paediatrics Flashcards

1
Q

For a child born in the United Kingdom, at what age would their hearing first be formally assessed?

A

newborn - otoacoustic emission

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

pyloric stenosis presentation

A

3-6 wks

projectile, non-bilious vomiting
hunger between episodes

olive mass

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

ix pyloric stenosis

A

USS = thickened pylorus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what would gas show in pyloric stenosis

A

hypochoraemic hypokalaemic metabolic alkalosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

tx pyloric stenosis

A

Rhamsteds op - laproscopic pyloromyotomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what is hirchsprungs

A

lack of nerve fibres in part of the gut (aganglionic myeteric plexus)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

presentation of hirchsprungs

A

just born
failure to pass meconium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

ix hirchsprungs

A

full thickness rectal biopsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

tx hirchsprungs

A

anorectal pull through procedure = SWENSON

(after rectal washouts)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is meckel’s diverticulum

A

an outpouching or bulge in the lower part of the small intestine
The bulge is congenital and is a leftover of the umbilical cord.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

presentation meckel’s diverticulum

A

1-2 yrs
bright red GI bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

ix meckel’s diverticulum

A

technetium scan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

tx meckel’s diverticulum

A

wedge excision surgery if sx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

mesenteric adenitis presentation

A

central abdo pain + URTI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

mesenteric adenitis tx

A

conservative

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what is mesenteric adenitis

A

swollen lymph glands in abdo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

presentation cystic fibrosis

A

meconium ileus
bilious vomiting
abdo distension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

presentation intussusception

A

6-9 months

sausage shaped mass (RUQ?)
red current jelly stool (late sign)
vomiting (bilious if obstruction)
knees up to chest - colicky pain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

ix intussusception

A

USS abdo - doughnut/target sign

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

tx intussusception

A

rectal air enema / insufflation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

duodenal atresia presentation

A

congenital
Downs
polyhydramnios

bilious vomiting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

ix duodenal atresia

A

abdo XR = double bubble

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

tx duodenal atresia

A

duodenoduodenostomy surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

presentation biliary atresia

A

jaundice >14 days
pale stools, dark urine

in neonates

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

ix biliary atresia

A

increased conjugated bilirubin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

tx biliary atresia

A

kasai procedure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

presentation oesophageal atresia

A

tracheo-oesophageal fistula + polyhydramnios

choking and cyanotic spells following aspiration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

presentation disphragmatic hernia

A

resp distress after birth

bowel sounds tinkling in lung fields

assoc w pulmonary hypoplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

tx diaphragmatic hernia

A

NG tube
intubate + ventilate
surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

presentation intestinal malrotation

A

high caecum at the midline

volvulus in first few days of life leading to bile stained vomiting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

ix intestinal malrotation

A

upper GI contrast study + USS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

tx intestinal malrotation

A

laparotomy
Ladd’s procedure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

presentation necrotising enterocolitis (NEC)

A

bilious vomiting
distended abdo
bloody stools
x feeds
unwell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

ix necrotising enterocolitis (NEC)

A

supine abdo x ray = gas in bowel wall (pneumatosis intestinalis) , dilated bowel loops, wall oedema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

tx necrotising enterocolitis (NEC)

A

NBM
laparotomy
cefotaxime whilst waiting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

presentation of slipped upper femoral epiphysis (SUFE)

A

8-15 yrs
fat boy, growth spurt
exaggerated pain (from small trauma)
prefers external rotation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

ix slipped upper femoral epiphysis (SUFE)

A

XR (front leg view)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

tx slipped upper femoral epiphysis (SUFE)

A

surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

inheritance of duchennes muscular dystrophy

A

x-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

presentation duchennes muscular dystrophy

A

boys 3-5yrs
weakness in pelvic muscles
progressive to all muscles
GOWERS SIGN - The child assumes the hands-and-knees position and then climbs to a stand by “walking” his hands progressively up his shins, knees, and thighs.
wheelchair by teens
LE 23-35 yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

tx duchennes muscular dystrophy

A

oral steroid
creatinine supplements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

septic arthritis presentation

A

hot, painful joint
systemic sx
x weight bear
decreased ROM

fever > 38.5
increased inflam markers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

septic arthritis tx

A

aspirate
abx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

presentation transient synovitis

A

3-10 yrs
needs urgent assessment

recent URTI
joint pain after this
otherwise well

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

ix transient synovitis

A

joint aspirate under US guidance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

tx transient synovitis

A

analgesia
safety net

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

RFs developmental dysplasia of the hip (DDH)

