scabies and how is it treated?
Scabies is not an infection, but an infestation. Tiny mites called Sarcoptes scabiei set up shop in the outer layers of human skin. The skin does not take kindly to the invasion. As the mites burrow and lay eggs inside the skin, the infestation leads to relentless itching and an angry rash.
Treatment: permethrin 5% dermal cream all over body following hot bath and scrubbing. wash all sheets clothes and towels on a hot wash. repeat at 7 days. treat all household members and close contacts.
82
What criteria are used to diagnose Kawasaki's disease?
The american heart association diagnostic criteria:
A 5 day history of fever refractory to antibiotics and 4 of the following signs and symptoms:
bilateral conjunctival injection (non-purulent conjuctivitis)
polymorphous rash
injected lips/pharynx, strawberry tongue
red/swollen palms or soles, cervical lymphadnopathy, desquamation
risk for future myocardial infarction - based on the presence of coronary artery aneurysms and their severity
83
What is the management for Kawasaki's disease?
ASOT/Anti DNAase B- look for group A strep (rule out scarlet and rheumatic fever
Echocardiography - at least twice (presentation and at 6-8 weeks) to assess for coronary artery aneurysms
Platelet count - marked thrombocytosis (and desquamation) occurs in 2nd week
Treatment:
IV immunoglobulin 2g/kg over 10 hours (preferably within 1st 10 days - reduces coronary artery aneurysms)
Aspirin 3-5mg/kg once a day for 6-8weeks
usually complete recovery in 6-8 weeks
50% have changes on echo
15-20% have CAA
In Kawasaki's there is reactivation of BCG vaccination site
84
What is Reye's syndrome?
Brain and liver damage when aspirin is given following viral infection in patients <20years
85
which gender is more likely to have a worse presentation in congenital adrenal hyperplasia?
In CAH, there is a blovk of production of aldersterone and cortisol and excess sex hormone production leading to virilisation, ambiguous genatalia in females and precocious puberty.
CAH is more dangerous for boys because it is less likely to be picked up. In girls it is obvious because of ambiguous genitalia. Boys are more likely to present collapsed and in shock.
86
How would you manage recurrent UTI in children?
MSU for culture (dipsticks are unreliable in kids)
Ultrasound KUB to check for congenital urinary tract abnormalities
it is important not to miss UTIs in children as it can lead to renal scarring and chronic kidney problems requiring dialysis in the future
Treat UTIs with broad spectrum IV antibiotics (eg. cefuroxime) to start with as children can deteriorate very quickly, switch to orals later
87
What is the most common causative organism in osteomyelitis?
Staphylococcus Aureus (this is normal nasal flora)
Osteomyelitis is usually from haematogenous spread so take blood cultures. It can also be from trauma.
OM or septic arthritis in children <3months is likely to have multiple joint involvement - IV cefuroxime 1st line
88
What is the management for suspected meningitis?
give ceftriaxone/cefotaxime
3 investigations:
blood cultures
EDTA bottle (as for FBC) sent to micro for PCR
Lumbar puncture - if well enough
Nisseria meningitidis is sensitive to cefotaxime, ceftriaxone, benzyl penicillin
Prophylaxis is ciprofloxacin/rifampicin
Need to make sure that it is cleared from the upper respiratory tract as well as it is carried nasally and can be passed on this way
89
What is the most common causative organism in lobar pneumonia?
Streptococcus pneumoniae
90
what is the 1st line treatment for community acquired pneumonia?
mild: oral amoxicillin
severe: IV benzylpenicillin
91
which child age group is the most likely to be murdered?
<1 years
92
at what age should a child be able to lift their head?
3 months
93
what gross motor movements should a child be able to perform at 6 months?
lift their chest up with arm support
Rolls
Sit unsupported
94
at what age should a child be able to pull to stand?
9 months
95
What gross motor movements should a child be able to perform at 1,2,3,4 and 5 years?
1 year
Walking
2 years
Walks up steps
3 years
Jumps
4 years
Hops
5years
Rides a bike
96
when testing fine motor and vision development in child, what should they be able to do at 4, 8, 12 and 18 months and at 3 years?
4 months
Grasp an object
Uses both hands
8 months
Takes a cube in each hand
12 months
scribbles with a crayon
18 months
Builds a tower of 2 cubes
3 years
Tower of 8 cubes
97
what level of speech should a child have at 3 months, 9 months and 1, 2, 3, 4, 5 years?
Laughs and squeals
9 months
‘dada, mama’
12 months
1 word
2 years
2 words sentences
Names body parts
3 years
Speech mainly understandable
4 years
Knows colours
Can count 5 objects
5 years
Knows meaning of words e.g what is a lake
98
what are the developmental milestones for a child social and self care at 6 weeks and 6, 9 and 12 months?
6 weeks
Smiles spontaneously
6 months
Finger feeds
9 months
Waves bye – bye
12 months
Uses spoon/fork
99
what are the developmental milestones for a child social and self care at 2, 3 and 4 years?
2 years
Take some clothes off
Feed a doll
3 years
Play with others, name a friend
Put on a t-shirt
4 years
Dress no help
Play a board game
100
```
What aspects of a developmental history would be concerning for each of the 4 domains:
Gross Motor
Fine Motor
Speech and language
Social development
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Gross Motor
Not sitting by 1 year
Not walking at 18 months
Fine Motor
Hand preference before 18 months
Speech and language
Not smiling by 3 months
No clear words by 18 months
Social development
No response to carers interactions by 8 weeks
Not interested in playing with peers by 3 years
In boys not walking by 18 months check CK
Focal neurological signs consider MRI brain
Dysmorphic features, family history– genetic investigations
Unwell child, FTT – metabolic investigations
In featureless global developmental delay low yield but generally accepted to do microrarray, TFTs, OA, AA
101
Name some genetic causes of Childhood Developmental Delay
```
Chromosomal disorders e.g Down syndrome
Microdeletions
Microduplications
Single gene disorders e.g Rett Syndrome, Duchennes
Polygenic ; Autism, ADHD
```
102
Name some environmental causes of Childhood Developmental Delay
Abuse and neglect
| Low stimulation
103
Name some factors in pregnancy that could cause Childhood Developmental Delay
Congenital infections e.g CMV, HIV
Exposure to drugs and alcohol
MCA infarct – cerebral palsy
104
Name some perinatal causes of Childhood Developmental Delay
Prematurity
| Birth Asphyxia
105
Name some factors in childhood that could cause Childhood Developmental Delay
Infections e.g meningitis, encepalitis
Chronic ill health
Metabolic conditions e.g storage disorders
Acquired brain injury – accidental or non-accidental
Hearing impairment
Vision impairment
106
What is the aetiology for downs syndrome? Name 7 characteristic features of the disease.
TRISOMY 21
1 in 600 – 800 births.
```
Characteristic features:
Learning/ developmental delay
Hypotonia
Short Stature
Congenital Heart Disease (40%) eg. ASD, AVSD VSD, PDA, Tetralogy of Fallot
Duodenal Atresia
Upward Sloping Palpebral Fissures
Epicanthic Folds
Brachycephaly (the shape of a skull shorter than typical)
Single Palmar Crease
Sandal gap between 1st and 2nd toes
Brushfield spots (small, white or grayish/brown spots on the periphery of the iris)
```
107
What is cerebral palsy and what are the different types?
Cerebral Palsy is a Permanent, non-progressive cerebral pathology. The leading cause of crippling handicap in children.
Prevalence: 2 in 1000.
The cause is damage or malformation affecting those areas of the brain involved in motor function.
```
Types of Cerebral Palsy
Spastic (70%)
Athetoid (10%) (dyskinetic)
Ataxic (10%)
Mixed (10%)
```
108
What are the causes of cerebral palsy?
```
Causes of Cerebral Palsy
Cerebral Malformation
Hypoglycaemia
Trauma
Hypoxia
Infection
Kernicterus
Unknown
```
109
what is kernicterus?
Kernicterus is a rare kind of preventable brain damage that can happen in newborns with jaundice. Jaundice affects about 60%-80% of infants.
It is caused by high levels of Unconjugated Bilirubin
Caused by: haemolysis, prematurity, sepsis, dehydration, hypothyroid, metabolic disease
High levels treated by phototherapy (blue light, 450 nm) or exchange transfusions
110
Which form of Leukaemia predominates in children?
Acute Lymphoblastic Leukaemia
111
What is the commonest malignancy seen in childhood?
