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Cross reference - year 5 > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

what are the primitive reflexes?

A
  • moro
  • stepping
  • rooting
  • palmar and plantar grasp
  • atonic neck
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2
Q

what is moro?

A

sudden head drop = arms out stretched

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3
Q

what is rooting?

A

baby turns head/opens mouth when corner of mouth is touched

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4
Q

what is atonic neck?

A

fencing position

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5
Q

when do the primitive reflexes disappear?

A
  • MORO (4 months)
  • stePPing (2 months)
  • ROOTing (4 months)
  • GRASP (4/5 months)
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6
Q

what are the limit ages for gross motor milestones?

A
  • head control = 4 months
  • sits unsupported = 9 months
  • stand with support = 12 months
  • walk independently = 18 months
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7
Q

what are the limit ages for vision and fine motor?

A
  • fixes and follows = 3 months
  • reaches = 6 months
  • transfers = 9 months
  • pincer grip = 12 months
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8
Q

what are the limit ages of hearing, speech, language?

A
  • polysyllabic babble = 7 months
  • consonant babble = 10 months
  • 6 words with meaning = 18 months
  • joining words = 2 years
  • 3 word sentences = 2.5 years
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9
Q

what are the limit ages for social, emotional and behaviour skills?

A
  • smiles = 8 weeks
  • fears strangers = 10 months
  • feeds self with spoon = 18 months
  • symbolic play = 2-2.5 years
  • interactive play = 3-3.5 years
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10
Q

what information is given in the 2 week new baby review?

A
  • safe sleeping
  • vaccination
  • feeding
  • caring
  • development
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11
Q

what are the 8 week vaccination?

A
  • 6 in 1
  • Men B
  • Rotavirus
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12
Q

what are the 12 week vaccines?

A
  • 6 in 1
  • pneumococcal
  • rotavirus
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13
Q

what are the 16 week vaccines?

A
  • 6 in 1

- Men B

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14
Q

what are the 1 year vaccine?

A
  • MMR

- Boosters (Hib, Men C, Men B, pneumococcus)

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15
Q

what are the 3yrs 4 month vaccine?

A
  • 2nd MMR
  • DTP (Diptheria, Tetanus, Polio)
  • Pertussis
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16
Q

what are the vaccines at 12-14 yrs?

A

2 x HPV

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17
Q

what are the vaccines at 14 years?

A

DTP

Men ACWY

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18
Q

what is included in 6 in 1 vaccine?

A 
Parents Will Immunise Toddlers Because Death
Polio
Whooping cough
Influenzae (Hib)
Tetanus
B (Hepatitis)
Diptheria
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19
Q

how do you manage Green on NICE traffic light system?

A

manage at home
appropriate care advise
safety netting

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20
Q

how do you manage Amber on NICE traffic light system?

A

safety net

or refer to paediatric specialist for further assessment

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21
Q

how do you manage red on traffic light system?

A

refer urgently to paeds

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22
Q

treatment of early onset sepsis

A

IV cefotaxime + amikacin + ampicillin

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23
Q

treatment of late onset sepsis

A

IV meropenem + amikacin + ampicillin

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24
Q

what are the pediatric sepsis red flag signs?

A
  • hypotension
  • lactate >2mmol/L
  • extreme tachycardia/tachypnoea
  • SpO2 <90%/grunting/cyanosis/apnoea
  • P/U on AVPU
  • immunocompromised
  • non-blacnhing rash/mottled skin
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25
Q

what is opisthotonos?

A

hyperextension of neck and back

sign of meningitis

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26
Q

what is Kernig’s sign?

A

pain on leg straightening

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27
Q

what is Brudzinski’s sign?

A

supine neck flexion = knee/hip flexion

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28
Q

when should you give dexamethasone in meningitis?

A

if CSF shows:

  • purulent CSF
  • WBC > 1000/uL
  • Raised CSF WCC
  • protein >1g/L
  • bacteria gram stain
  • > 1 month old and Hib
  • not meningococcal
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29
Q

extra management for bacterial meningitis

A
  1. Notify HPU
  2. review pt at 4-6 weeks
  3. discuss long term complications (hearing loss = audiological assessment, neuro/development problems, renal failure)
  4. treat contacts with ciprofolaxacin
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30
Q

what further support should you offer to these pt?

