Paediatrics & Neonatology - Finals Flashcards
(193 cards)
1
Q
Risk factors for neonatal sepsis: (5)
A
Maternal GBS infection
Maternal fever
PROM
Chorioamnionitis
Premature delivery
2
Q
Tx for sepsis with GBS in neonates:
A
Benzylpenicillin & gentamicin
(Don’t forget to get blood cultures before starting abx, also monitor CRP)
3
Q
What type of maintenance fluids do you give to neonates?
A
10% dextrose with 2-3 mmol/kg/day Na+ and 1-2 mmol/kg/day K+
4
Q
What volume of maintenance fluids should you give to a neonate?
A
Day 1 = 60 mls/kg
Day 2 = 90 mls/kg
Day 3 = 120 mls/kg
Day 4 = 150 mls/kg
5
Q
What will investigations show in neonatal hepatitis?
A
Raised unconjugated bilirubin
Raised conjugated bilirubin
Deranged LFTs
Biopsy: rosette formations, multinucleated giant cells
6
Q
4 risk factors for meconium aspiration:
A
Post-term delivery
Pre-eclampsia
Chorioamnionitis
Smoking/substance abuse
7
Q
4 possible complications of meconium aspiration:
A
Pneumothorax
Hyperinflation
Consolidation
Persistent pulmonary HTN of the newborn (leading to left to right shunt, very dangerous)
8
Q
What level of CBG indicates neonatal hypoglycaemia?
A
<2.6 mmol/L
9
Q
6 risk factors for neonatal hypoglycaemia:
A
Maternal diabetes
Maternal hypertension (NB: ALL babies whose mother who took labetalol need glucose monitoring)
Preterm birth
Hypothermia
Sepsis
Inborn errors of metabolism
10
Q
What is transient tachypnoea of the newborn?
A
A delay in the resorption of fluid in the lungs at birth. This is the most common cause of respiratory distress syndrome in newborns. Risk increased with c-section delivery. Might show hyperinflation and fluid in the horizontal fissure on CXR.
11
Q
3 signs seen on a CXR in a baby with RDS:
A
Ground glass appearance
Indistinct heart border
Air bronchograms
12
Q
How is RDS managed in newborns?
A
Corticosteroids
Exogenous surfactant via endotracheal tube
O2 support
13
Q
What is retinopathy of prematurity?
A
Premature babies given too much oxygen can go blind
14
Q
What staging system is used to classify hypoxic ischaemic encephalopathy at birth?
A
Sarnat staging:
Mild → resolves in 24 hours
Moderate → up to 40% develop cerebral palsy
Severe → 50% mortality, 90% develop cerebral palsy
15
Q
What is hypoxic ischaemic encephalopathy? How is it managed?
A
Damage to the brain due to hypoxia during birth.
Therapeutic hypothermia for 72 horus, target of 33 to 34 degrees, monitored via a rectal probe.
16
Q
3 complications of toxoplasmosis infection during pregnancy:
A
Baby can develop:
- Intracranial calcification
- Hydrocephalus
- Eye problems (inflammation of the choroid and retina)
17
Q
Congenital rubella syndrome: (3)
A
- Cataracts
- PDA/pulmonary stenosis
- Learning disability/cerebral palsy
18
Q
Neonatal CMV: (3)
A
- Microencephaly
- Fetal growth restriction
- Seizures
19
Q
Congential herpes simplex: (2)
A
Limb hypoplasia
Cortical atrophy
20
Q
Severe complications of parvovirus B19 during pregnancy:
A
Fetal anaemia
Hydrops fetalis
Pre-eclampsia-like syndrome
Fetal death
21
Q
What is physiological jaundice?
A
A normal rise in bilirubin shortly after birth causing a mild yellowing of the skin and sclera from day TWO to day SEVEN.
Should be completely resolved by day TEN.
22
Q
What is breastmilk jaundice?
A
Components of breastmilk can inhibit the liver’s ability to process bilirubin, breastfed babies are also more likely to become dehydrated and pass stools slower → jaundice.
23
Q
Is newborn jaundice within 24 hours of birth physiological or pathological?