Acute leukaemia is the commonest malignancy seen in childhood – accounting for around 30-33% with the majority of these (80-85%) being acute lymphoblastic leukaemia. The peak incidence of acute leukaemia in “resource rich” countries is 2-6 years. This is not seen in less privileged countries. Acute myeloblastic leukaemia does not have such variation in incidence. Environmental factors are responsible for the very high incidence of B cell lymphomas in equatorial Africa.
112
name 3 groups of children at increased risk of malignancy
Some children have an increased risk of developing malignancy such as those with Downs syndrome (increased risk of ALL and AML), children with NeuroFibromatosis 1 (astrocytoma, sarcomas) and children with congenital or acquired immunodeficiency syndromes such as ataxia telangiectasia or AIDS (lymphomas)
113
what is WAGR syndrome?
Wilms tumour, Aniridia (absence of the iris), Genital abnormalities and mental Retardation. Studies of children with the WAGR syndrome led to greater understanding of genetics and cancer. A number of children with the syndrome were found to have a deletion of 11p13, and subsequently the WT1 gene was located to this region. Mutations of this gene are found in the tumour cells of many (but not all) children with Wilms who do not have the WAGR or similar syndromes
114
what are the signs and symptoms of Acute Lymphoblastic Leukaemia?
```
Fever
Fatigue
Frequent infections
Lymphadenopathy
Hepatomegaly and/or splenomegaly
Anaemia
Bruising,petechiae
Bone or joint pain
```
Children with ALL usually present with signs and symptoms that reflect bone marrow infiltration and/or extramedullary disease. Because leukaemic blasts replace the bone marrow, patients present with signs of bone marrow failure, including anaemia, thrombocytopenia, and neutropaenia. Clinical manifestations include fatigue and pallor, petechiae and bleeding, and fever. In addition, leukaemic spread may manifest as lymphadenopathy and hepatosplenomegaly. Other signs and symptoms of leukemia include weight loss, bone pain, and dyspnoea.
Signs or symptoms of CNS involvement, even when it occurs, are rarely seen at presentation. The signs and symptoms include headache, nausea and vomiting, lethargy, irritability, nuchal rigidity, papilloedema. Cranial nerve involvement (most frequently involves 3rd, 4th, 6th and 7th nerves) may occur. Rarely there may be an intracranial or spinal mass, which causes symptoms due to nerve compression.
Testicular involvement at diagnosis is rare. However, if present, it appears as painless testicular enlargement and is most often unilateral.
115
what investigations would you perform if you suspected Acute Lymphoblastic Leukaemia?
```
Blood film
Serum chemistry
CXR
Bone marrow aspirate
Lumbar puncture
```
Imaging Studies:
Chest radiography: Evaluate for a mediastinal mass. In general, no other imaging studies are required. If physical examination reveals enlarged testes, then ultrasound of testes should be done - to evaluate for testicular infiltration.
Procedures:
Bone marrow aspirate and biopsy: The results confirm the diagnosis of ALL. In addition, special stains (immunohistochemistry), immunophenotyping, cytogenetic analysis, and molecular analysis help in classifying each case.
Lumbar puncture with cytospin morphologic analysis: These tests are performed before systemic chemotherapy is administered to assess for CNS involvement and to administer intrathecal chemotherapy.
116
what is the treatment for Acute Lymphoblastic Leukaemia?
Chemotherapy in 5 phases
The treatment of most childhood ALL has 5 components: these are described as induction, consolidation, interim maintenance, delayed intensification, and maintenance.
The goal of induction is to achieve remission or <5% blasts in the bone marrow. Induction therapy generally consists of 3-4 drugs, which may include a glucocorticoid, a vincristine, an asparaginase, and possibly an anthracycline (depending on whether they are considered at higher risk of relapse). This type of therapy induces complete remission in > 98%.
Consolidation (i.e., intensification) therapy is given soon after remission is achieved to further reduce the leukaemic cell burden before the emergence of drug resistance and relapse in sanctuary sites (e.g., testes, CNS). In this phase of therapy, the drugs are usually given at doses higher than those used during induction, or the patient is given different drugs (e.g., high-dose methotrexate (MTX) and 6-mercaptopurine (6-MP), epipodophyllotoxins with cytarabine, or multi-agent combination therapy). Consolidation therapy, first used successfully to treat patients with high-risk disease, also appears to improve the long-term survival of patients with standard-risk disease. The addition of intensive reinduction therapy (administered soon after remission is achieved) is similarly beneficial for patients in both risk groups.
In interim maintenance, oral medications are administered to maintain remission and allow the bone marrow to recover. This occurs for 4 weeks and is followed by delayed intensification, which is aimed at treating any remaining resistant leukemia cells.
The last phase of treatment is maintenance. This consists of LPs with intrathecal MTX every 3 months, monthly vincristine, daily 6-MP, and weekly MTX
117
how would a CNS tumour typically present?
```
Headache - often worse lying down
Vomiting - especially early morning
Papilloedema
Squint - secondary to VIth nerve palsy
Nystagmus
Ataxia
Personality or behaviour change
```
118
what is the 1st line treatment of CNS tumours?
1st line : Surgery
Treatment of brain tumours usually begins with surgery to remove all or part of the tumour while minimising damage to healthy tissue. Some tumours can be removed completely, and others can be removed only partially, or a biopsy only may be done. Some may not even be biopsied because the site is associated with significant risk e.g. intrinsic brain stem tumours.
Alternatives:
Radiotherapy
Radiation uses high-energy X-rays to destroy tumour cells and is often used after surgery as treatment for malignant CNS tumours. It may be used alone, or with chemotherapy, to treat tumours particularly when surgery is not possible. Radiotherapy causes damage to the developing nervous system, and so is not considered appropriate for very young children.
Chemotherapy
Increasingly chemotherapy is used to treat CNS tumours. Unfortunately many drugs that are effective against other malignant disease are ineffective in treatment of CNS tumours, mainly because they do not penetrate the blood brain barrier. This has limited the use of chemotherapy, but more recently developed drugs that have shown promise in pre-clinical studies are under investigation in clinical trials.
119
Name the types of Lymphoma and their treatments?
Lymphomas are the third commonest group of malignancies in childhood (after leukaemia and brain tumours). Approximately 60% of lymphomas seen in childhood are due to non-Hodgkin lymphoma (NHL); the remainder are Hodgkin’s lymphoma.
Lymphoma is rare in children under the age of four years. Improvements in treatment mean that nowadays most children with lymphoma will be cured. The outlook for children and young people with lymphoma has improved considerably over the last 30 years.
Standard treatment for non-Hodgkin's lymphoma is combination chemotherapy (using multiple drugs). Radiation therapy is rarely used to treat non-Hodgkin's lymphoma except occasionally when the disease has spread to the central nervous system (brain and spinal cord) or testes. The cure rate for non-Hodgkin's lymphoma ranges from 65 to 100 percent of patients depending on the type of non-Hodgkin's lymphoma, the extent of disease at the time of diagnosis and how quickly the lymphoma responds to initial therapy. Initial treatment lasts from several months to a couple of years, depending on the type and extent of the disease.
Standard treatment for Hodgkin's lymphoma is combination chemotherapy (using multiple drugs) along with radiation therapy. Overall, 80 to 98 percent of children and adolescents with Hodgkin's lymphoma are cured of their disease. The cure rate depends mainly on the stage of the lymphoma, presence of associated symptoms, the size of any tumors, and other factors about the child’s disease.
High dose chemotherapy with stem cell transplantation (from peripheral blood or bone marrow) is sometimes used, mainly for patients with Hodgkin’s or NHL who have relapsed.
120
Differential diagnosis for a child with an abdominal mass
Hepatoblastoma
Wilms tumour (also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children, rarely in adults)
Neuroblastoma (most frequently starts from one of the adrenal glands, but can also develop in the neck, chest, abdomen, or spine)
Lymphoma/leukaemia
Sarcoma
Constipation
Enlarged kidneys – polycystic disease
121
what is the treatment for Neuroblastoma?
Surgery:
Primary - if resectable
Following chemotherapy
Chemotherapy:
Type determined by stage and biology
High dose with HPSC - high risk groups
Radiotherapy:
Mainly for high risk group or at relapse
Low risk: Children at low risk usually require only surgery. Infants with some residual neuroblastoma after surgery can often be watched without treatment because the tumour will often spontaneously disappear. A short course of chemotherapy might be given to those few children that have symptoms from the tumour. For example, if the tumour is causing cord compression or respiratory symptoms
Chemotherapy may also given if resection is not possible. Infants with 4S disease and no symptoms may be watched with no treatment, because often the cancer disappears spontaneously.
