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NV - Phase 3A > Paeds > Flashcards

Paeds Flashcards

1
Q

By when should a child be able to walk?

A

12 months

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2
Q

What is the limit age for walking?

A

18 months

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3
Q

By when should primitve reflexes be diminished?

A

4-6 months

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4
Q

Persistent primitive reflexes can be a sign of which condition?

A

cerebral palsy

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5
Q

By when should a baby be able to sit unsupported?

A

6 months

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6
Q

By when should a child be able to make a mature pincer grip?

A

10 months

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7
Q

When should a child start to express 2-3 words in addition to mama and dada?

A

12 months

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8
Q

When should a child be able to talk in sentences?

A

2.5-3 yrs

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9
Q

At what age should a child start smiling?

A

6 weeks

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10
Q

At what age do children start playing with someone else interactively?

A

3 yrs

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11
Q

Up to which age is it normal to be able to see a quint in a child?

A

12 weeks

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12
Q

What are some genetic causes of severe visual impairment?

A

congenital cataracts
albinism
retinal dystrophy
retinoblastoma

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13
Q

What is the most common cause fo squint?

A

misalignment of the visual axes due to refractive errors

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14
Q

What tests can be done to detect a squint?

A

Corneal light reflex test

cover test

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15
Q

What are the refractive errors seen in childhood?

A

hypermetropia
myopia
amblyopia

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16
Q

How can you treat strabismus?

A

Conservative - glasses and orthoptic exercises
Surgery - resection muscle to strengthen, recession of muscle to weaken
Botox injection

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17
Q

What are the causes for conductive hearing loss in children?

A 
congestion behind eardrum (cold)
glue ear
ear wax
middle ear infection - otitis media 
perforated ear drum 
structural abnormality of outer ear
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18
Q

What are the causes of sensorineural hearing loss?

A

genetic
perinatal - trauma, infection, hypoxia at birth
congenital infection - rubella, CMV
meningitis - pneumococcus can cause ossification of the cochlea
premature babies are at higher risk

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19
Q

What is the main risk factor for Down’s syndrome?

A

Advanced maternal age

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20
Q

What are the 3 mechanisms by which trisomy 21 can arise?

A
  1. non-disjunction
  2. unbalanced Robertsonian translocation
  3. gonadal mosaicism
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21
Q

What are some classical appearance features seen in someone with Down’s syndrome?

A 
flat bridge of nose
epicanthic folds
flat occiput 
wide space between the eyes
protruding tongue 
single palmar crease 
loose nape of neck 
low set ears 
space between halux and second toe
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22
Q

What are some medical conditions that people with Down’s syndrome are more at risk of?

A 
complete atriventricular septal defect 
hypothyroidism 
duodenal atresia 
hypotonia 
later in life - Alzheimer's
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23
Q

How is Down’s syndrome screened for antenatally?

A

risk score calculated based on serum markers and nuchal translucency

diagnostic testing offered if high risk score - amniocentesis or chorionic villus sampling

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24
Q

What are some clinical features associated with Edward’s syndrome (trisomy 18)?

A 
low birthweight 
prominent occiput 
micrognathia 
short sternum 
flexed, overlappying fingers 
cardiac and renal malformations
microcephaly 
90% die in first year
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25
Q

What are some clinical features of Patau syndrome (trisomy 13)?

A 
holoprosencephaly 
scalp defects 
microphthalmia 
cleft lip and palate 
polydactyly 
not compatible with life
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26
Q

What are some clinical features of Turner’s syndrome?

A 
45, XO
female 
short stature 
webbed neck 
infertility/primary amenorrhoea 
delayed puberty
wide spaced nipples
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27
Q

What congenital heart defect is associated with Turner’s syndrome?

A

Coarctation of the aorta

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28
Q

How is Turner’s syndrome managed?

A

GH therpay
oestrogen replacement for development of secondary sexual characteristics
infertility - IVF

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29
Q

What is Kilnefelter’s syndrome?

A

Male inherits extra copy of X chromosome so is 47, XXY instead of 46, XY

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30
Q

What are the features of Klinefelter’s?

A 
male
tall stature 
slender with wide hips
infertility 
delayed puberty 
gynaecomastia
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31
Q

How do you manage Klinefelter’s?

A

testosterone replacement

1 injection/month for life

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32
Q

What is fragile X syndrome?

A

inherited form of learning disability due to a trinucleotide repeat expansion on the X chromosome

females have protection from other X chromosome so have milder phenotype

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33
Q

What are the clinical features of fragile X syndrome?