A
ALWAYS pathological - check serum bilirubin within 2 hours, see if they reach the threshold for exchange transfusion or phototherapy
24
Q
What qualifies as prolonged jaundice in newborns? Give 4 possible causes:
A
> 14 days in term babies
21 days in premature babies
Hypothyroidism
Biliary atresia
G6PD
25
Causes of jaundice within 24 hours of birth:
Rhesus disease
ABO haemolytic disease
Hereditary spherocytosis
G6PD
26
How does phototherapy treat jaundice in newborns?
Converts unconjugated bilirubin into isomers that are excreted in the bile/urine without requiring conjugation in the liver
NB: watch out for rebound 12-18 hours after tx stops
27
4 examples of heart conditions that cause left to right shunt in newborns:
Atrial septal defect
Ventricular septal defect
Atrioventricular septal defect
Patent ductus arteriosus
28
Mx of a left to right shunt in a newborn: (4)
1. Increase calorie intake (NG feed)
2. Diuretics for oedema/HF
3. ACEi to reduce afterload
4. Surgical or catheter device closure of heart defect
29
A harsh loud pansytolic murmur might indicate what heart defect?
What complicated should you monitor for?
VSD
Infective endocarditis
30
What murmur does a PDA cause? How do you treat PDA?
Continuous machinery murmur
Ibuprofen or indomethacin
31
What's the difference between the two types of ASD?
ostium primum: defect at the bottom of the septum, close to the valves, associated with a VSD
ostium secundum: defect in the middle of the septum
32
How does an atrial septal defect present? What complication can arise?
Normally asymptomatic until older age where you can get palpitations and a systolic murmur.
Stretching of the RA can lead to BBB.
33
What heart defect is associated with Down's syndrome?
What complication can this lead to?
Atrioventricular septal defect (AVSD)
Can rapidly lead to pulmonary vascular disease.
34
What is coarctation of the aorta and how does it present?
Narrowing of the aorta proximal to the ductus arteriosus.
Weak femoral pulses
Discrepancy between upper and lower limb BP
Pre and post ductal difference in saturations (if ductus arteriosus is open)
Baby's survival is dependent on keeping the DA open!
35
What are the following:
Ductus arteriosus
Foramen ovale
Ductus venosus
Ductus arteriosus: connection between the pulmonary artery and the aorta to allow blood to bypass pulmonary circulation
Foramen ovale: connection between the atria to allow blood to bypass the right ventricle and pulmonary circulation
Ductus venosus: connects the umbilical vein to the inferior vena cava and allows blood to bypass the liver.
36
What is tetralogy of fallot? Is it a cyanotic or acyanotic heart condition?
Heart condition involving:
- Pulmonary valve stenosis
- Large VSD
- Overriding aorta
- RVH
Cyanotic heart condition = causes cyanotic spells
37
How do you manage ToF?
Acute cyanotic spell: propranolol, squat with knees to chest
Surgical repair at 6-9 months old
38
Biopsy findings in ulcerative collitis:
Superficial mucosa inflammation
Crypt abcesses
Globlet cell depletion
Plasma cells in the lamina propria
39
Which genes is coeliac disease associated with?
HLA-DQ2 (90%) and HLA-DQ8
40
What is an omphalocele?
AKA exomphalos
A congenital defect where the contents of the abdomen herniate through the umbilical ring covered in a thin membrane
41
4 acyanotic congential heart defects:
3 cyanotic congenital heart defects:
Acyanotic:
- ASD
- VSD
- PDA
- Coarctation of the aorta
Cyanotic:
- ToF
- Transposition of the great arteries
- Tricsupid atresia
42
What is gatroschisis?
A congenital defect where the abdominal contexts hernitate through the abdominal wall with no membrane covering the contents
Schedule pre-term delivery, parentral feeding, temporary sac protection, then surgical repair!
43
3 risk factors for NEC:
Pre-term/low birth weight
Non-breastfed (formula or cow's milk)
RDS and assisted ventilation
44
NEC signs on an AXR: (5)
Dilated bowel loops
Intramural gas
Rigler's sign (air inside and outside bowel wall)
Football sign (air outling the falciform ligament)
Bowel wall oedema
45
Tx for NEC
Nil by mouth
IV fluids
Total parentral nutrition (TPN)
Antibiotics
Immediate surgical referral for possible removal of necrotic bowel
46
What is Hirschsprungs disease?