Intermediate risk: For children at intermediate risk, 4 to 8 cycles of chemotherapy are usually given before or after surgery to control the disease. The chemotherapy is usually similar to that used for low risk disease. Second look surgery or radiation therapy may also be used.
High risk: For children at high risk, very intensive chemotherapy along with haemopoietic progenitor (stem) cell transplant (either bone marrow or peripheral blood) is used in addition to standard chemotherapy. Surgery and/or radiation may be part of this treatment regimen. Biologic agents such as 13-cis retinoic acid are often given for 6 months after therapy is completed
122
What is a Neuroblastoma?
t develops from specialised nerve cells (neuroblasts) left behind from a baby's development in the womb.
Neuroblastoma most commonly occurs in one of the adrenal glands situated above the kidneys, or in the nerve tissue that runs alongside the spinal cord in the neck, chest, stomach or pelvis.
It can spread to other organs such as the bone marrow, bone, lymph nodes, liver and skin.
It affects around 100 children each year in the UK and is most common in children under the age of 5.
The cause is unknown. There are very rare cases where children in the same family are affected, but generally neuroblastoma doesn't run in families.
123
What is a Wilms tumour?
Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children, rarely in adults.
The majority (75%) occur in otherwise normal children; a minority (25%) are associated with other developmental abnormalities. It is highly responsive to treatment, with about 90% of patients surviving at least five years.
124
what is the treatment for Wilms Tumour?
Chemotherapy - Prior to surgery and Following surgery
Surgery
Nephrectomy - Partial nephrectomy if bilateral
Radiotherapy - If residual abdominal or pulmonary disease
Chemotherapy:
Chemotherapy is essential in the treatment of Wilms tumor. Refinements in the combination, length, and mode of administration of the various chemotherapeutic agents result from the successive trials and have helped to optimise survival rates while minimising acute and long-term toxicities.
Chemotherapy protocols vary from study to study; however, the main agents administered include vincristine, dactinomycin, and doxorubicin. Cyclophosphamide, etoposide and carboplatin are used for some patients at higher risk of standard treatment failure.
In Europe chemotherapy is given prior to surgery to reduce tumor volume, thereby decreasing the risk of surgical spillage of tumor. In the US surgery is nearly always the first treatment.
Surgery:
Involves nephrectomy for unilateral disease, or partial nephrectomy if disease is bilateral (occurs in < 5% of patients).
Radiotherapy:
Radiation therapy is restricted for treatment of higher-stage (III and IV) disease
125
How would a Retinoblastoma present?
leukocoria – loss of red reflex (also called cat’s eye)
Strabismus - squint
pain or redness around the eye
poor vision or change in child's vision
126
what is the treatment for Retinoblastoma?
```
Treatment may include one or more of the following:
chemotherapy
radiation therapy
laser therapy
phototherapy
thermal therapy
cryotherapy
surgery - enucleation of eye
```
127
What is the aetiology for retinoblastoma?
RB1 gene - Autosomal Dominant inheritance of 1 gene
Multimodal therapy - Gene kncokout of other gene
Familial (40%) v’s Sporadic (60%)
Retinoblastoma is uncommon but of great interest because of its genetics.
Retinoblastoma occurs due to mutations in a tumor suppressor gene known as RB1 located on chromosome 13. Two mutations are necessary to "knock-out" the gene, and cause uncontrolled cell growth. In inherited retinoblastoma (40% of cases), the first mutation is inherited from a parent, while the second occurs during the development of the retina. In sporadic retinoblastoma (60%), both mutations occur during development of the retina. Alterations in the RB1 gene have also been found in other tumours, including osteosarcoma and breast cancer.
Most children with inherited retinoblastoma generally have tumours involving both eyes. The RB1 gene is an autosomal dominant gene, When a child inherits the gene, there is a 75 to 90 percent chance for the second mutation to occur, resulting in retinoblastoma. This means that some children who inherit the mutation may never get the second mutation, and may, therefore, never develop retinoblastoma. However they can still transmit the gene to their offspring, so that their children could develop the disease.
128
causes of hypochromic, microcytic anaemia?
```
iron deficiency (chronic blood loss, poor diet, cows milk protein intolerance, menstruation)
thallasaemia
chronic disease
copper deficiency
sideroblastic anaemia
aluminium or lead toxicity
```
129
causes of normochromic, normocytic anaemia?
```
chronic disease
blood loss
malignancy
chronic renal failure
transient erythroblastopaenia of childhood
marrow aplasia/hypoplasia
HIV
Haemophagocytic syndrome
```
130
what are the causes of macrocytic anaemia?
B12 deficiency (pernicious anaemia, ileal resection, strict vegetarian)
Folate deficiency (malnutrition, malabsorption, chronic haemolysis, phenytoin)
hypothyroididsm
chronic liver disease (alcholics ect..)
lesch-neyhan syndrome
Downs syndrome
marrow failure
131
what is Lesch-Nyhan syndrome?
a rare hereditary disease which affects young boys, usually causing early death. It is marked by compulsive self-mutilation of the head and hands, together with learning difficulties and involuntary muscular movements
132
what is Erythroblastosis fetalis?
Rh negative mother previously sensitised to Rh
pos cells
Transplacental passage of antibodies
Haemolysis of Rh Pos fetal cells
133
what are the signs and symptoms of erythroblastosis fetalis? how is it treated?
• Signs and Symptoms
– severe anemia
– compensatory hyperplasia & enlargement of blood
forming organs (spleen and liver)
• Treatment
– prevention of sensitization with Rh immune globulin for mother
– intrauterine transfusion of affected fetuses
134
what is the most common anaemia of childhood and how would it present?
Iron deficiency
– Low birth weight, dietary- excessive cows milk intake,
occult GI bleeding (e.g. hookworm), cow’s
milk intolerance
• Presentation– pallor, irritability, anorexia when Hb<50,
tachycardia, cardiac dilatation, murmur, poss.
splenomegaly
microcytic, hypochromic,
low-normal retics
– Low ferritin and serum
iron, Increased Total iron binding capacity
– High ZPP (Zinc protoporphyrin is a compound found in red blood cells when heme production is inhibited by lead and/or by lack of iron)
135
Treatment for Iron deficiency anaemia?
ORAL THERAPY – Mainstay
– Oral iron dose is 6mg/kg/day of elemental iron
– reticulocytosis in 72 hr, Hgb responds at ~10g/L
per wk, iron stores replenished by 3 mo
– treatment is needed for 3-6 months
– constipation common
– commonest cause of failure is non-compliance
– address cause- usually diet
136
Patients with iron overload may require iron chelation therapy. What is the drug of choice for iron chelation?
Desferrioxamine
Long term transfusion therapy reduces the risk of stoke
– will need chelation for iron overload if transfused
more than 1 yr
137
High Performance Liquid Chromatography (HPLC) may be performed to diagnose haemaglobinopathies. What would be seen on HPLC for each of the haemaglobinopathies?
```
1. Beta Thalassaemia major – Only Hb F
present
2. Alpha Thalassaemia – HPLC normal
3. Beta Thalassaemia trait – Increased
HbA2
4. Sickle disease – Hbs – No HbA present
```
138
Name 5 negative sequalae of Sickle cell anaemia
• Anemia
– cardiomegaly (high output)
– low Pulse Ox
– high WBC
• Infarction
– low O2 –> sickling due to Hb
structure changes – pain crises – Strokes
Pain
– Frequent occurrence, treat mild with
paracetamol and NSAIDS, patient and family
know pain patterns
– Trust the patient and family, and treat the pain
– Fluids, pain control – may need intranasal/iv
morphine
– O2 if needed
• Infection/sepsis
– asplenia from filtering
abnormal RBCs
– fever a serious sign
• Splenic sequestration
• Acute chest
– infection or infarction
• Aplastic crisis
– parvovirus B19 infection
• Iron overload
– need for chelation
```
• Stem cell transplantation
– curative, if good donor is
found
– reserved for severe cases
(e.g. stroke, etc.)
```
139
What would be found upon examination of FBC results for a patient with Sickle Cell disease?
– Hb values 55-95 g/L (~75 avg)
– Retic count raised ~12% (5-30%)
– will have chronic anemia, elevated WBC,
which increases with vaso-occlusive event to
18-22 (in the absence of fever)
140
What is the treatment for Sickle Cell Disease?