A 
cocktail personality - happy, bouncy
macrocephaly 
large ears
learning difficulties/autism 
joint laxity 
large testes
hypotonia
mitral valve prolapse
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34
Q

How would a diagnosis of fragile X be confirmed?

A

FISH testing - fluorescence in situ hybridisation

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35
Q

What is DiGeorge syndrome?

A

Abnormal brachial arch development leading to problems with the heart, thymus and palate.

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36
Q

What are the clinical features of DiGeorge syndrome?

A

Catch 22
Cardiac
Abnormalities
Thymus hypoplasia (T cell dysfunction –> primary immune def)
Cleft palate
Hypocalcaemia
22- chromosome 22 material deletion defect

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37
Q

What types of cardiac abonrmalities are seen in DiGeorge syndrome?

A 
truncus arteriosis
tetralogy of Fallot
interrupted aortic arch
coarctation 
vascular ring around trachea --> stridor
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38
Q

What is Noonan’s syndrome?

A 
look like boy version of Turner's
short stature
webbed neck 
ptosis 
hypothyroidism 
pulmonary stenosis 
hypogonadism
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39
Q

What is Marfan’s syndrome?

A

A connective tissue disorder caused by fibrillin deficiency

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40
Q

What are some clinical features of Marfan’s syndrome?

A 
Arachnodactyly - spider fingers 
aortic dilatation --> aneurysm --> dissection (echo!)
lens dislocation 
long arms and legs 
high arched palate
hypermobile joints
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41
Q

What type of connective tissue abnormality is associated with Ehler-Danlos syndrome?

A

Elastin defect - collagen abnormalities

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42
Q

What are the signs and symptoms of Ehler-Danlos syndrome?

A 
Stretchy skin
hyperflexible thumb 
excessive bruising 
tissue fragility 
brain aneurysms 
cigarette paper scars 
poor healing
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43
Q

WHat is the risk that a sibling of a child affected with an autosomal recessive condition is a carrier?

A

2 in 3 carrier risk for unaffected siblings = 66%

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44
Q

What is the population carrier risk for CF?

A

1 in 25

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45
Q

Give some examples of autosomal dominant conditions.

A 
adult polycystic kidney disease
familial hypercholesterolaemia 
Marfan's syndrome
Huntington's disease
Some cancer - BRCA - ovarian, breast
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46
Q

Give some examples of X-linked recessive conditions.

A

Duchenne’s and Becker’s muscular dystrophies
some types of albinism
haemophilia A
fragile X syndrome

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47
Q

What is the chromosomal abnormality in Prader-Willi syndrome?

A

Chromosome 15

2 copies from MUM or abnormal copy from dad

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48
Q

What are the clinical features of Prader-Willi syndrome?

A

Hypotonia
learning difficulties
obesity (due to hyperphagia)
small genitalia

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49
Q

What is the chromosomal abnormality in Angelman’s syndrome?

A

Chromosome 15

2 copies from DAD or abnormal copy from mum

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50
Q

What are the clinical features of Angelman’s syndrome?

A 
severe learning difficulty 
ataxia
broad based gait 
epilspey 
excessively happy - unprovoked laughing and clapping 
microcephaly
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51
Q

What are the congenital infections to be aware of?

A 
TORCHS: 
toxoplasmosis 
other (HIV)
rubella 
cytomegalovirus
syphilis

or CHRiST: CMV, HSV, rubella, syphilis, toxoplasmosis

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52
Q

What tx do you give to a pregnant woman with syphilis?

A

IM benzylpenicillin

53
Q

What tx do you give to a pregnant woman with toxoplasmosis?

A

spiromycin (they catch it from cat faeces or eating infected meat)

54
Q

What are some complications of measles?

A 
subacute sclerosing pan-encephalitis 
febrile convulsions
giant cell pneumonia 
diarrhoea 
appendicitis 
myocarditis
55
Q

What is Perthe’s disease and how does it present?

A

Degenrative condition of the hip joint due to avascular necrosis of the femoral head.

more common in boys
hip, limp, shortening of affected leg, pain on inernal and external rotation of the hip
imaging shows flattening of the femoral head

56
Q

What is the classical presentation of Hirschsprung’s disease?

A 
failure to pass meconium 
symptoms of bowel obstruction - abdo distension, bilious vomiting
FTT/low birthweight/size 
PR examination causes stool ejection 
more common in boys
57
Q

What is the definitive diagnosis for Hirschsprung’s disease?

A

Rectal biopsy

58
Q

What complications can occur to the foetus if the mother is infected with rubella during the pregnancy?

