Paeds emergencies, genetics and neonatology Flashcards
1
Q
Recall 2 causes of neonatal collapse
A
Sepsis, CHD
2
Q
Recall 4 possible causes of jaundice in the neonate
A
Breast milk, sepsis, feeding difficulty, physiological
3
Q
Recall 4 common causes of rash in the neonate
A
Nappy rash, milia, erythema toxicum, mongolian blue spot
4
Q
Recall 2 causes of seizures in the neonate?
A
Hypoglycaemia, HIE
5
Q
Recall 4 milestones that should be reached by one year
A
Standing unsupported, pincer grip, “mama, dada, no”, fear strangers
6
Q
Recall 5 milestones that should be reached by 18 months
A
Stack 2 blocks, walk unaided, separation anxiety, know 6-12 words, scribbles
7
Q
Recall 2 milestones that should be reached by 2 years
A
Link 2 words in sentences, understand 2 step commands
8
Q
Recall the milestones that should be reached by 3 years
A
Gross motor: Hop on one foot, walk upstairs one foot per step, downstairs two feet per step
Fine motor: Draws a circle, bricks in a bridge, makes single cuts in paper with scissors, string of beads
Speech/ language: understands negatives and adjectives
Social: begins to share toys, plays alone without parents, eats with fork and spoon, bowel control
9
Q
What are the 4 domains of development?
A
Gross motor skills (develop head to toe), fine motor skills, language and speech, social skills
10
Q
In what period of life should primitive reflexes be present?
A
From birth, to no later than 6 months
11
Q
Recall the 5 primitive reflexes
A
Moro (sudden head drop --> arms outstretched) Stepping Rooting Palmar and plantar grasp Atonic neck (fencing posture)
12
Q
Why do gross motor skills develop from head to toe?
A
That is how myelination develops
13
Q
At what age should a child run and jump?
A
2.5 years
14
Q
What is the limit age for walking independently?
A
18 months
15
Q
At what age should children babble polysyllabically?
A
5 months
16
Q
At what age should children say 6 words with meaning?
A
18 months
17
Q
At what age should children be able to smile?
A
6 weeks
18
Q
How can abnormal progression be classified?
A
Slow but steady, plateau, regression, acute insult
19
Q
What is tested in the full physical exam (first 72 hours)?
A
Heart, hips, eyes, testes
20
Q
When is the Guthrie heel prick test done?
A
At 7 days old
21
Q
When is the new baby review done and what does it involve?
A
2 weeks: safe sleeping, vaccination, feeding, caring, development
22
Q
How is hearing tested in the neonate, and when is this done?
A
Automated Otoacoustic Emission/ AOAE - at 4 weeks
23
Q
When is the second full physical exam, and what does it involve?
A
At 6 weeks (done by GP) - DDH testing, testicles, heart, weight, length, vaccination discussion
24
Q
Recall the timings of the immunisations done within the 1st year of life and what is included in each one
A
1st immunisations:
8 weeks - Men B, rotavirus, 6-in 1 DTaP/IPV/Hib/HepB
2nd immunisations: 12 weeks - also ‘6-in-1’ and rotavirus + pneumococcal
3rd immunisations: 16 weeks - ALSO 6-in-1 and a repeat MenB
4th immunisations: 1 year - 1st MMR + boosters
25
When is HBV given, and to which infants?
At birth, to those whose mother is infected
26
When is BCG given to eligible infants?
At birth
27
What is included in a health review?
Development, behaviour, healthy eating
28
When are the health reviews conducted?
1 and 2 years
29
When are the 5th immunisations and what do they include?
3 years 4 months
| DTP, polio, 2nd MMR
30
What is checked at 4 years?
Vision
31
What is checked on school entry?
Height, weight, hearing
32
When are the 6th and 7th immunisations and what do they include?
6th immunisations are at 12-14 years: 2 x HPV (6,11,16,18)
7th immunisations = at 14 years, DTP, MenACWY
33
Which paediatric milestones are checked at the 1 year health review?
Gross motor - they should be walking unsteadily and standing independently
Fine motor - pincer grip (check for no hand dominance)
Hearing/ speech/ language - 2/3 words other than dada/mama with intent
Social/emotional/ behavioural - drink from cup with 2 hands
34
What is the mnemonic for remembering the components of the 6-in-1 vaccine?
```
Parents Will Immunise Toddlers Because Death -
Polio
Whooping cough
Influenzae B
Tetanus,
B (hepatitis)
Diptheria
```
35
What colours of skin would be a red flag in the traffic light system?
Pale/ mottled/ ashen/ blue
36
At what age is a child with fever always considered a red flag in the traffic light system?
<3 months
37
Recall how CPR differs in adults compared to children and neonates
Adults: 30:2
Children: 15:2
Neonates: 3:1
38
In the ABCDE formulation, what comes under 'disability'?
AVPUG - Alert, voice, pain, unresponsive, glucose
39
What is the most common surgical emergency in newborn babies?
Necrotising enterocolitis
40
Describe the decorticate and decerebrate positions
Decorticate = bending wrists up to neck, decerebrate = wrists pointing out, arms straight down by sides
41
What is SIRS?
```
Generalised inflammatory response, defined by >/= 2 criteria:
Must inculde one of:
- Abnormal temp (<36, >38.5)
- Abnormal WCC
The other criteria are:
- Abnormal HR
- Raised RR
```
42
How is a high risk sepsis diagnosed?
