Paeds Flashcards
1
Q
How does erythema toxicum neonatorum present?
A
aka newborn rash
around day 2-3, lasts about 24 hours
benign
white pinpoint papules at the centre of an erythematous base
looks like red blotches (baby acne) concentrated on trunk (and face)
2
Q
How does strawberry naevus present?
A
aka cavernous hemangioma
grows until 6-9 months then regresses
benign
small flat red area > raised dimpled strawberry like lesion
mostly on head/neck
3
Q
What tx can speed regression of a strawberry naevus?
A
topical propanolol
4
Q
What is congenital dermal melanocytosis? How does it present?
A
mongolian blue spot
flat irregular blue/blue gray spots mostly on back/buttocks
can be mistaken for bruises
benign + spontaneous resolution
5
Q
How does a stork bite/salmon patch present?
A
collection of blood vessels
pink patches on face/back of neck
blanch on pressure
get darker when crying/temp changes
fade over a few months
6
Q
What is a caput succedaneum? What is it caused by?
A
boggy superficial scalp swelling that can cross suture line
(CA = CS - cap succ = cross suture)
caused by:
- pressure against cervix during birth (traumatic/prolonged birth)
- ventouse delivery
7
Q
What is a cephalohaematoma? How is it managed?
A
subperiosteal haemorrhage due to damage to blood vessels during traumatic/prolonged/instrumental delivery
periosteum stuck tightly to skull = does not cross suture lines
usually does not require intervention
risk of anaemia + jaundice - monitor
8
Q
What are the differentials for a superficial scalp swelling in a newborn? What is the possible complication of both?
A
caput succedaneum = crosses suture lines
cephalohaematoma = does not cross suture lines, more likely to cause discolouration of skin in area
jaundice = key complication > bruising and blood break down overwhelming newborn liver
9
Q
When is neonatal jaundice abnormal?
A
very common
<24hrs old = always abnormal
2-14 days = normal
>2wks = can be either
10
Q
Neonatal jaundice is caused by raised levels of what?
A
bilirubin
11
Q
What are the causes of neonatal jaundice in neonates <24 hours old?
A
Sepsis :(
rhesus haemolytic disease
ACO incompatibility
TORCH infections
G6PD deficiency (x-linked recessive)
Hereditary spherocytosis (AD)
Cephalohematoma
Crigler-najjar syndrome (no UGT enzyme)
12
Q
When does rhesus haemolytic disease occur?
A
mum is rhesus D -ve and baby is rhesus D +ve
13
Q
What is the pathophysiology of rhesus haemolytic disease?
A
if mother is rhesus D -ve and baby is +ve
blood from the baby enters mother’s bloodstream > mother recognises baby’s rhesus D antigens on the rbcs as foreign and produces abs against them = mother is sensitised
sensitisation = usually fine in 1st pregnancy unless occurs early on
subsequent pregnancies = mother’s anti-D abs can cross placenta into fetus
if fetus is rhesus +ve > abs attach and cause immune system of fetus to attack own rbcs
= haemolysis > anaemia, high bilirubin
14
Q
How does normal physiological jaundice occur in the newborn?
A
- high conc of rbc in fetus + neonate
- rbcs are more fragile (70 day lifespan) > release lots of bilirubin
- less developed liver function > normally excreted by placenta > no placenta > normal rise in bilirubin shortly after birth = mild yellowing of skin and sclera from 2-7 days
15
Q
Causes of neonatal jaundice can be split into increased production and decreased clearance of bilirubin. Give some examples of each.
A
increased prod:
haemolytic disease, ABO incompat, sepsis, G6PD def, haemorrhage, cephalohaematoma
decreased clearance: prematurity, breast milk jaundce, cholestasis, extrahepatic biliary atresia, endocrine disorders, gilbert
16
Q
What is kernicterus? How does it happen?
A
bilirubin can cross BBB > unconj bil deposition in abasal ganglia + brainstem after it exceeds the albumin binding capacity
excessive levels can lead to
brain damage
17
Q
What are the causes of prolonged jaundice? When is jaundice considered prolonged?
A
> 14 days
21 days in a premature baby
biliary atresia
hypothyroidism
breast milk
CF
galactosaemia
UTI
gilbert syndrome
18
Q
How is neonatal jaundice managed?
A
total bilirubin on tx threshold chart
phototherapy
severe jaundice - exchange transfusion
19
Q
What is phototherapy? How does it correct jaundice?
A
light-box shines blue light on baby’s skin
converts unc bil into isomers that can be excreted in the bile/urine without needing conjugation in the liver
20
Q
How does kernicterus present?
A
less responsive, floppy, drowsy baby with poor feeding
can cause seizures, hypotonia, opisthotonos
21
Q
Is brain damage caused by kernicterus permanent?
A
yes
> cerebral palsy, LD, deafness
22
Q
Why are babies who are breastfed more likely to become jaundiced?
A
components inhibit the ability of liver to process bilirubin
more likely to become dehydrated if not feeding adequately > slow passage of stools > increases absorption of bilirubin in intestines
23
Q
How should neonatal jaundice be investigated?
A
FBC (anaemia, haemolysis)
blood film (G6PD, spherocytosis
unconjugated (extra-hepatic source)
conjugated (hepatobiliary source)
blood type of mother + baby (ABO/rhesus incompatability)
direct combs test (haemolysis)
thyroid function (hypo)
LFTs (hepatitis)
24
Q
What is a tx threshold chart for neonatal jaundice?
A
age versus total bilirubin
25
How is haemolytic disease of the newborn prevented?
anti D immunoglobulin at 28 weeks + after sensitising events + 1 dose after birth if mother is rhesus neg
26
What bloods groups are mother and baby for ABO incompatability to occur?
when mother is type O and baby is type A or B
27
What are possible sensitisation events during pregnancy?
antepartum haemorrhage
amniocentesis procedures
abdo trauma
28
What is Kleinhauer test?
checks how much fetal blood has passed into the mother's blood during a sensitisation event
29
What are the 4 ABO blood groups and their antigens?
A - A antigen
B - B antigen
AB - both A and B
O - no ABO antigens
30
When do abs to ABO antigens start to be produced in an individual?
individuals generate IgM ABs to antigens absent from their rbcs without prior exposure
begins at birth, detectable from 3 months ish
31
Which abs are produced in each ABO blood group?
A - anti-B
B - anti-A
AB - no ABO abs
O - anti-A, anti-B, anti-AB
32
Which blood types can each blood group receive? Which are the universal recipient and donor?
A - A, O
B - B, O
AB - A, B, AB, O (universal recipient)
O - O (universal donor)
33
Why does ABO incompatibility occur?
ABO Abs are typically IgM = does not cross placental barrier
Small number of people develop IgG ABO Abs > these mothers can have haemolytic disease of the fetus and newborn due to ABO incompatibility
34
Which type of ab can cross the placenta?
IgG only
35
What are the TORCH infections?
toxoplasmosis
other (syphilis, parvovirus, varicella zoster)
rubella
CMV
herpes/hepatitis/HIV
36
What can neonatal jaundice be exacerbated by?
polycythaemia (gestational diabetes)
bruising (caput succedaneum and cephalohaematoma)
37
What are the causes of (normal) jaundice between 2 and 14 days?
physiological
breast milk
infection > dehydration
38
Why can congenital hypothyroidism cause jaundice?
slows everything down > impaired bilirubin excretion
39
How is congential hypothyroidism found?
newborn blood spot screening test
40
How do babies with congenital hypothyroidism present?
prolonged neonatal jaundice
poor feeding
constipation
increased sleeping
reduced activity
slow growth + development
41
What two things can happen to the thyroid gland that causes hypothyroidism?
dysgenesis - underdeveloped gland
dyshormonogenesis - full developed but does not produce enough hormone
42
What is biliary atresia?
section of the bile duct is narrowed/absent
43
Why does biliary atresia cause jaundice?
> cholestasis > conj bilirubin still excreted into the bile > bile can't be transported from liver to bowel and isn't excreted > jaundice
44
How does biliary atresia present?
prolonged jaundice
45
What is the initial investigation for biliary atresia?
conjugated and unconjugated bilirubin
> high proportion of conjugated = liver processing it and not excreting it
46
How is biliary atresia treated?
surgery - attach small intestine to liver
often require a liver transplant eventually
47
Why babies are at higher risk of jaundice and kernicterus?
premature babies
due to immature liver
48
How does oesophageal atresia/tracheo-oesophageal fistula present?
polyhydramnios (cannot swallow AF)
blowing bubbles
salivation/drooling
cyanotic episodes on feeding
resp distress/aspiration
49
How is oesophageal atresia/tracheo-oesophageal fistula diagnosed?
pass NG tube and x-ray > NG tube will coil in oesophagus
abdo XR - no bubbles = isolated OA
50
What is gastroschisis?
paraumbilical defect (hole in the abdominal wall beside belly button) - always to right of the cord
intestinal contents often on outside of body
51
What is gastroschisis caused by?
likely a vascular accident in early embryonic life
52
How do gastroschisis and omphaloceles present on investigation?
antenatal scans usually
raised AFP
intestines likely to be outside of body at birth
may have comorbid intestinal atresia
53
How is gastroschisis treated?
requires LSCS delivery
staged corrective surgery
TPN slowly introduced
54
What is an omphalocele?
ventral defect in umbilical ring with herniation of abdominal contents covered by peritoneum
(similar to gastroschisis but covered by thin sac)
55
What can cause an omphalocele?
small defect - beckwith-wiedemann syndrome
large defects - pulmonary hypoplasia
56
How is an omphalocele treated?
may need LSCS if large
protect herniated contents, prevent hypothermia
gastric decompression
staged surgical repair
57
When is a congenital diaphragmatic hernia likely to present?
prenatal US
58
How does a CDH usually present?
newborn resp distress (may need resuscitation at birth)
if small - resp distress after feeding
displaced apex beat
bowel sounds in hemithorax
scaphoid abdomen
59
What are the causes of small bowel obstruction?
duodenal atresia
malrotation + volvulus
meconium ileus in CF
60
What condition is duodenal atresia a/w?
Down's (1/3rd)
61
What XR is duodenal atresia likely to present with?
double bubble
62
What is a volvulus? When does it present?
loop of intestine twists round itself and the mesentery attached to it > bowel obstruction
63
When does a volvulus generally present?
presents later (2-30 days) so meconium will have passed normally
64
What XR sign does volvulus present with?
coffee bean sign
65
What is meconium ileus? What is it a/w?
pathognomonic for CF, usually the 1st sign
meconium thick + sticky > gets stuck and obstructs bowel
66
When should meconium be passed by? What should it look like?
24 hours
black
67
How does meconium ileus present?
not passing meconium within 24hrs
abdo distention
vomiting
SBO
68
What test should be done if a baby has meconium ileus?
heel prick for CF
69
How can meconium ileus be treated?
therapeutic contrast enema (gastrografin) to pass it
70
How can meconium ileus be differentiated from Hirschsprung's after an enema?
will pass after enema in MI, not after hirschsprung
71
What is hirschsprung's disease?
congenital condition where nerve cells of myenteric + submucosal plexus absent in a segment of the colon (usually rectosigmoid)
72
What is the pathophysiology of Hirschsprung's?
in fetal development parasympathetic ganglion cells start high in GI tract and migrate down > in hirschsprung's they don't travel all the way so a section if left without them
responsible for stimulating peristalsis > bowel looses motility + stops passing food along
73
Does the aganglionic section of colon in Hirschsprung's relax or constrict?
constricts > obstruction
proximal to obstruction > distended and full
74
How does Hirschsprung's present?
functional LBO with failure to pass meconium within 24hrs
chronic constipation
abdo distention
late bilious vomiting
poor weight gain/failure to thrive
75
What would happen after a PR in a newborn with Hirschsprung's?
contracted distal segment followed by rush of liquid stool and temporary relief of symptoms
76
How is a Hirschsprung's investigated? What is the GS?
AXR - contracted distal segment + dilated proximal segment
barium enema
GS = rectal suction biopsy
77
What complication can be caused by Hirschsprung's?
Hirschsprung-associated enterocolitis
fever
abdo distention
diarrhoea +/- blood
features of sepsis
= life threatening, made lead to toxic megacolon and perforation fo the bowel
78
How is Hirschsprung's-associated enterocolitis treated?
abx
fluid resuscitation
decompression of obstructed bowel
79
How is Hirschsprung's managed?
if unwell - fluid resus, mx of BO
surgical removal of aganglionic section = swenson procedure
80
What are the causes of intestinal obstruction?
meconium ileus
Hirschsprung's
oesophageal/duodenal atresia
intussusception
imperforate anus
malrotation with a volvulus
strangulated hernia
81
What kind of vomiting does a bowel obstruction present with?
persistent bilious vomiting - contains bright green bile
82
What abnormal bowel sounds may be heard with a bowel obstruction?
high pitched
tinkling early on > absent later
83
How does a bowel obstruction generally present on XR?
dilated loops proximal to obstruction
collapsed loops distal
absence of air in rectum
84
What is the general management of a bowel osbtruction?
NBM
NG tube - drain stomach and stop vomiting
IV fluids
85
What are the RFs for undescended testes/cryptorchidism?
FHx
low birth weight
SGA
prematurity
maternal smoking
86
Undescended testes in older children/after puberty leads to a higher risk of what?
testicular torsion
infertility
testicular ca
87
How are undescended testes managed?
W&W in newborns - most will occur spontaneously at 3-6mo
longer it takes, less likely it will happen spontaneously
6mo > refer to urologist
orchidopexy = surgical correction at 6mo-1yr
88
When should testicular descent occur during pregnancy?