A

congenital cataracts
congenital heart disease
sensorineural deafness

so check MMR vaccine status in pregnant women!

59
Q

What is the main complication to worry about if a pregnant woman has CMV?

A

sensorineural hearing loss later in life

Pregnant women are not screened for CMV as there is no vaccine and no antiviral therapy so screening is not appropriate

60
Q

What are the consequences of infection with toxoplasmosis during pregnancy?

A

retinopathy
cerebral calcification
hydrocephalus

long term neuro disabilities

61
Q

What are the risks of chicken pox to the foetus during pregnancy?

A

<20 weeks - risk of skin scarring and neuro damage

2 days before or 5 days after delivery - high viral load as foetus is not protected by maternal antibodies - mortality is 30%

62
Q

How should a pregnant woman who has been exposed to chickenpox be treated?

A

VZIG (varicella zoster IG)

acyclovir

63
Q

Name 3 infectious diseases screened for in pregnancy?

A

syphilis, HIV and Hep B

64
Q

How is maternal syphilis treated during pregnnacy and what are the long term complications for the baby?

A

penicillin

if fully treated a month before delivery - good prognosis, infant does not require any tx

if any doubt of adequate maternal tx, infant also treated with penicillin

65
Q

What factors are considered when giving an Apgar score?

A 
cardio
resp
colour
reflexes
tone

7+/10 is normal

66
Q

What causes retinopathy of prematurity?

A

result of hyperoxic insult as the premature neonate is given oxygen as it is sturggling to breathe as blood vessels are still developing and this leads to damage to their eyesight

67
Q

What is the main risk factor for developing late onset neonatal infections?

A

Being in ICU/NICU

68
Q

What are the clinical features of neonatal sepsis?

A 
fever/hypothermia
poor feeding
vomiting
apnoea and bradycardia 
resp distress 
abdo distension 
jaundice
irritability 
seizures
lethargy
69
Q

How does GBS infection tend to present?

A

pneumonia
septicaemia
meningitis

70
Q

Women with which risk factors are seletively screened for GBS infection?

A

pre-term delivery
previous baby with GBS infection
prolonged rupture of membranes
fever>38 during labour

intrapartum antibiotics given if possible

71
Q

What can listeria monocytogenes infection be caught from?

A

unpasteruised milk
soft cheese
undercooked poultry

can cause miscarriage, pre-term delivery and foetal infection

72
Q

How to manage conjunctivitis and sticky eyes in newborns?

A

mostly just clean with water or saline or breastmilk

troublesome discharge (staph or strep) - neomycin eye ointment

Gonococcal infection - purulent discharge, tx with penicillin or 3rd gen cephalosporin

Chlamydia trachomatis eye infection - purulent, 1-2 weeks of age, idenity with immunofluorescent staining tx with oral erythromycin for 2 weeks

73
Q

What antibiotics would you prescribe for suspected neonatal sepsis?

A

IV broad spec

Beta lactam (amoxicillin) for gram +ve cover
Aminoglycoside (gentamicin) for gram -ve cover
74
Q

Why is it important to treat jaundice in neonates?

A

to prevent kernicterus

75
Q

What are the causes of jaundice that presents within 24 hours of birth?

A

congenital infection

haemolytic infections:

  • rhesus incompatibility
  • ABO incompatibility
  • G6PD deficiency
  • spherocytosis
  • pyruvate deficiency
76
Q

What are the causes of jaundice between 24 hours and 2 weeks of age?

A 
Physiological 
breast milk jaundice 
infection - UTI
haemolysis 
bruising 
polycythaemia 
Crigler-Najjar syndrome (rare inherited disorder which affects bilirubin metabolism)
77
Q

What are the causes of jaundice at >2 weeks of age?

A 
Unconjugated:
physiological
breat milk jaundice
infection 
hypothyroidism 
haemolytic anaemia 
high GI obstruction

Conjugated:
bile duct obstruction (biliary atresia)
neonatal hepatitis

78
Q

What investigations should be done on a child presenting with jaundice?

A

serum bilirubin level
transcutaneous bilirubin measurement

if suspected conjugated bilirubinaemia - USS of liver is gold standard for diagnosis

79
Q

What are some risk factors for neonatal hypoglycaemia?

A 
preterm infants
IUGR
babies born to diabetic mothers have hyperinsulinaemia 
large for dates
polycythemia 
unwell for any reason
80
Q

How does neonatal hypoglycaemia present?