A

www.meningitis.org

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31
Q

when is the apgar score measured and what is normal?

A

1 min, 5 min and every 5 mins after if condition remains poor
>7 normal

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32
Q

what are the appearance scores?

A

0: pale/blue
1: body pink, extremities blue
2: pink

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33
Q

what are the scores for pulse?

A

0: absent
1: <100bpm
2: >100bpm

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34
Q

what is the score for grimace?

A

0: none
1: grimace
2: cry/cough

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35
Q

what are the scores for activity?

A

0: flaccid
1: some flexion of limbs
2: well flexed, active

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36
Q

what are the scores for respiration?

A

0: absent
1: gasping/irregular
2: regular/ strong cry

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37
Q

what is Patau’s syndrome?

A
  • trisomy 13

- most die in 1st month of life

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38
Q

characteristics of Patau

A
  • cardiac defects: VSD, PDA, dextrocardia
  • microcephaly
  • microphthalmia
  • cleft lip
  • polydactyl
  • omphalocele/ gastroschisis
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39
Q

what is Edward’s syndrome?

A

trisomy 18

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40
Q

what are the features of edwards syndrome?

A
  • LBW
  • small mouth/chin
  • low set ears
  • “Rocker-bottom” feet
  • overlapping fingers
  • intellectual disability
  • cardiac, renal, GI abnormalities
  • omphalocele/ gastroschisis
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41
Q

what are the features of down’s syndrome?

A
  • hypotonia, short neck
  • single palmar crease
  • sandal gap
  • short stature
  • upslanting palpebral fissures
  • flat occiput
  • AVSD
  • omphalocele/gastroschisis
  • round face
  • flat nasal bridge
  • brushfields spots in iris
  • 3rd fontanelle
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42
Q

what is the defect of Noonan’s?

A

mutated RAS/ mitogen activated protein kinase

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43
Q

what are the features of Noonan’s?

A
  • webbed neck
  • trident hairline
  • pectus excavatum
  • short stature
  • pulmonary stenosis
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44
Q

cause of prader willi/angelmen’s

A

deletion of 15q (imprinting)
PW = father
A = mother

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45
Q

Prader willi symptoms

A
  • fat, floppy, flaccid
  • hypotonia
  • hyperphagia
  • almond shaped eyes
  • hypogonadism
  • obesity
  • epicanthal folds
  • flat nasal bridge and upturned nose
  • learning difficulties
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46
Q

what are the features of Angelman’s?

A
  • cognitive impairment
  • ataxia
  • epilepsy
  • abnormal facial appearance
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47
Q

what causes Turner’s syndrome?

A

45X

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48
Q

features of Turner’s

A
  • lymphoedema of hands/feet in neonate
  • short stature
  • spoon shaped nails
  • wide carrying angle
  • thick or webbed neck
  • infertility
  • bicuspid aortic valve/coarctation of aorta
  • delayed puberty
  • hypotyroidism
  • pyloric stenosis
  • cystic hygroma
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49
Q

management of Turner’s syndrome

A

GH therapy

oestrogen replacement therapy at puberty

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50
Q

what is the cause of Kleinfelter’s?

A

47 XXY

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51
Q

symptoms of Kleinfelter’s

A

infertility
hypogonadism
gynaecomastia
tall stature

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52
Q

what is the cause of fragile X?

A

CGG Trinucleotide repeat expansion mutation

FMR 1 gene

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53
Q

what are the symptoms of fragile X?

A
  • Mean IQ = 50
  • macrocephaly, macroorchidism
  • large, low set ears
  • long thin face
  • autism, joint laxity
  • mitral valve prolapse
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54
Q

what are the symptoms of foetal alcohol syndrome?

A
  • microcephaly
  • absent philtrum
  • cardiac abnormalities
  • reduced IQ
  • IUGR
  • small upper lip
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55
Q

what are the different chromosomal pathogenesis in Down’s syndrome?

A

94%: Meiotic non-disjunction (Chr fail to separate)
5%: Translocation (Robertsonian translocation)
1%: Mosaicism

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56
Q

what are the birth medical problems people with Down Syndrome have?