• Hydroxycarbamide
– increases Hgb F, which carries O2 at lower O2
tension, good efficacy,but teratogenetic
effects in pregnancy
• Transfusion programmes
– Prevent strokes for those at highest risk
• Stem cell transplants
– patients with multiple strokes, frequent crises,
if long term transfusion therapy needed,
possible GVHD
141
What inheritance pattern is seen in Sickle Cell Disease?
Autosomal Recessive
142
What is Thallasaemia?
Reduced globin chain synthesis
– Normal globin chains are α2 β2
– In β Thal there is Hb F (α and γ) and Hb A2 (α and δ)
β Thalassaemia Minor
– asymptomatic
– Mild anaemia, low MCV, Raised Hb A2
```
β Thalassaemia Major
– Progressive Severe Anaemia, low MCV, Hb F
and A2 increased
– Jaundice
– Splenomegaly
– Failure to thrive
– Skeletal Deformity
– Delayed puberty
– Death early teens/adulthood
```
– In α Thal 4 allelles can be seen
• loss 1 or 2 asymptomatic
• loss 3 or 4 Hb H, β4( alpha thal major)
143
What is the management for β Thalassaemia?
```
Genetic Counselling, AN diagnosis
• Regular blood transfusion
• Complications of Iron overload
– Liver, Heart, Pancreas, Endocrinopathy
• Iron chelation
• Bone Marrow Transplantation
```
144
How would G6PD present?
Three main presentations
– Neonatal jaundice
– Chronic non-spherocytic haemolytic anaemia
– Intermittent episodes of intravascular haemolysis
Sporadic haemolysis can also occur:
– Typically induced by drugs, fava beans, fever, acidosis
– Intravascular haemolysis - haemoglobinuria, rigors, fever, back
pain
– Treated by stopping precipitant, transfusion, renal support
145
What would be seen on a blood film from a patient with G6PD?
irregularly contracted cells
bite cells
hemighosts
146
What is the inheritance pattern for Hereditary Spherocytosis?
Typically autosomal dominant, but no family history in
25% cases
Commonest hereditary haemolytic anaemia in
Europeans - 1/5000; probably rarer in Africa
Heterogeneous - deficiencies of spectrin (41.5%),
ankyrin (1.5%), band 3 (17%), band 4.2 (21.5%)
Clinical effects vary from mild to transfusion
dependence; tends to be similar within families
147
what is Diamond-Blackfan anemia?
Diamond Blackfan Anemia (“DBA”) is a rare inherited bone marrow failure syndrome, characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes DBA patients to become severely anemic.
```
physical anomalies- at least 50% of patients
• Cranio-facial
• thumb 10-20%
• Deafness
• Musculoskeletal
• Renal
• Cardiac
• Growth retardation
```
148
what is Fanconi anaemia?
Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage.
Among those affected, the majority develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of people have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of people have some form of endocrine problems, with varying degrees of severity.
Classic features include abnormal thumbs, absent radii, short stature, skin hyperpigmentation, including café au lait spots, abnormal facial features (triangular face, microcephaly), abnormal kidneys, and decreased fertility. Many FA patients (about 30%) do not have any of the classic physical finding
149
What is ITP?
```
Immune Thrombocytopaenic Purpura (ITP)
• Usually young children
• Post viral
• Recover spontaneously in majority- weeks to
months
• Rarely dangerous, but looks dramatic
• Nothing else abnormal
– No spleen, or neutropaenia
• Treatment rarely indicated except TXA
– Rarely need steroids, Immunoglobulin or
Splenectomy
```
150
What is von Willebrand disease?
• Bleeding disorders caused by an abnormality of
the von Willebrand factor (vWF), carrier protein
for Factor VIII
– can range from almost undetectable to severe
bleeding propensity
• vWF binds on platelets to its specific receptor
glycoprotein Ib and acts as an adhesive bridge
between the platelets and damaged
subendothelium at the site of vascular injury
– i.e. causes platelets to stick
• vWF also protects FVIII from degradation
151
What are the investigations and management options for von Willebrand disease?
History
– often mild bleeding (e.g. bruising, epistaxis, primary
menorrhagia)
Investigation
– Clotting screen may be normal or APTT increased
– vWF and Factor VIII variably decreased
Treatment
– needed for bleeds or surgical procedures
– Tranexamic acid
– DDAVP usually increases vWF and Factor VIII
– Factor VIII/VWF plasma concentrates for severe
152
What are Haemophilia A and B?
Haemophilia A
• Deficiency of Factor VIII ↑APTT
Haemophilia B
• Deficiency of Factor IX, ↑APTT
```
• X linked recessive- boys
• Prolonged bleeding
• Muscle bleeds
• Joint bleeds > arthritis and deformity
• Treatment Factor VIII/IX
– Complications of treatment
```
153
what is the most common Leukaemia in children?
Acute Lymphoblastic Leukaemia
```
Peak age 4-7yrs
Prognosis 80% cure
Good Prognostic factors
Age 2-10
more common in Female
WCC<50
No CNS disease
Classified also on cell type Common,
B and T cell
```
154
What is the most common Paediatric Rheumatological condition?
Juvenile Idopathic Arthritis (JIA)
155
What complication is associated strongly with oligoarticular Juvenile Idopathic Arthritis (JIA)?
Uveitis
156
How many joints must be affected to diagnose Polyarticular Juvenile Idopathic Arthritis (JIA)?
Polyarticular JIA affects 5 or more joints by definition
157
Which joints are most commonly involved in polyarticular Juvenile Idopathic Arthritis (JIA)?
Small joints of the hands and feet are commonly involved
Polyarticular JIA frequently affects the hip joints and causes destructive joint changes relatively early in the disease course
158
What are the subtypes of Juvenile Idopathic Arthritis (JIA)?
```
Systemic Onset JIA (SoJIA)
Oligoarticular (.Persistant .Extended)
Poly articular (RF –ve)
Poly articular (RF +ve)
Enthesitis Related Arthritis (ERA)
Psoriatic
Other
```
159
What is Oligo articular Juvenile Idopathic Arthritis (JIA)?
1-4 joints during first 6 months of disease
Subcategories:
Persistent affecting no more than 4 joints throughout course.
Extended affecting > 4 joints after the first 6 months of disease.
160
What is Psoriatic Arthritis?
Arthritis and psoriasis. or
Arthritis and at least 2 of:
Dactylitis
Nail pitting or oncholysis
Psoriasis in 1st degree relative.
161
WHat is Enthesitis Related Arthritis (ERA)?
Arthritis with enthesitis.
or
Arthritis with at least 2 of the following:
Presence or history of sacroiliac joint tenderness &/ or inflammatory lumbosacral pain.
HLA B27
Onset in male >6 years
Acute anterior uveitis
Acute anterior uveitis in 1st degree relative.
Sacroilitis with IBD
Reiter syndrome
162
What is Reiter syndrome?
Reiter's syndrome, also known as reactive arthritis, is the classic triad of conjunctivitis, urethritis, and arthritis occurring after an infection, particularly those in the urogenital or gastrointestinal tract.
Can't see
Can't pee
Can't climb a tree
163
what is Systemic Onset Juvenile Idopathic Arthritis (SoJIA)?
Arthritis with or preceded by daily (quotidian) fever for at least 3 days with 1 or more of:
Evanescent rash (salmon-pink maculopapular skin rash)
Generalised lymphadenopathy
Hepatomegaly &/ or splenomegaly
Serositis
Think of Macrophage activation syndrome (MAS)
164
What is Macrophage activation syndrome (MAS)?
```
Potentially fatal (mortality rate 8-22%)
Dysregulation of T lymphocytes, NK cells, excessive cytokine production, abnormal proliferation of macrophages, cytopaenias and coagulopathy.
```
Infection can trigger MAS
165
Signs and symptoms and treatment for Macrophage activation syndrome (MAS)?
```
S+S:
Unremitting high fever
Hepatosplenomegaly
CNS dysfunction
Purpuric rash or haemorrhages
Cytopaenia
High triglyceride
Haemophagocytosis on bone marrow
Raised ferritin
```
```
Treatment:
supportive
Steroid
Ciclosporin
Etoposide
Biologics
```
166
What is JSLE?
Juvenile Systemic Lupus Erythematosis
Chronic, autoimmune disease.
Can affect every organ of the body.
Relapsing and remitting course.
Typically present in adolescent females, but can occur in small children.