CVS: hypotension, prolonged cap refil, O2 needed to maintain SpO2
Blood lactate >2
Pale, mottled or non-blanching purpuric rash
RR abnormal or grunting
43
What is the sepsis 6 pathway in adults?
```
Oxygen
Blood and blood cultures
IV Abx
IV fluids
Check serial lactates
Check urine output
```
44
What is the difference between Sepsis and SIRS?
Sepsis = SIRS with infection
45
How is severe sepsis defined?
Sepsis with CV dysfunction, ARDS or dysfunction 2 or more organs
46
How is septic shock defined?
Sepsis with CV dysfunction persisting after at least 40mL/kg of fluid resuscitation in one hour
47
What are the common organisms implicated in early onset neonatal sepsis?
GBS, E coli, L monocytogenes
48
Which organism is most likely to cause late onset neonatal sepsis?
Coagulase-negative staphylococcus (CoNS) eg. Staph. Epidermis
49
Which children with sepsis should have an LP?
<1 month old, 1-3 months who appear unwell/ have an WCC <5 or >15
50
What is the sepsis 6 pathway in children?
Give:
1. High-flow oxygen
2. Antibiotics
- Early-onset neonatal = cefotaxime, amikacin + ampicillin
- Late-onset neonatal = meropenem + amikacin + ampicillin
- >3m old = ceftriaxone )
3. Early senior input
4. Early inotropic support
5. Fluid resus if indicated (20mls/kg 0.9% NaCl over 5-10 mins)
```
Take:
1. Bloods:
FBC (abnormal WCC?)
U&E + CRP (?urosepsis)
Glucose
Clotting (?DIC)
ABG and lactate
```
51
Which Abx are most useful in meningococcal sepsis?
IM benzylpenicillin (in the community) or IV cefotaxime (in hospital)
52
Which Abx are most useful in early onset neonatal sepsis?
Most likely to be GBS, L. monocytogenes or E coli so: IV cefotaxime + amikacin + ampicillin
53
Which Abx are most useful in late onset neonatal sepsis?
Most likely to be CoNS (s. epidermis) so: IV meropenem + amikacin + ampicillin
54
What is opisthotonos?
Hyperextension of neck and back
55
What are the two 'signs' indicative of meningitis?
Kernig's sign: pain on leg straightening
| Brudzinski's sign: supine neck flexion --> knee/ hip flexion
56
What type of rash is often present in meningitis and what type of meningitis is this most common in?
Non-blanching - usually meningococcal
57
How does the HR change throught the course of illness in meningitis?
Starts high to compensate for brain ischaemia, then drops to as baroreceptors sense high BP
58
What symptoms make up Cushing's triad of high ICP?
High BP + low HR + irregular RR
59
In what order should meningitis investigations be done?
First: LP if not contraindicated to identify source of infection
Next:
1. VBG: including glucose and lactate
2. Blood cultures (must be done BEFORE empirical abx started)
3. FBC, CRP, UandE and creatinine
(After this - give broad spec abx at highest possible dose without delay)
60
As well as sepsis 6 pathway + Abx, what should the management be in meningitis in children?
- Steroids (dexamethosone) if CSF shows purulent CSF, WBC >10000, WCC + protein >1g/L, bacterial gram stain and ONLY if it's not meningococcal
- Mannitol (to reduce ICP)
- IV saline NaCl
61
What potential longterm complications of meningitis might need to be discussed with a child's family?
Hearing loss, renal failure, neurodevelopmental conditions
| Purpura fulminans - the haemorrhagic skin necrosis from DIC
62
What are the most common causes of viral meningitis?
Coxsackie Group B, echovirus
63
What is encephalitis?
Inflammation of the brain parenchyma
64
What are the 3 possible aetiologies of encephalitis?
1. Direct invasion of cerebellum (eg HSV)
2. Post-infectious encephalopathy = delayed brain swelling following neuroimmunological response to antigen
3. Slow virus infection (eg HIV or SSPE following measles)
65
What are the signs and symptoms of encephalitis?
Same as meningitis - might not be able to tell the difference clinically! If there is a behavioural change is more likely to be encephalitis
66
What are some contraindications for LP?
```
Cardiorespiratory instability
Signs of raised ICP
Thrombocytopaenia
Focal neurology
Coagulopathy
Meningococcal meningitis
```
67
How should encephalitis be managed?
IV acyclovir (high dose) for 3 weeks - HSV is a rare cause but complications are major so treat empirically
68
What should be added to the treatment regime if it's a CMV encephalitis?
Ganciclovir and Foscarnet
69
What is anaphylaxis?
Type 1 hypersensitivity reaction - IgG cross-linking with IgE membrane-bound Ab of mast cell/ basophil
70
What is the most common cause of anaphylaxis in children?
Food allergy (85%)
71
What is the dose of IM adrenaline in paediatric anaphylaxis?
1:1,000
72
When can a repeat dose of IM adrenaline be given in paediatric anaphylaxis treatment?
If response after 5 mins is insufficient
73
After giving adrenaline, how should anaphylaxis be managed?
```
Establish airway + high flow O2
IV fluids (crystalloids)
IV chlorpheniramine
IV hydrocortisone
Salbutamol if wheeze
```
74
What is the first thing that must be done on observation of a dry baby at delivery?
Note time!
75
What must be done within the first 30 seconds of a neonatal resuscitation?