A
  • congenital heart defects (40% AVSD)
  • duodenal atresia
  • Hirschprung’s
  • omphalocele (+ umbilical hernia)
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57
Q

what are the later medical problems experienced in Down’s syndrome?

A
  • delayed motor milestones
  • learning difficulties
  • short stature
  • secretory otitis media
  • visual impairment
  • OSA
  • joint laxity
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58
Q

what does down syndrome increase the chance of?

A
  • leukaemia
  • epilepsy
  • hypothyroidism
  • coeliac
  • early onset Alzheimer’s
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59
Q

what is the immediate management in Down’s?

A
  • Echo
  • genetic counselling
  • development delay: Physio, OT, SALT
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60
Q

what is the later management in Down’s?

A
  • annual hearing test, thyroid levels, ophthalmic
  • individualized education plan
  • Hb level for IDA
  • monitor signs of OSA
  • monitor growth using Down syndrome growth charts
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61
Q

what support can you recommend in Downs?

A
  • local DS clinic
  • access to local parent support group
  • Down Syndrome association = help line and info
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62
Q

what is the first newborn hearing exam?

A

EOAE testing

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63
Q

what is positional talipes and management?

A

feet remain in in-utero position

  • -> due to intrauterine compression
    management: physio
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64
Q

what is talipes equinovrus?

A

clubfoot
management: plaster casting and bracing (Ponsetti method)
Surgery

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65
Q

signs of mild HIE

A

irritable
staring eyes
hyperventilation
hypertonia

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66
Q

signs of moderate HIE

A

hypotonic
not feeding
seizures

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67
Q

signs of severe HIE

A

hypo-to-hyper tonic
seizures prolonged and refractory to treatment
multi-organ failure

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68
Q

Signs and symptoms of cerebral palsy

A
  • stiff legs, scissoring of legs
  • unable to weight bear/lift head
  • fisted hands
  • hypotonia and spasticity
  • feeding difficulties
  • abnormal gait
  • hand preference before 1
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69
Q

types of CP

A
  • spastic
  • dyskinetic
  • ataxic
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70
Q

what is spastic CP?

A

damage to UMN pathway

increase tone, brisk reflexes, “clasp knife” rigidity

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71
Q

3 main types of spastic CP

A
  1. unilateral/hemiplegia
  2. bilateral/quadriplegia (Hx of HIE)
  3. dipelgia (legs affected more)
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72
Q

what is diplegia spastic CP associated with?

A

preterm damage

PVL

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73
Q

what causes dyskinetic CP?

A

damage to basal ganglia

cause: HIE, kernicterus

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74
Q

sign of dyskinetic

A

involuntary uncontrolled movements

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75
Q

what causes ataxic CP?

A

damage to cerebellum

most genetically determined

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76
Q

what is a classic feature of CP?

A

persistent toe walking

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77
Q

support in CP website

A

SCOPE disability charity

www.cerebralpalsy.org.uk

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78
Q

what staging system is used for NEC?

A

Bell’s staging

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79
Q

what are the appearances of NEC on an AXR?

A

gas cysts in bowel wall

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80
Q

what are the metabolic causes of jaundice?

A
  • Gilbert’s (infection trigger)
  • Crigler-Najjar (glucuronyl transferase deficiency = massive uBR)
  • Dubin Johnson
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81
Q

what do you need to give after exchange transfusion/phototherapy/IVIG?

A

folic acid to prevent anaemia

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82
Q

what are the important things to remember in phototherapy?

A

protect eyes
regular feeding breaks
check bilirubin levels every 4-6 hours

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83
Q

what are the resources you can recommend in neonatal jaundice?

A
  • NHS choices neonatal jaundice fact sheet

- breastfeeding network

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84
Q

what is persistent pulmonary hypertension associated with?

A
  • birth asphyxia
  • meconium aspiration
  • septicaemia
  • RDS
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85
Q

what are the PPH S/S?

A

cyanosis after birth
absent heart sounds
signs of HF

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86
Q

what are RDS RFs?

A

male
DM mothers
CS
2nd born of premature twin

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87
Q

what is the appearance of RDS on CXR?