A

breech
FHx
First born
oligohydramnios
>5kg
foot def

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

presentation Developmental dysplasia of the hip (DDH)

A

barlows and ortolani

unstable, dislocates easily

hip asymmetry, decreased range of movement, limp

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

ix Developmental dysplasia of the hip (DDH)

A

USS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

tx Developmental dysplasia of the hip (DDH)

A

pavlik harness < 6 months
surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

perthes disease presentation

A

5-8 yrs boys
pain - slow onset
- hip + referred to knee
limp
decreased range of movement
no trauma hx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

what is perthes disease

A

avascular necrosis of the femoral head

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

ix perthes disease

A

XR = decreased joint space and decreased size of femoral head
early disease can be missed -> MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

tx perthes disease

A

observation if < 6 yrs
older - surgery?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

what do you give for meningitis >3 months old

A

IV ceftriaxone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

what do you give for meningitis < 3 months old

A

IV cefotaxime + amoxicillin (to cover listeria)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

what do you give for meningitis prophylaxis for close contacts

A

ciprofloxacin tablet single dose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

pink rash with swinging fever

A

JIA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

what is screened on the newborn blood spot test

A

sickle cell disease
cystic fibrosis
congenital hypothyroidism
inherited metabolic diseases
severe combined immunodeficiency - sometimes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

inheritance of congenital adrenal hyperplasia

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

what is congenital adrenal hyperplasia

A

deficiency of 21-hydroxylase

leading to underproduction of cortisol + aldosterone and overproduction of adrogens (testosterone)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

electrolyte imbalances in severe congenital adrenal hyperplasia and what does that lead to

A

hyponatraemia
hyperkalaemia
(as there is deficiency of aldosterone which is needed to cause Na to be retained and K to be excreted)
hypoglycaemia

  • poor feeding
  • vomiting
  • dehydration
  • arrythmias
  • collapse
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

how to females w CAH present at birth

A

virilised genetalia
enlarged clitoris

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

mild CAH presentation in F

A

Tall for their age
Facial hair
Absent periods
Deep voice
Early puberty

skin hyperpigmentation (due to increased ACTH trying to increase cortisol but a byproduct is melanocyte stim hormone)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

mild CAH presentation in M

A

Tall for their age
Deep voice
Large penis
SMALL testicles
Early puberty

skin hyperpigmentation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

mx of CAH

A

Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency
Aldosterone replacement, usually with fludrocortisone
Female patients with “virilised” genitals may require corrective surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

presentation of croup

A

barking cough
stridor (as URTI)
low fever
hoarse voice
increased work of breathing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

what causes croup

A

PARAINFLUENZA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

tx croup

A

oral dexamethasone
single dose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

emergency croup tx

A

high-flow oxygen
nebulised adrenaline

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

what causes bronchiolitis

A

Respiratory syncytial virus (RSV)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

presentation of bronchiolitis

A

winter
<6 months old
ex-prem < 2yrs

wheeze (LRTI)
crackles
resp dis
URTI 1st? - coryzal sx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

when to admit px w bronchiolitis

A

< 3 months
pre-existing condition - premature, downs, CF, congenital HD
< 50-75% normal milk intake
dehydration
RR > 70
sats < 92%
mod-severe resp distress
apnoeas
under-confident parents

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

what is given as prevention of bronchiolitis and who to

A

monthly palivizumab injection
to high risk babies - ex-prem, HD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

what is CF + what is its inheritance

A

Condition affecting mucus glands

Caused by a genetic mutation of the CF gene on chromosome 7. Most common variant is the delta-F508 mutation. This gene codes for cellular channels, particularly a type of chloride channel.