8th month
requires testosterone
89
What is the difference between indirect and direct hernias?
almost all indirect - through deep then superficial inguinal ring
direct - defect in posterior inguinal wall and passes through to superficial inguinal ring, in premature babies with weak wall
90
What is the cause of a neonatal inguinal hernia?
patent processus vaginalis - failure to become tunica vaginalis (serous membrane that covers the testes)
91
What are the signs of an inguinal hernia?
bulge lateral to pubic tubercle
more prominent on crying
most can be reduced
92
What is an incarcerated inguinal hernia? What are the signs? What is the risk?
contents of hernia become stuck in groin and can't be reduced back into abdomen
tender lump
irritable
vomiting
risk of strangulation
93
What test can differentiate between a direct and indirect inguinal hernia?
ring occlusion test
94
How is an inguinal hernia managed?
always surgery due to risk of incarceration
emergency surgery if incarcerated
95
What is hypospadias?
presence of urethral meatus on ventral aspect of penile shaft
96
What should be considered if a child has hypospadias + undescended testes?
causes of low testosterone
testosterone needed for meatus to move distally
97
How do children with hypospadias present?
meatus on ventral surface
hooded foreskin
spraying on urination
98
How is hypospadias managed?
surgery not necessary unless parents want it
cannot have circumcision as skin needed
99
What is testicular torsion?
twisting of spermatic cord cutting off blood supply to testicle
100
What are the RFs for testicular torsion?
high testosterone - larger testes
neonates + pubertal teenagers
undescended testes
bell clapper deformity
101
How does testicular torsion present?
testicle higher and more horizontal
acutely swollen and tender
vomiting due to pain
absent cremasteric reflex (stroke inner thigh, testicle doesn't elevate)
negative prehn's sign (pain not relieved on elevation)
102
How can testicular torsion and epididymitis be differentiated?
prehn's sign
+ve = pain relieves on elevation = epididymitis
-ve = pain not relieved = torsion
103
How is testicular torsion managed?
surgical emergency - within 6 hours
after 24hrs very poor chance of testicular survival
104
What is intussusception?
a section of the bowel telescopes into another
usually ileum into caecum
105
What conditions is intussusception a/w?
often preceded by a viral illness
resp: CF
gastro: intestinal polyps, meckel diverticulum
lymphoma, henoch-schonlein purpura
106
How does intussusception present?
severe colicky abdo pain, legs draw up
pale, lethargic unwell child
signs of SBO (vomiting, constipation, distention)
sausage shaped mass in abdomen (often RUQ)
redcurrant jelly stool (due to bowel ischaemia = late sign)
107
How is intussusception investigated?
USS - target/donut sign
AXR - dilated proximal bowel loops
108
How is intussusception managed?
rectal air insufflation (pump air into colon to push it out)
surgical correction if fails/signs of ischaemia
109
What is pyloric stenosis?
hypertrophy of the pylorus preventing food traveling from the stomach to the duodenum
110
What age is intussusception likely to happen?
3mo - 2yrs
111
How does pyloric stenosis present?
projectile non bilious vomiting shortly after feeding
thin pale hungry baby, failing to thrive
first few weeks of life
dehydration
firm round mass in upper abdomen
hypochloric hypokalaemic metabolic alkalosis
112
How is pyloric stenosis investigated?
test feed - feel for olive size mass in RUQ
USS - thickened pylorus
ABG - hypochloric hypokalaemic metabolic alkalosis
113
What is necrotising entercolitis?
inflammatory bowel necrosis
114
What are RFs for NEC?
PREMATURITY - resp distress + hypoxia
indomethacin (NSAID) for PDA > bowel ischaemia (causes vasoconstriction of mesenteric arteries)
115
How does NEC present?
feed intolerance
vomiting +/- bile staining
PR fresh blood + mucus
abdominal distention with taught shiny skin
116
How is NEC diagnosised?
FBC - low platelets = poor prognosis
blood cultures
clotting screen - can lead to DIC
AXR: pneumatosis intestinalis/intramural air = pathognomonic, dilated bowel loops
117
How is NEC treated?
stop oral feeds
cefotaxime + vancomycin
laparotomy if rapid distention + sigs of perforation
118
What is GORD?
contents of stomach reflux through the LOS into the oesophagus, throat and mouth
119
Why are babies prone to GORD?
1. immaturity of the LOS
normal for a baby to reflux feeds - most stop spontaneously after 1yr
2. mostly liquid diet
3. mostly horizontal position
120
What is the most common cause of vomiting in infants?
GORD
121
What vomiting occurs with GORD?
persistant vomiting, NO bile
122
How is GORD diagnosed?
clinically usually
red flags eg bilious vomiting > referral to paeds
severe sx > 24hr pH monitoring
123
How is GORD treated?
1. reassurance, smaller more frequent feeds, sit upright after feeds, thickening agents eg carobel for bottles, gaviscon (alginate therapy)
2. PPI or H2 receptor antagonist
D2 antagonist eg domperidone (enhance gastric emptying) could also be tried
3. unresponsive to tx + >1yr: nissen fundoplication
124
How can vomiting due to GORD vs CMPA vs intestinal obstruction vs infection be differentiated?
GORD - chronic, recurrent regurg, feeding difficulty, arching of back/neck, sore throat
CMPA - chronic, abdo pain, eczema, flatulence, bloody stools, diarrhoea/constipation
obstruction - acute on chronic bilious vomiting, constipation, abdo pain
infection - acute D&V + sx of localised infection eg abdo pain in GE
125
What are the two types of CMPA? How can they be differentiated by the timing of their sx?
IgE mediated - type 1 hypersensitivity > immediate sx onset after only small amounts
Non-IgE mediated > sx occur about 72hrs after ingestion
126
What are the clinical features of IgE mediated CMPA?
urticaria, pruritus
colicky abdo pain, vomiting, bloody stool
rhinorrhea, itchy nose
127
What are the clinical features of non-IgE mediated CMPA?
loose frequent stool with blood + mucus
colicky abdo pain
128
How is CMPA diagnosed?
IgE > skin prick (4mm = +ve)
Non IgE > temporary removal from diet then reintroduction to see if sx return
129
What is sandifer syndrome?
brief episodes of abnormal movements a/w GORD in infants
otherwise neurologically normal
usually resolves as reflux improves
torticollis - forceful contraction of neck muscles causing twisting of neck
dystonia - abnormal muscle contractions causing twisting movements - arching back, unusual posture
130
How are breastfed and bottle fed babies tx for CMPA?
breastfed > remove milk from mum's diet
bottle > extensively hydrolysed formula
131
What is functional constipation?
no significant underlying cause except simple lifestyle factors
number of times someone opens their bowels varies between individuals eg breastfed babies generally open them much less
132
What are the typical features of constipation in a child?
<3 stools/week
hard rabbit dropping stools that are difficult to pass + a/w straining, pain and bleeding
retentive posturing
abdo pain that waxes and wanes
avoidance of eating due to fear of pain
133
What can happen to bowel movements in chronic constipation?
overflow soiling - rectum distends leading to loss of sensation > incontinence with loose smelly stools
134
When is faecal incontinence/encopresis considered pathological?
4 yrs
usually due to chronic constipation where the rectum has stretched and lost sensation > loose stools bypass blockage and leak out
135
What are some pathological causes of encopresis?
spina bifida
hirschprung's disease
cerebral palsy, LD, psychosocial stress/abuse
136
What lifestyle factors can contribute to constipation?
habitually not opening bowels
low fibre diet
poor fluid intake and dehydration
sedentary lifestyle
psychosocial problems
137
What are some secondary causes of constipation?
hirschsprung's disease
CF - meconium ileus
IO
anal stenosis
hypothyroid
spinal cord lesons
cows milk intolerance
sexual abuse
138
How should constipation be investigated?
examination
look for red flags
FBC, TFTs, anti TTG
long term/suspicion of hirschsprung's > paeds referral
139
How should constipation be tx?
reassurance, hydration, toilet habits (scheduling visits, bowel diary, rewards, high fibre diet
osmotic laxative eg movicol = 1st line
+/- stimulant laxative eg senna
may require disimpaction regimen initially
tx for 6m - slowly wean off
140
What is bronchiolotis?
viral LFTI leading to inflammation and infection of the bronchioles
141
What is the most common cause of bronchiolitis?
RSV - respiratory syncytial virus
142
Which children is bronchiolitis more likely to happen to?
very common in children under 1yr (mostly under 6mo) in winter
143
Why does bronchiolitis affect children differently to adults?
smaller airways > small amount of inflammation/mucus in airway has significant effect on infant's ability to circulate air to the alveoli > harsh breath sounds
144
What are the S&S of bronchiolitis?
coryzal sx: runny/snotty nose, sneezing, mucus in throat, watery eyes
precede a dry cough
signs of resp distress
dyspnoea, tachypnoea
poor feeding
mild fever
apnoeas
wheeze + crackles on auscultation
145
What are the signs of resp distress?
raised resp rate
use of accessory muscles to breath - sternocleidomastoid, abdo, intercostal
inter/subcostal recessions
nasal flaring
head bobbing
tracheal tugging
cyanosis
abnormal airway noises
146
What is a wheeze? When is it heard? Where from?
continuous whistling musical sound
polyphonic - caused by air being forced through multiple lower airways
affects lower airways, comes from lungs
heard more on expiration
147
What is stridor? When is it heard? Where from?
high pitched turbulent sound, monophonic - through singular upper airway
affects upper airway outside of chest cavity
heard more in inspiration
= emergency - sign of impending airway obstruction
148
What are the causes of a wheeze?
asthma, COPD
bronchiolitis, bronchitis, bronchiectasis
viral induced wheeze
pneumonia
pulmonary oedema
PE
HF
149
What are the causes of stridor?
croup
epiglottitis
bacterial tracheitis
diphtheria
laryngomalacia
inhaled foreign body
angioedema/anaphylaxis
150
Why does grunting occur?
exhaling with glottis partially closed to increased +ve end-exp pressure
151
How long does bronchiolitis tend to last?
starts as an URTI with coryzal sx - usually half get better
other half develop chest sx
sx worst on day 3/4
last 7-10 days total and recover within 2/3 weeks
152
Infants who have had bronchiolitis are at higher risk of what in childhood?
viral induced wheeze
153
How is bronchiolitis managed?
usually supportive mx - adequate intake, saline nasal drops
humidified o2
admission if <3mo/pre-existing condition/clinically unwell
supplementary o2 if sats below 92%
ventilatory support if required
154
What are the 3 stages of ventilatory support?
1. high-flow humidified O2: via tight nasal cannula, delivers air and O2 continuously with some added pressure, adds +ve end-exp pressure (PEEP) to maintain airway at end of exp
2. continuous positive airway pressure (CPAP): sealed nasal cannula that can deliver much higher and more controlled pressures
3. intubation + ventilation: inserting endotracheal tube into trachea to full control ventilation
155
What is the best test to monitor resp distress/children on ventilatory support? What results indicate poor ventilation?
capillary blood gas
rising pCO2 - airways have collapsed and can't clear CO2
falling pH - CO2 building up and not able to buffer acidosis this creates = resp acidosis, if + hypoxic = T2RF
156
What preventative monthly injection can be given for bronchiolitis caused by RSV? Which babies are given it?
IM palivizumab (mab) - provides passive protection
for high risk babies eg premature, congenital heart disease, CF, bronchopulmonary dysplasia
157
How is bronchiolitis diagnosed? What is a DDx that must be ruled out?
clinically
CXR to rule out pneumonia - suspect if high fever + localised signs suggesting consolidation
158
What is croup?
URTI causing oedema in the larynx, trachea and bronchi (acute laryngotracheobronchitis)
159
What is croup caused by?
parainfluenza virus
sometimes influenza, adenovirus, RSV
160
When/which children get croup?
children between 6mo and 6yrs, in autumn
161
What are the S&S of croup?
initially low grade fever + coryzal sx
stridor
hoarse voice
BARKING/SEAL-LIKE COUGH in cluster episodes
breathing difficulty
nocturnal sx
162
How is croup treated?
supportive tx at home usually - reassurance, fluids, rest, measures taken to avoid spread, if <12mo - low threshold for admission
1st line = oral dexamethasone (2nd = prednisolone)
usually improves in 48hrs, repeat after 12hrs if not better
then stepwise:
O2
nebulised budesonide
nebulised adrenaline if severe
intubation + ventilation
163
Croup caused by diptheria causes what?
epiglottitis - high mortality
164
What is epiglottitis caused by?
haemophilus influenza B
others - strep pyogenes, strep pneumoniae
165
Why has the incidence of influenza reduced?
HiB vaccine - be suspicious in children without the vaccine
166
What are the S&S of epiglottitis?
very acute onset
4Ds: dysphagia, dysphonia (muffled voice), distress, DROOLING
extremely sore throat
high fever, look septic/unwell
no/minimal cough
tripod position - sx improve on sitting upright and learning forward (often child will be immobile sitting upright with open mouth)
increasing resp difficulty
inspiratory SOFT STRIDOR
167
How is epiglottitis investigated?
no time!!
in theory:
laryngoscopy - beefy-red-stuff oedamatous epiglottitis = diagnostic
lateral neck XR - thumbprint sign
exclude foreign body
168
How is epiglottitis managed?
life threatening emergency - need senior paediatrician + anaesthetist
DO NOT EXAMINE THROAT + don't panic pt
protect airway - nasotracheal intubation if needed, most don't need
emergency tracheostomy if throat closes - admit to ITU if intubated
BCs once airway secured
IV cefotriaxone + dexamethasone
rifampicin for close contact prophylaxis
169
What are the complications of epiglottitis?
death
epiglottic abscess - collection of pus around epiglottitis, also a life-threatening emergency, tx similar
170
How is croup and epiglottitis differentiated?
epiglottitis can present similar but with a more rapid onset
look for: unvaccinated children, fever, sore throat, difficulty swallowing, sitting forward and drooling
171
How is croup differentiated from bacterial tracheitis?