A 
jitteriness
irritability 
apnoea 
lethargy 
drowsiness
seizures
81
Q

What is the definition of short stature?

A

Height below the 2nd centile

82
Q

What are the causes of short stature?

A 
familial 
IUGR and extreme prematurity 
constitutional delay of growth and puberty 
endocrine - GH deficiency, Cushing's, hypothyroidism 
Turner's, down's noonan's 
chronic illness and FTT
psychosocial deprivation 
skeletal dysplasias
83
Q

How do you investigate a child with short stature?

A

serial measurements plotted on growth chat
calculate mid-parental height
bone age scan - wrist x-ray
FBC, U&E
pituitary function test
dexamethasone suppression test - cushing’s
thyroid function tests
karyotype
coeliac antibodies - endomysial antibodies and anti-TTG

84
Q

What is the definition of tall stature?

A

height above 98th centile

85
Q

What are some causes of tall stature?

A 
familial 
obesity 
Marfan's syndrome
hyperthyroidism 
precocious puberty 
congenital adrenal hyperplasia 
true gigantism (before puberty and then acromegaly after)
86
Q

What is congenital adrenal hyperplasia?

A

a condition in which htere is reduced production of cortisol +/- aldosterone
most commonly due to 21-hydroxylase deficiency
the cortisol and aldosterone pre-cursors are instead converted into testosterone (which causes virilisation of the external genitalia in girls)

reduced amoutn of circulating cortisol –> increased ACTH production –> adrenal hyperplasia

87
Q

What is the inheritance pattern of CAH?

A

autosomal recessive

88
Q

What is a large risk factor for CAH?

A

consangineous parents

89
Q

How does CAH present?

A

females - ambiguous genitalia

males - salt-losing crisis with vomiting, weight loss floppiness and circulatory collapse

90
Q

What would the biochemical abnormalities be in a salt-losing CAH baby?

A

hyponatermia
hyperkalaemia
metabolic acidosis
hypoglycaemia

91
Q

How do you treat a baby in a CAH salt losing crisis?

A

IV saline
IV dextrose
IV hydrocortisone

92
Q

How is CAH treated?

A

corrective surgery for external genitalia issues in females

lifelong hydrocortisone (glucocorticoid replacement )
in salt-losers also lifelong fludrocortisone (mineralocorticoid replacement)
93
Q

How can mild and severe failure to thrive be quantified?

A

Mild - fall across 2 centile lines on growth chart

severe - fall across 3 centile lines on growth chart

94
Q

What is the most common surgical cause of acute abdo pain in children?

A

Appendicitis (uncommon under age 3)

95
Q

What is the most common cause of intestinal obstruction in the neonatal period?

A

intussusception (usually at ileocaecal valve)

96
Q

What are the causes of acute abdo pain in children?

A

acute appendicitis
non-specific abdo pain
intussusception
Meckel’s diverticulum
Malrotation
Medical causes - lower lobe penumonia, DKA< hepatitis, pyelonephritis
Boys - testicular torsion, strangulated inguinal hernia

97
Q

What is Rovsing’s sign?

A

LIF pressure causes RIF pain

98
Q

What is the clinical presentation of intussusception?

A 
Severe colicky pain
sausage shaped palpable mass 
inconsolable crying 
passage of red currant jelly stool 
abdo distension 
shock
vomiting
99
Q

What is the clinical presentation of Meckel’s diverticulum?

A

severe rectal bleeding - neither bright red nor malaena

can present as intussusception, volvulus, diverticulitis

100
Q

How does malrotation present?

A

1-3 days of life with intestinal pbstruction

bile or blood-stained vomit
abdominal pain
tenderness
Often associated with exomphalos and congenital diaphragmatic hernia

101
Q

What is the gold standard investigation for appendicitis?

A

CT abdo

102
Q

How is a definitive diagnosis of mesenteric adenitis made?

A

Laparotomy/laparoscopy showing normal appendix and large mesenteric lymph nodes

103
Q

What is the gold standard investigation for intussusception?

A

ultrasound scan - shows “target sign”

XR abdo - istended small bowel and no gas distally

104
Q

How would you investigate suspected malrotation?

A

urgent upper GI contrast study

105
Q

What are the causes of recurrent abdominal pain in children?

A

GI - IBS, constipation, non-ulcer dyspepsia, abdo migraine, gastritis, PUD, IBD, malrotation, coeliac disease

Gynae - dysmenorrhoea, ovarian cysts, PID - do pregnancy test if sexually active

Liver - hepatitis
pancreatitis
UTI
psychosocial - bullying, abuse, stress

106
Q

What is the clinical presentation of IBS?