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

key consequences of CF gene mutation

A

Thick pancreatic and biliary secretions that cause blockage of the ducts -> lack of digestive enzymes such as pancreatic lipase in the digestive tract

Low volume thick airway secretions that reduce airway clearance -> bacterial colonisation and susceptibility to airway infections

Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate -> male infertility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

first sign of CF

A

meconium ileus - abdo dis + vomiting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

symptoms of CF

A

Chronic cough
Thick sputum production
Recurrent RTIs
Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes
Abdominal pain and bloating
Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat
Poor weight and height gain (failure to thrive)

pancreatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

signs of CF

A

Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheezes on auscultation
Abdominal distention

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

CF dx

A

Newborn blood spot testing

The sweat test is the gold standard for diagnosis - high Cl conc

Genetic testing for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

how do px w CF prevent s. aureus infections

A

take long term prophylactic flucloxacillin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

hardest coloniser to get rid of in CF

A

Pseudomonas Aeruginosa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

murmur in ventricular septal defect (VSD)

A

pan systolic at left sternal edge

systolic thrill on palpation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

what are VSDs assoc w

A

downs
turners

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

sx of VSD

A

poor feeding
dyspnoea
tachypnoea
failure to thrive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

tx of VSD

A

small - watch
transvenous catheter closure via femoral vein / open heart surgery
there is an increased risk of infective endocarditis - abx proph in surgeries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

when do you dx pyelonephritis

A

A temperature greater than 38°C or
Loin pain or tenderness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

sx of UTI in babies

A

Fever
Lethargy
Irritability
Vomiting
Poor feeding
Urinary frequency

89
Q

sx of UTI in older children

A

Fever
Abdominal pain, particularly suprapubic pain
Vomiting
Dysuria (painful urination)
Urinary frequency
Incontinence

90
Q

ix UTI

A

clean catch urine dipstick
- nitrites (bacteria break down nitrates into this)
- leukocytes

both = UTI
nitrites = UTI
just leukoctyes = no UTI
if either are present send to microbio lab

91
Q

< 3 months with fever

A

IV abx
full septic screen
consider LP

92
Q

UTI > 3 months

A

oral abx if otherwise well
usually:
trimethoprim
nitrofuratoin
cefalexin
amoxicillin

93
Q

when to do USS in UTI

A
  • < 6 months with their first UTI. Do within 6 weeks, during if recurrent / atypical bacteria
  • recurrent UTIs - within 6 weeks
  • atypical UTIs - during the illness
94
Q

how to assess damage from recurrent UTIs

A

DMSA scan 4-6 months after illness

95
Q

what is Vesico-Ureteric Reflux (VUR)

A

where urine has a tendency to flow from the bladder back into the ureters. This predisposes patients to developing upper urinary tract infections and subsequent renal scarring

96
Q

how is VUR dx

A

micturating cystourethrogram (MCUG

97
Q

when to do MCUG

A

used to investigate atypical or recurrent UTIs in children under 6 months

It is also used where there is:
- a family history of vesico-ureteric reflux
- dilatation of the ureter on ultrasound
- poor urinary flow

98
Q

nephrotic syndrome triad

A

Low serum albumin
High urine protein content (>3+ protein on urine dipstick)
Oedema

99
Q

other features of nephrotic syndrome

A

Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins
High blood pressure
Hyper-coagulability, with an increased tendency to form blood clots

100
Q

most common cause of nephrotic syndrome

A

minimal change disease

101
Q

mx of nephrotic syndrome

A

high dose steroids - pred - for 4 wks then ween
low salt diet
diuretics
albumin infusions
abx proph

102
Q

what to use in steroid resistance children w nephrotic syndrome

A

ACE inhibitors and immunosuppressants such as cyclosporine, tacrolimus or rituximab

103
Q

EEG in absence seizure

A

3-hertz spike + wave discharges

104
Q

tx of absence seizure

A

ethosuximide

105
Q

what triggers myoclonic juvenile jerk

A

lack of sleep

106
Q

what is strabismus

A

misaligned eyes

107
Q

what is amblyopia

A

affected eye is passive + decreases in func compared to dominant eye

108
Q

what is hypertropia

A

upward moving affected eye

109
Q

what is hypotropia

A

downward moving affected eye

110
Q

what is exotropia

A

outward position squint

111
Q

what is esotropia

A

inward position squint

112
Q

what to do if child develops new squint

A

CT head

113
Q

what is whooping cough caused by

A

bordetella pertussis

114
Q

tx of whooping cough

A

admit if < 6 months
oral macrolide (within 21 days) - clarihtromycin/azithromycin/erythromycin

115
Q

what is epiglottitis caused by

A

h. influenza

116
Q

tx epiglottitis

A

IV cefotaxime

117
Q

XR epiglottitis

A

thumb sign

118
Q

neonatal hypoglycaemia is when there is a level of

A

< 2.6 mmol/L

119
Q

what can neonatal hypoglycaemia be caused by

A

preterm birth (< 37 weeks)
maternal diabetes mellitus
IUGR
hypothermia
neonatal sepsis
inborn errors of metabolism
nesidioblastosis
Beckwith-Wiedemann syndrome