Assess tone, RR, HR (femoral and brachial) and colour
76
What must be done within the first 60 seconds of a neonatal resuscitation?
If not breathing, open airway and do 5 INFLATION BREATHS
| Reassess and repeat until chest movement seen
77
Once chest movement is seen in a neonatal resuscitation, what should be done next?
Ventilate for 30s
| Then chest compression and ventillation with a rate of 3:1
78
If HR remains undetectable/ slow in a neonatal resuscitation, what should be considered?
Consider venous access and drugs
79
When should the Apgar score be used?
At 1 min and 5 mins after delivery, and every 5 mins after if condition remains poor
80
What apgar score is considered normal?
>7
81
What are the components of the apgar score?
```
Appearance (colour)
Pulse
Grimace
Activity (muscle tone)
Respiratory
```
82
What should be considered if, after tracheal intubation, HR does not increase and good chest movement is not achieved in a neonatal resuscitation?
```
DOPE:
Displaced tube
Obstructed tube
Patient (tracheal obstruction? Lung disorder? Shock? Choanal atresia?)
Equipment failure
```
83
When should 5 rescue breaths be given in paediatric BLS?
DR AB RESCUE BREATHS CDE
84
At what BPM should chest compressions be done in paediatric BLS?
100-120
85
Recall the signs and symptoms of Patau's
```
Use mnemonic 'microcephaly':
M - mental retardation
13 (trisomy)
C - cleft lip and palate
R - renal
O - omphalocele
C - cardiac
E - eyes small
P - polydactyly
H - holoprosencephaly
L - lbw
```
86
Recall some key features of Edward's syndrome
```
Use mnemonic CrIEs of SORROW
C - cardiac
I - intellectual disability
E - ears low-sets, of,
S - small mouth and chin
O - overlapping fingers
R - renal
R - Rocker-bottom' feet
O - omphalocele
W - lbw
```
87
Recall some key features of Down's
Single palmar crease, 'sandal gap' abnormality, upslanting palpabral fissures
88
What is mutated in Noonan's syndrome?
RAS/ MAPK
89
Recall the features of Noonan's
Webbed neck, trident hairline, pectus excavatum, short stature, pulmonary stenosis
90
What is the genetic difference between PWS and Angelman's?
PWS = lack paternal 15q, Angelman = lack maternal 15q
91
What is the genetic mutation in Turner's?
Female missing/ partly missing an X chromosome
92
Recall some features of Turners
Neonatally: pyloric stenosis + cardiac problems
Infertility due to ovarian dysgenesis
Koilonychia
Wide carrying angle
Webbed neck
Bicuspid aortic valve --> aortic coarctation --> ESM over aortic valve
93
Recall 4 features of Kleinfelter's
Infertility, hypogonadism, gynaecomastia + tall stature
94
What mutation causes fragile X?
CGG trinucleotide expansion - FMR1 gene
95
Recall the symptoms of Fragile X
```
MALE MOPS
M - macrocephaly
A - autism
L - laxity of joints
E - ears are large and low-set
M - macro-
O - orchidism
P - prolapsed MV complication
S - scoliosis
```
96
What is the triad of abnormalities seen when there is maternal rubella during pregnancy
Cataracts, deafness, cardiac abnormalities
97
What is the prognosis for Patau's syndrome?
80% die in first month
98
What is the prognosis for Noonan's?
Varies massively as penetrance varies massively too
99
What is the phenotype of Angelman's?
Cognitive impairment, ataxia, epilepsy, abnormal facial appearance
100
What is the most common heart defect in Down's syndrome?
AVSD
101
Recall some of the possible later complications of Down's syndrome
Secretory otitis media (75%)
OSA (50-75%)
Learning difficulty
VI Joint laxity
102
Recall some conditions that those with Down's are at an increased risk of developing
AML, hypothhyroidism, coeliac, epilepsy, early-onset alzheimer's
103
What should be checked for annually in those with Down's syndrome
Hearing test, thyroid, eye test, Hb (for IDA),
104
What classifies as a stillbirth (rather than a miscarriage)?
Foetus born with no signs of life >24 weeks of pregnancy
105
What is the difference between the perinatal and neonatal mortality rate?
Perinatal = stillbirths + deaths within 1st week, whereas neonatal = deaths of live-born infants in first 4 weeks after birth
106
For how long is a baby considered a neonate?
Up to 28 days old
107
What is considered 'term'?
27-41 weeks old
108
Recall the cutoff rates for low, very low and extremely low birthweight
Low = <2500g
Very low = <1500
Extremely low = <1000
109
How is small/large for gestational age calculated?
Small = in <10th centile, large = >90th centile
110
What does a routine neonate inspection exam include?
Head to toe systematic:
1. Birthweight and gestational age
2. General observation - posture? Pallor? Rash?
3. Head (many things to look for)
4. Breathing and HR and peripheral saturations
5. Femoral pulses and genitalia
6. Musle tone, DDH, whole of back and spine, DDH/ Club feet?
7. Reflexes
111
What is being looked for upon examination of the neonatal head ?
Head circumference (macrocephaly?)
Eyes (red reflex?)
Cephalohematoma (benign, self-resolving)
Caput Succedaneum = Cross Suture lines (self-resolving)
Tense fontanelle (raised ICP?)
Depressed fontanelle (dehydrated?)
112
What are the primitive reflexes?
```
Moro
Stepping
Asymmetric tonic
Palmar
Babinski's
```
113
What are the components of the test for DDH?