BT has more toxic appearance
172
How is croup differentiated from laryngomalacia?
laryngomalacia has no chest signs
173
What conditions are asthma a/w?
atopic conditions eg eczema, hay fever, food allergies
fhx of atopic conditions
174
What triggers are asthma a/w?
infection
exercise
cold air
dust
animals
smoke/pollution
food allergens
NSAIDs/beta blockers
175
What are the 3 components in the pathophysiology of asthma?
reversible increase in airway resistance in response to irritant stimuli
caused by:
1. bronchial smooth muscle contraction - hypersensitive
2. mucosal inflammation (t-helper cell activation + cytokine production)
3. increased mucus production
176
What is bronchoconstriction caused by asthma reversible with?
bronchodilators
177
How does the sympathetic and parasympathetic nervous system affect bronchial calibre?
sympathetic: bronchodilation + decreases mucous secretion via B2-adrenoceptors
parasympathetic: bronchoconstriction + increases mucous secretion via M3 receptors
178
What features of a history make a resp presentation less likely to be asthma?
wheeze only related to coughs/colds > viral induced wheeze
isolated/productive cough
normal ix
no response to treatment
unilateral wheeze > focal lesion/foreign body/infection
179
What are the sx of asthma?
dry cough with bilateral widespread polyphonic wheeze, SoB and a tight chest
diurnal variability - worse at night and early morning
episodic sx with intermittent exacerbations
sx improve with bronchodilator
typical triggers
low exercise tolerance
hx/fhx of other atopic conditions
sx better on days off work
180
What are the signs of an acute asthma attack?
progressively worsening SoB
signs of resp distress
tachypnoea
181
What obs and signs indicate a severe/life-threatening asthma attack?
SpO2 < 92%
severe = too breathless to talk/feed, HR >140, RR >40, use of accessory muscles
life-threatening = silent chest, poor resp effort, agitation, altered consciousness, cyanosis, trachea tug, subcostal recessions
182
What kind of wheeze is a/w asthma?
Bilateral widespread expiratory polyphonic wheeze
183
What chest sounds are a red flag in an asthmatic child?
silent chest > chest so tight that child can't move air through airways to create a wheeze
a/w reduced resp effort due to fatigue
no wheeze doesn't always = no resp distress!
184
How is asthma diagnosed?
diagnosis = ix demonstrate variable airway obstruction/inflammation + clinical picture
if ix inconclusive > try tx and monitor sx - improvement = diagnostic
5-16yrs:
1. spirometry
2. if +ve > BDR test
3. still uncertain > fractional exhaled NO
4. still uncertain > monitor PEF variability for 2-4 weeks
under 5yrs: based on S&S, review regularly, do ix if still symptomatic at 5yrs
185
What are the 2 mainstays of asthma treatment?
bronchodilator relievers
anti-inflammatory preventors
186
How is asthma treated in <5yrs?
1. SABA inhaler PRN
2. add low dose corticosteroid inhaler OR leukotriene antagonist
3. add other option from step 2
4. refer
187
How is asthma treated in >5yrs?
1. SABA PRN
2. add low dose corticosteroid inhaler
3. add LABA, continue only if good response
4. titrate up corticosteroid to medium dose, consider adding an oral leukotriene receptor antagonist/oral theophylline/inhaled LAMA
5. titrate up corticosteroid to high dose, combine additional tx from step 4/add oral beta-2 agonist
6. refer
7. consider oral daily steroids at lowest possible dose
188
What are the basic steps of treating an acute asthma attack?
O2 (if sats <94%/working hard)
bronchodilators - beta agonist +++
steroids - PO prednisolone/IV hydrocortisone (reduce airway inflammation)
abx if bacterial cause suspected - amoxicillin/erythromycin
189
How should a salbutamol inhaler be used for a mild asthma attack?
regular salbutamol inhalers via a spacer
4-6 puffs every 4hrs
190
How should a mod-severe asthma attack be managed?
stepwise until control achieved:
1. salbutamol inhalers via spacer - start with 10 puffs every 2hrs
2. nebulisers with salbutamol/ipratropium bromide
3. oral prednisolone - 1mg/kg 1/day for 3 days
4. IV hydrocortisone
5. IV MgSO4
6. IV salbutamol
7. IV aminophylline
peak flow before and after tx, must be >75% after tx before discharge
control achieved > gradually work back down
still no control > need anaesthetist + ICU, consider intubation + ventilation
191
A child can be discharged after an acute asthma attack when they are needing how much salbutamol?
well on 6 puffs 4hrly
prescribe reducing regime for home to get down to 2-4 puffs PRN
192
What is a possible dangerous SE of salbutamol?
causes K+ to be absorbed into cells > hypokalaemia
consider monitoring serum K+
also tachycardia, tremor
193
What is the most common reason for uncontrolled asthma?
poor technique
194
What medications are CI in asthma?
NSAIDS - inhibit COX pathway > promote arachidonic acid conversion to leukotrienes > can provoke asthma
Beta-blockers > CI!!! - reduce effectiveness of B2-agonists
195
What is the fractional exhaled nitric oxide test for asthma?
measured exhaled NO = marker of eosinophilic inflammation
196
What is spirometry? What is a poor result?
measures volume of air expelled from lungs after maximal inspiration
FEV1:FVC < 70%
197
How can spirometry be used to check reversibility?
bronchodilator reversibility: check spirometry change before and 15 mins after SABA inhalation
improvement in FEV1 of 12%+
198
What is peak expiratory flow? What is a result indicative of asthma?
measures max speed of expiration
monitor twice daily for 2-4wks
variability 20%+
199
What is a direct bronchial challenge test?
measures change in spirometry after methacholine/histamine inhalation
200
How does a SABA work? Give an example? What are the SEs?
B2-agonism > bronchial smooth muscle relaxation > dilates bronchi > improves airflow in obstructed airway
eg salbutamol
SEs: TREMOR, tachycardia, palpitations
201
How do ICS work? Give an example? What are the SEs?
reduce leukocyte proliferation + downregulate pro-inflammatory cytokine, leukotriene and chemokine production > reduces mucosal inflammation, dilates airways + reduces mucous secretion
eg beclometasone
SEs: ORAL CANDIDIASIS, hoarse voice, regular high dose > adrenal suppression (monitor growth)
202
How do leukotriene receptor antagonists work? Give an example.
down-regulate inflammatory leukotrienes
eg montelukast
203
Give an example of a LABA. What must they always be given alongise?
salmeterol
given alongside an ICS
204
Give an example of a LAMA. How do they work?
tiotropium
bind to M3 muscarinic receptors and block bronchoconstriction effect of acetylcholine at these receptors in the airway smooth muscle
205
What class of drug is theophylline?
xanthine - bronchodilator
206
What is viral induced wheeze?
acute wheezy illness caused by viral infection
207
What viruses generally cause a viral induced wheeze?
RSV, rhinovirus
208
Why do viral illnesses lead to a viral induced wheeze?
children have small airways > inflammation + oedema occurs in virus > restrict air flow + inflammation triggers bronchoconstriction = proportionally large air flow restriction
209
How do distinguish between a viral induced wheeze and asthma?
VIW: present before 3yrs, no atopic hx, only occurs during viral infections
asthma: can be triggered by a viral infection but has lots of other triggers, variable and reversible airflow obstruciont
210
What is the classic presentation of a viral induced wheeze?
viral illness (fever, cough, coryzal sx) for 1-2 days before:
SoB
signs of resp distress
expiratory wheeze throughout the chest
211
What should a focal wheeze make you concerned about?
inhaled foreign body
tumour
212
How is viral induced wheeze managed?
same as acute asthma attack
213
What is the genetic mutation that causes CF? How is it passed on?
AR
mutation of the CF transmembrane conductance regulatory gene on chromosome 7 > affects mucous glands
most common variation affects a particular type of Cl- channel
214
What are the key consequences of the CF mutation?
1. thick pancreatic + biliary secretions > blockage of the ducts > lack of digestive enzymes in digestive tract eg pancreatic lipase
2. low volume thick airway secretion > reduce airway clearance > bacterial colonisation > susceptibility to airway infections
3. congenital bilateral absence of vas deferens in males > healthy sperm but no route from testes to ejaculate > male infertility
215
How is CF screened for?
newborn bloodspot test
216
What is usually the first sign of CF?
meconium ileus > meconium thick and sticky > gets stuck and obstructs the bowel
> no meconium passed within 24hrs, abdominal distention, vomiting
= pathognomonic for CF
217
What are the sx of CF?
chronic cough
thick sputum production
recurrent RTIs
steatorrhoea (lack of lipase)
abdo pain + bloating
salty sweat
FtT - poor weight and height gain
218
What are the signs of CF?
low weight/heigh on growth chart
nasal polyps
finger clubbing
crackles/wheezes on auscultation
abdo distention
219
What are the causes of clubbing in children?
hereditary
cardiac: cyanotic heart disease, IE
resp: CF, TB
gastro: IBD, liver cirrhosis
220
What are the three key diagnostic tests for CF?
newborn blood spot testing - picks up most cases
GS = sweat test
genetic testing for CFTR gene (on amniocentesis, chorionic villous sampling or as blood test after birth)
221
What is the CF sweat test?
electrodes placed either side of patch of skin > small current passed causes skin to sweat > sweat absorbed and tested for Cl- conc
222
What are the most common colonisers in the lungs in children with CF?
struggle to clear secretions > lots of moisture and O2 for colonies
staph aureus
pseudomonas
223
What can CF pts take long-term to prevent staph aureus chest infection?
prophylactic flucloxacillin
224
Why are children with CF advised to avoid contact with each other?
pseudomonas difficult to get rid of - becomes resistant to multiple abx
significant increase in morbidity and mortality
easily passed on between CF pts
225
How is a pseudomonas colonisation treated in a child with CF?
long-term nebulised abx eg tobramycin
or oral ciprofloxacin
226
How is CF managed?
chest physio + exercise
prophylactic fluclox
bronchodilators
nebulised DNase - breaks down DNA material in resp secretions > less viscous
nebulised hypertonic saline
high calorie diet - due to malabsorption, increased resp effort, coughing, infections
CREON (pancrelipase)
vaccines - pneumococcal, influenza, varicella
227
What conditions do CF pts need to be regularly monitored and screened for?
pseudomonas - sputum
diabetes
OP, vit D deficiency
liver failure
228
What is the prognosis of CF? What affects the prognosis?
depends on severity of sx, type of mutation, adherence to tx, frequency of infection/lifestyle
median LE = 47yrs
90% have pancreatic insufficiency
50% have CF related diabetes
30% have liver disease
most males infertile
229
What is laryngomalacia?
the supraglottic larynx is structured in a way that causes partial airway obstruction
short aryepiglottic folds > pulls on epiglottis = omega shape > tissue surrounding is softer/less tone > can flop across the airway, esp during inspiration = partial occlusion
230
How does laryngomalacia present?
intermittent inspiratory stridor, prominent on feeding, upset, lying on back, in URTI
no resp distress
generally resolves with age
231
How does pneumonia present?
cough - wet, productive
high fever
tachypnoea, tachycardia
increased work of breathing
lethargy
delirium
232
What are the characteristic chest sounds heard in pneumonia?
bronchial breath sounds - harsh sounds equally loud in insp + exp due to consolidation of lung tissue around airway
focal coarse crackles - due to air passing through sputum
dullness to percussion - due to lung collapse or consolidation
233
What is the most common bacterial and viral cause of pneumonia?
bact: strep pneumonia
viral: RSV
234
What is the 1st line mx for pneumonia?
amoxicillin
+ macrolide eg erythromycin to cover atypical pneumonia/pencillin allergy
IV if sepsis/malabsorption
235
What virus is mumps caused by?
RNA paramyxovirus - mumps
236
How is mumps transmitted?
resp droplets
237
How does mumps present?
prodrome of coryzal sx - fever, muscle aches, lethargy, reduced appetite, headache
PAROTID GLAND SWELLING - uni/bilateral, a/w pain
trismus - spasm of muscles of mastication when chewing
possibly ear ache
238
What are the possible complications of mumps?
pancreatitis (abdo pain)
orchitis (testicular pain + swelling)
meningitis/encephalitis (confusion, neck stiffness, headache)
sensorineural hearing loss
239
How is mumps managed?
notifiable disease
supportive - rest, fluids, analgesia
school exclusion for 7 days
240
What virus causes measles?
RNA paramyxovirus - morbillivirus
241
How does measles present?
catarrhal stage 10-12 days after exposure: 4Cs - cough, cranky, coryza, conjunctivitis
koplik spots 2 days after fever - grey/white spots on buccal mucosa = pathognomonic
macular erythematous rash 3-5 days after fever starts - starts on face, classically behind ears, spreads down
242
What are the possible complications of measles?
1/3rd have a complication
pneumonia
diarrhoea, dehydration
encephalitis, meningitis
hearing/vision loss
243
What is the most common complication of measles?
otitis media
244
How is measles managed?
rest
isolation for 4 days from rash onset
notifiable disease
highly contagious
245
What virus causes rubella?