How does it present? (3)
A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum.
1. Shiny distended abdomen
2. Failure to pass meconium within first 48 hours
3. Repeated vomiting
47
Tx for Hirschsprung's
Rectal washout/irrigation to prevent enterocolitis
Swenson's procedure to remove aganglionic segment and create end-to-end anastomosis
48
Mx of GORD in babies:
Advice:
- Thicken feeds
- Correct feeding position (keep upright after feeding)
- Change type of feed
Medications:
- Gaviscon
- H2 blocker
- PPI
49
What medication do you give to maintain a patent ductus arteriosus? When is this necessary?
Prostanglandin E1
Cyanotic congential heart disease
50
What syndrome is associated with coarctation of the aorta?
Turner's
51
What is biliary atresia?
Extrahepatic bile ducts are obliterated by inflammation and subsequent fibrosis - unknown cause, common in Down's syndrome
52
Presentation of biliary atresia:
Tx:
Presents shortly after birth (2 days)
Jaundice (build up of conjugated bilirubin)
Pale stools
Dark urine
Failure to thrive
Tx: Kasai procedure
53
What sign is seen on an AXR that indicates duodenal atresia?
Double bubble sign
54
What is the APGAR score?
When is it measured?
Used to assess newborn health, assessed at 1 and 5 mins of age.
Appearance
Pulse
Resp effort
Colour
Muscle tone
Reflex irritability
Score of 7-10 means the baby is in a good state
55
Triad of shaken baby syndrome:
1. Retinal haemorrhage
2. Subdural haematoma
3. Encephalopathy
56
What investigation is needed to diagnose intersussception?
USS abdomen
57
Which movements are lost/reduced in slipped capital femoral epiphysis?
Internal rotation of the leg in flexion
58
How do you manage Kawasaki disease?
High dose aspirin
IV immunoglobulins
Close monitoring and follow up with echo
59
What murmur might you hear in ToF?
Ejection systolic murmur due to pulmonary stenosis (the vsd doesn't usually cause a murmur)
60
How might oesophageal atresia with a tracheo-oesophageal fistula present?
Cyanotic episodes on feeding
Respiratory distress
Aspiration
Salivation/drooling
61
Which is the most common type of oesophageal atresia with a TOF:
Type C: blind pouch OA with a distal TOF
62
How does gastrointestinal malrotation present?
In the first few days of life
Bilious vomiting
63
How do you diagnose gastrointestinal malrotation?
How do you treat it?
Plain XR or upper GI contrast study
Ladd's procedure
64
What is a congenital diaphragmatic hernia?
A congenital condition ranging from thinning to complete absence of the diaphragm.
65
How does a congenital diaphragmatic hernia present? (4)
1. Scaphoid abdomen
2. Respiratory distress
3. Heart sounds louder on the right side
4. Tinkling bowel sounds
66
Common causes of gastroenteritis in children - 4 bacterial, 1 viral:
Bacterial:
- Campylobacter jejuni
- E.coli
- Salmonella
- Shigella
Viral:
- Rotavirus
67
How do you manage gastroenteritis in children?
Oral rehydration solution 50ml/kg over four hours
Supportive feeds
68
How does interssusception present? (5)
1. Intermittent colicky abdo pain
2. Sausage shaped mass
3. Red current jelly stools (late sign)
4. Vomiting
5. Drawing up legs
69
Two imaging investigations for interssusception and what you would find:
USS: target/donut sign
AXR: dilated proximal bowel loops
70
Tx of intersussception:
Pneumatic reduction enema/rectal air insufflation
71
4 long term consequences of constipation:
1. Acquired megacolon
2. Anal fissures
3. Overflow incontinence
4. Behavioural problems
72
1st, 2nd and 3rd line tx for constipation:
1. Osmotic laxative - movicol
2. Stimulant laxative - senna (avoid prolonged use, causes atonic colon and hypokalaemia)
3. Enema, manual evacuation
NB: docusate/lacutulose is a stool softener you can give alongside a laxative
73
What is toddler's diarrhoea? What advice can you give to parents?
A chronic non-specific diarrhoea in an otherwise well child with no underlying pathology.
