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PHASE 3A > PAEDS - genetics, infectious diseases > Flashcards

PAEDS - genetics, infectious diseases Flashcards

1
Q

what is turner’s syndrome?
how is it denoted?

A
  • affects females
  • presence of only one X chromosome
  • 45, XO or 45, X
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2
Q

what causes turner’s?

A

a nondisjunction/sporadic mutation meaning there is only 1 or a partially missing X chromosome

NOT INHERITED

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3
Q

RFs for Turner’s

A

no known RFs

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4
Q

features of Turner’s and some associated conditions (3)

A
  • primary amenorrhoea
  • short stature
  • widely spaced nipples
  • webbed neck
  • high arched palate

other = short 4th metacarpal, hypothyroidism, horseshoe kidney, heart defects

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5
Q

what is the most common renal abnormality associated with turner’s?

A

horseshoe kidney

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6
Q

what heart defect is associated with turner’s?

A

bicuspid aortic valve (most common)

coarctation less common

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7
Q

when may Turner’s be identified? how?

A
  • suspected on prenatal USS (horseshoe kidney)
  • if suspected can do amniocentesis/chorionic villus sampling
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8
Q

postnatal investigations for turner’s

1st line and GS

A

1st = bloods - raised FSH/LH (due to ovarian insufficiency)

GS = karyotyping

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9
Q

why is there high levels of FSH and LH in turner’s?

A

ovarian failure > no negative feedback from oestrogen > FSH and LH continue to rise

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10
Q

once a diagnosis of Turner’s has been made, what investigations can be done to check for other problems? (4)

A
  1. echo
  2. renal tract USS (renal tract)
  3. pelvis USS (ovaries)
  4. DEXA scan
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11
Q

ddx for Turner’s

A

William’s
gonadotropin deficiency e.g. Kallman’s

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12
Q

management of Turner’s including medications

A
  1. MDT
  2. hormone replacement therapy
    - oestrogen
    - progesterone
    - growth hormone
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13
Q

when would oestogren and progesterone be started and stopped in a patient with Turner’s?

A
  • started at age 11
  • stopped around 50
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14
Q

main complication of Turner’s

what are two other complications?

A

main = aortic dilatation and dissection

other = autoimmune thyroiditis, Crohn’s

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15
Q

what is William’s syndrome?

A

a neurodevelopmental disorder caused by a microdeletion on chromosome 7

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16
Q

cause of William’s

A

random deletion around conception (NOT inherited)

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17
Q

signs and symptoms of William’s

A
  1. starburst eyes
  2. short stature
  3. long philtrum (upper lip)
  4. very sociable, trusting
  5. mild learning disability
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18
Q

what metabolic change is William’s associated with after birth?

A

transient neonatal hypercalcemia

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19
Q

which heart defect is William’s associated with?

A

supravalvular aortic stenosis

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20
Q

gold std investigation for William’s

A

genetic testing (FISH)

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21
Q

ddx for Williams

A
  1. Turner’s
  2. ADHD
  3. Noonan syndrome
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22
Q

management for Williams (3)

A
  1. MDT
  2. monitor with echos, BP
  3. low calcium diet and avoid calcium supplements
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23
Q

4 associated conditions with Williams

A
  1. supravalvular aortic stenosis
  2. ADHD
  3. HTN
  4. hypercalcemia
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24
Q

what causes kawasaki’s

A

a type of medium vessel vasculitis

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25
Q

when does kawasaki disease most commonly present

A

<5

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26
Q

who is kawasaki disease more prominent in

A

Japanese and Afro-Caribbean children

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27
Q

signs and symptoms of kawasaki disease

A

CRASH AND BURN

C - conjunctivitis
R - rash
A - adenopathy (swollen glands)
S - strawberry tongue
H - hands: palmar erythema and swelling

HIGH FEVER (39) >5 days (resistant to antipyretics)

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28
Q

investigations for kawasaki

A

clinical diagnosis but must do ECHO for aortic aneurysm

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29
Q

complication of kawasaki disease

A

coronary artery aneurysm

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30
Q

ddx for kawasaki

A

scarlet fever

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31
Q

management of kawasaki disease

A
  1. high dose aspirin
  2. IV immunoglobulins

NOTIFIABLE DISEASE

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32
Q

what causes measles?