RNA paramyxovirus - rubivirus
246
What are the clinical features of rubella?
coryzal prodrome - mild fever, sore throat
milder pink macular erythematous rash than measles, starts on face and spreads to rest of body, lasts about 3 days
joint pain
lymphadenopathy - sub occipital/posterior auricular
247
How are the MMR diseases diagnosed?
clinically
saliva swab for igM as all are notifiable
248
How is rubella managed?
isolation for 5 days after rash appears
rest
249
Which group of people is rubella most dangerous in?
pregnant women
<13 wks transmission to fetus = 80% > TOP offered
>16 wks transmission = 25%, unlikely to cause defects
250
What is the congenital rubella triad?
sensorineural deafness
cardiac abnormalities
eye abnormalities eg cataracts
251
How does parvovirus B19/fifth disease/slapped cheek syndrome present?
coryzal prodrome, fever, muscle aches, lethargy
2-5 days later: sudden diffuse malar rash on cheeks
few days later: reticular (net-like) mildy erythematous rash on trunk and limbs, can be raised and itchy
= fade after 1-2wks
arthropathy
252
What are the possible complications of parvovirus B19?
at risk people: pregnant, immunocompromised, haematological conditions (thalassaemia, sickle cell, HS, haemolytic anaemia)
aplastic anaemia! (check FBC + reticulocytes in at risk people)
encephalitis/meningitis
pregnancy complications incl death, hydrops fetalis
253
What virus causes hand, foot and mouth disease?
coxsackie A
254
How does hand, foot and mouth disease present?
initially coryzal sx eg temp, cough, fatigue
after 1-2 days: small mouth + tongue ulcers, may be painful
followed by blistering red spots across body - most on hands, feet and around mouth, may be itchy
255
How is hand, foot and mouth disease managed?
rest, fluid, analgesia
highly contagious - avoid sharing towels/bedding etc
no school exclusion
256
Are most cases tonsilitis viral or bacterial?
viral
257
What is the most common bacterial causes of tonsilitis?
group A beta haemolytic strep - strep pyogenes
258
What is the centor criteria?
probability that tonsilitis is due to bacteria
score 3+: 40-60% probability of bacterial tonsilitis = offer abx
- fever >38
- tonsillar exudates
- absence of cough
- tender anterior cervical lymphadenopathy
259
What is the FeverPAIN score?
alternative to centor criteria
2-3 = 34-40% prob
4-5 = 62-65% prob
Fever during previous 24hrs
Purulence (pus on tonsils)
Attended within 3 days of onset of sx
Inflamed tonsils
No cough or coryza
260
When should abx be given to a pt with tonsilitis?
centor 3+ or feverpain 4+
young infant/immunocompromised/comorbidities/very unwell
hx of rheumatic fever
if feverpain 2-3: consider delayed abx and advise to use if sx don't improve in 3-5 days/if sx worsen
261
What is 1st line tx for bacterial tonsilitis?
pencillin V (phenoxymethylpenicillin) for 10 days
clarithromycin in penicillin allergy
DON'T give amox in case it is caused by infectious mononucleosis > causes rash
262
What are the complications of tonsilitis?
chronic tonsilitis
peritonsillar abscess (quinsy)
otitis media
scarlet or rheumatic fever
263
What is the cause of scarlet fever?
endotoxins released by group a beta haemolytic strep (strep pyogenes)
264
What are the clinical features of scarlet fever?
12-48hrs after sore throat onset: red/pink blotchy macular rash that feels like sandpaper, starts on the trunk and spreads out, red flushed cheeks, circumoral pallor
strawberry tongue (can be white also)
cervical lymphadenopathy
265
How is scarlet fever tx?
same as tonsilitis - phenoxymethylpencillin
266
What virus causes chickenpox?
varicella zoster
once they have an episode = develop immunity to VZV
267
How is the chickenpox rash described?
widespread erythematous raised vesicular (fluid filled) blistering lesions
starts on trunk/face and spreads outwards affecting whole body
lesions scab over eventually = stop being contagious
268
How is chickenpox transmitted?
highly contagious - stops being contagious when lesions scab over
direct contact with lesions/infected droplets from cough or sneeze
269
Why can chickenpox lead to shingles?
virus can lie dormant in sensory dorsal root gangion cells
CNs reactivate later in life as shingles or ramsay hunt syndrome
270
What happens to the fetus with chickenpox during pregnancy?
<28wks > developmental problems in a small number of fetuses (congenital varicella syndrome)
271
Why can chickenpox be worse during pregnancy?
more severe cases eg varicella pneumonitis, hepatitis, encephalitis
check IgG for VZV, offer vaccine
272
What happens to the neonate if the mother has chickenpox during delivery?
risk of life threatening neonatal infection - needs VZ Igs + aciclovir
273
What effects does congenital varicella syndrome have on the fetus?
when infection occurs <28wks:
FGR
microcephaly, hydrocephalus, LD
scars/sig skin changes in specific dermatomes
limb hypoplasia
cataracts, chorioretinitis
274
How is chickenpox managed?
usually mild and self limiting
acyclovir considered in immunocompromised/neonates
itching - calamine lotion/antihistamine
signs of infection - flucloxacillin
exclusion from school/avoid pregnant women until lesions are dry/crusted over - usually 5 days after rash onset
275
What are the possible complication of chickenpox?
bacterial superinfection
pneumonia
encephalitis
dehydration
conjunctival lesions
shingles/ramsey hunt later in life
276
What bacteria caused impetigo?
staph aureus
277
How does impetigo present?
pustules + blisters on an erythematous based
blisters leave brown GOLDEN CRUST when they burst - often around mouth
may be feverish/unwell
278
What is impetigo? What children does it happen in?
highly contagious superficial skin infection
peaks ages 2-5yrs
enters through break in skin - health skin or a/w eczema/dermatitis
279
How is impetigo managed?
1st line = topical hydrogen peroxide 1% or topical fusidic acid
severe/widespread > oral flucloxacillin
school exclusion until lesions have crusted over/48hrs+ after abx started
280
What are the causes of otitis externa?
bacterial - mostly pseudomonas aeruginosa /staph aureus
others: fungal (think if had multiple courses of topical abx), eczema, dermatitis
281
What are the RFs for otitis externa?
humidity
swimming
scratching from eczema/psoriasis
trauma to ear
ear wax = protective
282
What are the clinical features of otitis externa?
pain - pulling at ear
scaly skin
discharge
conductive hearing loss on affected side
283
What needs to be excluded before giving aminoglycosides to a pt with otitis externa?
eg neomycin, gentamicin
= ototoxic > can cause hearing loss if gets past TM > ensure TM is intact
284
What is a severe life-threatening complication of otitis externa?
malignant OE
progresses to bones surrounding ear > osteomyelitis of the temporal bone
usually linked to susceptibility to infection
headache, severe pain, fever
key finding = granulation tissue
> admission, IV abx, imaging
285
How is otitis externa treated?
mild: acetic acid 2% drops (anti fungal/bacterial)
moderate: topical abx + steroid eg neomycin, dexamethasone and acetic acid
severe/systemic sx: oral abx eg fluclox/discuss with ENT
Ear wick can be used if spray/drops difficult
if fungal: clotrimazole drops
286
What is the most common cause of otitis media?
strep pneumoniae
often preceded by viral URTI
287
How does otitis media present?
EAR PAIN
reduced hearing
coryzal sx/URTI signs
generally unwell
effect on vestibular system > balance issues, vertigo
discharge = RF for tympanic membrane rupture
288
How will a tympanic membrane appear normally and in otitis media?
normal: pearly grey translucent slightly shiny, malleus visible, cone of light reflecting light of otoscope
otitis media: bulging red inflamed membrane, discharge/hole in tympanic membrane if perforated
289
How is otitis media managed?
most resolve without abx
indications for immediate abx:
children <2yrs with bilateral otitis media
otorrhoea/perforated TM
in only hearing ear/cochlear implant
immunocompromised
could give delayed + safety net
give if >4 days sx
1st line = amoxicillin for 5-7 days (otherwise erythro/clarithromycin)
290
What are the potential complications of otitis media?
mastoiditis
TM perforation
intracranial abscess
291
What is glue ear/otitis media with effusion? WHy does it happen?
middle ear inflammation with collection of fluid behind TM
eustachian tube drains secretions from middle ear > if blocked fluid builds up there
292
What is the key sx of glue ear?
reduction in hearing
risk of otitis media
293
How does glue ear appear on otoscopy?
grey dull tympanic membrane with air bubbles/visible fluid level + loss of cone of light reflex
294
How is glue ear managed?
audiometry referral
usually conservative tx - most resolve without tx in 3mo
otovent - symptomatic relief to help open/clear eustachian tube
consider grommets/hearing aids if >3mo/co-morbidities
295
What are the possible causes/RFs for glue ear?
eustachian tube dysfunction - shorter/more horizontal tubes
URTI > adenoid hypertrophy which blocks eustachian tube
increased risk: Down's, cleft palate
296
What is transient synovitis?
aka irritable hip
transient irritation and inflammation in the synovial membrane of the joint
297
What is the most common cause of hip pain in 3-10yr olds?
transient synovitis
298
How does transient synovitis present?
recent viral URTI
acute or gradual onset of:
- limp
- refusal to weight bear
- groin/hip pain - mostly on movement, may improve throughout the day
- mild low grade temp
otherwise well - normal signs, no systemic illness
299
Joint pain + fever is a red flag for what?
septic arthritis
300
How is transient synovitis managed?
analgesia
safety net advice if they develop a fever
follow up
301
What is the prognosis of transient synovitis?
sig improvement after 48hrs
should resolve within 1-2 wks with no lasting problems
may recur
302
What is perthe's disease?
disruption of blood flow to femoral head > avascular necrosis of the bone affecting the epiphysis
303
Which children does Perthe's disease occur in?
4-12ys, mostly between 5 and 8yrs
more common in boys
idiopathic
304
How does Perthe's resolve? What are the consequences of this?
re/neovascularisation and healing in the femoral head over time > remodelling of bone
leads to a soft deformed femoral head > early hip OA > may need artificial hip replacement
305
How does perthe's present?
slow onset of:
- pain in hip/groin
- limp
- restricted hip movement
- possibly referred pain to knee
- late sign = leg length discrepancy
no hx of trauma
306
How is perthe's investigated?
XR - can be normal
joint space widening/irregularity
crescent sign = late
307
How is perthe's managed?
bed rest, traction, crutches, analgesia - to maintain healthy position/alignment + reduce risk of deformity
physio
regular XR to assess healing
surgery in severe cases/older children/not healing
308
What is SUFE/SCFE?
slipped upper/capital femoral epiphysis
head of the femur is displaced along the growth plate
309
Which children do SCFE happen in?
more common in boys + obese children
8-15yrs
310
How does SCFE present?
typical: adolescent obese male undergoing a growth spurt
possible hx of minor trauma - suspect if pain is disproportionate to severity of trauma
hip/groin/thigh/knee pain
restricted range of hip movement
painful limp
311
On examination, how does SCFE present?
pt prefers to keep hip in external rotation - +ve Drehmann's sign
limited movement of hip
restricted internal rotation
312
How is SCFE investigated?
XR = diagnostic
313
How is SCFE managed?
surgery - return the femoral head to correct position + fix in place
314
Which children is septic arthritis most common in?
<4yrs
joint replacement
315
How does septic arthritis present?
affects a single join - knee/hip usually
rapid onset of:
- hot red swollen painful joint
- refusing to weight bear
- stiffness/reduced range of motion, pseuoparesis
- systemic sx - fever, lethargy
can be subtle in young children
look for scratches/infected chickenpox
316
What is the most common causative organism of septic arthritis?
staph aureus
317
What are the DDx of a child presenting with joint pain?
transient synovitis - no systemic illness, pain mostly on movement, after illness, quick improvement
perthe's disease - boys, limp, no hx of trauma
SCFE - minor trauma hx, obese adolescent male, restricted movement - likes hip to be in external rotation
JIA -
318
How should septic arthritis be investigated?
low threshold for tx - esp in immunocompromised
+ admission
aspirate joint prior to abx if possible
blood cultures, CRP
319
How should septic arthritis be managed?
empirical IV abx until sensitivities are known
abx continued for 3-6wks after confirmation
may require surgical drainage + washout of the joint (debridement)
320
What is osteomyelitis?
infection in bone/bone marrow
usually in metaphysis of long bones
321
What is the most common causative organism of osteomyelitis?
staph aureus
322
How does acute versus chronic osteomyelitis present?
acute - rapid onset, acutely unwell child
chronic - deep seated slow growing infection with slowly developing sx
323
What are the possible routes of infection in osteomyelitis?
directly into the bone eg open fracture
through the blood
through another route eg skin, gums
324
What are the RFs for osteomyelitis?
boys, < 10yrs
open fracture
orthopaedic surgery
immunocompromised, sickle cell, HIV, TB
325
How does osteomyelitis present?
refusing to use limb/weight bear
pain
swelling
tenderness
afebrile/low grade fever
acute may have high fever - esp if it spreads to the joints = septic arthritis
326
How is osteomyelitis investigated?