Work on the four f's:
Fat - diet should be 35-40% fat
Fluid - drink lots of fluid
Fruit juice - avoid drinking to much sugary drinks
Fibre - eat the right amount of fibre (not too much/not too little)
74
What is pyloric stenosis?
Thickening of the muscles of the pylorus, making the passage between the stomach and small bowel narrower.
75
How does pyloric stenosis present? (3 key symptoms, 4 other symptoms)
1. 2-4 weeks after birth
2. Projective vomiting (~30 mins after a feed)
3. Palpable 'olive' shaped mass in RUQ
1. Constant/persistent hunger
2. Weight loss
3. Constipation
4. Dehydration
76
What electrolyte abnormality would you get with pyloric stenosis?
Hypochloraemic hypokalaemic alkalosis
77
How do you treat pyloric stenosis?
Ramstedt's pylorotomy
78
Give a cause of nephritic syndrome:
Acute post-streptococcal glomerulonephritis (APSGN)
79
How do you treat nephritic syndrome/ASPGN?
Supportive tx
Penicillin for 2 weeks
May need dialysis (uncommon)
80
What is acute PSGN?
Group B haemolytic strep initiate a type III hypersensitivity reaction, immune complexes are deposited in the glomerular basement membrane, triggering inflammation and causing....
1. Haematuria (coco-cola urine)
2. Oliguria
3. hypertension
81
Give a cause of nephrotic syndrome:
Minimal change disease
82
How do you treat steroid sensitive nephrotic syndrome?
60 mg/m² of steroids for 4 weeks, then 40mg/m² on alternate days for 4 more weeks
83
Why does nephrotic syndrome increase your risk of infection and thrombosis?
Due to the loss of other important proteins (antibodies, clotting factors) in the urine as well as albumin
84
What is PUV? (posterior urethral valves)
A congenital malformation in boys where the urethra is blocked by flaps of tissues.
Normally picked up during pregnancy or when investigating urinary problems after birth.
Can result in hydropnephrosis.
85
What is hypospadius?
A congenital malformation where the urethral opening is not in the usual location on the head of the penis.
In 90% of cases the meatus is instead on or near the glans penis (distal hypospadius).
86
What is the definition of a UTI?
10⁵ organisms/ml on urine culture
87
How do you investigate a UTI?
Clean catch urine - this may require a suprapubic catheter
88
How do you treat a lower UTI in a child >3 months old?
3 days of oral trimethoprim or nitrofurantoin
89
How do you treat an upper UTI in a child > 3 months old?
7 to 10 days oral cefalexin or co-amoxiclav
90
How do you treat a UTI in a child <3 months old?
minimum of 2 to 4 days IV antibiotics, followed by oral antibiotics
91
What further investigations can you do following an atypical UTI?
DMSA for renal scarring
MCUG for reflux
USS kidney for size and drainage
92
What causes nocturnal urinary incontinence? (3)
1. Disorder of sleep arousal
2. Bladder factors - capacity, overactive
3. Noctural polyuria due to low overnight vasopressin (ADH)
93
1st, 2nd and 3rd line tx for nocturnal urinary incontinence:
1st = lifestyle advice (stop drinking X mins before bed etc.)
2nd = wobble watch
3rd = desmopressin taken 1 hour before bed, then cannot drink for 8 hours due to risk of hypoNa
94
Management of daytime urinary incontinence: (3)
1. Behavioural advice
2. Laxatives (tx any contributing constipation)
3. Oxybutynin
95
At what age might undescended testes be corrected surgically?
~6 months
(correct before 18 months to avoid longterm subfertility)
96
4 complications/increased risks due to undescended testes:
Testicular torsion
Testicular trauma
Three-fold increased risk of cancer
Infertility
97
Peak incidence of testicular torsion is in what age group?
13 to 16 year olds
98
Px of testicular torsion (4 symptoms, 3 findings on examination)
Symptoms:
1. Onset during physical activity
2. Sudden severe unilateral testicular pain
3. N&V
4. Low abdo pain
Examination:
1. Red
2. Swollen
3. Absent cremasteric reflex
99
What is congenital adrenal hyperplasia?
An autosomal recessive condition resulting in UNDERPRODUCTION of aldosterone and cortisol, and the OVERPRODUCTION of androgens from birth.