Barlow's (abduct and push joint posteriorly)
| Ortolani's (lift and externally rotate)
114
What is the Guthrie test?
Biochemical screening
115
When should the Guthrie test be done?
At 7 days old
116
What is included in the Guthrie test?
```
Congenital hypothyroidism
SCD
CF
6 metabolic diseases:
- PKU
- MCADD
- Maple Syrup Urine disease
- IVA (isovaleric acidaemia)
- Glutaric aciduria type 1
- HCU (homocysteinuria )
```
117
Which type of infection can cause sensorineural hearing loss in neonates?
CMV
118
What is the 1st and 2nd line options for testing hearing at birth?
1st line: Evoked otoacoustic emission- If earphone doesn't produce an echo...
2nd line: Automated auditory brainstem response- Computer analyses the EEG wave forms evoked in response to a series of clicks
119
What features of FAS would be seen in the neonatal examination?
Microcephaly, absent philtrum, cardiac abnormalities, reduced IQ, IUGR, small upper lip
120
What is the triad of features seen in Rubella syndrome?
Cataracts, deafness, cardiac abnormalities
121
What abnormalities would be seen in a baby who is born to a mother with syphillis?
Saddle nose, rhinitis, deafness, hepatosplenomegaly and jaundice
122
What is the NIPE and when should it be done?
Neonatal and infant Physical Examination
<72 hours AND 6-8 weeks
123
What are the 4 major areas of the NIPE?
Heart, Eyes, Testes, Hips
124
What is positional talipes, and what causes it?
Feet remaining in in-utero position, due to intrauterine compression
125
How should positional talipes be managed?
Physiotherapy
126
What is club foot known as medically?
Talipes equinovarus
127
How should club feet be managed?
```
Ponsetti method (plaster casting and bracing)
Surgery if severe
```
128
What is the cause of hypoxic ischaemic encephalopathy ?
Perinatal asphyxia - may be due to placental abruption, interruption of umbilical blood flow (eg shoulder dystocia --> cord compression), maternal hypotension, IUGR or failure to breathe at birth
129
If hypoxic ischaemic encephalopathy continues post-natally, what will it cause?
Cerebral palsy
130
What are the key features of mild hypoxic ischaemic encephalopathy ?
Staring eyes, hyperventilation, hypertonia
131
What are the key feature of moderate hypoxic ischaemic encephalopathy ?
Cannot feed, possible seizures, hypotonic
132
What are the key features of severe hypoxic ischaemic encephalopathy ?
No normal movement in response to pain, tone fluctuates between hypertonic and hypotonic, seizures refractory to treatment, MODS
133
How should hypoxic ischaemic encephalopathy be managed?
Supportively
Resp support, anticonvulsants, fluid restriction (transient renal impairment), inotropes (to treat hypotension), therapeutic hypothermia (requires NICU)
134
At what age does brain injury classify as 'acquired brain injury' and not cerebral palsy?
2 years old
135
How can cerebral palsy be aquired post-natally?
Perventricular leukomalacia secondary to ischaemia (eg meningitis, very prem birth)
136
Recall some features of abnormal posture/tone due to cerebral palsy
```
Stiff legs which scissor
Hypotonia or spasticity
Inability to lift head
Rounded back when sitting
Fisted hands
```
137
Other than postural/ limb tone abnormalities, what abnormalities might be seen in cerebral palsy?
Feeding difficulties, abnormal gait, hand preference before 1 year old
138
How is gross motor function classified?
GMFCS (gross motor funtion classification system!)
139
What are the subtypes of cerebral palsywith their relative prevalences?
Spastic CP (90%) Dyskinetic CP (6%)Ataxic CP (4%)
140
What is the cause of spastic cerebral palsy?
Damage to UMN pathway (pyramidal tracts)
141
What is one of the pathognomonic features of spastic cerebral palsys opposed to other types of cerebral palsy?
Clasp knife rigidity - increased tone suddenly gives way under pressure
142
What are the 3 main types of spastic cerebral palsy?
1) unilateral/ hemiplegia:
- unilateral arm and leg, face spared
- tiptoe walk on affected side
- likely to have an unremarkable management and birth
2) BL/ quadriplegia: all 4 limbs, often severe
- poor head control --> low central tone + seizures - often have LD
3) Diplegia (legs affected to a greater degree)
- Abnormal walk
- Associated with pre-term birth damage
143
What are the possible causes of dyskinetic cerebral palsy?
HIE or kernicterus
144
What is kernicterus?
Brain damage due to hyperbilirubinaemia
145
Describe the phenotype of dyskinetic cerebral palsy
Variable muscle tone predominated by primitive motor reflexes:
- Chorea
- Athetosis (fanning fingers)
- Dystonia (twisted appearance)
146
What is the cause of ataxic cerebral palsy?
Damage to cerebellum - most geneticly determined
147
How should cerebral palsy be investigated?
History, clinical examination and developmental progress - if cause is not clear, MRI
148
What one clinical sign is always an indication for referral for cerebral palsy investigation?
Persistent toe walking
149
What are some red flags for other neurological conditions when considering a diagnosis of cerebral palsy?
Absence of other risk factors
FHx of progressive neurological disorder
Loss of already attained cognitive/ developmental abilities
MRI suggestive of progressive neurological disorder
150
How should cerebral palsy be managed?