120
Q

features of neonatal hypoglycaemia

A

may be asymptomatic
autonomic (hypoglycaemia → changes in neural sympathetic discharge)
- ‘jitteriness’
- irritable
- tachypnoea
- pallor
neuroglycopenic
- poor feeding/sucking
- weak cry
- drowsy
- hypotonia
- seizures
other features may include
- apnoea
- hypothermia

121
Q

neonatal hypoglycaemia tx

A

asymptomatic
- encourage normal feeding (breast or bottle)
- monitor blood glucose
symptomatic or very low blood glucose
- admit to the neonatal unit
- intravenous infusion of 10% dextrose

122
Q

when is hand preferenece abnormal

A

before 12 months

123
Q

which childhood infections are notifiable

A

measles
scarlett fever
rubella

124
Q

measles presentation

A

KOPLIC spots - grey in cheek
rash = head + neck -> rest of body
may get conjunctivitis

coryzal sz b4

125
Q

complication of measles

A

otitis media

126
Q

when can you go to school w measles

A

4 days after rash

127
Q

tx measles

A

supportive

128
Q

what causes roseola

A

Human herpes virus 6

129
Q

roseola features

A

high fever that starts suddenly

RASH after fever
- rose-pink macules w surrounding pale halo
- trunk then limbs

simple febrile seizures

130
Q

what causes hand foot + mouth disease

A

cocksacki A16

131
Q

hand foot + mouth features

A

blisters on hands + feet
ulcerations on tongue
fever + cold sx

132
Q

mx hand foot + mouth

A

supportive

133
Q

what causes impetigo

A

staph aureus

134
Q

impetigo features

A

pupuric rash w discrete patches w golden crusts
fevers

135
Q

impetigo tx

A

topical fusidic acid

might need oral flucloxacillin if widespread or severe

136
Q

when to go to school w impetigo

A

48 hrs after abx

or until all lesions have healed

137
Q

5 features of Kawasaki disease

A

high fever 5 + days
strawberry tongue
cervical lymphadenopathy
bilateral conjunctivitis
swelling/erythema of extremities

138
Q

ix in kawasaki

A

FBC = anaemia, leukocytosis and thrombocytosis
LFTs = hypoalbuminemia + elevated liver enzymes
Inflammatory markers (particularly ESR) are raised
Urinalysis = WBCs without infection
ECHO to check coronary artery

139
Q

tx kawasaki

A

high dose aspirin

IV immunoglobulins

140
Q

why do you usually avoid aspirin in children

A

risk of Reye’s syndrome

141
Q

what causes chicken pox

A

VZV <- human herpes virus 3

142
Q

chicken pox features

A

prodrome of viral sx - fever + lethargy
vesicular rash - crusts + forms blisters

143
Q

incubation for chicken pox

A

3 wks

144
Q

when can you go to school w chicken pox

A

after all lesions have crusted over

145
Q

rubella features

A

rash starts on head + spreads to trunk
low grade fever
postauricular lymphadenopathy

146
Q

when can you go to school w rubella

A

5 days from rash

147
Q

HSP features

A

often triggered by an upper airway infection or gastroenteritis

purpuric rash on legs + buttocks
sore joints
nephritis
abdo pain

148
Q

features of parovirus B19 / fifths disease / slapped cheek syndrome

A

red cheeks
fever
cold sx
lace-like rash - once they have this they are no longer infectious

149
Q

tx of parovirus B19 / fifths disease / slapped cheek syndrome

A

supportive - para / ibu

150
Q

features of scarlett fever

A

strawberry tongue - peri-oral sparing
sandpaper rash
fever

151
Q

what causes scarlett fever

A

group A strep - strep pyrogens

152
Q

tx scarlett fever

A

10 days phenoxymethylpenicillin

153
Q

when can you go to school w scarlett fever

A

24 hrs from abx

154
Q

what is turner’s syndrome

A

45 XO

FEMALES

155
Q

features of turners

A

delayed puberty - primary amenorrhoea

webbed neck
wide nipples
short
spoon nails

otitis media

bicuspid aortic valve (ejection systolic murmur)
aortic coarctation

156
Q

features of noonan’s + its inheritance

A

AD

thought of as male turners

webbed neck
pectus excavatum

pulmonary stenosis (ejection systolic)
pulmoNOONanary

157
Q

what is Patau syndrome

A

trisomy 13

158
Q

features of Patau syndrome

A

small eyes
cleft Palate / lip
Polydactyly

(does not usually survive)