Most commonly due to a deficiency in the 21-hydroxylase enzyme.
100
When does congenital adrenal hyperplasia in females present?
How does it present?
Severe cases tend to occur in female babies and present shortly after birth with:
- Virilised/ambigious genitalia (due to high testosterone)
- Hyponatraemia
- Hyperkalaemia
- Hypoglycaemia
Mild cases can occur in male or female babies and present during childhood or after puberty, with:
- Tall for age
- Facial hair (female)
- Absent periods (female)
- Large penis and small testes (male)
- Early puberty
- Deep voice
- hyperpigmentation of the skin due to raised ACTH
101
At what ages do febrile seizures typically occur?
6 months to 5 years
102
What is benign rolandic epilepsy?
Benign focal epilepsy, characterised by:
- Nocturnal seizures
- Facial twitching
- Aphasia
More commonly in boys aged 4-10 years
103
4 possible features of a focal seizure:
1. Hallucinations
2. Flashbacks
3. Deja vu
4. Strange behaviour
104
2 features of an absence seizure:
Blank stare
Lasts 10-20 seconds
105
What is an atonic seizure?
A 'drop attack'
Lasts <3 mins
106
What are infantile spasms?
What age group do they normally occur in?
Clusters of myoclonic spasms that occur on waking up.
Normally infants aged 4-8 months.
107
What is West syndrome? What are its three key components?
A rare syndrome involving:
- Infantile spasms
- Hypsarrhytmia (a classic EEG finding that occurs even between attacks)
- General learning disability
Very poor prognosis, 1/3 die by age 25
108
What is lennox-gastaut syndrome?
A rare syndrome involving:
- multiple types of epileptic seizures (inc. atonic)
- psychomotor delay (mood instability, personality disturbance)
- behavioural disorders(
109
How does juvenile mycolonic epilepsy present?
1. Onset in teen years
2. Early morning sudden myoclonic jerks ('throws their cereal across the room')
110
First line AED for the following types of epilepsy:
- generalised tonic clonic
- focal seizures
- absence seizures
- atonic seizures
- juvenile myoclonic epilepsy
Generalised tonic clonic, absence seizures, atonic seizures, juvenile myoclonic epilepsy: sodium valproate
Focal seizures: carbemazepine
Remember! Do not give sodium valproate to anyone of childbearing potential, give lamotrigine instead
111
2 early signs of cerebral palsy:
Retained primitive reflexes
Asymmetrical hand dominance before 12 months
112
4 types of cerebral palsy:
Spastic hypertonia (→UMN damage)
Dyskinetic (→basal ganglia damage) (aka athetoid)
Ataxic (→cerebellar damage)
Mixed
113
4 patterns of cerebral palsy:
1. Monoplegia - one limb affected
2. Hemiplegia - one side of body affected
3. Diplegia - four limbs affected but legs > arms
4. Quardriplegia - all four limbs affected
114
Describe Ortolani's test:
After a positive Barlow's test, Ortolani's test is used to check if the hip will relocate to the correct position.
Flex the baby's knee and hip to 90 degrees
With your index fingers placing anterior pressure on the greater trochanter, smoothly abduct the leg.
A 'clunk' as the femoral head goes back into the acetabulum is a positive result.
115
Describe Barlow's test:
Apply light pressure on the knee with the thumb and gently adduct the hip.
If the hip is unstable the femoral head will slip out of the acetabulum = positive.
116
All babies who are breech at 36 weeks gestation or delivery need an USS of their hips to screen for which condition?
Developmental dysplasia of the hip
117
What is developmental dysplasia of the hip?
Structural abnormality of the hips leading to instability and a tendency for subluxation or dislocation.
If untreated can cause abnormal gait and early degenerative changes in adulthood.
118
As well as a positive barlow/ortolani test, what might you find on examination that indicates developmental dysplasia of the hip?
Asymmetrical thigh skin folds
119
Management of developmental dysplasia of the hips:
Diagnosis before 6 months → Pavlik harness, usually worn constanly for 6-8 weeks until the hips stabilise
Surgery is required if diagnosed after 6 months of the harness fails.
120
What is Toddler's fracture? How is it treated?
A non-displaced spiral fracture of the tibia caused by a sudden twist when running/walking.
Immobilise, cast/splint.