Very MDT orientated
- Info about prognosis: eg children who can sit by age 2 are likely to be able to walk unaided by 6
- SCOPE disability charity
- Medication: stiffness = diazepam, sleeping = melatonin, constipation = movicol, drooling = anticholinergic
151
Recall some important things to say in PACES counselling of a cerebral palsy child's parents
Explain that brain damage has occurred in early development
Explain that damage doesn't get worse, but will change its manifestation as the child gets older
Refer to MDT - especially paediatrician
Longterm management = physiotherapy, SALT and SEN
Medication options
152
Which babies are at highest risk of developing NEC?
Premature/ LBW
153
What is the aetiology of NEC?
Mostly unknown but thought to be a combination of poor blood flow and infection
154
What are the early signs of NEC?
Biliary vomiting (green), feeding intolerance
155
What will be seen on AXR in NEC?
Gas cysts
156
What are the appropriate investigations to do in NEC?
AXR
| Blood cultures
157
What are the criteria used to decide management of NEC?
Bell's staging
158
Recall the elements of NEC management
1. Bowel rest - stop oral feed and switch to parenteral nutrition
2. Broad-spectrum Abx (eg Tazocin) - number of days depends on stage
3. Laparotomy (if perforation is seen on AXR)
159
Give some reasons for physiological jaundice at birth
1. Hb release from RBCs as there is a high [Hb] at birth
2. RBC lifespan being 70 days rather than 120 days
3. Breast milk jaundice (but not until after >24 hours)
4. BR metabolism being less efficient in first few days of life
160
What is the main danger of uBR buildup in neonates?
Kernicterus (a form of encephalopathy): it's caused by a deposit of uBR in the basal ganglia
May develop into dyskinetic CP, LD and sensorineural deafness
161
How can uBR buildup in neonates be treated before any damage is done?
Phototherapy +/- IvIG and exchange transfusion
162
What would be the difference in clinical presentation between uBR buildup and cBR buildup?
uBR buildup --> kernicterus
| cBR buildup --> dark urine and pale stools
163
In what situations should phototherapy be stopped?
If bronzing occurs: it means the child has a buildup of cBR, rather than uBR, which cannot be treated using phototherapy
164
How should investigations begin in neonatal jaundice?
1. Check transcutaneous or serum BR levels
2. Do a split BR to check uBR/cBR
3. May want to do a blood film analysis
165
Recall some pathological causes of neonatal jaundice in babies <24 hours old
GRAPHIC DOG
- Gilbert's
- Rhesus disease
- ABO incompatability (--> haemolysis)
- PK deficiency
- Hereditary spherocytosis
- Infection
- Crigler-Najjar
- Dubin-Johnson
- Other...
- G6PD deficiency
166
Recall 3 physiological causes of jaundice in a 2 day to 2 week old baby
Physiological jaundice
- due to immature liver, peaks at 3-5 days
Breastfeeding jaundice
- less milk intake --> more enterohepatic recycling
Breastmilk jaundice
- Decreased UGT1A1 activity (occurs following physiological jaundice)
167
What haemolytic and metabolic causes for jaundice might present in a 2 day to 2 week old baby?
Metabolic = Gilbert's, Crigler-Najjar, Dubin-Johnson
| Haemolytic: G6PDD, PK deficiency, hereditary spherocytosis (less likely to be ABO at this point)
168
What may be the cause of jaundice in a 2 day to 2 week old baby that didn't present in first 24 hours?
Congenital hypothyroidism
Dehydration
Bruising (cephalohematoma)
Polycythaemia
169
How should jaundice be investigated in a baby over 2 weeks old?
Direct and indirect serum BR
170
Which of the conditions that cause jaundice in a 2 day to 2 week old baby might continue to the >2 weeks stage?
All - but physiological and breastmilk is most common
171
Recall 2 further causes of a buildup of uBR in a baby over 2 weeks old
```
Pyloric stenosis (presents at 2-4 weeks)
Congenital hypothyroidism*
```
172
Systematically recall the causes of a raised cBR in the neonate (>2w old)
Endocrine: Congenital hypothyroidism
GI: Billiary atresia, ascending cholangitis (can be caused by lipids on TPN)
Metabolic: Gal-1-PUT, A1AT deficiency, Tyrosinaemia type 1, peroxisomal disease
Other: CF, idiopathic neonatal hepatitis
173
For how long does jaundice have to persist in order to be defined as 'prolonged'?
>14 days if term
| >21 days if pre-term
174
At what age should investigations include a split BR rather than just a total BR?
2 weeks
175
What is a worrying BR in a baby >37w gestation (red flag for kernicterus)?
>340
176
Recall the clinical features of kernicterus
Poor feeding, extreme letahrgy, hypotonia, high-pitched cry
177
Recall some investigations you might do to find the underlying cause of jaundice in a baby
TC/ serum BR within 6 hours of presentation
Haematocrit
DAT/ Coombs (haemolysis?)
G6PD levels (depending on ethnic origin)
TSH (hypothyroid?)
LFTs (ascending cholangitis? Biliary atresia?)
Blood group of M and B (ABO incompatible? Rhesus?)
Blood film + osmotic fragility (hereditary spherocytosis?)
MC&S of urine/ CSF (if ? infection cause)
178
How is treatment of neonatal jaundice guided?
There are thresholds at which phototherapy/ exchange transfusion are indicated
179
What are the options for treatment of neonatal jaundice?
