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MSK > paediatrics- CORTEX > Flashcards

paediatrics- CORTEX Flashcards

1
Q

whats another name for osteogenesis imperfecta?

A

brittle bones disease

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2
Q

what is the aetiology of osteogenica imperfecta/ brittle bones disease?

A

-there is a defect of the maturation and organisation
of type 1 collagen

-autosomal dominant condition

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3
Q

how does osteogenesis imperfect present?

A
  • multiple fragility fractures in childhood
  • short stature (below average height)
  • blue sclerae (blueish colour in white of eyes)
  • loss of hearing
  • bone deformities such as bow legs and scolosis
  • hypermobility
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4
Q

how is osteogenesis imperfecta diagnosed?

A
  • history of low energy fractures

- thin cortices and osteopenic (loss of mass) appearing bones on Xrays

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5
Q

what is the management for osteogenesis imprefecta?

A
  • treat fractures with splinatge, traction or surgical stabilisation
  • may need intramedullary stabilisation in progressive cases
  • medical treatment including bisphosphonates and vit D supplements
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6
Q

what is a type of skeletal dysplasia?

A

dwarfism

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7
Q

what is skeletal dysplasia?

A

dwarfism

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8
Q

how many types of skeletal dysplasia (dwarfism) are there?

A

more than 300 types

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9
Q

what is the most common type of skeletal dysplasia?

A

achondroplasia (short limbed dwarfism)

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10
Q

is achondroplasia autosomal recessive or dominant?

A

dominant

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11
Q

what does osteogenesis imperfect affect?

A

type 1 collagen of bone

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12
Q

what is generalised (familial) joint laxity?

A

hyper mobility

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13
Q

what are people with generalised (familial) joint laxity more prone to?

A
  • soft tissue injuries (ankle sprains)

- recurrent dislocation of joints

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14
Q

what is Marfans syndrome?

A

-autosomal dominant mutation of the fibrillar gene resulting in disorder collagen synthesis

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15
Q

how does Marfans present?

A
  • tall stature
  • long limbs
  • ligamentous laxity
  • high arched palate
  • flattening of chest
  • lens discolouration
  • aortic dissection
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16
Q

what are common complications associated with Marfans?

A 
Mitral valve prolapse
Aortic dissection
Retinal detachment
Fibrillar-1- mutation
Arachnodactyly
Near sightedness
Scoliosis
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17
Q

management for Marfans?

A

minimise BP and HR (lifestyle and possibly preventative meds such as beta blockers)

physioooo

yearly ECHO

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18
Q

what is Ehlers Danlos syndrome?

A

autosomal dominant disorder of abnormal elastin and collagen formation

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19
Q

what is the presentation of Ehlers Danlos

A
  • profound hypermobility
  • vascular fragility
  • easy bruising
  • joint instability
  • scoliosis
  • soft stretchy skin
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20
Q

how is Ehlers Danlos diagnosed?

A

-beighton score for hyper mobility (9 point score)

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21
Q

what is Trisomy 21?

A

downsyndrome

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22
Q

what is Duchenne muscular dystrophy?

A

-a defect in dystrophin gene involved in calcium transport results in muscle weakness

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23
Q

what is the presentation of Duchenne Muscular dystrophy?

A
  • progressive muscle weakness

- Gowers sign positive

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24
Q

how is Duchenne Muscular dystrophy diagnosed?

A

-raised serum creatine phosphokinase and abnormalities on muscle biopsy

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25
Q

what is the management for Duchenne Muscular dystrophy?

A
  • physio
  • splintage
  • deformity correction
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26
Q

what is cerebral palsy?

A

-a group of neuromuscular disorders that affects movement and co ordination. It’s caused by a problem with the brain that develops before, during or soon after birth

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27
Q

what are the different types of cerebral palsy?

A
  • spastic diplegia/diparesis (most common)
  • spastic hemiplegia/ hemiparesis
  • spastic quadriplegia/quadriparesis
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28
Q

what is spina bifida?

A

-a congenital disorder where the two halves of the posterior vertebral arch fail to fuse, probably in the first six weeks of gestation

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29
Q

how may mild vs severe spina bifida present?