XR - can normal
best = MRI
bloods - raised CRP/ESR/WBCs
blood cultures
bone marrow aspiration/bone biopsy with histology + culture
327
How is osteomyelitis managed?
prolonged abx therapy
may need surgery for drainage + debridement
328
What is Osgood-Schlatter disease?
inflammation at the tibial tuberosity where the patella ligament inserts
329
Which children does Osgood-Schlatter disease occur in?
males aged 10-15yrs
sporty boys
330
First differential: anterior knee pain in a male adolescent
osgood-schlatter
331
What is the pathophysiology of Osgood-Schlatter disease?
stress from running/jumping + growth in epiphyseal plate = inflammation on tibial epiphyseal plate
+
multiple avulsion fractures where ligament pulls away tiny pieces of bone
= growth of tibial tuberosity > lump below the knee
332
How does Osgood-Schlatter disease present?
gradual onset:
visible/palpable hard and tender lump at tibial tuberosity (initially tender > becomes hard and non-tender)
pain in anterior aspect of knee exacerbated by physical activity/kneeling/extension of knee
333
How is Osgood-Schlatter disease managed?
reduction in physical activity
ice
NSAIDS
stretching/physio once sx settle (usually left with hard boney lump on knee)
334
When is DDH likely to be identified?
NIPE
or later with hip asymmetry + reduced range of movement
335
What sx may an adult have with DDH that has persisted?
weakness
recurrent subluxation/dislocation
abnormal gait
early degenerative changes
336
What are the RFs for DDH?
1st degree FHx
breech
multiple pregnancy
337
What are signs in a NIPE that a baby has DDH?
different leg lengths
restricted hip abduction
sig bilateral restriction in abduction
difference in knee level when hips are flexed
clunking of hips on special test
338
What are the 2 special tests for DDH?
ortolani: baby on back with hip + knees flexed > palms on baby's knees with thumbs on inner thigh and fingers on outer thigh > gentle pressure to abduct hips + apply pressure behind legs to see if hips dislocate anteriorly
barlow: baby on back with hips abducted and hip and knees flexed at 90 degrees > gentle downward pressure on knees through femur to see if femoral head dislocates posteriorly
339
What are positive findings for DDH in the 2 special tests? versus a common finding?
clicking common
clunking indicates DDH = needs US
340
How is DDH diagnosed?
US
XR can be helpful, esp in older children
341
How is DDH managed?
<6mo: Pavlik harness - fitted and kept on for about 2mo, hold femoral head in correct position to allow hip socket to establish a normal shape
harness failed/>6mo: surgery, then hip spica cast to immobilise hip
342
What is JIA?
AI inflammation of the joints in children
343
What are the 3 requirements for a diagnosis of JIA? And the 3 key features?
arthritis without any other cause
lasts >6wks
in a pt <16yrs
joint pain, swelling + stiffness
344
What are the 5 key subtypes of JIA?
systemic
polyarticular
oligoarticular
enthesitis related arthritis
juvenile psoriatic arthritis
345
What are the features of systemic JIA?
subtle SALMON-PINK rash
joint inflammation + pain
muscle pain
systemic illness - high swinging fevers, enlarged lymph nodes, weight loss
splenomegaly
pleuritis, pericarditis
346
What serology is systemic JIA a/w?
antinuclear abs + RFs neg
raised CRP + ESR, platelets and serum ferritin
347
What is a key complication of systemic JIA? How does it present?
macrophage activation syndrome
= severe activation of immune system with huge inflammatory response - life-threatening
acutely unwell child with DIC, anaemia, thrombocytopenia, bleeding, non-blanching rash
LOW ESR
348
What are the differentials for children with a fever for >5 days?
Kawasaki's disease
Still's disease (systemic JIA)
rheumatic fever
leukaemia
349
What is polyarticular JIA?
idopathic inflammatory arthritis in 5+ joints
350
What is the classic presentation of polyarticular JIA?
symmetrical
affects small joints of hands and feet + large joints
minimal systemic sx - may be mild fever, anaemia, reduced growth (always mild unlike systemic JIA)
351
What serology is a/w polyarticular JIA?
equivalent of RA in adults
most are sero -ve > neg for RF
sero +ve if +ve for RF - tend to be older/have disease more similar to RA in adults
352
What is oligoarticular JIA?
involves 4 joints or less
353
How does oligoarticular JIA present?
usually affects a single larger joint (usually knee, ankle)
more often in girls <6yrs
no systemic sx
354
What condition is oligoarticular arthritis a/w?
anterior uveitis
- referral to opthalmology
355
What serology is a/w oligoarticular JIA?
inflammatory markers normal/mildly elevated
antinuclear abs often +ve
RF usually neg
356
What is enthesitis-related arthritis?
paeds version of sero neg spondyloarthropathy conditions eg ankylosing spondylitis, psoriatic + reactive arthritis, IBD related arthritis
inflammatory arthritis.in joints + enthesitis
357
What is enthesitis?
inflammation at the point which. atendon of. amuscle inserts into a bone
358
What can cause enthesitis? Which children are more at risk of enthesitis-related arthritis?
traumatic stress eg repetitive strain in sort
AI inflammatory process
more common in boys >6yrs
359
What is the diagnostic imaging modality for enthesitis-related arthritis?
MRI can demonstrate enthesitis
but not if it is AI or not
360
What gene is a/w enthesitis-related arthritis?
HLA B27
361
What conditions and their sx are a/w enthesitis-related arthritis?
psoriasis - psoriatic plaques, nail pitting
IBD - intermittent diarrhoea, rectal bleeding
anterior uveitis
362
How will enthesitis present? Where are the key areas it occurs?
tender to localised palpation
IPJ of hand
wrist
greater trochanter of lateral hip
quadriceps insertion at ASIS
quadriceps/patella tendon insertion on patella
base of achilles
metatarsal heads on base of foot
363
What is juvenile psoriatic arthritis?
sero -ve inflammatory arthritis a/w psoriasis
364
What is the pattern of join involvement in juvenile psoriatic arthritis?
varies
can be a/symmetrical in several/few small or large joints
365
What signs are likely to be seen in a child with juvenile psoriatic arthritis?
plaques of psoriasis
nail pitting
onycholysis - separation of nail from bed
dactylitis - inflammation of the full finger
enthesitis
366
How is JIA managed?
paed rheumatology team
depends on severity/response:
- NSAIDS
- steroids - oral, IM, intra-articular in oligoarthritis
- DMARDS eg methotrexate, sulfasalazine
- biologic therapy eg TNFi - etanercept, infliximab, adalimumab
367
How does the foetal heart work in utero?
R side has higher pressure
blood shunt from RA > LA through foramen ovale
so most blood bypasses the lungs
1st breath: pulmonary blood flow increases > decrease in RA pressure + increases in LA pressure > foramen ovale closes
368
What medication if taken during pregnancy is a/w congenital heart defects?
warfarin
369
What is the GS imaging modality of structural congenital heart abnormalities?
echo
370
What are the 5 causes of cyanotic heart defects?
tetralogy of fallot
transposition of thegreat vessels
tricuspid atresia
truncus arteriousus
complete AVSD
371
How to distinguish between a cardiac and resp cause fo cyanosis?
hypoxic test - give them O2
improvement = resp, no improvement = cardiac
372
What is the pathophysiology of a cyanotic congenital heart disease?
R>L shunt - deoxygenated blood returning form body enters L side and goes into the systemic circulation without travelling through the lungs to get oxygenated
373
What are the 4 pathological features of tetralogy of fallot?
large VSD
overriding aorta
pulmonary valve stenosis
RV hypertrophy
374
What is an overriding aorta?
aortic valve further to the right, above the VSD in ToF
RV contracts + sends blood up > aorta is in the path of that blood (all should go to pulmonary artery) > greater proportion of deoxygenated blood enters the aorta from the RS
375
What features of ToF lead to cyanosis?
overriding aorta + pulmonary stenosis (high resistance to flow from RV > encourages blood through VSD into aorta)
encourage shunting of blood from R to L = cyanosis
degreee of cyanosis dependant on severity of pulmonary stenosis
376
What are the RFs for ToF?
rubella
increased maternal age
alcohol during pregnancy
diabetic mother
377
How does ToF present on CXR?
boot shaped heart due to RV thickening
378
When is ToF likely to be identified?
antenatal scans
if not: ejection systolic murmur due to PS during the NIPE
if not: signs of HF as they get older
379
What are the S&S of ToF?
CYANOSIS
clubbing
poor feeding and weight gain
ejection systolic murmur over pulmonary valve
tet spells
380
What is a tet spell in ToF? What can cause them? How do they present
intermittent symptomatic periods where R > L shunt is temporarily worse
when pulmonary vascular resistance increases/systemic resistance decreases (eg exercise + CO2 increases > vasodilator > systemic resistance decreases > path of least resistance = RV > aorta)
precipitated by waking, exercise, crying
irritable, cyanotic, SoB
can lead to reduced consciousness, seizures, death
381
How are tet spells treated?
children may squat/bring knees to chest
supplementary O2
beta blockers (relax RV > improve flow. topulmonary vessels)
IV fluids
morphine
NaHCO3
phenylephrine infusion
382
How are tet spells treated?
children may squat/bring knees to chest
supplementary O2
beta blockers (relax RV > improve flow to pulmonary vessels)
IV fluids (increase pre-load > increase vol of blood to pulmonary vessels)
morphine (decrease resp drive > more effective breathing)
NaHCO3 (buffer met acidosis)
phenylephrine infusion (increases systemic vascular resistance)
383
How is ToF managed?
prostaglandin infusion in neonates - maintains DA so blood can flow from aorta back to pulmonary arteries
definitive: repair in open heart surgery
384
What is transposition of the great arteries?
attachments of the aorta + pulmonary trunk are swapped
RV pumps blood into aorta, LV pumps into the pulmonary vessels
2 separate circulations: systemic and R side, pulmonary and L side
385
TotGA is often a/w with which conditions?
VSD
coarctation of the aorta
pulmonary stenosis
386
When does TotGA become life-threatening for a baby?
normal development in-utero due to bypassing of lungs
at birth: immediately life-threatening as there is no connection between systemic + pulmonary circulation
= cyanosed
387
How is survival ensured at birth in a baby with TotGA?
needs a shunt between systemic and pulmonary circulation so blood can be oxygenated at the lungs
can occur across a patent DA, ASD or VSD
388
How will a baby with TotGA present at birth if not diagnosed antenatally?
cyanosed at or within a few days of birth
patent DA or VSD can initially compensate by allowing blood to mix but within a few weeks > resp distress, tachy, poor feeding/weight gain, sweating
389
How is TofGA managed?
ASD/VSD delays need for tx
prostaglandin to maintain ductus arteriosus
balloon septostomy - catheter into foramen ovale through umbilicus > inflate balloon to create large ASD
definitive: open heart surgery (cardiopulmonary bypass used to do arterial switch)
390
What is truncus arteriosus?
primitive truncus doesn't divide into pulmonary artery + aorta in development > one blood vessel comes out of. theheart
391
What condition is complete AVSD a/w?
Down's - all need echo at birth
392
What are the non-cyanotic congenital heart defects?
VSD
ASD
PDA
L>R shunts
393
How do non-cyanotic heat defects generally present at birth?
breathless or asymptomatic
heart murmur
poor feeding, dyspnoea, tachypnoea, failure to thrive
394
Which direction is blood shunted in ASD? What are the consequences of this?
L>R as pressure in L is higher
blood flows to pulmonary vessels/lungs to get oxygenated BUT increased flow to R side > R sided overload + strain > risk of R HF + pulmonary HTN
395
What are the possible complications of an ASD?
stroke due to VTE
AF/atrial flutter
pulmonary HTN + R HF
eisenmenger
396
What asymptomatic heart condition may be present if a patient has a DVT and then large stroke?
ASD
usually DVT > PE
with ASD: clot can go from RA > LA > aorta > brain > large stroke
397
What heart sounds does a child with ASD present with?
mid-systolic crescendo-decrescendo murmur loudest at upper L sternal border
fixed split 2nd HS that doesn't vary with respiration
398
How does ASD present as a child and adult?
may be asymptomatic as a child
may have: SoB, difficulty feeding, poor weight gain, LRTIs
or present in adulthood with dyspnoea, HF, stroke
399
How is ASD managed?
W&W if small + asymptomatic
surgical correction
anticoag eg aspirin, warfarin to reduce risk of clots/strokes. inadults
400
What is eisenmenger syndrome? What happens. tothe direction of the shunt?
pt has a septal defect with L>R shunt (pressure is higher on L = blood still gets oxygenated by the lungs = non-cyanotic)
over time: the extra blood flowing into the R side + lungs increases pressure in pulmonary vessels > pulmonary HTN
when pulmonary pressure > systemic pressure = R>L shunt > deoxygenated blood bypasses lungs to body = CYANOSIS
401
What 3 heart lesions can cause eisenmenger syndrome?
ASD
VSD
PDA
402
When in life will eisenmenger develop?
1-2yrs with large shunt
in adulthood with small shunts
can develop quickly. inpregnancy
403
How does the bone marrow respond to low ox sats?
more rbcs + Hb to increase O2 carrying capacity > polycythaemia (high conc of Hb)
= gives pt a plethoric complexion
+ makes blood more viscous > increases clot risk
404
What examination findings are a/w eisenmenger?
pulmonary HTN:
R ventricular heave (RV contracts forcefully against pressure in lungs)
loud P2 (forceful shutting of pulmonary valve)
raised JVP
peripheral oedema
murmur a/w whichever septal defect
R>L shunt/chronic hypoxia:
cyanosis
clubbing
dyspnoea
plethoric complexion (red due to polycythaemia)
405
What are the main causes of death in eisenmenger syndrome?