A

ground glass appearance

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88
Q

what is the meconium ileus management?

A

gastrograffin enema

surgery

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89
Q

when does a malrotation present?

A

3-7 days after birth

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90
Q

investigations and management of malrotation volvulus?

A

USS and GI contrast

Tx: Ladd’s procedure

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91
Q

what to watch out for in cleft-lip before repair?

A

specialised feeding

watch out for airway probelm

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92
Q

what is bilary atresia?

A

progressive fibrosis and obliteration of extra and intra hepatic trees
= chronic liver failure in 2 years

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93
Q

what are the 3 types of biliary atresia?

A

T1: common bile duct atresia
T2: cystic duct atresia
T3: full atresia

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94
Q

Signs and symptoms of biliary atresia

A

obstructive jaundice
faltering growth
hepatosplenomegaly
NO vomiting

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95
Q

investigations in biliary atresia

A

USS: triangular cord sign

gold standard: TIBIDA isotope scan, ERCP+/- biopsy

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96
Q

management of complications in biliary atresia?

A

fat soluble vitamins
ursodeoxycholic acid
prophylactic antibiotics (to prevent cholangitis)

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97
Q

what gene mutation causes CAKUT?

A

PAX 2

98
Q

renal causes of CAKUT

A
  • multicystic kidneys
  • medullary spongy kidney
  • renal agenesis
  • horseshoe kidney
99
Q

what are the non-renal CAKUT?

A

PUJ obstruction
VUR
Bladder outlet obstruction

100
Q

what is the anatomical cause of VUR?

A

ureters enter bladder perpendicularly

= shorter intramural course

101
Q

when do you refer for undescended testes? treatment?

A

refer at 3m

medical: b-hCG
surgery: orchidopexy

102
Q

diagnostic criteria of constipation

A

(2+ of)

  • <3 complete stools a week
  • hard, large, stool or rabbit droppings
  • overflow soiling 1+ year
  • distress, pain, bleeding associated with stool
103
Q

GOR management if formula fed

A
  1. review feeding history
  2. trial smaller more frequent feeds
  3. trial of thickened formula
  4. trial of alginate therapy
  5. pharmacological
104
Q

if you have persistent colic, what should you think?

A

cows milk protein allergy

reflux

105
Q

what is Meckel’s Diverticulum?

A

ileal remnant of vitello-intestinal duct on anti-mesenteric border
Ix: Technetium scan

106
Q

sign of Malrotation/volvulus and management

A

scaphoid abdomen

Mx: Ladd’s procedure

107
Q

normal maintenance fluid in paeds

A

5% dextrose and 0.9% NaCl

108
Q

neonatal fluid resus on day 0, 1 and 2

A

0: 60ml/kg/day
1: 90ml/kg/day
2. 120ml/kg/day

109
Q

what is the nutritional management in Chron’s?

A

replace diet with whole protein molecular diet

excessively liquid for 6-8 weeks

110
Q

support website for Chron’s/UC

A

www.chronsandcolitis.org.uk

111
Q

what are the UC scoring systems?

A

Paediatric Ulcerative Colitis Activity Index (PUCAI)

Truelove and Witts

112
Q

what disorder is co-existent with UC?

A

depression

113
Q

what are the Hirschprung RFs?

A

Down’s
MEN 2a
del(Chr 10)

114
Q

what makes up lactose? what happens in lactose intolerance?

A

lactose = glucose + galactose

lactose ferments in gut = increase waste gas, pain and bloating

115
Q

what is the pathophysiology of an indirect inguinal hernia?

A
  • each testicle creates a passage (process vaginalis) as it travels into scrotum
  • failure of passage to close = abdo lining and bowel protrude through defect
115
Q

what is the pathophysiology of an indirect inguinal hernia?

A
  • each testicle creates a passage (process vaginalis) as it travels into scrotum
  • failure of passage to close = abdo lining and bowel protrude through defectwhat
115
Q

what is the pathophysiology of an indirect inguinal hernia?

A
  • each testicle creates a passage (process vaginalis) as it travels into scrotum
  • failure of passage to close = abdo lining and bowel protrude through defectwhat
116
Q

what are the RFs for umbilical hernia?