159
Q

features of pierre-robin

A

posterior displacement of tongue (you’re ROBIN’ me of my airway!)

cleft palate

Micrognathia (undersized lower jaw)

160
Q

what is Edward’s syndrome

A

trisomy 18

161
Q

features of Edward’s syndrome

A

low set ears
rock bottomed feet
overlapping fingers
small jaw

162
Q

features of fragile X

A

features in males: (females will have one fragile chromosome + one normal so may present more normally)
long face
large ears
large testes

learning diff

autism more common

mitral valve prolapse

163
Q

what is fragile X

A

trinucleotide repeat disorder

164
Q

features of prader-willi

A

fat
hypotonia
hypogonadism

165
Q

features of cri du chat

A

Characteristic cry due to larynx and neurological problems
feeding diff
learning diff
long distance between eyes

166
Q

what is cri du chat

A

chromosome 5p deletion syndrome

167
Q

features of William’s syndrome

A

friendly
elfin facies
learning diff

hypercalcaemia

supravalvular aortic stenosis

168
Q

what is William’s syndrome

A

inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7

169
Q

most common cause of neonatal sepsis

A

maternal group B strep infection

170
Q

most common fractures seen in child abuse

A
  • Radial
  • Humeral
  • Femoral
171
Q

how does IgA nephropathy present

A

macroscopic haematuria in young people following an upper respiratory tract infection

172
Q

what is a nephroblastoma (wilms tumour) + how does it present

A

most common paeds renal cancer

presents in first 4 yrs of life
a mass associated with haematuria
Often metastasise early (usually to lung)
Treated by nephrectomy

173
Q

Androgen insensitivity syndrome inheritance

A

X-linked recessive

174
Q

what is androgen insensitivity syndrome

A

end organ resistance to testosterone
genotypically MALE children (46XY) but with FEMALE phenotype

175
Q

features of androgen insensitivity syndrome

A

primary amenorrhoea
undescended testes causing groin swellings
breast dev may occur as a result of conversion of testosterone to oestradiol

176
Q

mx androgen insensitivity syndrome

A

counselling - raise child as female
bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
oestrogen therapy

177
Q

what is kallman’s syndrome

A

genetic condition causing of delayed puberty 2ndary to hypogonadotrophic hypogonadism (prob w pituitary)

178
Q

kallman’s syndrome inheritance

A

X-linked recessive

179
Q

what is hypogonadism

A

lack of the sex hormones, oestrogen and testosterone

either due to hypogonadotrophic hypogonadism or hypergonadotrophic hypogonadism

180
Q

what is hypogonadotrophic hypogonadism

A

deficiency of LH and FSH, leading to a deficiency of the sex hormones testosterone and oestrogen

a result of abnormal func of the hypothalamus or pituitary

181
Q

what is hypergonadotrophic hypogonadism

A

where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH)

no -ve feedbacl so get increasing amounts of FSH + LH

182
Q

features of kallman’s syndrome

A

boy
‘delayed puberty’
hypogonadism, cryptorchidism
anosmia (LACK OF SMELL)
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height

183
Q

what is klinefelter’s syndrome

A

47, XXY
Primary hypogonadism

184
Q

features of klinefelter’s syndrome

A

often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels

185
Q

examination w PDA

A

left subclavicular thrill
continuous ‘machinery’ murmur
large volume, bounding, collapsing pulse
wide pulse pressure
heaving apex beat

186
Q

what is PDA

A

congenital heart defect
connection between the pulmonary trunk and descending aorta
usually, the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins (which keep the duct open) clearance
more common in premature babies, born at high altitude or maternal rubella infection in the first trimester

187
Q

mx PDA

A

indomethacin or ibuprofen
- given to the neonate
- inhibits prostaglandin synthesis
- closes the connection in the majority of cases

188
Q

RFs for neonatal sepsis

A

Mother who has had a prev baby with GBS infection, who has current GBS colonisation from prenatal screening, current bacteruria, intrapartum temperature ≥38ºC, membrane rupture ≥18 hours, or current infection throughout pregnancy