HF
infection
thromboembolism
haemorrhage
406
How is eisenmenger managed?
correct underlying defect
once pulmonary pressure high enough to cause syndrome it can't be medically reversed > definitive = heart-lung transplant
medical mx: O2, sildenafil for pulmonary HTN, tx arrhythmia/polycythaemia = venesection/thrombosis = anticoag/IE = prophylactic abx
407
What genetic conditions is VSD a/w?
down's
turner's
408
Why are children with VSD acyanotic?
increased pressure in LV = L>R shunt > blood still flows through lungs to be oxygenated
leads to R side overloads/HF + increased flow into pulmonary vessels > pulmonary HTN/eisenmenger
409
What murmur is a/w VSD?
pan-systolic murmur loudest at L lower sternal border in 3rd/4th ICS
systolic thrill on palpation
410
What are the 3 causes of a pan systolic murmur?
VSD (L lower sternal border)
mitral regurg
tricuspid regurg
411
How is VSD managed?
W&W if small and asymptomatic
corrected surgically
increased risk of IE > abx prophylaxis
412
When does the ductus arteriosus usually close? Where is it situated?
stops functioning within 1-3 days, closes completely within 2-3wks
failure to close = PDA
connection between aorta and pulmonary artery
413
What are the RFs for PDA?
PREMATURITY
may be genetic
maternal infections eg rubella
414
Does PDA present in child or adulthood?
can be asymptomatic if small - cause no problems and close spontaneously
can present in adulthood with signs of HF
415
Which direction is the shunt in PDA?
L>R
pressure higher in aorta than pulmonary artery > L>R shunt > pulmonary HTN > R sided strain > RV hypertrophy > increased flow through pulmonary vessels and returning to L side > LV hypertrophy
416
What murmur is a/w PDA?
small one may have none
continuous crescendo-descrendo machinery murmur that continues during the 2nd heart sound making it difficult to hear
loudest beneath L clavicle
417
How is PDA managed?
monitored until 1yr
unlikely to close spontaneously after this > surgical/trans-catheter closure
tx earlier if symptomatic
418
What are the features of an innocent murmur?
soft
short
systolic
symptomless
situation dependant eg when unwell, quieter standing
419
What are the red flag features of a murmur?
loud
diastolic
louder on standing
other sx eg failure. tothrive, feeding difficulty, cyanosis, SoB
420
What are the 3 key ivx to investigate a murmur?
ECG
CXR
echo
421
What are the 3 differentials of an ejection systolic murmur?
aortic stenosis
pulmonary stenosis
hypertrophic obstructive cardiomyopathy (4th ICS on L sternal border)
422
What is a split 2nd heart sound? When is it pathological?
pulmonary valve closes slightly after aortic valve
inspiration: lungs pulled open by chest wall + diaphragm > heart opens = -ve intrathoracic pressure > r side of heart fils faster as it pulls blood from venous system > increased vol in RV = longer for RV to empty in systole > delay in pulmonary valve closing
ie it is normal with inspiration
fixed split sound is the same with insp + exp = occurs in ASD
423
Where are the 4 heart valves located?
aortic: 2nd ICS R sternal border
pulmonary: 2nd ICS L sternal border
tricuspid: 5th ICS L sternal border
mitral: 5th ICS mid clavicular line (apex)
424
What is coarctation of the aorta?
narrowing of the aortic arch, usually just post-DA
severity varies
425
Which genetic condition is coarctation of the aorta especially a/w?
Turner's
426
Where is pressure increased and decreased in coarctation of the aorta?
reduces pressure distal to narrowing
increases pressure proximal to it eg heart, first 3 branches of aorta
427
What are the S&S of coarctation of the aorta?
weak femoral pulses = often only neonatal indication
systolic murmur below L clavicle + scapula
tachypnoea, inceased work of breathing
poor feeding
grey floppy baby
over time:
LV heave due to hypertrophy
underdeveloped L arm (reduced flow to L subclavian) + both legs
428
Coarctation of the aorta will impact a 4 limb BP in what way?
high BP in limbs supplied by arteries before narrowing
low BP in limbs after narrowing
429
How is coarctation of the aorta managed?
mild - may be sx free
severe - may need emergency surgery after birth
emergency:
prostaglandin E keeps DA open while waiting for surgery
corrective surgery + ligation of DA
430
How does aortic valve stenosis present?
can be asymptomatic
fatigue
SoB
dizziness, fainting
WORSE ON EXERTION (outflow from LV can't keep up with demand)
severe: HF
431
What is the murmur a/w aortic stenosis? What other signs are present?
ejection systolic murmur at 2nd ICS R sternal border
crescendo-decrescendo
radiates to carotids
ejection click just before murmur
palpable systolic thrill
slow rising pulse + narrow PP
432
How is aortic stenosis managed?
regular monitoring (progressive condition) with echos, ECGs, exercise testing
may need to restrict exercise
percutaneous balloon aortic valvoplasty/surgical valvotomy/valve replacement
433
What are the complications of aortic valve stenosis?
LV outflow tract obstruction
HF
ventricular arrhythmia
bacterial endocarditis
sudden death, often on exertion
434
Which conditions is pulmonary valve stenosis a/w?
ToF
William syndrome
Noonan syndrome
congenital rubella
435
How may pulmonary valve stenosis present?
often asymptomatic
severe: fatigue on exertion, SoB, dizziness, fainting
436
What are the heart sounds a/w pulmonary valve stenosis?
ejection systolic murmur at the 2nd ICS L sternal border
palpable thrill in same place
RV heave (hypertropy)
raised JVP with giant a waves
437
How is pulmonary valve stenosis managed?
W&W often
balloon valvuloplasty
2nd line = open heart surgery
438
What is the most common cause of L sided HF in children?
large VSD
439
What are the signs of L versus R HF?
L:
SoB, exercise intolerance
palpitations, chest pain
feeding problems, poor/excessive weight gain
R:
peripheral oedema
liver enlargement
440
What is rheumatic fever?
AI condition triggered by streptococcus bacteria
Multi-system disorder affecting joints, heart, skin, nervous system
441
What is the pathophysiology of rheumatic fever? What type of hypersensitivity reaction is it?
group A beta haemolytic streptococcal (often strep pyogenes that causes tonsilitis)
immune system creates abs against infection > also match antigens on cells of body
= type 2 hypersensitivity reaction around 2-4wks after initial infection
442
How does rheumatic fever present?
2-4wks after a streptococcal infection eg tonsilitis
joints: migratory arthritis affecting large joints, red hot swollen painful joints
heart: carditis with pericarditis/myocarditis/endocarditis > tachy or bradycardia, murmurs from valve disease, pericardial rub on ausc, HF
skin: subcut nodules (firm painless nodules on extensor surfaces of joints), erythema marginatum rash (pink rings of varying sizes on torso and proximal limbs
nervous system: chorea (uncontrolled irregular rapid movements of limbs)
443
How is rheumatic fever investigated?
throat swab
anti-streptococcal Ab titres
echo, ECG, CXR for heart involvement
444
Which criteria is used to dx rheumatic fever?
Jones
445
What are the components of Jones criteria?
evidence of recent streptococcal infection +
2 major OR 1 major and 2 minor - JONES-FEAR
major:
Joint arthritis
Organ inflammation eg carditis
Nodules
Erythema marginatum rash
Sydenham chorea
minor:
Fever
ECG changes (prolonged PR) without carditis
Arthralgia without arthritis
Raised inflam markers
446
How is rheumatic fever treated?
tx of strep infection helps prevention - phenoxymethylpencillin for tonsilitis
NSAIDS
aspirin + steroids for carditis
prophylactic abx to prevent recurrence/further strep infections
447
What are the complications of rheumatic fever?
recurrence
valvular disease, mostly mitral stenosis
chronic HF
448
What is Kawasaki disease?
systemic medium-sized vessel vasculitis
449
Which children is Kawasaki disease more likely to occur in?
<5yrs
Asian children, particularly Japanese and Korean
450
What are the key features of Kawasaki?
persistent high fever (>39) for >5 DAYS
widespread erythematous maculopapular rash + desquamation on palms and soles
STRAWBERRY TONGUE
cracked lips
cervical lympadenopathy
bilateral conjunctivits
any fever >5 days think kawasaki !!
451
What ix are useful to identify Kawasaki?
FBC (anaemia, leukocytosis, thrombocytosis)
LFTs (hypoalbuminaemia, elevated liver enzymes)
inflam markers (esp ESR) raised
urinalysis (raised WBCs without infection)
echo (coronary artery pathology)
452
What are the 3 phase of kawasaki?
acute: unwell with fever, rash + lymphadenopathy, lasts 1-2wks
subacute: acute sx settle, desquamation + arthralgia occur, risk of coronary artery aneurysm, lasts 2-4wks
convalescent: remaining sx settle, bloods return to normal, cornoary aneursysm may regress, lasts 2-4wks
453
How is Kawasaki treated 1st line?
high dose aspirin (tx thrombosis risk)
+ IV IGs (reduce coronary artery aneurysm risk)
454
What is the key concerning complciation of Kawasaki?
coronary artery aneurysm
455
What is the condition where aspirin is unusually used in children? Why is aspirin dangerous in children?
Kawasaki
risk of Reye's syndrome > serious liver + brain damage
456
Describe normal development of gross motor skills at 4m-4yrs
4m: support head in line with body
6m: started sitting, not unsupported
9m: sit unsupported, crawling, maintain standing position, bounce on legs when supported
12m: stand, cruising
15m: walk unaided
18m: squat and pick things up
2yr: run, kick ball
3yr: climb stairs one foot at a time, stand on one leg for few secs, ride tricycle
4yr: hop, climb and descend stairs normally
457
Describe normal development of fine motor skills at 8wks-5yr
8wk: fixes eyes on object 30cm in front and attempts to follow, show preferences for faces over inanimate objects
6m: palmar grasp (wraps thumb and fingers around object)
9m: scissor grasp (squashes between thumb and forefinger)
12m: pincer grasp, scribbles randomly
14m: tower of 2 bricks
18m: clumsily use spoon to eat, tower of 4 bricks
2yr: copies vertical line, tower of 8 bricks, starts to hold pencil with digital pronate grasp rather than first
2.5yr: copies horizontal line, tower of 12 bricks
3yr: copies circle, thread beads onto string
4yr: copies cross an square, can build steps with bricks, cut paper in half with scissors
5yr: copies triangle
458
Describe normal development of language at 3m-4yrs
3m: cooing, recognises familiar voices and gets comfort from them
6m: noises with consonants, responds to tone of voice
9m: babbles but no recognisable words
12m: singles words in context, follows simple instructions
18M; 5-10 words, understands nouns
2yrs: combines 2 words, 50+ words total, understands verbs
2.5yrs: combines 3-4 words, understands propositions
3yrs: basic sentences, understands adjectives eg which is bigger
4yrs: tells stories, follows complex instructions
459
Describe normal development of personal/social skills at 6wk-4yrs
6wk: smiles
3m: communicates pleasure
6mo: curious, engages with people
9m: cautious with strangers
12m: engage with people by pointing and handling objects, waves bye, claps hands
18m: imitates activities eg using phone
2yr: interest to people other than parents -waves to strangers, plays next to to other children not necessarily with, dry by day
3yr: seek other children to play with, bowel control
4yr: has best friend, dry by night, dresses self, imaginative play
460
When are missed developmental milestones red flags?
not able to hold object at 5mo
not sitting unsupported by 12m
not standing independently, no words, no interest in others by 18m
not walking independently at 2yr
not running at 2.5yr
461
Which neonates are likely to develop RDS?
born <32wks - before lungs have produced adequate surfactant
462
How may RDS be prevented in babies with suspected/confirmed premature labour?
antenatal steroids - increase production of surfactant
463
What are the short term complications of RDS?
pneumothorax
infection
apnoea
intraventricular/pulmonary haemorrhage
NEC
464
What are the long term complications of RDS?
chronic lung disease of prematurity
retinopathy of prematurity
neurological, hearing and visual impairment
465
Extended hypoxia during birth can lead to what? Why can extended hypoxia happen?
contractions > placenta unable to carry out normal gaseous exchange > hypoxia
extended hypoxia > anaerobic resp + bradycardia + reduced consciousness + drop in resp effort
> hypoxic-ischaemic encepthalopathy
can lead to cerebral palsy
466
What are the key principles of neonatal resuscitation?
1. warm/dry baby
2. calculate APGAR score at 1, 5 and 10 mins
3. stimulate breathing - dry vigorously, head in neutral position to open airway, check for airway obstruction, consider aspiration under direct visualisation
4. inflation breaths: neonate gasping/not breathing despite stimulation
a. 2x 5 inflation breaths of 3 seconds
b. 30s ventilation breaths
c. chest compressions with ventilation breaths (if HR <60, 3:1 with ventilation breaths)
5. consider IV drugs and intubation. near/term babies with possible HIE, consider therapeutic cooling.
467
In inflation breaths during neonatal resuscitation, should air or air + O2 be used?
air in term/near term
mix in pre-term
468
What are the 5 components of the APGAR score used in neonatal resuscitation?
appearance (skin colour)
pulse
grimmace (response to stimulation)
activity (muscle tone)
respiration
469
Why is delayed umbilical cord clamping used? What are the pros and cons? Which neonates is it used in?
large vol of fetal blood in placenta after birth > delayed clamping = time for blood to enter baby's circulation (placental transfusion)
+ improved Hb, iron stores, BP, reduced intraventricular haemorrhage and NEC
- increases neonatal jaundice
all uncompromised neonates = delay of 1 min
neonates requiring resus = no delay to prevent delay in resus
470
Facial paralysis after birth is a/w with what type of delivery? Is this permanent damage?
forceps - damage to facial nerve
function usually returns in a few mo
471
Which nerves are damaged during birth in neonates with Erbs palsy? What births is it a/w?