A 
change in bowel habit 
sensation of intra-abdo events 
pain - relieved by defecation 
stools with mucus 
bloating 
feeling of incomplete defecation 
mix of constipation and diarrhoea
107
Q

How does non-ulcer dyspepsia present?

A 
epigastric pain 
postprandial vomiting 
belching
bloating 
early satiety 
heartburn
108
Q

How is abdominal migraine treated?

A

Pizotifen - serotonin receptor antagonist

109
Q

What are the causes of vomiting in infants?

A 
reflux 
feeding problems 
infection - gastroenteritis, whooping cough, UTI, meningitis
dietary protein intolerances
intestinal obstruction - pyloric stenosis, atresia, Hirschsprung's, malrotation, intussusception 
CAH
inbonr errors of metabolism
renal failure
110
Q

What are the causes of vomiting in pre-school children?

A 
gastroenteritis 
other infections - kidneys, septicaemia, meningitis 
appendicitis 
intestinal obstruction 
raised ICP
coaeliac disease 
renal failure 
inborn errors of metablism 
torsion of testis
111
Q

What is the gold standard investigation for GORD?

A

pH study

112
Q

What other investigations might you do for GORD?

A

pH study
barium swallow and meal
Endoscopy
trial PPI

113
Q

How to manage a baby with GORD?

A

position of their feeds - on their left, hold them upright
thicken feeds - Nestargel
Gaviscon
drugs - antacid, H2 block (ranitidine), PPI, domperidone
surgery - Nissin fundoplication

114
Q

What are some causes of acute diarrhoea?

A

viruses - rotavirus, norovirus, enterovirus
bacteria - C.diff, E.coli, salmonella, campylobacter
parasites - giargia
other infections - otitis media, tonsilitis
food allergies

115
Q

What are the features of hypernatraemia dehydration?

A

complication of diarrhoea where water loss exceeds sodium loss

jittery movements
increased muscle tone
hyperreflexia 
convulsions
drowsiness
irritable
116
Q

How does cow’s milk protein allergy present?

A 
loose stool 
vomiting 
FTT
reflux
mouth ulcers
atopic hx - eczema, asthma, ahyfever 
bloody stools
constipation
very rarely - anaphylaxis
117
Q

How does lactose intolerance present?

A

explosive watery stools
abdominal distension
flatulence
audible bowel sounds

118
Q

What investigations do you do for coeliac disease?

A

antibodies - endomysial and tissue transglutaminase

gold standard - intestinal (jejunal) biopsy showing villous atrophy and crypt hyperplasia

119
Q

What is encopresis?

A

involuntary soiling

120
Q

What ae some ddx for constipation in children?

A 
Hirschsprung's 
anorectal malformations
spina bifida 
neuromuscular disease
hypothyroidism 
hypercalcaemia 
coeliac disease
food allergy/intolerance 
CF
sexual abuse
poor diet
121
Q

How is constipation treated?

A 
det, fluids, exercise 
toilet training 
star charts - simple reward scheme 
medications:
softener - lactulose 
movicol 
stimulant - senna, docusate sodium 
bulking agent - fybogel
122
Q

What is the main risk factor for neonatal respiratory distress syndrome?

A

Prematurity

123
Q

What is the main risk factor for transient tachypnoea of the newborn?

A

Caesarean section

124
Q

What are the features of a severe asthma attack?

A 
SpO2 < 92%
PEF 33-50%
too breathless to talk or feed
heart rate > 125 (>5yrs), >140 (1-5yrs)
resp rate >30 (>5 yrs), >40 (1-5yrs)
use of accessory neck muscles
125
Q

What are the criteria for a life threatening asthma attack?

A 
SpO2<92%
PEF<33%
silent chest 
poor resp effort 
agitation 
altered consciousness 
cyanosis
126
Q

What are the symptoms of measles?

A 
CCCK:
cough
coryza
conjunctivitis
Koplick spots on buccal mucosa

Rash - maculopapular, spreads from behind the ears
fever
marked malaise

127
Q

What are the clinical features of mumps?

A 
fever
malaise
parotitis 
pain on eating and drinking 
earache 
hearing loss - unilateral and transient
128
Q

What are some complications of mumps?

A 
viral meningitis and encephalitis 
orchitis - reduced sperm count in males
oophoritis 
mastitis 
arthritis
129
Q

What time of year do you expect to see rubella virus?

A

winter and spring months

NV - Phase 3A (7 decks)

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