Premature (<37 weeks): approximately 85% of neonatal sepsis cases are in premature neonates

Low birth weight (<2.5kg): approximately 80% are low birth weight

Evidence of maternal chorioamnionitis

189
Q

features in tetralogy of fallot

A

Ventricular septal defect (VSD)
Overriding aorta
Pulmonary valve stenosis
Right ventricular hypertrophy

190
Q

RFs tetralogy of fallot

A

Rubella infection
Increased age of the mother (over 40 years)
Alcohol consumption in pregnancy
Diabetic mother

191
Q

s+s tetrallogy of fallot

A

Cyanosis (blue discolouration of the skin due to low oxygen saturations)
Clubbing
Poor feeding
Poor weight gain
Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border)
“Tet spells”

192
Q

when does a baby smile responsively

A

6-8 wks

193
Q

when does a baby raise head to 45 deg prone

A

6-8 wks

194
Q

when does a baby follow a moving object/face

A

6-8 wks

195
Q

what is the limit for a baby to sit up

A

9 mths

196
Q

what is the limit for a baby to transfer objects between hands

A

9 mths

197
Q

what is the limit for mature pincer grip

A

12 mths

198
Q

what is the limit for walking

A

18 mths

199
Q

vaccine schedule

A

2m - 6in1, rotavirus, Men B
3m - 6in1, rotavirus, PCV
4m - 6in1, Men B

1yr - MMR, PCV, Men B, 2in1
3-4yrs - MMR, 4in1

12yrs - HPV

13-14yrs - 3in1, Men ACWY

2-8 yrs annual flu vaccine

200
Q

what is in the 6in1 vaccine + when do you get it

A

diptheria
tetnus
polio
pertussis
Hib
Hep B

2, 3, 4 months

201
Q

what is in the 2in1 vaccine + when do you get it

A

Hib, Men C

1yr

202
Q

what is in the 4in1 vaccine + when do you get it

A

diptheria
tetnus
polio
pertussis

3-4yrs

203
Q

what is haemolytic disease of the newborn

A

immune condition that develops when a rhesus -ve mother becomes sensitised to the rhesus +ve blood cells of her baby whilst in utero

204
Q

pre-delivery features of haemolytic disease of the newborn

A

hydrops foetalis - fetal oedema in at least 2 compartments (pericardial effusion, pleural effusion, ascites)
yellow coloured amniotic fluid

205
Q

post delivery features of haemolytic disease of the newborn

A

jaundice + kernicterus
foetal anaemia
hepato/splenomegaly
severe oedema

206
Q

what is Epstein’s pearl

A

congenital cyst found in the mouth found in posterior hard palate

no tx, spontan resolve

207
Q

what are Bohn’s nodules

A

smooth white cysts found on the gums

208
Q

what is gastroschisis

A

a congenital defect in the anterior abdominal wall just lateral to the umbilical cord
(no peritoneal covering)

209
Q

what is exomphalos (omphalocoele)

A

the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum

210
Q

mx of exomphalos (omphalocoele)

A

c section is indicated to reduce the risk of sac rupture
a staged repair as primary closure may be difficult due to lack of space/high intra-abdominal pressure, need to allow lung adaptation

211
Q

mx gastroschisis

A

surgical correction ASAP
- cover with cling-film(since no peritoneal covering)

212
Q

components of feverPAIN score

A

fever in last 24 hrs
Pus/Purulent tonsils
Attended </= 3 days
Inflammation
No cough

213
Q

choice of tx based on feverPAIN score

A

0-1 = no abx
2-3 = 3 day back up prescription
4+ = abx
(higher likelihood of being steptococci)
if antibiotics are indicated then either phenoxymethylpenicillin or erythromycin (if the patient is penicillin allergic) should be given. Either a 7 or 10 day course should be given

214
Q

indications for tonsillectomy

A

7 eps 1 yr
5 eps in the prev 2 yrs each
3 eps a yr for 3 yrs

215
Q

diet advice for CF

A

High calorie and high fat with pancreatic enzyme supplementation for every meal

216
Q

what to give for neonatal abstinence syndrome (NAS) w non-opiates?

A

phenobarbital

217
Q

threadworm bacteria

A

Enterobius vermicularis

218
Q

threadworm tx

A

mebendazole (an anthelmintic ) single dose for all the household alongside hygiene measures