A

Afro-Carribean
Down’s
Mucopolysaccharide disease

117
Q

what are the features of poor prognosis in acute liver failure?

A
  • shrinking liver
  • rising bilirubin
  • falling transaminases
  • worsening coagulopathy
118
Q

what are the management options of Wilson’s disease?

A
  • zinc (blocks Cu resorption)

- pyrioxidine (vit B6 –> prevent peripheral neuropathy)

119
Q

what is a long term consequence of polio?

A

massive respiratory problems

120
Q

symptoms of typhoid fever

A
  • splenomegaly
  • bradycardia (sphygomothermic dissociation)
  • rose spots
121
Q

what are the symptoms of dengue fever?

A

headache (retro-orbital)
sunburn like rash
high fever
myalgia

122
Q

what type of virus is mumps?

A

paramyxovirus

123
Q

what type of virus is rubella?

A

togavirus

124
Q

rubella vs measles

A

in rubella no koplik spots or conjunctivitis

125
Q

what is the cause of ataxia telangiectasia?

A
  • defective DNA repair

- inc risk of lymphoma

126
Q

S/S of ataxic telangiectasia

A

cerebellar ataxia
developmental delay
telangiectasia in eyes

127
Q

Wiskott-Aldrich S/S

A

eczema, recurrent infection, thrombocytopenia (WATER)

128
Q

what is duncan disease?

A

inability to generate a normal response to EBV

129
Q

what is included in the asthma bolus step?

A

1st line MgSO4 bolus

130
Q

treatment of acute otitis media with perforation

A

oral amoxicillin 5 days

review in 6 weeks to ensure healing

131
Q

treatment of acute otitis externa

A

topical drops of acetic acid and Abx (neomycin, clioquinol)

132
Q

aspects of the CENTOR score

A

CETTA

  • exudate/swelling on tonsils
  • tender/swollen anterior cervical lymph nodes
  • temperature >38
  • cough absent
  • age 3-14yo
133
Q

genetics behind CF

A

CFTR
cAMP dependent chloride channel
chromosome 7
F508

134
Q

tests for TB

A

manteaux test, IGRA test

135
Q

rheumatic cases major criteria (CASES)

A 
Carditis
Arthritis
Subcutaneous nodules
Erythema marginatum
Sydenham's Chorea
136
Q

what are the minor cases in rheumatic cases (FRAPP)>

A 
Fever
Raised ESR
Arthralgia
Prolonged PR interval
Previous RF
137
Q

conservative measures for prevention of UTI

A
  • high fluid intake
  • ensure complete bladder emptying
  • good perineal hygiene
  • regular voiding
  • treatment/prevention of constipation
138
Q

when does phimosis mostly resolved?

A

4

139
Q

what are the key features of hypospadias?

A
  • ventral foramen
  • hooded foreskin
  • ventral curvature
140
Q

what are the different AKI stages defined by serum creatinine?

A
  1. 1.5-1.9x sCr
  2. 2.0-2.9x sCr
  3. > 3 sCr
141
Q

what are the different AKI stages based on Urine Output?

A
  1. <0.5ml/kg/hr 6-12 hours
  2. <0.5ml/kg/hr >12 hours
  3. <0.3ml/lg/hr >24 hours
142
Q

what are the 3 types of non-proliferative glomerulonephritis?

A
  1. focal segmental (secondary to HIV/ Obesity)
  2. Membranous (primary, secondary due to SLE/drugs)
  3. Minimal change
143
Q

which 2 non-proliferative can turn into proliferative

A

focal segmental and membranous

144
Q

what are the 3 proliferative glomerulonephritis?

A

IgA nephropahty e.g. HSP
Membranoproliferative glomerulonephritis
Rapidly progressive (cresentric)

145
Q

what are the 2 subtypes of rapidly progressive?

A
  • vasculitic (granulomatosis with polyangiitis, microscopic polyangiitis)
  • anti-GBM
146
Q

what are the complications of nephrotic syndrome?

A
  • risk of thrombosis
  • risk of infection
  • hypercholesterolaemia
147
Q

treatment of intrinsic renal failure

A

high calorie, normal protein feed

decreases catabolism, uraemia and hyperkalaemia

148
Q

what are the features of focal segmental glomerulonephritis?

