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Year 2 MSK > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

Osteogenesis imperfecta

A

Autosomal dominant.

Brittle bone disease, defect in maturation and organisation of type 1 collagen.

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2
Q

Brittle bone disease presentation

A

Multiple fractures in early childhood, short stature with multiple deformities, blue sclerae and loss of hearing.

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3
Q

Skeletal dysplasia

dwarfism

A

Cover a wide range of disorders resulting in abnormal bone and connective tissue development.

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4
Q

Commonest skeletal dysplasia

A

Achondroplasia

Short limbs prominent forehead flattened nose but normal mental development.

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5
Q

Achondroplasia cause

A

Autosomal dominant but over 80% are sporadic.

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6
Q

Generalised joint laxity.

A

5% of population and usually hereditary dominant.

Prone to soft tissue injury e.g sprains dislocations.

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7
Q

Marfans syndrome

A

Sporadic or autosomal dominant mutation of the fibrillin gene.

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8
Q

Marfans presentation

A

High arched palate
Scoiliosis
Long limbs
Pectus excavatum

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9
Q

Marfans issues

A

Lens and retinal detachment.
Spontaneous pneumothorax.
Aortic aneurysms dissection or regurgitation other cardiac valve incompetence.

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10
Q

Ehlers-Danlos syndrome

A

Heterogenous autosomal dominant abnormal elastin and collagen formation.

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11
Q

Ehlers-danlos symptoms

A

Profound hyper-mobility vascular fragility easy bruising and bleeding, scoliosis is also common.

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12
Q

Ehlers Danilo syndrome treatment.

A

Bony surgery may be required for dislocation but easy bleeding and poor wound healing can be contraindications.

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13
Q

Duchenne muscular dystrophy.

A

Defect in dystrophin gene resulting in faulty Ca 2+ transport.
X-linked

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14
Q

Duchenne appearance.

A

Late progression to walking, difficulty standing has to use hands and shuffle up.

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15
Q

Duchenne prognosis

A

Unable to walk by 10 and by 20 respiratory and cardiac failure is common.

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16
Q

Duchennes diagnosis

A

Raised serum creatinine phosphokinase and abnormal muscle biopsy.

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17
Q

Duchennes treatment

A

Physiotherapy splint age may prolong mobility.

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18
Q

Cerebral palsy

A

Neuromuscular disorder with onset before 2-3 years old, due to insult to immature brain before during or after childbirth.

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19
Q

Cerebral palsy causes.

A

Genetic issues, brain malformation, early pregnancy, hypoxia during birth, meningitis.

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20
Q

How many cases are due to issues during childbirth.

A

1 in 10

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21
Q

Syndactyly

A

Two digits are fused together due failure of apoptosis.

Surgery may be required often left.

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22
Q

Polydactyly

A

Extra digit is formed often removed.

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23
Q

Fibular hemimelia

A

Partial or complete absence of fibula.
Shortened limb or bowing of the line along with ankle issues.
Severe often result on leg amputation below the knee,

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24
Q

Types of obstetric brachial plexus palsy

A

Erbs and Klumpkes palsy

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25
Q

What nerve roots are damaged in Erbs palsy

A

C5 C6

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26
Q

Erbs palsy appearance

A

Internal rotation of humerus

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27
Q

What muscles are paralysed in erbs palsy

A

Deltoid, supraspinatus, infraspinatus, biceps and brachialis.

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28
Q

Erbs palsy prognosis

A

With physiotherapy 80-90% get return of function

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29
Q

What nerve roots are affected in Klumpkes palsy.

A

Injury C8 and T1 roots

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30
Q

Klumpkes palsy

A

Due to forced adduction leading to paralysis off hand muscles.

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31
Q

Klumpkes appearance

A

Wrist and fingers flexed.

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32
Q

Klumpkes prognosis

A

Less than 50% recovered no specific treatment.

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33
Q

When should the child sit alone and crawl?