121
A femur fracture in a child is a red flag for?
Possible non-accidental harm
122
Septic arthritis most commonly affects children at what age?
Which organism is most common?
<4 years old
s.aureus
123
What criteria is used to help differentiate septic arthritis from transient synovitis?
Kocher's criteria:
1. fever>38.5
2. Can't weight bear
3. ESR>40 in the first hour
4. WCC>12
One point for each criteria
Score 2/4 = 40% chance of septic arthritis
Score 3/4 = 93% chance
124
How might septic arthritis present? (7)
Child <4 years old
Pain at rest
Leg kept in 'frog' position
Red & tender joint
Reduced ROM
Refusal to weight bear
Fever
125
What is transient synovitis?
Sometimes referred to as 'irritable hip'.
Temporary irritation and inflammation in the synovial membrane of the hip joint.
It is the most common cause of hip pain in children aged 3-10.
126
Features of transient synovitis: (7)
1. Age 3-10 years
2. Boys>girls
3. Preceeded by a viral infection
4. Passive movements painful at the extremes of ROM
5. NO pain at rest
6. Acute onset
7. May limp/refuse to walk
127
How do you manage transient synovitis?
Rest
Physio
Should resolve in <2 weeks
128
What is Perthe's disease? What demographic does it normally affect/risk factors?
Ichaemia and necrosis of the femoral head.
Risk factors: low birth weight, low SES, passive smoking, short stature, children aged 5 to 10
129
How does Perthe's disease present?
Slow onset
Hip/groin pain
Limping gait
Referred knee pain
NO history of trauma
Typically 4 to 8 years old
130
Mx of Perthe's disease:
Analgesia
Physio
Crutches
Xrays to assess healing
131
What is slipped capital femoral epiphysis?
Head of the femur is displaced along the growth plate.
132
Px of slipped capital femoral epiphysis: (5)
1. Recent hx of minor trauma
2. Boys > girls
3. Aged 8-15 years
4. More common in obese children
5. Restricted internal rotation
Diagnosis requires an XR
133
Tx of slipped capital femoral epiphysis;
surgery to correct position of femoral head and fix it in place
134
What is osteogenesis imperfecta?
An autosomal dominant condition resulting in deficient formation of collagen.
135
Px of osteogenesis imperfecta: (6)
1. Blue sclera
2. Hypermobile
3. Teeth problems
4. Short stature
5. Bowed legs & scoliosis
6. Brittle bones → frequent fractures
136
Tx of osteogenesis imperfecta:
Bisphosphonates
Vitamin D
137
What is juvenile idiopathic arthritis?
Joint inflammation in children <16 years for at least 6 weeks with all other causes ruled out.
HLA-B27 positive.
138
What is osgood-schlatter disease?
a type of oscteochondrosis caused by inflammation at the tibital tuberosity.
Common in active young children.
139
What is henoch-schnolein purpura? What are the four classic features?
An IgA mediated small vessel vasculitis, triggered by tonsillitis or gastroenteritis.
The four classic features are:
Purpura (100%),
Joint pain (75%),
Abdominal pain (50%)
Renal involvement (50%)
140
How does HSP present?
1. Palpable purpuric rash on: back of legs, ulnar side of arms, buttocks. Spares the trunk!
2. Abdo pain (50%)
3. Joint pain (75%)
4. IgA nephritis (50%)
141
4 possible complications of HSP:
1. Intersussception
2. Nephrotic syndrome
3. Joint pain
4. Arthritis
142
How is HSP managed?
Supportive - should fully recover within 4 to 6 weeks
143
What is Kawaski disease?
A systemic medium sized vessel vasculitis. Typically in children under 5 years old, and more common in Japanese and Korean boys.
144
Diagnostic criteria for Kawasaki disease:
Fever >39 degrees for at least 5 days and as least four of the following:
1. Cervical lymphadenopathy
2. Orofacial inflammation (strawberry tongue)
3.Desquamation of the palms/soles
4. Bilateral conjuncitivitis
5. Widespread non-vesicular rash
145
How do you treat Kawasaki disease?
What important complication must you monitor for and how?
High dose aspirin & IV Ig
Echos to check for coronary aneurysm
146
What is Reyes syndrome?