C5/6 nerves in brachial plexus
a/w shoulder dystocia, traumatic/instrumental delivery/large birth weight, fractured clavicle
472
How does Erb's palsy present at birth?
weakness of shoulder abduction + external rotation, arm flexion + finger extension
waiters tip appearance in affected arm: internally rotated shoulder, extended elbow, flexed wrist facing backwards, lack of movement
function usually returns in a few mo
473
Which births are at higher risk of a fractured clavicle?
shoulder dystocia
traumatic/instrumental delivery
large birth weight
474
Which causative organism of neonatal sepsis can be transferred from mother to fetus during delivery? How can this be prevented?
group B strep
commonly found in vagina
prophylactic abx given during labour to reduce risk of transfer if mother found to have bacteria
475
What are the RFs for neonatal sepsis?
vaginal group B strep colonisation
GBS sepsis in previous baby
maternal sepsis, chorioamnionitis, fever >38
prematurity
PROM
prolonged ROM
476
What are the clinical featrues of neonatal sepsis?
fever
reduced tone/activity
poor feeding
resp distress/apnoea
vomiting
tachy/bradycardia
hypoxia
jaundice within 24hrs
seizures
hypoglycaemia
have low threshold for tx
477
What investigations should be done when neonatal sepsis is suspected?
blood cultures before abx given
baseline FBC + CRP
LP
478
Whata re the 1st line abx for neonatal sepsis?
benzylpencillin and gentamycin
lower risk - cefotaxime
479
How is neonatal sepsis managed after abx are given?
CRP at 24hrs + 5days
blood cultures at 36hrs
LP if CRP >10
consider stopping abx if clinicall well/cultures neg/CRP <10
480
What are possible causes of HIE in neonates?
anything that causes asphyxia
maternal shock
intrapartum haemorrhage
prolapsed/nuchal cord
481
Babies with what clinical features should be suspecetd of having HIE?
events that could cause hypoxia
acidosis on umbilical artery blood gas
poor Apgar
features of HIE - poor feeding, irritability, hyper-alert, lethargic, hypotonia, seizures, reduced consciousness, apnoea, flaccid/reduced/absent reflexes
evidence of multi-organ failure
482
How is HIE managed?
supportive care - resus + ventilation, circulatory support, nutrition, acid base balance, tx of seizures
therapeutic cooling - can protect brain from hypoxic injury
ongoing assessment of development
483
What is therapeutic cooling?
cool to 33-34 degrees with cooling blankets for 72hrs
reduces inflammation and neurone loss after acute hypoxic injury
reduces risk of CP< developmental delay, LD, blindness, death
484
When is a baby considered preterm? When is extreme and very preterm? Which babies are likely to have the worst outcome?
<28wks = extreme
28-32 = very
32-37 = mod-late preterm
<500g/24wks = v poor outcome
dramatic improvement in prognosis with each extra week
485
What are RFs for prematurity?
social deprivation
smoking/alcohol/drugs
over/underweight mother
maternal co-morbidities
twins
personal/fhx of prematurity
486
What are 2 options used to delay preterm birth? Who are they used in?
women with hx of preterm birth/US showing cervical length <25mm before 24wks
1. vaginal progesterone - suppository in vagina to discourage labour
2. cervical cerclage - suture in cervix to hold it closed
487
When preterm labour is suspected/confirmed, what interventions can be done to improve outcomes?
tocolysis with nifedipine - CCB suppresses labour
maternal corticosteroids (if <35ws to reduce morbidity/mortality)
IV MgSO4 (if <24wks, protect brain)
delayed cord clamping/cord milking
488
What issues can premature noenates have in early life?
RDS
hypothermia
hypoglycaemia
poor feeding
apnoea, bradycardia
neonatal jaundice
intraventricular haemorrhage
retinopathy of prematurity
NEC
immature immune system
489
What long-term issues can premature neonates have?
chronic lung disease of prematurity
learning/behaviour difficulties
susceptibility to infections
hearing/visual impairment cerebral palsy
490
Why do normal Hb ranges vary significantly in early life?
transition from fetal to adult Hb in 1st 6m
child adapts to taking O2 from air rather than placenta
491
What are the causes of anaemia in infants? Which is the most common?
physiologic anaemia of infancy = most common
anaemia of prematurity
blood loss
haemolysis = common > haemolytic disease of the newborn (ABO/rhesus incompatibility), hereditary spherocytosis, G6PD deficiency
twin twin transfusion
492
What is physiologic anaemia of infancy? Why does it happen?
normal dip in Hb around 6-9wks in ehalthy term babies
high O2 to tissues due to high Hb at birth > -ve feedback > EPO fro kidneys suppressed > reduced Hb production by bone marrow
493
Why are premature babies more prone to anaemia?
less time in utero receiving Fe from mother
rbc creation cannot keep up with rapid growth in 1st few weeks
reduced EPO levels
blood tests remove sig portion of circulating volume
494
What are the causes of anaemia in older children? Which is most common?
IDA 2ndary to dietary insufficiency = most common
blood loss (most commonly from menstruation, worldwide - helminth infection)
others eg sickle cell, thalassaemia, leukaemia, hereditary spherocytosis
495
What are the causes of microcytic anaemia?
TAILS:
Thalassaemia
Anaemia of chronic disease
IDA
Lead poisoning
Sideroblastic anaemia
496
What are the causes of normocytic anaemia?
Acute blood loss
Anaemia of chronic disease
Aplastic anaemia
Haemolytic anaemia
Hypothyroidism
497
What are the causes of megaloblastic and normoblastic macrocytic anaemia?
megaloblastic (impaired DNA synthesis > does not divide normally > large abnormal cell):
- B12 or folate def
normoblastic:
- alcohol
reticulocytosis (due to haemolytic anaemia/blood loss)
hypothyroidism
liver disease
drugs eg azathioprine
498
What does anaemia + high recticulocytes indicate?
active production of rbcs to replace lost cells > anaemia due to haemolysis or blood loss
499
How should anaemia be investigated?
FBC - MCV, Hb
blood film
reticulocyte count
ferritin
B12, folate
bilirubin
direct coombs test
Hb electrophoresis
500
How is anaemia managed?
tx underlying causes
eg IDA - iron supplements
severe: blood transfusions
501
What is ITP?
idiopathic thrombocytopenic purpura
= spontaneous low platelet count causing a non-blanching rash
502
What type of reaction is ITP?
type II hypersensitivity
production of abs that target + destroy platelets spontaneously/due to trigger eg virus
503
Which children usually get ITP?
<10yrs
hx of recent viral illness
504
How does ITP present?
bleeding (gums, epistaxis, menorrhagia)
bruising
petechial or purpuric rash due to bleeding under skin
505
What is a petechial versus purpuric rash?
petechiae - pin prick spots (<1mm) of bleeding under skin
purpura - larger spots of bleeding under skin
large area of blood collected (>10mm) = ecchymoses
all non-blanching
506
How is ITP diagnosed?
urgent FBC - low platelet count, otherwise normal FBC
507
What are possible causes of low paltelets in children?
ITP
heparin induced thrombocytopenia
leukaemia
508
How is ITP tx?
depends on how low platelets are - usually no tx required, safety net and explain it is benign and should resolve in 6-8 wks, monitor until normal
active bleeding/platelets <10:
- prednisolone
- IV Ig
- blood transfusion. ifrequired
- platelet transfusions only work temporarily - abs destroy transfused platelets too
advice:
- avoid contact sports, IM injections/LPs, NSAIDs/aspirin/blood thinning meds
- managing nosebleeds
seek help after injury that may cause internal bleeding
509
What. arepossible complications of ITP?
chronic ITP
anaemia
intracranial/SA haemorrhage
GI bleeding
510
What is leukaemia?
cancer of a particular line of stem cells in the bone marrow > unregulated production of certain types of blood cells
511
What are the 3 types of leukaemia that affect children, from most to least common?
acute lymphoblastic (ALL)
acute myeloid (AML)
chronic myeloid (CML) = rare
512
When does the incidence of ALL and AML peak in children?
ALL: 2-3yrs
AML: 2yrs
513
What is the pathophysiological process behind leukaemia?
genetic mutation in one of the precursor cells in the bone marrow > excessive production of 1 type of abnormal wbc > can lead to suppression of other cell lines which can lead to underproduction of other cell types
= pancytopenia > anaemia + leukopenia + thrombocytopaenia (low rbcs, wbcs, palelets)
514
What is the main environmental RF for leukaemia? What conditions is it a/w?
radiation exposure eg abdo XR during pregnancy
Down's
Kleinfelter
Noonan
Fanconi's anaemia
515
How does leukaemia present?
non specifically
persistent fatigue
unexplained fever
FtT
weight loss, night sweats
pallor (anaemia)
petechiae, abnormal bruising + unexplained bleeding (thrombocytopenia)
abdo pain
lymphadenopathy
bone/joint pain
hepatosplenomegaly
516
How should leukaemia be ix?
any child with unexplained petechiae or hepatomegaly
urgent FBC - anaemia, leukopenia, thrombocytopenia, lots of the abnormal WBCs
blood film - blast cells
bone marrow/lymph node biopsy
others for staging eg CXR, CT, LP
517
How is leukaemia primarily tx?
chemo
518
What causes thalassaemia? How do alpha and beta thalassaemia differ?
autosomal recessive genetic defect in protein chains of Hb
defects in alpha chains > alpha
defects in beta chains > beta
519
What are the clinical features of thalassaemia?
microcytic ANAEMIA
fatigue, pallor
jaundice
gallstones
splenomegaly (fragile rbcs > break down more easily > spleen)
poor growth/development
pronounced forehead/malar eminences (bone marrow expands to produce extra rcs to compensate from chronic anaemia) + susceptibility to fractures
520
How is thalassaemia diagnosed?
FBC - microcytic anaemia
Hb electrophoresis - globin abnormalities
DNA testing - genetic abnormality
521
What must be monitored in pts with thalassaemia? Why?
serum ferritin
due to iron overload as a result of faulty rbcs, recurrent transfusions + increased absorption of Fe in the gut in response to anaemia
tx: limit transfusions, perform iron chelation
522
How is thalassaemia managed?
depends on type/severity
monitor + no tx
blood transfusions
more transfusions > iron chelation
splenectomy
bone marrow transplant
523
What are febrile convulsions?
seizures in children (6m-5yrs) with a high fever
not caused by epilepsy/neurological pathology
524
What are simple and complex febrile convulsions?
simple: generalised tonic clonic, <15 mins, occur once during a single febrile illness
complex: partial/focal seizures, >15 mins, multiple times during same febrile illness
525
How are febrile convulsions dx?
neurological pathology must be excluded eg epilepsy, meningitis/encephalitis, SOLs, syncopy, electrolyte abnormalities, trauma
viral/bacterial illness
526
How are febrile convulsions managed?
identify + manage underlying infection - analgesia
advice - safe place, recovery position, ambulance if >5mins
1st seizure = always hospital
527
Define allergen
antigen (protein) that the immune system recognises as foreign and potentially harmful > immune response
528
Define atopy
predisposition to having hypersensitivity reactions to allergens eg eczema, asthma, hayfever
529
What is the skin sensitisation theory of allergy?
break in the infant's skin that allows allergens eg peanut proteins from environment to cross skin+ react with immune system
+ child then does not eat food containing the allergen - GI tract would recognise the allergen as food and inform immune system
530
What is a type 1 hypersensitivity reaction?
IgE abs to specific allergen trigger mast cells + basophils to release histamines + cytokines
typical food allergy
531
What is a type 2 hypersensitivity reaction?
IgG + IgM abs react to an allergen and activate complement system > direct damage to local cells
eg haemolytic disease of newborn, transfusion reactions
532
What is a type 3 hypersensitivity reaction?
immune complexes accumulate + cause damage to local tissues
AI conditions eg SLE, RA, henoch-schonlein purpura
533
What is a type 4 hypersensitivity reaction?
cell mediated hypersensitivity reactions caused by T lymphocytes > inappropriately activated causing inflammation + damage to local tissues
eg organ transplant rejection, contact dermatitis
534
What are the 3 main ways of testing for an allergy?
skin prick = sensitisation not allergy
RAST (bloods to total + specific IgE) = sensitisation not allergy
food challenge testing = GS
sensitisation testing notoriously unreliable
535
How are allergic reactions treated?
antihistamines eg cetirizine
steroids
IM adrenalin in anaphylaxis
536
What type of reaction is allergic rhinitis?
IgE-mediated type 1 hypersensitivity
537
What is allergic rhinitis? When does it happen?
environmental allergens cause allergic inflammatory response in nasal mucosa
seasonal eg hayfever
perennial eg house dust mite allergy
occupational
538
What are the typical features of allergic rhinitis?
runny blocked itchy nose
sneezing
itchy red swollen eyes
pmh/fhx atopy
539
How is allergic rhinitis managed?
avoid trigger
oral antihistamines (non-sedating eg cetirizine, sedating eg chlorphenamine - piriton)
nasal corticosteroid sprays eg fluticasone
nasal antihistamines
540
What is CAH caused by a deficiency in? How. isit inherited?
21-hydroxylase enzyme
> underproduction of cortisol and aldosterone + overproduction of androgens
AR pattern
541
What is. thepathophysiology of CAH?