A

RNA paramyxovirus

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33
Q

when is measles infectious

A

from when sx first appear to four days after onset of rash

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34
Q

measles was common prior to… why?

A

1968 - MMR vaccine intro

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35
Q

RFs for measles (3)

A
  1. unvaccinated
  2. immunosuppression
  3. recent contact w infected person
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36
Q

presentation of measles

A
  1. prodrome lasting a few days - fever, coryzal
  2. koplik spots in mouth (red/white)
  3. maculopapular erythematous rash starting from behind ears and descending to rest of body
  4. fever >39
37
Q

investigations for measles

A

contact health protection team

they will send oral fluid testing kit for IgM/IgG and/or viral RNA testing

38
Q

management of measles

how long should the child be off school?

A
  1. notify PHE
  2. self-limiting disease so supportive management
  3. off school for 4 days from onset of rash
39
Q

complications of measles - what’s most common?

A

most common = otitis media

others - pneumonia, encephalitis, febrile convulsions, myocarditis

40
Q

what causes rubella

A

togavirus

41
Q

RFs for rubella (2)

A
  1. unvaccinated/unclear imms hx
  2. developing countries
42
Q

presentation of rubella

A
  1. prodrome - low grade fever which resolves
  2. then RASH - beings in face, spreads down body
  3. palatal petechiae
  4. lymphadenopathy - suboccipital and postauricular

general = headache, sore throat

43
Q

investigations for rubella

A
  • normally clinical
  • if need to confirm then bloods (IgM) and viral PCR
44
Q

management of rubella

how long should the child be kept off school?

A
  1. notifiable disease!
  2. supportive tx

off school until at least 5 days after rash onset

45
Q

what causes chickenpox

A

varicella zoster virus

46
Q

what is chickenpox?

A

a primary varicella zoster infection

47
Q

presentation of chickenpox

A
  1. RASH
    - starting on trunk/face and spreading all over
    - widespread, erythematous, raised, vesicular blistering lesions
    - itchy
  2. fever
  3. general fatigue/malaise
48
Q

what is the life cycle of the rash in chicken pox?

A

macular > papular > vesicular > crusted

49
Q

management of chickenpox in <14

when should children stay off school until?

A

self-limiting…
1. trim nails
2. calamine lotion
3. consider antihistamine e.g. chlorpheniramine

off school until all lesions crusted

50
Q

prophylactic tx of chickenpox in immunocompromised/newborns with peripartum exposure

A

varicella zoster immunoglobulins (VZIG)

51
Q

management of chickenpox in immunocompromised/children >14

A

acyclovir

52
Q

what med shouldnt be given in chicken pox? why

A

NSAIDs - risk of necrotising fasciitis

53
Q

what is molloscum contagiosum caused by?

A

MCV - molloscum contagiosum pox virus

54
Q

incubation period of molloscum contagiosum

A

2-8 weeks

55
Q

presentation of molloscum contagiosum

A
  1. firm, smooth papules with small depression in centre (umbilicated), white/pink/brown
  2. in moist areas - armpit, groin, genitals
56
Q

management of molloscum contagiosum

when does it resolve?

A

self-limiting - can use emollient/mild topical steroid for itching

resolves by itself in 18 months

57
Q

causative agent of roseola infantum

A

human herpes virus 6

58
Q

congenital heart defect in fragile X

A

mitral valve prolapse

59
Q

fragile x

  • what mutation
  • who
A
  • FMR1 gene
  • males
60
Q

presentation of fragile X (6)

A
  1. delay in S&L development, cognitive difficulties
  2. long, thin face
  3. big ears
  4. autism, ADHD
  5. microorchidism
  6. hypermobile joints
61
Q

Edward’s syndrome is trisomy…

A

18 (three copies of chromosome 18 rather than two)

62
Q

pathophys and prognosis of

a) full edward’s syndrome
b) mosaic edward’s
c) partial edward’s

A

a) extra chromosome 18 present in all cells, v severe and often die before born

b) extra chromosome 18 in just some cells, most babies live for a year

c) only a section of the extra chromosome 18 is in cells, least severe

63
Q

presentation of edward’s syndrome

A
  1. micrognathia (jaw undersized)
  2. low-set ears
  3. ROCKER-BOTTOM FEET
  4. overlapping fingers
64
Q

results of HcG and PAPP-A bloods in screening for edward’s

A

high beta-HCG, low PAPP-A

65
Q

features of down’s syndrome (8)