Outcome has improved tremendously (10 year survival rate is over 90%)
Significant morbidity (from acute disease and treatment)
```
15% all SLE presents in childhood
Paediatric Incidence 0.5/100,000/year
More common in females(3♀:1♂ in children <12years, 10♀:1♂ in >12years)
Monozygotic twins have 24% concordance
Dizygotic twins have 2% concordance
```
167
What are the diagnostic criteria for Juvenile Systemic Lupus Erythematosis (JSLE)?
1. (Butterfly) Malar rash: fixed erythema, spares nasolabial folds.
2. Discoid rash: erythematous patches, keratotic scaling and follicular plugging, atrophic scarring.
3. Photosensitivity.
4. Oral or nasopharyngeal ulcers: painless
5. Arthritis: 2 or more.
6. Serositis: Pleuritis or pericarditis.
7. Renal Disorder: Persistent proteinuria >3+, or cellular cast
8. Neurologic disorder: seizure or psychosis.
9. Haematologic disorder:
haemolytic anaemia, or leukopaenia (<4), or lymphopaenia on two or more occasions.
Or thrombocytopaenia <100
10. Immunologic disorder:
Anti-Sm: presence of antibody to Sm nuclear antigen
Anti- ds-DNA: antibody to native DNA in abnormal titre.
False positive serologic test for syphilis.
Positive finding of antiphospholipid antibodies
11. Antinuclear antibody: abnormal titre at any point.
168
What antibodies are present in Juvenile Systemic Lupus Erythematosis (JSLE)?
Anti-Sm: presence of antibody to Sm nuclear antigen
Anti- ds-DNA: antibody to native DNA in abnormal titre.
Antinuclear antibody: abnormal titre at any point.
169
What is the management for Juvenile Systemic Lupus Erythematosis (JSLE)?
Skin rash: avoid sun, sun block, steroid.
Arthritis: NSAIDs, HCQ, steroids, Methotrexate.
Renal Disease, Haematological, CNS : steroids, Azathioprine, cyclophosphomide, MMF, Rituximab, plasmapheresis.
Fatigue and malaise: Hydroxychloroquine, steroids.
Bone disease: exercise, Ca & Vit D supplements, Bisphosphonate.
170
What is the most common causitive organism for UTI in children?
E. Coli
```
Further investigations depend upon age at presentation and organism (anything not an E coli regarded as atypical) – ref NICE GL.
USS = r/o structural abnormalities that will predispose to recurrent UTIs and renal scarring secondary to that.
Recurrent UTIs (and damage secondary to that) = one of the key causes of renal failure in young adults.
```
171
what is the treatment for UTI in children?
UTI in neonates, infants, acutely ill, suspected pyelonephritis or vomiting
First line treatment is IV cefuroxime for 7 days. (Oral switch trimethoprim but may need full course IV)
NB REFER TO SENSITIVITIES
172
1st line treatment for osteomyelitis/ septic arthritis in children >3 months?
Osteomyelitis/Septic Arthritis (over 3 months old)
First line:
IV Cefuroxime
Liaise with Microbiologist
Treat for (minimum) six weeks
Debate re IV/oral switch – very different practice nationally.
Locally – around 1w IV then PO switch if they can tolerate it, are up and about on their limb, CRP down, no collection etc.
173
1st line treatement for Bacterial meningitis or meningococcal sepsis?
First line intravenous cefotaxime
Most DGHs use ceftriaxone not cefotaxime.
SCH use cefotaxime primarily because of habit, but also issues with co-administration with calcium etc that potentially have issues in an ICU setting as we’re obviously the only centre with an ICU in the region.
174
In a child with pneumonia that is not responding to antibiotics, what further investigation may you want to perform?
Xray imaging to rule out empyema
May be that you need to swap the antibiotics because it may be caused by a different bacteria that is not sensitive to the antibiotic that is prescribed
175
what are the classical features of Croup?
```
Acute stridor
Barking seal like cough
Stidor
Recession
Worse at night
```
Viral – usually para flu
Spring/autumn
Self limiting
Treat with steroids
176
How is pneumonia diagnosed?
Bacterial pneumonia should be considered in children aged up to 3 years when there is fever of >38.5°C together with chest recession and a respiratory rate as follows (more generally accepted as > 50/min):
> 2 months > 60/min
2-11 months > 50/min
> 11 months > 40/min
For older children a history of difficulty in breathing is more helpful than clinical signs.
Chest radiography should not be performed routinely in children with mild uncomplicated acute lower respiratory tract infection
Radiographic findings are poor indicators of aetiology.
177
What are the causative organisms for pneumonia in order of prevalence?
leading bacterial cause is pneumococcus, being identified in 30–50% of pneumonia cases.
The second most common organism isolated in most studies is H. influenzae type b (Hib) (10–30% of cases)
S. aureus and K. pneumoniae also important.
Lung aspirate studies have identified a significant fraction of acute pneumonia cases to be due to Mycobacterium tuberculosis, which is notoriously difficult to identify in children.
viruses are responsible for 15-25% of pneumonias with Respiratory Syncitial Virus being the most common.
178
What is the screening tool SCOFF used for and what does it stand for?
Anorexia Nervosa
do you make yourself Sick because you're uncomfortably full?
do you worry that you’ve lost Control over how much you eat?
have you recently lost more than 6 kilograms (about One stone) in three months?
do you believe you’re Fat when others say you’re thin?
would you say that Food dominates your life?
179
what is nephrotic syndrome?
Heavy proteinuria:
Need to obtains a first morning urine protein:creatinine.
Normal < 20 mg/mmol.
No definite level that is nephrotic.
BUT > 600 mg/mmol likely to produce hypoalbuminaemia BUT occurs at lower levels.
Hypoalbuminaemia:
Normal range ~ 35 – 45 g/l
Fluid retention & oedema usually with albumin < 25 – 30 g/l but not strict cut off
Serum albumin linked to fluid retention.
Other protein losses responsible for other complications eg infection, thrombosis.
Oedema
Hyperlipidaemia
180
Nephrotic syndrome can be steroid sensitive, steroid resistant or congenital (<1 year old). How would you distinguish between steroid sensitive and steroid resistant nephrotic syndrome?
```
Steroid sensitiveNS:
Normal BP
No macroscopic haematuria
Normal renal function
No features to suggest nephritis
Respond to steroids
Histology – “minimal change” usually
```
```
Steroid resistant:
Elevated BP
Haematuria
May be impaired renal function
Features may suggest nephritis
Failure to respond to steroids
Histology – various, underlying glomerulopathy, basement membrane abnormality
```
181
What age group is most likely to have steroid sensitive nephrotic syndrome?
Peak age of onset 2 – 5 yrs
M > F
Higher incidence in those from Asian sub-continent
? Immunological aetiology
Recurrent relapses
~ 5% continue into adult life
Normal renal function if steroid responsive
182
What is the first line treatment for steroid sensitive nephrotic syndrome?
Standard course of prednisolone for first episode:
60mg/m2 for 4 weeks
40mg/m2 on alternate days for 4 weeks
```
Other considerations:
Na & water moderation
Diuretics
Pen V
Measles & varicella immunity & pneumococcal immunisation
```
183
Which organism most commonly causes acute post-streptococcal glomerulonephritis?
Gp A β haemolytic streptococcus, “nephritogenic” strains usually form a nasopharyngeal or skin infection
Antigen-antibody complexes form in the glomerulus with subsequent complement activation
Clinical nephritis is observed 10 days post infection with:
Haematuria, swelling, decreased urine output
Oedema, hypertension, signs of cardiovascular overload
184
Which investigations would you perform if you suspected acute post-streptococcal glomerulonephritis?
FBC – mild normochromic, normocytic anaemia
U&Es – increased urea and creatinine, (hyperkalaemia, acidosis)
Immunology – raised ASOT/antiDNAse B titre, low C3, C4
Throat /other swabs
Urinalysis:
Haematuria – usually macroscopic
Proteinuria – dipstick, protein:creatinine
Microscopy – RBC cast
185
What is the management for acute post-streptococcal glomerulonephritis?
Management:
Fluid balance – measurement of input/output, fluid moderation, diuretics, salt restriction
Treatment hypertension – diuretics, other
Correction of other imbalances – potassium, acidosis
Dialysis - if needed (uncommon)
Penicillin - treatment of streptococcal infection
Prognosis:
95% full recovery
Not recurrent
No long term implication for renal function if full recovery
186
what is Henoch-Schonlein Purpura (HSP)?