A
  • segmental scarring and foot process fusion
  • HTN and impaired renal function
  • older children
  • 50% respond to steroids
149
Q

what are the features of membranous nephropathy?

A
  • widespread thickening
  • granular deposits of Ig and complement
  • adult
  • Mx: supportive
150
Q

complications of HSP

A
  • intusseption
  • pancreatitis
  • ARF
  • arthritis of knees
151
Q

what are the associations of Wilm’s Tumour (Nephroblastoma)?

A
  • Beckwith-Wiedemann syndrome
  • WAGR syndrome
  • 1/3 WT1 gene mutation on Chr 11
152
Q

what mutation is associated with pilocystic astrocytoma?

A

BRAF

153
Q

what are the focal signs of a supratentorial lesion?

A
  • focal neurological deficits
  • seizures
  • personality change
154
Q

what are the focal signs of subtentorial lesions?

A
  • cerebellar ataxia
  • long tract signs
  • cranial nerve palsies
155
Q

HL immunophenotyping?

A

CD30
CD15
diagnostic markers

156
Q

HL treatment

A

ABVD +/- radiotherapy

157
Q

NHL treatment

A

R-CHOP

158
Q

Burkitt’s translocation

A

8;14 (c-myc)

159
Q

how does osteosarcoma appear on X-ray?

A

soft tissues calcifications = sunburst appearance

elevated periosteum = “Codman’s triangle”

160
Q

Ewings translocation

ewings vs osteosarcoma

A

t(11;22)

PAIN

161
Q

retinoblastoma chromosome and gene mutation

A

Chr 13

encodes pRB

162
Q

what is the blood disorder associated with Turner’s syndrome?

A

Haemophilia

163
Q

What is the limit for Chronic ITP? What is the treatment?

A 
after 6 months
Tx:
- mycophenolate mofetil
- rituximab 
- elthrombag (TPO agonist)
2nd line: splenectomy
164
Q

what chromosomes are the beta and alpha genes found on?

A

beta gene: Chr 11

alpha gene: Chr 16

165
Q

what is the one of the first signs of SCD in children?

A

hand and foot syndrome (dactylitis)

166
Q

what would be seen on a blood smear in SCD?

A
  • sickle cells
  • Howell-Jowell bodies (hyposplenism)
  • nucleated RBCs
167
Q

what are the options for chronic problems in SCD?

A
  • hydroxycarbamide

- HSCT

168
Q

what are the different categories of inherited metabolic disorders?

A
  • aminoacidopathies e.g. PKU, G6PDD, homocystinuria
  • urea cycle disorders e.g. Citrullaemia type 3
  • organic acidaemias e.g. isovoleric acidaemia
  • carbohydrate disorders e.g. galactosaemia
169
Q

what are the different disorders of energy metabolism?

A
  • mitochondrial disorders: Barth (birth), MELAS (5-15yo), Kearns-Sayre (12-30yo)
  • fatty acid oxidation disorders e.g. MCADD
  • glycogen storage disease (5 types, Von-Gierke’s, McArdle)
170
Q

what are the disorders of complex organelles?

A
  • lysosome storage disorders e.g. mucopolysaccharide, oligosaccharide
  • peroxisomal disorders e.g. Zellweger syndrome
171
Q

what is glutaric aciduria type 1 ?

A
  • def: glutaryl-CoA dehydrogenase

- S/S: encephalopathy, macrocephaly

172
Q

what is the management of glutaric aciduria type 1?

A

avoid fasting
low protein diet
L-carnitine supplement

173
Q

what is a definition of isovaleric acidaemia?

A

def: isovaleryl-CoA dehydrogenase

S/S: metabolic acidosis, hyperammonaemia, cheesy sweaty smell

174
Q

what is maple syrup urine disease?

A

def: alpha-ketoacid dehydrogenase

S/S: encephalopathy 1 week, sweet-smelling urine

175
Q

management of maple syrup urine disease

A

low protein diet

176
Q

what is Gaucher’s disease?