A
  1. short stature and neck
  2. prominent epicanthal folds
  3. upward sloping parebral fissures
  4. single palmar crease
  5. bradycephaly (small head with a flattened back)
  6. hypotonia
  7. conductive hearing loss/cataracts
  8. flattened nose bridge
66
Q

screening for DS
a) first-line tests, when and what do they involve?

b) results in DS

A

a) combo triple test
- 11-13 weeks gestation
- USS for nuchal translucency, maternal bloods for beta-HcG and pregnancy-associated-plasma-protein-A (PAPP)

quadruple test
- 14-20 weeks gestation
- maternal bloods: beta-HcG, AFP, serum oestriol, inhibin A

b) triple test - thickened nuchal (>6mm), high HcG, low PAPP

quad test - high HcG, low AFP, low oestriol, high inhibin A

67
Q

GS antenatal screening for DS - when is this done?

A

only if risk score is greater than 1 in 150!

amniocentesis (AF biopsy) or chorionic villus (placental biopsy)

68
Q

GS postnatal test for DS

A

bloods: QF-PCR test and G-banded analysis

69
Q

cardiac cx in DS (2)

A
  1. tetralogy of fallot
  2. VSD/ASD/AVSD
70
Q

later life complications of DS (4)

A
  1. subfertility
  2. ALL
  3. hypothyroidism
  4. Alzheimer’s
71
Q

causes of SJS

A
  1. NSAIDs
  2. allopurinol
  3. anti-epileptics e.g. carbamazepine, phenytoin, lamotrigine
  4. antibiotics e.g. penicillin
72
Q

signs and symptoms of SJS

A

following starting a new medication…

  1. early flu-like sx
  2. RASH - red/purple, peeling, blistering
  3. MUCOSAL involvement - eyes, lips, mouth, pharynx, oesophagus, GI tract, kidneys….
    - corneal ulceration, uveitis, blepharitis
    - oesophageal strictures
    - vaginal stenosis, penile scarring
73
Q

what sign is positive in SJS and SSSS?

A

Nikolsky’s sign - epidermal layer sloughs off when pressure applied

74
Q

diagnostic ix for SJS and result

A

skin biopsy - keratinocyte apoptosis

75
Q

management of SJS

A
  1. STOP causative drug
  2. transfer to burn centre/wound care
  3. conservative care - wound care, analgesia, fluids, nutrition
76
Q

what organism causes scalded skin syndrome?

A

staph aureus

77
Q

examples of infections preceding staph scalded skin syndrome?

A
  • nappy rash
  • impetigo
  • cellulitis
  • eye infection
78
Q

pathophys of SSSS

A
  1. staph aureus produce epidermolytic toxins
  2. these toxins break down proteins holding skin together
79
Q

presentation of SSSS

A

RECENT INFECTION…

  1. initially miserable, lethargic, fever
  2. tissue-paper skin with wrinkling
  3. then bullae in groin, armpits, orifices
  4. painful widespread rash resembling burn/scald
80
Q

management of SSSS

A
  1. IV fluids
  2. systemic IV abx
81
Q

which CHD is most associated with noonan syndrome?

A

pulmonary stenosis

82
Q

patau syndrome is trisomy…

A

13

83
Q

RF for patau syndrome

A

advanced maternal age

84
Q

signs and symptoms of patau syndrome in utero

A

IUGR

85
Q

signs and symptoms of patau syndrome at birth

A
  1. cleft lip and palate
  2. microphthalmia (small eyes)
  3. microcephaly
  4. polydactyly
  5. ear malformations, deafness
86
Q

prognosis of patau syndrome

A

poor - unlikely to survive first few days of life

87
Q

ddx of patau syndrome

A

edward’s syndrome (can both present with rocker bottom feet)

88
Q

presentation of prader-willi syndrome

A
  • obesity (constant insatiable hunger)
  • hypotonia
  • hypogonadism

PHASE 3A (18 decks)

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