Acute, life-threatening, non-inflammatory encephalopathy and fatty degeneration of the liver.
Complication of aspirin use in children.
147
What is aplastic anaemia? What are the diagnostic criteria?
Pancytopenia with hypocellular bone marrow in the absence of abnormal infiltrate or marrow fibrosis.
Two of:
Hb<100
Plt<50
Neutrophils <1.5
148
What is hereditary spherocytosis?
An autosomal dominant inherited condition where red blood cells are sphere shaped, making them fragile and easily destroyed when passing through the spleen.
Most common in northern Europeans.
149
When and how does hereditary spherocytosis present?
May present at birth with jaundice within 24 hours.
Or, may present when triggered by a stressor e.g. infection.
Slapped cheek infection (Parvovirus B19) can cause aplastic anaemia in children with hereditary spherocytosis.
Signs:
- Jaundice
- Anaemia
- Gallstones
- Splenomegaly
150
What is immune thrombocytopenia (ITP)?
Autoimmune antibody mediated destruction of platelets and inhibition of platelet production.
151
How is ITP managed? What safety netting is necessary?
Only given medical treatment if severe, e.g. Plt <10, as most spontaneously resolve withint 6-8 weeks.
Tx:
- Prednisolone
- IV Ig (1st line)
- High dose dexamethasone (2nd line)
Safety netting:
Advise about signs of internal bleeding e.g. persistent headaches, melaena.
May need to also monitor blood pressure and suppress menstrual periods.
152
What is thrombotic thrombocytopenic purpura?
A rare condition affecting small vessels.
Tiny blood clots develop throughout small vessels, using up platelets and causing thrombocytopenia. The tiny clots also break up red blood cells, leading to haemolytic anaemia.
Caused by a deficiency in the ADAMTS13 protein which usually inactivates von Willebrand factor to reduce platelet adhesion and clot formation.
Deficiency of ADAMST13 can be inheritied or autoimmune.
153
Classic pentad of thrombotic thrombocytopenic purpura:
1. Microangiographic haemolytic anaemia
2. Purpura
3. Neurological abnormalities
4. Anaemia
5. Fever
154
Px of ITP: (symptoms and investigation results)
Symptoms:
- Petechiae, purpura
- Bleeding e.g. epistaxis
- Catastrophic bleeding e.g. intracrain is NOT a common presentation
Ix:
- FBC shows isolated thrombocytopenia
155
What is heparin inducted thrombocytopenia?
HIT involves the development of antibodies against platelets in response to heparin.
These heparin induced antibodies then target a protein on platelets called platelet factor 4 (PF4).
The anti-PF4/heparin antibodies bind to platelets causing a HYPERCOAGULABLE state. This leads to thrombosis as well as the breakdown of platelets. This creates a strange combination of THROMBOCYTOPENIA and THROMBOSIS.
E.g. following a hip replacement and 10 days of heparin, an elderly woman develops symptoms of a PE - her bloods show thrombocytopenia, Dx = HIT
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What is acute lymphoblastic leukaemia?
A malignant change in one of the lymphocyte precursor cells causes acute proliferation of B lymphocytes.
B lymphocytes replace all other cell types in the bone marrow, leading to pancytopenia.
It is the most common cancer in children, peaking at around 2-4 years.
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Give 6 investigations for ALL and what they might show:
1. FBC - anaemia, thrombocytopenia, neutropenia
2. Blood film - BLAST CELLS
3. Bone marrow aspiration/biopsy - ≥ 20% blast cells in marrow and/or peripheral blood (WHO diagnostic criteria)
4. CXR - medialstinal widening/mass
5. Uric acid - raised
6. Cytogenetics of bone marrow sample - to show immunophenotype e.g. t(9;22) Philadelphia chromosome
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What is the Philadelphia chromosome?
Translocation of chromosomes 9 and 22.
Associated with acute lymphoblastic leukaemia
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How does ALL present?
Bruising/petechiae
Fever
Fatigue
Frequent infections
Bone/joint pain
Anaemia
Organomegaly
Medialstinal mass
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How do you treat ALL?
2-3 years of high intensity chemotherapy via a Hickman line
Haemopoetic stem cell transplant may be used for a relapse or for high risk patients in their first remission
161
Down's syndrome is associated with an increased risk of which childhood cancer?