21-hydroxylase responsible for converting prog into aldosterone + cortisol
defect > extra prog that can't be converted to aldosterone + cortisol > gets converted to testosterone instead > low aldosterone + cortisol + high testosterone
542
In severe cases of CAH, how many males and females present?
females - virilised genitalia + enlarged clitoris
hyponatraemia/glycaemia + hyperkalaemia shortly after birth
> poor feeding, vomiting, dehydration, arrhythmias
543
How do mild cases of CAH present in males and females?
sx related to high androgen levels, may present in childhood/after puberty
females: tall, facial hair, amenorrheic, deep voice, early puberty
males: tall, deep, large penis, small testicles, early puberty
skin hyperpigmentation (ant pit > more ACTH due to low cortisol > byproduct = melanocyte stimulating hormone > melanin)
544
How is CAH managed?
monitor growth + development
cortisol replacement - usually hydrocortisone
aldosterone replacement - usually fludrocortisone
females with virilised genitals may need corrective surgery
545
Define eczema
chronic atopic condition caused by defects in the normal continuity of the skin barrier, leading to inflammation in the skin
546
How is eczema managed?
maintenance + mx of flares
maintenance: emollients, soap substitutes, avoid hot water/scratching/scrubbing/soaps/environmental triggers eg changes in temp, diet, washing powder, stress
flares: thicker emollients, topical steroids, wet wraps, treat infections
rarely in severe cases: IV abx, oral steroids
547
What is the role of an emollient in eczema?
to maintain skin barrier
some may only need a thin one eg E45, severe cases require a very thick greasy emollient eg 50:50 ointment, hydromol
use as thick as tolerated and required to maintain eczema
548
What is the role of a topical steroid in eczema. Give examples of mild > potent steroids.
use weakest steroid for shortest period required to get skin under control
thicker skin = stronger steroid, thin skin eg face, genitals = avoid or use very weak steroid
settle down immune activity in skin + reduce inflammation
mild: hydrocortisone
moderate: eumovate
potent: betnovate
veyr potent: dermovate
549
What are the side effects of topical steroids?
thinning of skin > more prone to flares, bruising, tearing, stretch marks, telangiectasia
possible systemic absorption depending on strength/location
balance ricks against risk of poorly controlled eczema
550
What is the most common causative organism of bacterial infections in children with eczema? How is it treated?
staph aureus
tx with oral flucloxacillin
551
What is eczema herpeticum?
viral skin infection in pts with eczema caused by HSV or VZV
= pts can be very unwell
552
What is Steven-Johnsons syndrome?
disproportional immune response causes epidermal necrosis
affecting <10% of the body surface (toxic epidermal necrolysis affects more)
553
What are the causes of SJS?
meds: anti-epileptics, abx, allopurinol, NSAIDs
infections: HSV, mycoplasma pneumonia, CMV, HIV
certain HLA genetic types
554
How does SJS present?
mild > severe/fatal
initially non-specific > fever, cough, sore throat/mouth/eyes, itchy skin
> purple/red rash that spreads across skin and strats to blister
> few days later: skin breaks away and sheds leaving raw tissue underneath
can affect lips, mucous membranes, eyes, urinary tract, lungs + internal organs too
555
How is SJS managed?
medical emergency - admission
nutritional care, antiseptic, analgesia, ophthalmology input
steroids
IGs
immunosuppressants
556
What are the complications of SJS?
toxic epidermal necrolysis (>10% of body)
2ndary infection: breaks in skin > 2ndary bacterial infection, cellulitis, sepsis
permanent skin damage: scarring/damage to skin/hair/lungs/genitals
visual complications: sore eyes > severe scarring/blindness
557
What is viral exanthemas?
eruptive widespread red rash caused by a viral infection
558
What are the 6 viral causes of viral exanthemas?
1. measles
2. scarlet fever
3. rubella
4. duke's disease
5. parvovirus B19
6: roseola infantum
559
What is roseola infantum? What is it caused by? How does it present?
human herpes virus 6
1-2wks after infection, presents with sudden onset high fever lasting 3-5 days then disppears suddenly
coryzal sx, sore throat, lympthadenopathy
rash appears for 1-2 days after fever settles - mild erythematous macular rash across arms, legs, trunk + face, not itchy
complication = febrile convulsions due to high temp
560
What is urticaria?
aka hives
small itchy lumps on skin, may be a/w patchy erythematous rash
can be widespread or localised
561
What is the pathophysiolgoy behind urticaria?
mast cells in the skin release histamine + pro-inflamm chemicals
acute urticaria eg allergic reaction
chronic idiopathic urticaria eg AI reaction in eg SLE = autoantibodies target mast cells and trigger them to release histamine etc
562
What may trigger acute urticaria?
food/meds/animal allergies
contacts with chemicals/latex/stinging nettles
meds
viral infections
insect bites
dermatographism
563
What may trigger chronic inducible urticaria?
sunlight
temp change
exercise
strong emotions
hot/cold weather
pressure
564
How is urticaria treated?
antihistamines
1st choice for chronic urticaria = fexofenadine
short course for severe flares: consider oral steroids
565
What genetic malformation causes Down's?
trisomy 21 (3 copies of chromosome 21)
566
What are the dysmorphic fx of Down's?
hypotonia
brachycephaly (small head, flat back)
short neck
short stature
flattened face and nose
prominent epicanthic folds (cover medial eye and eyelid)
upward sloping palpebral fissures (gaps between lower and upper eyelid)
single palmar crease
567
What complications is Down's a/w?
LD
recurrent otitis media
deafness
visual: myopia, strabismus, cataracts
hypothyroid
cardiac (1 in 3): ASD, VSD, PDA, ToF
atlantoaxial instability
leukaemia + dementia more common
568
What is the combined test for antenatal Down's screening?
between 11-14wks
nuchal translucency (>6mm)
+ b-HCG (high) + PAPPA (low)
569
What are the triple and quadruple tests for antenatal Down's screening?
triple: 14-20wks
bHCG (high) + AFP (low) + serum oestriol (low)
quadruple: 14-20wks
triple + inhibin-A (high)
570
What are the definitive tests after a high antenatal risk score for Down's?
risk score from combined/triple/quadruple testing
offered amniocentesis or CVS > karyotyping of fetal cells collected
alternative = NIPT (new, test mother's blood which will contain DNA
fragments of the placental tissue which would represent fetal DNA)
571
What routine follow up ix are needed for children with Down's?
thyroid checks
echo
audiometry
eye checks
572
webbed What genetic malformation causes TUrner's syndrome?
female has a single X chromosome (45XO)
573
What features are a/w Turner's?
*short stature
*webbed neck
high arching palate
downward sloping eye + ptosis
broad chest + *widely spaced nipples
cubitus valgus
underdeveloped ovaries + reduced function
late/incompelte puberty
most women = infertile
*classic 3
574
What conditions are a/w turner's?
recurrent ottitis media + UTIs
coarctation. ofthe aorta
hypothyroid
HTN
obesity + DM
osteoporosis
LDs
575
How is Turner's managed?
GH therapy = prevent short stature
oestrogen + progesterone replacement = can help establish female 2ndary sex characteristics/regulate menstrual cycle/prevent OP
fertility tx
576
What genetic malformation causes Klinefelters?
males have additional X chromosome (47XXY)
577
How may males with Klinefelter present?
tall
wide hips
gynaecomastia
weak muscles
small testicles
reduced libido
shyness
infertility
subtle LDs - speech & language
578
What injections can improve sx of Klinefleter's?
testosterone
579
What genetic malformation causes Marfan syndrome? How is it inherited?
AD condition affecting gene responsible for creating fibrillin (component of connective tissue)
580
How do patient's with Marfan syndrome present?
*tall
long neck, limbs + fingers (arachnodactyly)
high arch palate
*hypermobility
pectus carinatum/excavatum
downward sloping palpable fissures
*murmur (aortic/mitral regurg)
581
What is the key complication to look out for with Marfan's?
valve prolapse
aortic aneurysms
582
What is the genetic malformation causing fragile X syndrome? How is it inherited?
mutation in FMR1 gene (codes for gragile x mental retardation proteins ) - role in cognitive development
x-linked - unclear if dom/rec, males always affected, females vary in affect
583
What are the dysmorphic features of fragile x?
delay in speech & language
intellectual disability, ADHD, autism
long narrow face, large ears
large testicles after puberty
hypermobile joints
seizures
584
How is Noonan's inherited?
AD
a/w with number of genes
585
What are the features of Noonan's?
short stature
broad forehead
downward sloping eyes + ptosis
HYPERTELORISM (wide space between eyes)
prominent nasolabial folds
low set ears
webbed neck
widely spaced nipples
586
What is the genetic malformation that causes Prader-Willi?
loss of functional genes on proximal arm of C15 inherited from the father
due to deletion of that part of the chromosome or when both copes inherited from mother
587
What are the 2 key features of prader-willi?
insatiable hunger > obesity
hypotonia > difficulty feeding (treat with GH)
588
What genetic malformation causes angelman syndrome?
loss of function of the copy of the UBE3A gene inherited from the mother
due to a deletion on chromosome 15/mutation in this gene/2 copies inherited from father
589
What are the 3 novel features of angelman syndrome?
happy demeanour
unusual fascination with water
widely spaced teeth
590
What genetic malformation causes Edward's syndrome?
trisomy 18
very short lifespan
591
What are the causes of global developmental delay?
Down's
fragile X
fetal alcohol
rett
metabolic disorders
592
What are the causes of gross motor delay?
cerebral palsy
ataxia
myopathy
spina bifida
visual impairment
593
What are the causes of fine developmental delay?
dyspraxia
cerebral palsy
muscular dystrophy
visual impairment
594
What are the causes of language developmental delay?
specific social circumstances eg multiple languages, siblings doing all talking
hearing impairment
LD
neglect
autism
cerebral palsy
595
What are the causes of personal + social developmental delay?
emotional and social neglect
parenting issues
autism
596
What 3 vaccines are given at 8 weeks old?
diphtheria, tetanus, pertussis, polio, Hib, hep B
MenB
rotavirus
597
What 3 vaccines are given at 12 weeks old?
diphtheria, tetanus, pertussis, polio, Hib, hep B
pneumococcal (PCV)
rotavirus
598
What 2 vaccines are given. at16 weeks old?
diphtheria, tetanus, pertussis, polio, Hib, hep B
MenB
599
What 4 vaccines are given at age 1?
Hib + MenC
pneumococcal (PCV)
MMR
MenB
600
What 2 vaccines are given at 3yrs 4 months?
diphtheria, tetanus, pertussis, polio
MMR
601
What 3 vaccines are given between 12-14 years?
HPV 2 doses
tetanus, diphtheria + polio
MenACWY
602
Is cerebral palsy progressive?
no
nature of sx change over time during growth and development
603
What are the ante/peri/postnatal causes of cerebral palsy?
antenatal: maternal infections, trauma in pregnancy
perinatal: birth asphyxia, pre-term birth
postnatal: meningitis, severe neonatal jaundice, head injury
604
What are the 4 types of cerebral palsy?
spastic: hypertonia, reduced function due to UMN damage
dyskinetic: problems controlling muscles tone and hyper + hypotonia = athetoid movements + oro-motor problems, due to basal ganglia damage
ataxic: problems with coordinated movement due to cerebellum damage
mixed
605
How do children with cerebral palsy present?
failure to meet milestones
increased/decreased tone
*hand preference below 18 months
problems with coordination, speech or walking
feeding/swallowing problems
LD
606
Describe 5 gaits and their causes that may present in a child with CP
hemi/diplegic: UMN lesion
broad based/ataxic: cerebellar
high stepping: foot drop or LMN lesions
607
When is the heel prick test done? What does it test for?
hypothyroidism, PKU, metabolic diseases, cystic fibrosis, medium-chain acyl Co-A dehydrogenase deficiency (MCADD)
608
What is the basic outline of child surveillance from birth?
newborn: NIPE, hearing screening
1st mo: heel prick
following mo: health advisor input, GP exam at 6-8wks, immunisations
609
ICS inhalers increase the risk of what? How can the risk be reduced?
oral candidiasis
use a spacer
rinse mouth out after use
610
When should a child be admitted with tonsilitis?
if unable to swallow food/drink > IV fluids + analgesia
611
What is acute suppurative otitis media?
otitis media with purulent fluid in middle ear > see mucopurulent discharge
612
How does acute mastoiditis present?
tender boggy swelling behind pinna
loss of post-auricular sulcus
auricular proptosis
613
What is the dermatological name for a port wine stain?
naevus flammeus
614
What is a disimpaction regime for faecal impaction?
1. macrogol eg polyethylene glycol (if not tolerated, use osmotic instead) + electrolytes
2. add stimulant eg senna
615
When are bulk-forming laxatives useful?
children with small hard stools if fibre can't be increased in their diet
616
When does otitis media need to be referred to ENT?
>6 episodes in 12m
persistent OM with effusion for >3m bilaterally/>6m unilaterally
617
How is pyloric stenosis managed?
Ramstedt pyloromyotomy - excessive muscle removed
618
How is meckel's diverticulum mx?
wedge excision - only if symptomatic
619
Where is the murmur for coarctation of the aorta heard?
on back between scapula
620
Where is the murmur for coarctation of the aorta heard?
on back between scapula
621
Which condition is congenital heart block a/w?
SLE - linked to the presence of maternal anti-Ro and/or anti-La antibodies
622
How does complete heart block present on an ECG?
no coordination between atria + ventricles > complete dissociation between P waves + QRS
623
How may heart block present?
may be asymptomatic, may have severe HF
generally fine for first few yrs, then present with syncope
624
What key sign in infants is a/w congestive HF?
hepatomegaly
625
What is the first sign of puberty in boys?
enlargement of testes >4ml
626
What is the most common cause of arrest in children?
resp