```
A vasculitis affecting the:
Skin
Joints
Gut
Kidneys
```
HSP nephritis:
IgA deposition
```
Variable renal presentation:
haematuria/proteinuria
nephrotic syndrome
acute nephritis
renal impairment
hypertension
```
Steroid resistant, may need immunosuppression
Variable prognosis, may be ESRD
187
What is acute pyelonephritis?
Infection of renal parenchyma, presenting with symptoms of systemic infection.
i.e. upper tract UTI
188
What is acute cystitis?
Infection of bladder, presenting with voiding symptoms
| i.e. lower tract UTI
189
How common is UTI in children?
Common
3. 1 girls/1000/year 0-14 years
1. 7 boys/1000/year 0-14 years
Acute symptoms and illness
Presenting symptom - underlying abnormality in urinary tract
With antibiotics, not usually fatal disease
190
what are the sypmtoms of an upper tract UTI?
Fever, septicaemic illness (with meningitis in infancy)
General malaise, vomiting
Loin/abdominal pain – older child
Failure to thrive, jaundice - infancy
191
what are the sypmtoms of a lower tract UTI?
Dysuria
Urinary frequency/urgency
Incontinence
Lower abdominal pain
Haematuria
192
What are the diagnostic and management options for UTI in children?
```
Collect urine:
MSU
Suprapubic aspirate (SPA)
Catheter
“Clean” catch/bag sample/pad sample
```
```
Analysis of urine:
Visual inspection
Dipstick
Nitrites
Leucocyte esterase
M,C & S
```
Management:
Acute treatment – antibiotic, fluids, pain relief
Investigation – imaging for underlying abnormality – dependent on age and type of infection
193
What are the further investigation options for UTI in children?
Ultrasound scan - Size and drainage of kidneys & bladder, Good for obstruction
Micturating
cystourethrogram(MCU) -Vesicoureteric reflux
Bladder
Posterior urethra
Dimercaptosuccinic acid (DMSA) scan -Radionuclide imaging, Asses relative renal function, Asses extent of renal “scarring”
Investigate more intensively in those under 6 months IE
Consider and individualise investigations for older children to maximise benefit and minimise radiation and trauma of investigations
194
What are the core symptoms of AHDH?
The three core symptoms of ADHD are inattention, impulsivity and hyperactivity when they are persistent and impact on daily functions.
```
Symptoms must also:
Present before 12 years
Be developmentally inappropriate
Be multiple and in 2 or more settings
Clear evidence symptoms interfere/reduce quality of social/academic/occupational function
```
195
What is the epidemiology of ADHD?
4-7% SCHOOL AGE CHILDREN
| MALES:FEMALE 4:1
196
what is Developmental coordination disorder (DCD)?
Developmental coordination disorder (DCD), also known as developmental dyspraxia or simply dyspraxia, is a chronic neurological disorder beginning in childhood. It is also known to affect planning of movements and co-ordination as a result of brain messages not being accurately transmitted to the body. Impairments in skilled motor movements per a child's chronological age which must interfere with activities of daily living. A diagnosis of DCD is then reached only in the absence of other neurological impairments like cerebral palsy, muscular dystrophy, multiple sclerosis or Parkinson's disease.
197
what is the epidemiology of Autism Spectrum disorder?
```
COMMON 1:100
½ MILLION IN U.K
BOYS:GIRLS 4:1
EXACT CAUSE UNKNOWN
GENETICS IMPORTANT
```
198
what is Autism Spectrum disorder?
A triad of:
Poor communication
Poor social interaction
Behavioural issues - poor imagination/rigidity of thought
199
what is the normal range for fasting and post-prandial plasma glucose?
Fasting = 3.5-5.6 mmol/l
| Post prandial = <7.8 mmol/l
200
What plasma glucose levels would be diagnostic for diabetes?
Diabetes
Fasting = ≥7.0mmol/L
Post OGTT = ≥11.1mmol/l
HbA1c = > 6.5%
201
What plasma glucose levels would be diagnostic for pre-diabetes?
Impaired Glucose Tolerance (IGT) / Pre-diabetes:
| Fasting = <7.0 mmol/l Post OGTT = >7.8 but <11.0 HbA1c = 5.7-6.4%
202
What is the incidence of childhood diabetes in the UK?
```
Prevalence of T1DM in UK children = 1/700-1000
22,000 under 17 year olds in England
97% have T1DM
1.5% have T2DM
1.5% have a rarer type
```
203
What are the main differences between Type 1 and Type 2 diabetes mellitus?
Type 1 diabetes due to β-cell destruction = no insulin production
Treat with Insulin
Type 2 diabetes due to (i) Progressive insulin secretory defect = very low insulin production or (ii) insulin resistance
Treat with Insulin and / or Diet and Exercise
Type 2 has higher risk of transmission than Type 1.
If either mother of father has diabetes increases risk of diabetes by 15% § If both mother and father have diabetes increases risk by 75%
If non-identical twin has diabetes increases risk by 10%
If identical twin has diabetes increases risk by 90% However, neither type 1 or type 2 diabetes may be entirely genetically determined
204
What is the management for Diabetic Keto Acidosis (DKA)?
Fluids - fLUID BEFORE INSULIN - but watch the fluid as children get cerebral oedema, and it kills
Insulin
Monitor glucose hourly
Monitor electrolytes, especially K+ and ketones - 2 hourly
Very strict fluid balance - hourly I/O
Hourly neuro obs
205
Name 5 autonomic and 5 Neuroglycopaenic symptoms of hypoglycaemia
```
Autonomic:
Irritable
Hungry
Nauseous
Shakey
Pallor
Anxious
Sweaty
Palpitations
Pallor
```
```
Neuroglycopaenic:
Dizzy
Headache
Confused
Drowsy
Visual problems
Hearing loss
Problem concentrating
Hearing loss
Slurred speech
Odd behaviour
Loss of conciousness
Convulsions
```
206
Management of mild, moderate and sever hypoglycaemia?
MILD:
Check blood glucose to confirm
3-5 glucose tablets
100-200ml fizzy drink (not diet) or juice
60-100mls lucozade
Wait 10 minutes - if no improvement repeat
Follow up with longer acting carb (bread/biscuit)
Check BG in 15 minutes
MODERATE:
As for mild if possible
If too unwell - 0.5-1 tube glucogel
Wait 10 minutes - if no improvement repeat
Follow up with longer acting carb (bread/biscuit)
Check BG in 15 minutes
```
SEVERE:
Do not attempt to give anything by mouth
Glucagon - s/c or i/m injection
if < 5 years = 0.5mg
if > 5 years = 1mg
Wait 10 minutes
When conscious give sugary food
```
207
What is the definition for failure to thrive?
Failure to gain adequate weight or achieve adequate growth at a normal rate for age OR suboptimal weight gain in infants and toddlers
At least 2 growth measurements needed 3-6 months apart, showing the child falls across two major centile lines (severe being a fall across 3 centile lines)
Between 6 weeks and 1 year of age, only 5% of children will cross 2 linwes and only 1% will cross 3 lines
Weight of a child with FTT may fall within the normal range but most are below 2nd centile when identified
The further the weight is below the 2nd centile, the more likely the child is failing to thrive
A weight below the 2nd centile should always trigger an evaluation
208
What is the definition of osteoperosis?
a disease characterised by low bone mass and microarchitectural deterioration of bone tissue, leading to enhanced bone fragility and a consequent increase in fracture risk
Osteoperosis in children:
1 or more vertebral crush fractures
Or
Size-adjusted bone density
209
Name 2 inherited and 2 acquired causes of Osteoperosis in children.
Inherited/congenital:
Osteogenesis imperfecta
Inborn errors eg galactosemia
Idiopathic
```
Acquired:
Drug-induced - especially steroids
Major endocrinopathies
Malabsorption
immobilisation
```
210
How would Osteogenesis Imperfecta typically present?
```
Presentation:
Bone fragility, fractures and deformity (Bone tissue property = BRITTLE as well as fragile)
Bone pain
Impaired mobility
Poor growth
Deafness, blue sclera
```
Prevalence approx 1 in 15,000-1 in 20 000
Autosomal dominant inheritance in 85-90%
Mostly caused by defects in type I collagen genes
211
How is Osteogenesis Imperfecta classified?
```
Sillence classification (1979)
I – mild
II – lethal
III – progressively deforming, severe
IV – moderate
Current classification – 5 types
```
212
What characteristic finding may you see on a skull xray of a child with Osteogenesis Imperfecta?
Wormian bones - extra bone pieces that can occur within a suture (joint) in the cranium
213
What characteristic findings may you see on a leg xray of a child with Rickets?