Phototherapy +/- IV Ig
| Exchange transfusion + phototherapy +/- IV Ig
180
How does phototherapy work?
Converts uBR to a water-soluble pigment that is excreted in urine
181
What important checks should be done during/ after phototherapy?
During: temperature, BR levels every 4-6 hours (with regular feed breaks)
After (12-18 hours post): check for a rebound hyperbilirubinaemia
182
When should intensive phototherapy be given?
1. Rapidly rising BR
2. Serum BR within 50mmol of exchange tranfusion threshold (after 72 hours life)
3. BR level doesn't respond after 6 hours of therapy
183
What are the 2 indications for exchange transfusion to treat neonatal jaundice?
1. BR threshold reached
| 2. Signs of kernicterus
184
What is an important thing to remember when giving an exchange transfusion?
Give folic acid afterwards to prevent anaemia
185
What is one thing to be cautious of if delivering high oxygen levels to a neonate?
Retinopathy of prematurity
186
Recall some signs of respiratory distress in babies
```
High RR (>60)
Laboured breathing
Chest wall recessions
Nasal flaring
Expiratory grunting
Cyanosis (if severe)
```
187
What is the most common cause of respiratory distress in term infants?
Transient tachypnoea of the neonate
188
Recall 4 conditions that PPHTN can be secondary to
Birth Asphyxia
Meconium aspiration
Septicaemia
RDS
189
What is the pathophysiology of PPHTN?
High pulmonary vascular resistance --> right to left shunting within lungs at atrial and ductal levels
190
Recall some signs and symptoms of PPHTN
Cyanosis after birth
| Absent heart murmurs and signs of HF
191
What investigations are appropriate in PPHTN and what would they show if pos?
CXR: normal heart size but some pulmonary oligaemia
Echo: to ensure no cardiac defect
192
How should PPHTN be treated?
Oxygen, NO (inhaled), sildenafil (!!) Ventilation: mechanical, high frequenct (oscillatory) OR, if severe, extracorporeal membrane oxygenation (ECMO) +/- heart/lung bypass
193
What is the cause of TTotN?
Delay in resorption of lung fluid
194
How is a diagnosis of TTofN made?
1. CXR - shows fluid in horizontal fissure
| 2. Other causes excluded
195
What are the possible causes of paediatric chronic lung disease?
Infection, barotrauma, iatrogenic injury
196
What is the pathophysiology of paediatric chronic lung disease?
Lung damage due to pressure and volume trauma from artificial ventilation, O2 toxicity and infection
197
What are appropriate investigations in paediatric chronic lung disease and what would pos results show?
CXR: widespread opacification
CBG/VBG: acidosis, hypercapnia, hypoxia
198
How can paediatric chronic lung disease be managed?
Respiratory support (!): prolonged artificial ventilation --> wean to CPAP --> wean to additional O2
Corticosteroid therapy - dexamethosone is useful for short-term clinical improvement (but concerns limit use)
199
What is the cause of RDS in neonates?
Deficiency of surfactant (common if born <28 weeks gestation)
200
Recall some risk factors for RDS
DM mother
| 2nd born of premature twin
201
How is RDS diagnosed?
It's a clinical diagnosis
Can be supported by:
- Pulse oximetry
- CXR showing pneumothorax (from ventilation), ground-glass appearance
202
How can RDS be managed antenatally and postnatally?
Antenatal: steroid therapy + tocolytic therapy so steroids have at least 24 hours to work
Postnatal: oxygen and ventilation (caution: CLD), CPAP
203
What is the cause of pneumothorax in children, and what is the best way to prevent them?
Ventilation which causes pulmonary interstitial emphysema
Can be prevented that infants are ventilated on the lowest possible pressures with adequate chest movement and blood gaes
204
How should infant pneumothorax be treated?
Immediate decompression
Oxygen therapy
Chest drain if tenion pneumothorax
205
When does meconium aspiration occur?
Exclusively in immediate neonatal period
206
What is the biggest RF for meconium aspiration?
Increased GA
207
What are the signs and symptoms of meconium aspiration?
Respiratory distress, chest retraction, hypoxia
208
How is meconium aspiration diagnosed?
CXR: shows overinflated lungs, patches of collapse and consolidation
May show pneumothorax or pneumomediastinum (from air leak)
209
How is meconium aspiration managed?
Observation: there will be meconium-stained amniotic fluid and no history of GBS
IV ampicillin and IV gentamicin (to treat features of infection)
CPAP (for severe cases)
210
What is meconium ileus?
Thick, sticky meconium that has a prolonged passing time
211
What is the normal period of delivery of meconium?
Within 24 hours
212
Recall 2 associations of meconium ileus
CF
| Biliary atresia
213
How should meconium ileus be managed?
1st line: Gastrograffin enema
| 2nd line: surgery
214
Recall some differentials for billious vomiting in the neonate
NEC
Duodenal/ jejunal/ ileal atresia
Meconium ileus
Malrotation volvulus
215
What is the most important investigation to do in investigating billious vomiting, and what results might it show?
AXR: "Double bubble" sign = duodenal atresia
Air-fluid levels - jejunal/ ileal atresia
Dilated bowel loops --> NEC
216
How are duodenal/ jejunal/ ileal atresia managed?
Duodenal atresia --> duodenoduodenostomy
| Jejunal/ ileal atresia --> laparotomy
217
How is malrotation volvulus managed?