A

mild= spina bifida occulta- can develop tethering of the spinal cord and roots which can cause high arched foot (per caves)

severe= spina bifida cystica- the contents of the vertebral canal herniate through the defect with either herniation of the meninges alone or with the spinal cord or caudal equine

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30
Q

what is polio?

A

-a viral infection which affects motor anterior horn cells in the spinal cord or brainstem resulting in a lower motor neurone deficit

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31
Q

what age should baby be able to sit alone/crawl?

A

6-9 months

32
Q

what age should a baby be able to stand?

A

8-12months

33
Q

what age should a baby be able to walk?

A

14-17 months

34
Q

what age should a baby be able to jump?

A

24 months

35
Q

at what age should a baby be able to manage stairs independently?

A

age 3

36
Q

what age should a baby lose their primitive flexes ? (grasp reflex, moro reflex, stepping reflex)

A

1-6 months

37
Q

what age should a baby develop head control?

A

2 months

38
Q

what age should a baby be able to speak a few words ?

A

9-12 months

39
Q

what age should a baby be able to eat with fingers and use a spoon?

A

14 months

40
Q

what age should a baby be able to stack four blocks?

A

18 months

41
Q

what age should a baby be able to understand 200 words/ learn around 10 words per day?

A

18-20 months

42
Q

what age should a baby be potty trained?

A

2-3 years

43
Q

progression of babies knees?

A

born- varus knees
14 months- naturally align
3 years- 10 to 15 degrees valgus
7 to 9 years - 6 degrees valgus

44
Q

what is Blount’s disease?

A

-a growth disorder of the medial proximal tibial physis causing excessive gene varum

45
Q

what are pathological causes of gene valgum?

A
  • rickets
  • tumours
  • trauma
  • neurofibromatosis
  • idiopathic
46
Q

what is in toeing?

A

-refers to a child who, when walking and standing will have feet point toward the midline

47
Q

what is femoral neck ante version?

A

-a part of the normal anatomy, the femoral neck is slightly anteverted (points forwards), excess femoral neck anterversion can give impression of in toeing and knock knees

48
Q

what is developmental dysplasia of the hip? (DDH)

A

-structural abnormality of the hip caused by abnormal development of fatal bones during pregnancy

49
Q

what are risk factors of developing DDH?

A
  • breech presentation
  • first born
  • Down syndrome
  • girls more affected than boys
50
Q

what is the presentation of DDH?

A

-shortening, asymmetric groin/thigh skin creases, a clink or a clunk on Ortolani or Barlow manoeuvres

51
Q

how is DDH diagnosed?

A

-USS before 4.5 months

52
Q

what is the management for DDH?

A

Pavlick Harness (if older than 4 month may need surgery)

53
Q

who does DDH normally effect?

A

0-2 years

54
Q

who does transient synovitis of hip normally affect?

A

0-10 years

55
Q

what is transient synovitis?

A

-a self limiting inflammation to the synovium of a joint. Often occurring after a upper respiratory tract infection

56
Q

how did transient synovitis present?

A
  • no fever
  • acute limp
  • hip pain
  • low grade temp
57
Q

how is transient synovitis?

A

-rule out more serious pathology

58
Q

what is the management for transient synovitis?

A

-conservative with follow up safety netting

59
Q

how old are typical patients with Perthes?

A

4-9 years

60
Q

what is perthes?

A

-idiopathic osteochondritis of the femoral head causing AVN of the bone

61
Q

how is Perthes diagnosed?

A

X ray can show joint space widening

62
Q

what is the management plan for Perthes disease?

A

<6 years: observation with bed rest, traction, crutches

Older or severe- surgery

63
Q
A

Ponseti technique

64
Q
A

false

65
Q
A

14-17 months

66
Q
A

QUESTION 4

67
Q
A

3 years

68
Q
A

Osgood-Schlatter’s disease

69
Q
A

uncontrolled writhing motion, sudden changes in tone and difficulties controlling speech

70
Q
A

True

71
Q
A

underlying ligamentous laxity

72
Q
A

Ehler Danlos

73
Q
A

Motor neurons are affected, typically manifesting as weakness of a group of muscles within a single limb

74
Q
A

False

75
Q
A

True

76
Q
A

True

77
Q
A

pain is worse on coughing

MSK (64 decks)

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