A

6-9 months

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34
Q

Child able to stand?

A

8-12 months

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35
Q

Child starts to walk

A

14-17 months

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36
Q

Child able to jump

A

24 months

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37
Q

Child manages stairs independently

A

3 years

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38
Q

Loss of primitive reflexs

A

1-6 months

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39
Q

Head control

A

2 months

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40
Q

Speaks a few words

A

9-12 months

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41
Q

Eats with fingers/uses a spoon

A

14 months

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42
Q

Stacks four blocks

A

18 months

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43
Q

Understands 200 can learn 10 words a day

A

18-20 months

44
Q

Potty trained

A

2-3 years

45
Q

What is the orientation of children legs at birth?

A

Usually Varus knees

46
Q

What is the physiologic position of knees

A

Usually 6 degrees valgus

47
Q

Causes of pathenogenic Genu valgum?

A

Rickets, tumours, skeletal dysplasia, neurofibromatosis

48
Q

Causes of pathenogenic Genu varus?

A

Rickets osteochondroma traumatic physeal injury and skeletal dysplasia

49
Q

What surgery is used in Genu Varum or Varus?

A

Osteotomy

50
Q

What is blounts disease?

A

Medial tibial physic growth arrest

51
Q

What sign on X-ray is found in blounts disease?

A

Beak like protrusion

52
Q

What is in-toeing?

A

Feet that point towards the midline

53
Q

When is in-toeing most visible?

A

When the child is running.

54
Q

What do parents often say when they present their child?

A

Clumsy and wear through shoes very fast.

55
Q

What are the three causes of in-toeing?

A

Femoral neck anteversion
Internal tibial torsion
Metatarsus adduction

56
Q

Femoral neck anterversion

A

Femoral neck is excessively anteverted (pointing forwards)

57
Q

Common signs of femoral neck anteversion.

A

Lots of internal rotation and minimal external.

Sits in W position

58
Q

What is treatment in femoral neck anteversion?

A

NO indication for surgery.

Simply reassure and chart progress.

59
Q

In what demographic is internal tibial rotation common?

A

Toddlers 1-3 years

Usually self resolved by 6

60
Q

Metatarsus adduction

A

Causes apparent in-toeing.
Most are self resolving
Serial casting is used in non resolving cases

61
Q

Are flat feet part of normal variation?

A

Yes they usually have no underlying pathology and has no real functional issues.

62
Q

What are they two types of flat feet?

A

Flexible and fixed

63
Q

What is the cause of flexible flat feet?

A

Ligamentous laxity

Familial or idiopathic

64
Q

How can you test for flexible flat feet?

A

Jack Test

When patient stands on tiptoes the medial arch develops

65
Q

In adults what can cause flexible flat feet?

A

Tibialis posterior tendon dysfunction

66
Q

What causes fixed flat feet?

A

Abnormal tarsal coalition of bones.

Cartilaginous joints between bones

67
Q

How many adults have flat feet?

A

1 in 5

68
Q

What is cavus feet?

A

A high arching foot with clawed toes

69
Q

What is the worry with cavus feet?

A

Can indicate underlying neurological disorder

70
Q

Culry toes

A

Idiopathic and generally asymptomatic curling of toes.

71
Q

When is surgery indicated in curly toes?

A

Persistence in adolescents as most cases are self-resolving.

72
Q

What is the surgery in curly toes?

A

Cut 1 of the two flexor tendons

73
Q

What is the F:M proportion and which hip is more commonly affected in developmental dysplasia?

A

8:1
Left more than right
5 in 1000 babies

74
Q

In which ethnic group us there a higher incidence?

A

Native american

75
Q

In which ethnic group is there a reduced incidence?

A

African

76
Q

Risk Factors for developmental dysplasia

A 
Family History
Breech presentation
First born babies
Down syndrome
>4kg birth weight
77
Q

Why are women more affected?