Bowed legs
Splayed metaphyses
Frayed metaphyses
214
What is Rickets and what is its aetiology?
Vitamin D deficiency that leads to under calcified bones.
Vitamin D Makes calcium available:
Increases calcium absorption from the gut
Increases calcium release from bone
```
Causes:
Evidence of maternal vitamin D insufficiency
Lack of child’s exposure to sunlight
Lack of vitamin D in diet
Prolonged unsupplemented breast feeding
```
215
How would a child with Rickets present?
```
Clinically
Metaphyseal swellings
Bowing deformities
Slowing of linear growth
Motor delay
Hypotonia
Fractures
Respiratory distress
Pathologically
Failure to mineralise new bone
```
216
what biochemical disturbances would be seen in a child with Rickets?
```
Fasting hypophosphatemia
Serum calcium variable
Raised serum alkaline phosphatase
In vitamin D deficiency
Raised PTH, low 25 OH-D
In inherited hypophosphatemic rickets
Normal PTH, 25 OH-D at diagnosis
Inappropriately low 1,25 (OH)2 D
```
217
What is the treatment for Rickets?
Treat underlying problem!
Vitamin D deficiency causing hypocalcaemia:
Vitamin D + calcium
Vitamin D deficiency causing rickets:
Vitamin D (± calcium)
Age 0-23 months:- 3,000 IU/d for 2 months
Age 2-10 years:- 6,000 IU/d for 2 months
Age >10 years :- 10,000 IU/d for 2 months
Compliance issues – give Stoss therapy (single high dose oral vitamin D3)
300-600,000 IU stat
218
Name 2 life threatening complication in undiagnosed Rickets?
Cardiomyopathy
| Hypocalcaemic convulsions
219
What are the clinical findings for an Atrial Septal Defect?
Asymptomatic when younger
Fixed and widely split S 2
Ejection Systolic murmur in pulmonary area
Older children and adults get signs and symptoms: Fixed splitting ,Ejection Systolic Murmur, Palpitations
Types of ASD:
Ostium Secundum
Ostium Primum
Sinus Venosus ASD
220
What are the clinical findings for a Patent Ductos Arteriosus?
Usually preterm babies
Poor feeding, failure to thrive tachypnoea
Active precordium,Thrill, Gallop rhythm
Classical continuous machinery murmur pulmonary area
Hepatomegaly,oedema
221
What are the clinical findings for an Ventricular Septal Defect?
Even large VSD’s may not present symptomatically until Pulmonary Vascular Resistance has fallen
Poor feeding ,failure to thrive ,tachypnoea
Active precordium,Thrill ,Gallop rhythm
Pan systolic murmur best heard in LLSE transmits to upper sternal edge and axillae
Hepatomegaly ,oedema
222
What are the clinical findings for an Atrio-Ventricular Septal Defect?
Common defect in Trisomy 21
Can lead more rapidly to Pulmonary Vascular disease so important to screen all children with down’s syndrome with Echocardiograms
Poor feeding ,failure to thrive, tachypnoea
Active precordium ,Thrill ,Gallop rhythm
Hepatomegaly ,oedema
Murmur arises from the valvular regurgitation rather than septal defects
223
What are the clinical findings for Coarctation of the Aorta?
Coarctation of the aorta is a narrowing of the aorta usually just after the aortic arch.
Weak femoral pulses
Always compare to brachials
Pre and post ductal difference in saturations(but only if duct open)
4 limb BP: Discrepancy between upper limb and lower limb blood pressure
Older children murmur over back (after collaterals develop)
If duct has closed/ is closing these babies present collapsed and acidotic
224
What are the clinical findings for Aortic stenosis?
Aortic stenosis is narrowing of the aortic valve
Weak Pulses
Thrill palpable in suprasternal region and carotid area
Ejection systolic murmur in aortic area
If critical aortic stenosis then child presents collapsed and acidotic
225
What are the clinical findings for Pulmonary stenosis stenosis?
Pulmonary stenosis is narrowing of the pulmonary valve
Ejection systolic Murmur in the Left Upper sternal edge
Murmur often radiates to the back especially if the pulmonary branches are also stenosed
Right Ventricular heave (if significant stenosis)
226
What is Tetrallogy of fallot and how would it present?
Tetralogy of Fallot (TOF) is a type of heart defect present at birth. Symptoms include episodes of bluish color to the skin. When affected babies cry or have a bowel movement, they may develop a "tet spell" where they turn very blue, have difficulty breathing, become limp, and occasionally lose consciousness. Other symptoms may include a heart murmur, finger clubbing, and easy tiring upon breastfeeding.
```
Classically there are four defects:
Pulmonary stenosis
Ventricular septal defect,
Right ventricular hypertrophy
Overriding aorta - which allows blood from both ventricles to enter the aorta
```
Depending on lesion,severity,age etc:
Cyanosis
Acidosis
Collapse/ Death
227
What is Transposition of the great vessels and how would it present?
Transposition of the great vessels (TGV) is a group of congenital heart defects involving an abnormal spatial arrangement of any of the great vessels: superior and/or inferior venae cavae, pulmonary artery, pulmonary veins, and aorta. Congenital heart diseases involving only the primary arteries (pulmonary artery and aorta) belong to a sub-group called transposition of the great arteries.
Depending on lesion,severity,age etc:
Cyanosis
Acidosis
Collapse/ Death
228
Describe the 4 levels of hearing loss and the associated level of impairment for each category.
Mild (20 – 40 dBHL). Difficulty in background noise.
Moderate (41 - 70 dBHL) Will benefit from a hearing aid. May not be able to use a telephone even with a hearing aid.
Severe (71 - 95 dBHL) Hearing aid will be of some use. Will not be able to use conventional telephone. May use sign language.
Profound (96+ dBHL) a hearing aid will be of no real benefit. May hear some environmental noises when wearing it. Usually use sign language. Cochlear implant candidate.
229
What are the different tests for hearing?
Objective Testing:
Otoacoustic Emissions
Auditory Brainstem Response
```
Behavioural Testing:
Distraction Testing
Visual Reinforcement Audiometry
Performance Testing
Pure Tone Audiometry
Speech Discrimination Testing
```
230
what are the causes of conductive hearing loss?
```
Glue ear
Ear wax
Middle ear infection
Perforated eardrum
Abnormality of the outer ear
Eustachian tube dysfunction
```
231
What is the management of conductive hearing loss?
Most conductive losses will resolve themselves over time or are operable.
Hearing Aids may be offered for persistent losses (as an alternative to grommet insertion)
In the case of permanent conductive losses, Bone Anchored Hearing Aid (BAHA) may be fitted.
232
What is the management of sensori-neural hearing loss?
Sensori-neural losses are usually permanent
These losses are usually managed by hearing aids
The aim is to raise the level of hearing so that as much speech is as audible as possible
In the case of profound hearing losses, who cannot receive sufficient benefit from hearing aids, cochlear implants may be recommended.
233
what are the causes of sensori-neural hearing loss?
Acoustic trauma (injury caused by loud noise) can damage hair cells.
Certain viral or bacterial infections such as mumps or meningitis can lead to loss of hair cells or other damage to the auditory nerve.
Ménière’s disease, which causes dizziness, tinnitus, and hearing loss.
Certain drugs, such as some powerful antibiotics, can cause permanent hearing loss. At high doses, aspirin is thought to cause temporary tinnitus – a persistent ringing in the ears. The antimalarial drug quinine can also cause tinnitus, but it’s not thought to cause permanent damage.
Acoustic neuroma. This is a benign (non-cancerous) tumour affecting the auditory nerve. It needs to be observed and is sometimes treated with surgery.
Other neurological (affecting the brain or nervous system) conditions such as multiple sclerosis, stroke, or a brain tumour.
234
at what age is a baby considered pre-term?
<37 weeks gestation
235
Why are premature babies at higher risk of sepsis?
Last three months of gestation is when active IgG transfer occurs
The more premature you are, the less IgG you get
Cell mediated immunity is less active as well
Multiple invasive procedures increases the risk of sepsis
Infection with organisms that are not normally pathogenic: Group B Strep, Pseudomonas, Coagulase negative staph
As well as with bacteria that are pathogenic
Fungal sepsis as a result of needing lots of antibiotics and poor immune function
236
Why does retinopathy of prematurity occur?
```
Hyperoxic insult
Arrest of normal vascular growth
Fibrous ridge forms
Vascular proliferation
Retinal haemorrhages
Retinal detachment
Blindness
If high risk changes:
laser therapy
```
237
Why are premature infants at increased risk of respiratory distress?