Ladd's procedure
218
When does malrotation volvulus present, and how is it diagnosed?
3-7 days
| Upper GI contrast or USS
219
What is the pathophysiology of cleft lip/ palate?
Failure of fusion of the frontonasal and maxiliary processes
220
Recall one condition that babies with cleft lip/ palate are at an increased risk of
Secretory otitis media
221
Recall 2 maternal risk factors for cleft lip/ palate
Antiepileptic/ BDZ use
222
What are some pre-surgical concerns to bear in mind in cleft lip/ palate?
Specialised feeding
Watch out for aiway problems
Pre-surgical lip-tapping/ nasal alveolar modelling to narrow cleft
223
What is the name for a left-sided diaphragmatic hernia?
Bochdalek hernia
224
When does diaphragmatic hernia form in utero?
At around 6-8 weeks gestation
225
Recall 2 factors affecting prognosis in diaphragmatic hernia
1. Liver position
| 2. Lung-to-head ratio
226
What are the signs and symptoms of diaphragmatic hernia?
Respiratory distress at delivery
| Concave chest at birth
227
How is diaphragmatic hernia diagnosed?
Routine USS following resp distress at birth
228
What does CXR show in diaphragmatic hernia?
mediastinum displaced to left, collapsed left lung, bowel loops in thorax
229
Recall the 1st and 2nd line management options for diagphragmatic hernia management
1st: NG tube and suction - prevents distention of intrathoracic bowel and allows breathing
2nd: Surgical reduction and repair, allowing re-expansion of the lung
- TPN/ ventilation needed for recovery
230
What is oesophageal atresia?
Malformation of the oesophagus so that it does not attach to the stomach
231
What is tracheo-oesophageal fistula?
Part of the oesophagus is joined to the trachea - often occurs alonsgide OA
232
What is the main risk of oesophageal atresia/ tracheo-oesophageal fistula?
Stomach acid can regurgitate into the lungs causing CLD/ BPD (bronchopulmonary dysplasia)
233
How will amniotic fluid be affected by a TOF that is preventing swallow?
Polyhydramnios
234
How should tracheo-oesophageal fistula/ oesophageal atresia be investigated?
NG tube to aspirate the stomach contents can quickly confirm or exclude
The gold standard = gastragaffin swallow
235
Recall the management of oesophageal atresia/ tracheo-oesophageal fistula
1. Replogle tube to drain saliva from oesophagus
| 2. Surgical repair (within a few days of birth) followed by NICU and ventilator support
236
What is biliary atresia?
Progressive fibrosis and obliteration of extra- and intra-hepatic trees, leading to chronic liver failure in 2 years
237
What are the subtypes of biliary atresia?
T1 - common bile duct atresia
T2 - cystic duct atresia
T3 - full atresia (>90%)
238
What are the signs and symptoms of bililary atresia?
Obstructive jaundic picture (pale stools, dark urine) with no vomiting
Hepatosplenomegaly
Normal BW --> faltering growth
239
Once a raised cBR has been identified, how can biliary atresia be diagnosed? What, then, is the gold standard?
USS showing triangular cord sign
LFT shows raised GGT
Gold standard: TIBIDA isotope scan (radioisotope scan of bile secretion) confirmed by ERCP and biopsy
240
What is the 1st-line management of biliary atresia?
Kasai hepatoportoenterostomy
Ligate fibrous ducts abive the join with the duodenum
Join an end of the duodenum directly to the porta hepatis of the liver
If unsuccessful --> transplant
241
How are the complications of biliary atresia managed?
```
Fat-soluble vitamins (as bile ducts affected)
Usodeoxycholic acid (this promotes bile flow)
Prophylatic Abx (to prevent cholangitis - cotrimoxazole)
```
242
What is small bowel atresia?
Congenital absence or complete closure of part of the lumen of the small bowel
243
Recall 3 associations of duodenal atresia
Congenital cardiac abnormalities
Down's
Polyhydramnios
244
What are the signs and symptoms of small bowel atresia?
Bile-stained vomiting is the main one
If non-bilious it may be duodenal rather than jejunal/ ileal
Abdominal distention
245
How should small bowel atresia be managed?
ABCDE to stabilise neonate+/- NG tube decompression
Surgical:
- primary anastomosis or LADD procedure if malrotation is present
- Need to examine the whole bowel while you're at it to exclude other multiple atretic segments
246
What is the main gene implicated in CAKUT?
PAX 2
247
Recall 4 renal conditions of CAKUT
Multicystic kidneys
Renal agenesis
Medullary sponge kidney
Horseshoe kidney
248
Recall 3 non-renal conditions of CAKUT
```
Pelvouteric junction obstruction
Vesicoureteral reflux (in 30% of children presenting with UTIs)
Bladder outlet obstruction
```
249
Recall some antenatal signs of CAKUT
Oligohydramnios
| Decreaed foetal UO
250
Recall some postnatal signs of CAKUT
```
Often present with UTI
Intra-abdominal mass
Haematuria
Renal calculi/ renal failure
Hepatosplenomegaly
```
251
What is Potter's sequence?
BL renal agenesis
Abnormal facies (widely separated eyes, low set ears, receding jaw)
Caused by OLIGOHYDRAMNIOS
252
Recall five important investigations you could do when looking for a cause of CAKUT
Renal USS
DMSA scan (Tc-99) - detects scarring and functional defects
MCUG (micturating cystourethrogram) - visualises anatomy (would see VUR)
MAG3 renogram (also Tc-99) - dynamic screen shows MAG3 being excreted into urine using furosemoide
Genetic karyotyping
253
What are some signs of an atypical UTI?