A

lysosomal storage disorder

def: beta-glucosidase

177
Q

S/S of gaucher’s disease

A

hepatosplenomegaly, seizures

178
Q

what is Tay-Sachs disease?

A

hexosaminidase A deficiency

179
Q

S/S of Tay-Sachs disease

A

deaf blind progressive neurodegeneration

180
Q

what is Von Gierke’s?

A

glucose cannot be liberated from glucose-6-phosphate

181
Q

what is McArdle’s?

A

muscle cramps/ weakness after first few minutes then “second wind of energy”

182
Q

S/S of glycogen storage disease

A

hypoglycaemia
lactic acidosis
neutropaenia

183
Q

treatment of mild/moderate acne

A
  • topical retinoid +/- BPO
  • topical clindamycin +/- Clindamycin
  • azelaic acid 20%
184
Q

what is naevus flammeus and what distribution?

A

port-wine stain

trigeminal nerve distribution

185
Q

what syndromes is infantile haemangioma associated with?

A

Kasabach-Merritt
PHACES syndrome
LUMBAR syndrome

186
Q

what sign can be seen in congenital haemangioma?

A

transient thrombocytopaenia

187
Q

what is erythema toxicum? how common is it?

A

50% newborns

maculo-paupular pustular lesions

188
Q

features of 5 alpha reducatse deficiency

A

XY genotyope
increase testosterone at puberty virilises genitalia
S/S: ambiguous genitalia, internal male organs present

189
Q

features of androgen sensitivity syndrome?

A

S/S: feminisation, no internal male or female organs

XY genotype

190
Q

what is 21-hydroxylase deficiency (CAH)?

A

S/S: ambigious genitalia, salt losing crisis

XX genotype

191
Q

what is 17 alpha-hydroxylase deficiency (CAH)?

A

S/S: feminisation, hypertensive

XY genotype

192
Q

different DM diagnosis criteria

A

fasting >7.0mmol/L
random OGTT >11.1 mmol/L
HbA1c > 48 mmol/mol

193
Q

what are the impaired glucose tolerance values?

A
  1. 1-7.0mmol/l fasting

7. 8-11.1 mmol/l OGTT

194
Q

give examples of long acting insulin

A

glargine

determir

195
Q

what can cause bilateral enlargement of GDPP?

A

GDPP (intracranial lesion)

196
Q

what can cause unilateral enlargement?

A

gonadal tumour

197
Q

what can cause small testes?

A

tumour or CAH (adrenal cause )

198
Q

what should you measure if CAH is suspected?

A

urinary 17-OH progesterone

199
Q

features of McCune-Albright Syndrome

A
  • polyostotic fibrous dysplasia
  • cafe au lait spots
  • ovarian cysts
200
Q

what are the signs and symptoms of hypochondroplasia?

A

small stature
micromelia (small extremities)
large head

201
Q

what gene is involved in achondroplasia and hypochondroplasia?

A

FGFR3 gene

202
Q

achondroplasia signs and symptoms

A
  • short stature
  • depression of nasal bridge
  • marked lumbar lordosis
  • large head, frontal bossing
  • “trident hands”
203
Q

X-ray findings in achondroplasia

A 
metaphyseal irregularity (cheviron deformity)
flaring in long bones
204
Q

what are the unique features of congenital hypothyroidism?

A

coarse features
macroglossia
umbilical hernia

205
Q

what are the different ways rickets can be caused by a phosphate deficiency?

A
  1. reduced phosphate intake
  2. renal tubular phosphate loss = hypophosphatemic rickets
  3. acquired hypophosphatemic rickets = Fanconi anaemia, RTA, nephrotoxic drugs
206
Q

what are the features of rickets on X-ray?

A
  • thickened and widened epiphysis
  • cupping metaphysis
  • bowing diaphysis
207
Q

Ottawa ankle rule

A

X-ray only indicated if
1. Pain in malleolar zone
+ tenderness at posterior edge or tip of lateral malleolus or medial malleolus
+ inability to weight bear immediately or in A&E
2. Pain in midfoot zone
+ tenderness at base of fifth metatarsal/navicular
+ inability to weight bear immediately or in A&E

208
Q

cause of OS disease

A

osteochondritis of patellar tendon insertion at knee

209
Q

what is chondromalacia patellae

A

degeneration of articular cartilage on posterior surface of patella

210
Q

Still’s disease management

A
  • MDT rheumatology
  • NSAIDs/ corticosteroids
  • DMARDs
  • TNFalpha instability
211
Q

what is SUFE?