Little or no:
Surfactant- retained in type 2 pneumocytes
Alveoli - absent at 24 weeks then exponential increase towards term
Very common mode of death
Lung damage worse by: oxygen, sepsis, ventilation
238
Which 4 ppathogens commonly cause Acute Otitis Media?
Common for children <5y
Respiratory pathogens:
S Pneumoniae, H Influenza, M Catarrhalis and S Pyogenes
Pain, pyrexia, unwell, otorrhoea
History is key: otalgia, URTI, ear tugging
239
what are the extracranial complications associated with Acute Otitis Media?
Mastoiditis:
Presents with ear protrusion and postauricular swelling and redness
Tympanic Membrane perforation
Other complications:
Facial nerve palsy, acute labyrinthitis, petrositis, development of chronic otitis media and acute necrotic otitis
240
what are the intracranial complications associated with Acute Otitis Media?
```
Meningitis
Extradural abscess
Subdural abscess
Cerebral abscess
Lateral sinus thrombosis
```
Epidural abscess
Brain abscess
241
What is the treatment for recurrent Acute Otitis Media?
Analgesia
Repeat antibiotic courses
Antibiotic prophylaxis
Grommet insertion
242
what is Glue ear?
Otitis media with effusion
```
Common
2 yrs and 5 yrs
Hearing loss
eustachian tube Immaturity
Adenoidal hypertrophy
```
```
Predisposing factors:
Older sibling
Male sex
Breast feeding - to a variable extent
Day care attendance
Parental smoking
Immune deficiency
Allergy
Reflux (Tasker et al, 2002)
Anatomical abnormalities- Cleft palate
```
243
what is the treatment for glue ear?
```
Watch and wait 3/12
50% will get better
No medical treatment
Ventilation tubes
Adenoidectomy
Hearing aids
```
244
Projectile vomiting in a newborn is the hallmark symptom of which condition?
pyloric stenosis
245
what would you suspect in a newborn with Bilious vomiting?
Intestinal obstruction with bilious vomiting in neonates can be caused by duodenal atresia, malrotation and volvulus, jejunoileal atresia, meconium ileus, and necrotizing enterocolitis
```
Duodenal atresia:
1 in 5000
associated with Trisomy 21
VACTERL association
“double bubble” sign on xray
90% have bilious vomiting
```
246
What would you suspect in a chlid presenting with non-specific abdominal pain and rectal bleeding?
poorly localizing abdominal pain combined with bleeding should make the physician consider a rarer condition, like intussusception or volvulus
other causes:
colitis, infection or IBD
Black blood (melena) implies bleeding in the esophagus, stomach or duodenum. Maroon-colored stool suggests small intestinal bleeding (e.g., from a Meckel diverticulum). Bright red blood suggests a colonic or rectal source.
247
What would you suspect in a chlid presenting with non-painful rectal bleeding?
polyp or Meckel’s diverticulae
Black blood (melena) implies bleeding in the esophagus, stomach or duodenum. Maroon-colored stool suggests small intestinal bleeding (e.g., from a Meckel diverticulum). Bright red blood suggests a colonic or rectal source.
248
Which condition is associate with dermatitis Herpetiformis?
Coeliac disease
```
Rash - erythematous
macules/urticarial papules
tense vesicles
•Severe pruritus
•Symmetric distribution
•90% no GI symptoms
•75% villous atrophy
•gluten sensitive
```
249
Which antibodies are present in Coeliac disease?
Anti-Gliadin (alpha gliadin)
Anti-Endomysium
Anti-Tissue Transglutaminase
Anti-Reticulin (variable sensitivity)
250
What are the diagnostic criteria for Coeliac disease?
Characteristic histology (Marsh type III a - c)
Positive serology
Symptomatic response to gluten exclusion
Resolution of antibodies
251
What are the types and causes of childhood strabismus?
Esotropia - one eye inward
Exotropia - one eye outward
Hypertropia - one eye upward
Hypotropia - one eye downward
Generally accepted multifactorial but the main
contributory factors are:
Hereditary: 60% of children affected have a close relative with strabismus
Refractive errors:
1. most commonly uncorrected hypermetropia (long-sighted) and accommodative esotropia
2. anisometropia (each eye is either long or short sighted) and development of amblyopia (lazy eye)
252
What is Latent Strabismus?
The eyes are straight when both eyes are open but a deviation of the visual axes can be elicited when each eye is covered
253
What is Plagiocephaly?
(Unilateral coronal synostosis) :Premature fusion of 1 coronal suture Asymmetric growth of skull. Affected side: forehead flat, orbit & superior orbital rim elevated
Unaffected side: prominent forehead
254
what is an astigmatism?
a defect in the eye or in a lens caused by a deviation from spherical curvature, which results in distorted images, as light rays are prevented from meeting at a common focus.
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what is Moebius syndrome?
Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital).
There is often lack of facial tone & convergent position of the eyes
resulting from paralysis of the VIth & VIIth cranial nerves
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When is testicular torsion most likely to occur?
in neonates and in puberty
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How would testicular torsion present?
Sudden onset pain
Often so severe > vomit
testicle is tender
redness and swelling are LATE signs
Always examine the testes in males with acute abdominal pain.
The only way to diagnose testicular torsion is to explore the scrotum surgically.
The only way to diagnose acute scrotal pain reliably is to explore the scrotum surgically.
You have 6 hours to save the testicle!
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What is torsion of appendix testis?
tosion of the hydatid of Morgagni = the appendix testis
It is a remnant of paramesonephric (Mullerian) duct
It mimics testicular torsion
often in prepubertal boys
pain not usually as severe
or as acute onset as torsion
can be a “blue dot” (1/3 of cases)
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What is BXO?
Balanitis Xerotica Obliterans (BXO) is a chronic, often progressive disease, which can lead to phimosis and urethral stenosis, affecting both urinary and sexual function. Steroid creams are usually the first-line treatment but have a limited role and surgical intervention is frequently necessary.
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What is Hypospadias?
a congenital condition in males in which the opening of the urethra is on the underside of the penis.
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What is a Phimosis?
a congenital narrowing of the opening of the foreskin so that it cannot be retracted.
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What is most commonly associated with Hypospadias and what does the combination of findings indicate?
he most common associated defect is an undescended testicle (cryptorchidism), which has been reported in around 3% of infants with distal hypospadias and 10% of those having proximal hypospadias.
The combination of hypospadias and an undescended testicle sometimes indicates a disorder of sexual differentiation, and so additional testing may be recommended
263
What is Gastroschisis?
astroschisis is a birth defect in which the baby's intestines extend outside of the body through a hole next to the belly button. The size of the hole is variable, and other organs including the stomach and liver may also occur outside the baby's body. Complications may include feeding problems, prematurity, intestinal atresia, and intrauterine growth retardation.
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What is Exomphalos?
Omphalocele, also called exomphalos, is a rare abdominal wall defect in which the intestines, liver and occasionally other organs remain outside of the abdomen in a sac because of failure of the normal return of intestines and other contents back to the abdominal cavity during around the ninth week of intrauterine development.
Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities. About 30% of infants with an omphalocele have other congenital abnormalities.
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What is VACTERL association?
VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm.
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V - Vertebral anomalies
A - Anorectal malformations
C - Cardiovascular anomalies
T - Tracheoesophageal fistula
E - Esophageal atresia
R - Renal (Kidney) and/or radial anomalies
L - Limb defects
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The VACTERL association (also VATER association) refers to a recognized group of birth defects which tend to co-occur (see below). Note that this pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
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What is Hirschsprung’s disease?
Distal aganglionosis (lack of innervation) of the large intestine.
1 in 5000!
Failure to pass meconium (normally 95% by 24hrs/age)
Progressive abdominal distension
Usually treated with washouts then pull through operation
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What is Meconium ileus?
Thick intestinal secretions form pellets that blocks the terminal ileum
Normally needs laparotomy
= 10% of CF patients
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What is the hallmark of an upper motor neuron abnormality in the infant?
Persistence of primitive reflexes and the lack of development of the postural reflexes
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What condition is associated with ash leaf lesions?
Tuberous sclerosis.
≥ 3 lesions is diagnostic for TS
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin.
epilepsy, low intelligence, adenoma sebaceum
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What is Cerebral Palsy?
An umbrella term covering a group of motor impairment syndromes secondary to non progressive lesions or anomalies in the brain arising in the early stages of development.
In most cases anomaly occurs pre or perinatally.