```
Poor UO
Sepsis
Abdo/bladder mass
Failure to respond in <48 hours
Raised creatinine
Infection with non-E coli organisms
```
254
How do you choose which investigation to use in UTI?
If atypical UTI, recurrent UTI, or first UTI
<6m: Renal USS
If recurrent UTI or atypical UTI <3 years old: DMSA scan
If VUR is suspected on USS, obstruction or trauma: MCUG/ VCUG
255
What is the pathophysiology of VUR?
The ureters enter the bladder perpendicularly --> shorter intramural course --> VUR
256
What is the main factor affecting prognosis of VUR?
Whether there's a renal cause or not: renal causes have a bad prognosis but non-renal causes have a pretty good prognosis if treated
257
What are the types of anorectal malformation, and how can you tell the difference between them?
Low anorectal anomaly = anus closed over - in a different position or narrower than usual + fistula to skin
High anorectal anomaly - bowel has closed end at high level, not connecting with anus - fistula is usually to bladder/ urethra/ vagina
258
What are the symptoms of anorectal malformation?
Absent/ delayed meconium
Swollen abdomen
Vomiting
If there's a fistula they may pass stool from an abnormal area
259
How should anorectal malformation be investigated?
Checked on neonatal check - it's a clinical diagnosis
260
How is anorectal malformation managed in babies?
Surgical correction by 9 months
261
What is the normal period of time in which the testes descend?
Usually by 3m but can be up to 6m
262
At what point should a referral to a paediatric surgeon be made, if there is UL testicular undescent?
3 months
263
At what point should a referral to a paediatric surgeon be made, if there is BL undescent of testes?
May have a pituitary cause so immediately refer to paeds/ endo
264
What are the medical and surgical management options for cryptorchidism?
Medical: beta-hCG (may or may not be given)
Surgical: orchidopexy
265
What is billious vomit a red flag for?
Intestinal obstruction (intussusception, malrotation, strangulated inguinal hernia)
266
What is haematemesis a red flag for?
Oesophagitis/ PUD
267
What is projectile vomit at 2-7 weeks a red flag for?
Pyloric stenosis
268
What is vomiting at end of paroxysmal coughing a red flag for?
Whooping cough
269
What is abdo distention a red flag for in a baby?
Intestinal obstruction/ strangulated inguinal hernia
270
What is hepatosplenomegaly a red flag for?
Chronic liver disease, inborn error of metabolism
271
What is blood in stool a red flag for?
Intussusception, gastroenteritis (salmonella, campylobacter)
272
What are bulging fontanelles/ seizures a red flag for?
Raised ICP
273
What is a failure to thrive a red flag for?
GORD, coeliac, chronic GI
274
What is chronic vomiting in an infant most likely to be due to?
GORD or a feeding problem
275
What is transient vomiting in a child most likely to be due to?
Gastroenteritis, URTI
276
What needs to be excluded urgently when an infant is vomiting?
Meningitis and UTI
277
What is a failure to pass meconium in first 24 hours a red flag for?
Hirschprung's
278
What is FTT/ growth failure a red flag for in a constipated child?
Hypothyroid/ coeliac
279
What is gross abdo distention with constipation a red flag for?
Hirschprung's/ other GI dysmotility
280
What is abnormal LL neurology/ deformation a red flag for?
Lumbosacral pathology
281
What is a red flag for spina bifida?
Sacral dimple above nasal cleft
282
What is perianal fistula/ abscess/ fissure a red flag for in infants?
Perianal Crohn's
283
What is the normal feed pattern in newborns?
45-90ml per 2-3 hours
284
What is the normal feed pattern in a 2 month old?
120-150mls per 3/4 hours
285
What is the normal feed pattern in a 6 month old?
Solids should be being introduced
286
By what age should bowel habit be similar for a child as an adult?
4 years
287
Recall the most common complication of long-standing constipation in children
Overdistention --> lose feeling needed to defaecate --> involuntary soiling with overflow
288
How can constipation be treated in children?
```
Stool softeners (eg movicol)
If unsuccessful consider stimulant laxatives (eg senna)
Movicol can be used as a maintenance therapy
```
289
How is constipation diagnosed in a child?
2+ of the following:
- <3 complete stools per week
- Hard, large stool or 'rabbit dropping'
- Overflow soiling 1+ year
- Distress, pain, bleeding associated with stool
290
Recall the management protocol for paediatric status epilepticus
1. ABC
2. Check blood glucose - if <3mmol/L --> IV glucose and then re-check
3.
If vascular access --> IV lorazepam
If no vascular access --> PR diazepam/ buccal midazolam
4.
If IV access: More lorazepam
If still no IV access - PR paraldehyde
5.
If previously had IV access to give IV lorazepam but it hasn't worked, try PR paraldehyde
6.
If no response in *10 mins* call for senior help
If not on oral phenytoin: phenytoin
If already on oral phenytoin: phenobarbital
7.
If no response within 20 mins, call anaesthetist/ intensivist -->
Induction with thiopental
Mechanical ventilation
--> PICU
291
What is the dose per kg of lorazepam to give to children in status epilepticus?
0.1mg/kg
292
What is the dose per kg of diazepam to give to children in status epilepticus?
0.5mg/kg