A

displacement of epiphysis of femoral head postero-inferiorly
treat to prevent avascular necrosis
AP and frog leg X-ray needed

212
Q

S/S of DDH

A
  • abnormal gait
  • delayed crawling
  • asymmetrical skin folds
  • limb length discrepancy (Galeazzi sign)
213
Q

cause of reflex anoxic seizures

A

cardiac asystole due to vagal inhibition

214
Q

definition of a seizure

A

transient occurrence due to abnormal excessive or synchronous activity in brain

215
Q

epilepsy definition

A

international league against epilepsy 2017

216
Q

3 types of myoclonic seizures

A

3-12yo: benign rolandic
12-18yo: Juvenile myoclonic epilepsy
progressive myoclonic

217
Q

features of benign rolandic

A

face/ upper limb in sleep

associated with hypersalivation

218
Q

features of juvenile myoclonic epilepsy

A

upper body after waking

219
Q

features of progressive myoclonic

A

myoclonic and tonic clonic

deterioration over time

220
Q

things to remember about anti-epileptic drugs

A

only carbamazepine needs monitoring

discontinued after 2 years no seizure

221
Q

types of generalised seizures and treatment

A

tonic clonic
absence
myoclonic
treat with valproate

222
Q

treatment of focal seizures

A

carbamazepine, lamotrigine

223
Q

SEs of carbamazepine and lamotrigine

A

carbamazepine: rash, neutropaenia
lamotrigine: SJS

224
Q

management of status epilepticus

A
  1. lorazepam IV/IO or Midazolam buccal
  2. lorazepam IV/IO
  3. Phenytoin
225
Q

features of infantile spasm (West Syndrome)

A

sudden rapid contraction of trunk and limb muscles
5-10 seconds
delay (psychomotor and growth)
hypsarrhythmia

226
Q

grades of intraventricular haemorrhage

A
  1. bleeding just into germinal matrix
  2. intraventricular bleeding (no enlargement)
  3. intraventricular bleeding with enlarged ventricles
  4. bleeding extends into brain tissue around ventricles
227
Q

features of periventricular leukomalacia (PVL)

A

bilateral multiple cysts
periventricular white matter damage
80-90% risk of spastic diplegia (CP)

228
Q

aetiology of IVH

A

changes in perfusion of delicate cellular structures in growing brain

  1. ECMO
  2. congenital CMV
229
Q

Mx of IVH

A
  • fluid resus
  • anticonvulsant
  • acetazolamide (reduce CSF)
  • ventriculo-periotoneal shunt (if hydrocephalus )
230
Q

what is communicating hydrocephalus?

A

flow of CSF obstructed after it exits ventricles
(failure to resorb CSF)
e.g. meningitis, SAH

231
Q

what is non-communicating hydrocephalus?

A

flow of CSF obstructed within ventricles = aqueduct stenosis
e.g. Chiari, IVH, tumour

232
Q

treatment of Tic

A

habit reversal therapy

ERP

233
Q

Pathophysiology of DMD

A

deletion of dystrophin gene –> connects cytoskeleton to muscle fibres to ECM
= myofibre necrosis

234
Q

what is the genetic defect in myotonic dystrophy?

A

trinucleotide repeat disorder

235
Q

what muscles does myotonic dystrophy affect?

A

smaller muscles > larger

236
Q

what is the mutation in tuberous sclerosis ?

A

TSC1 or 2

237
Q

neuro features of tuberous sclerosis

A

infantile spasm
development delay
epilepsy
intellectual disability

238
Q

what is hypermetropia?

A

can see long distance

239
Q

what is the pathophysiology of retinopathy of prematurity?

A

vascular proliferation
retinal detachment
fibrosis
blindess

240
Q

what are the RFs for SIDS

A 
front sleeping baby
prematurity
LBW
male
maternal smoking

Cross reference - year 5 (22 decks)

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