A

Women have receptors for relaxin even as neonate.
In late stages of pregnancy the mother releases this to allow easier passage of baby out.
However this loosened the tendons holding head of femur in place.

78
Q

What is developmental dysplasia of the hip?

A

A very shallow acetabulum as a result of defective hip joint development.
Sever cases a false acetabulum can occur proximal to original.

79
Q

What can happen if developmental dysplasia is undetected?

A

Severe arthritis and gait/mobility is severely affected.

80
Q

What gait is developed in late Developmental dysplasia?

A

Trendelburgs gait

81
Q

What are clinical signs looked for in developmental dysplasia?

A

Asymmetry in leg length
loss of knee height
Crease asymmetry in nappy fold
Less abduction

82
Q

What are the two tests used for developmental dysplasia?

A

Barlows test- adduction with downwards pressure.
Ortolani - Abduction with upwards lift
- clunk sound

83
Q

If barlows and Ortolani tests are positive what is the next step?

A

Ultrasound is used as doesn’t scare the child and X ray will not be able to identify non ossified femoral head.

84
Q

What is key to success in developmental dysplasia?

A

Early diagnosis

85
Q

What is treatment for children under 18 months with unstable hips?

A

Pavlik Harness - worn 23-24 hours a day for 12 weeks

86
Q

What is the success rate of a pavlik harness?

A

85-95%

87
Q

What is treatment for children with persistently dislocating hips over 18 months?

A

Open surgery reduction

88
Q

Why is a bilateral developmental dysplasia worse?

A

Cant compare hips so many of clinical signs look symmetrical so ‘normal’.
So later stage detection = worse symptoms

89
Q

In children over 18 moths what is modality of choice for looking at the hip?

A

X-ray as the femoral head has ossified

90
Q

Transient synovitis of the hip

A

Self limiting inflammation of hip

91
Q

What is the history linked to transient synovitis?

A

An upper respiratory viral infection prior to presentation

92
Q

Signs of transient synovitis

A

Hip lies flexed and externally rotated
Pain at end range of movement
Systemically well

93
Q

What is used to diagnose transient synovitis?

A

Ultrasound and aspiration of the joint

94
Q

In diagnosing transient synovitis what more serious conditions need to be disproved?

A

Septic or juvenile rheumatoid arthritis, aswell as Perthes disease.

95
Q

What is Perthes disease?

A

Idiopathic avascular necrosis of the femoral head.

96
Q

Who is Perthes disease more common in?

A

5x more men

4-9 year olds

97
Q

What is the progression of Perthes disease?

A

Transient loss of blood supply.
Femoral head begins to undergo necrosis.
Femoral head can collapse or fracture.
Subsequent remodelling results un early arthritis.

98
Q

Clinical signs of Perthes disease

A

Pain and limp and loss of internal flexion.

Late presentations will show gluteal wasting and +ve trendellenburgs test.

99
Q

Perthes treatmnet

A

No treatment, simply observation using X-ray and avoidance of physical activity.
Severe arthritis as a result may require hip replacement.

100
Q

SUFE

A

Slipped Upper Femoral Epiphysis

101
Q

Who does SUFE usually affect?

A

Overweight pre-pubertal post growth-spurt boys aged 8-10

Girls less commen

102
Q

What is SUFE?

A

The physis is unable to support the weight and the femoral epiphysis slips as a result.

103
Q

How does SUFE present?

A

Groin hip or knee pain, present with antalgic gait.
Loss of internal rotation.
Affected limb may be shorter and lie externally rotated.

104
Q

What X-ray orientation gives the best view?

A

Laterally is most likely to show degrees of slip.

LOOK FOR MELTED ICE CREAM ON A CONE!!

105
Q

Treatment for SUFE

A

Urgent surgery
Severe acute can undergo gentle manipulation but total hip replacement may be required.
Pinning the femoral head is used if a blood supply has been preserved.

Year 2 MSK (19 decks)

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