ALL
162
What is Faconi's anaemia?
An autosomal recessive condition that results in bone marrow failure.
163
What skin condition is associated with Faconi's anaemia?
Cafe au lait spots
164
Haemophilia A is which coagulation factor deficieny?
factor VIII
165
Haemophilia B causes which coagulation factor deficiency?
factor IX
166
How is haemophilia inherited?
x-linked recessive
167
What is von willebrand disease?
An autosomal dominant inherited disorder of abnormal bleeding.
Caused by deficiency/absence/malfunction of the glycoprotein von willebrand factor.
168
How do you manage von willebrand disease?
Day to day no treatment is required
Will need support prior or in response to major blood loss
Desmopressin can stimulate VWF release, VWF can be infused and factor VIII can be infused
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What is rhesus incompatability?
Rhesus group refers to rhesus antigens on the surface of red blood cells.
Women who are rhesus-D positive need no additional treatment.
Women who are rhesus-D negative may have a rhesus-positive child. These women need support in case mixing of the baby and mother's blood causes haemolysis.
170
What is Ewing's sarcoma?
A primary malignant tumour of the spine in children
Presents at 10-20 years
Common site is sacrococcygeal region
171
What is the causative organism of bronchiolitis?
respiratory syncytial virus
172
How do you manage bronchiolitis?
Supportive tx at home, humidified o2 if necessary
173
How do you protect at risk babies from bronchiolitis?
Palivizumab immunoprophylaxis
174
What is for tested in the heel-prick test at birth? (5)
Congential hypothyroidism
Cystic fibrosis
Sickle cell disease
Severe combined immunodeficiency (SCID)
Metabolic disorders including: phenylketonuria, maple syrup urine disorder
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Complications of cystic fibrosis: (7)
1. Male infertility
2. Diabetes
3. Haemorrhagic disease of the newborn
4. Nasal polyps
5. Rectal prolapse
6. Bowel obstruction/meconium ileus
7. Prolonged jaundice
176
What mutation causes cystic fibrosis?
CFTR mutation of chromosome 7, most common mutation is DF508
177
What is the most common causative organism of croup?
Parainfluenza virus (75%)
178
How do you treat croup?
Oral dexamethasone single dose 150 micrograms/kg
Nebulised adrenaline in an emergency
179
What is the causative organism of whooping cough?
Bordatella pertussis
180
How does whooping cough present?
Inspiratory whooping noise
Violent coughing that may cause vomiting
Gasping, then may stop and turn blue
Worse at night
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Two complications of whooping cough:
bronchiecstasis
pneumothorax
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What is chronic lung disease of prematurity? (aka bronchopulmonary dysplasia)
Baby born pre-mature (~23-26 weeks) needing increasing oxygen support over 4 to 10 weeks
Reduced lung volumes, fibrosis, scarring and reduced alveolar surface area causes a diffusion defect
Diagnosis is made after 36 weeks using CXR
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Step-wise management of asthma in children:
SABA → very low dose ICS → add LTRA → add LABA (only if over 5 years old) → increase ICS
184
In a child with possible bronchiolitis, when should you suspect pneumonia instead?
temp > 39, persistent focal crackles
185
Presentation of acute epiglottitis:
Drooling
Dysphagia
Dysponea
Dysphonea
High fever
Tripod stance
Soft stridor
186
Px of bacterial tracheitis:
Rare!
Rapid onsent
Fever >39
Cough
Hoarse voice
187
3 features of viral induced wheeze that differentiate it from asthma:
Presenting before 3 years of age
No atopy
Only occurs during viral illness
188
What is heard on auscultation in a child with viral induced wheeze?
Expiratory wheeze throughout chest
189
Common causative organisms of viral induced wheeze: (2)
RSV or rhinovirus
190
What is 6th disease?
Roseola infantum - infection caused by human herpes virus 6
High fever for 3-5 days, followed by 2 days of a maculopapular rash starting on the chest
191
What is the causative organism of measles?
paramyxovirus
192
How does measles present?
Prodrome:
- irritable
- conjunctivitis
- fever
- coryzal
Rash:
Starts behind the ears
Spreads all over
Koplik spots in the mouth
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What is a common complication of measles?
otitis media
