Childhood pathologies Flashcards

1
Q

Genu Varum - defintion

A

Bow legged (large gap between knees when feet are together)

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2
Q

Can genu varum be a normal finding?

A

Yes

Children less than 2

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3
Q

When to suspect that genu varum is abnormal

A

Severe (+/- 6 degrees from the mean value for that age)
Painful
Unilateral

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4
Q

Genu valgum - definition

A

Knocked knees

ankles are too Lateral

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5
Q

Can genu valgum be a normal finding?

A

Yes

Children around 3

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6
Q

When to suspect that genu valgum is abnormal?

A

Severe (+/- 6 degrees from the mean value for that age)

Painful

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7
Q

Intoeing - definition

A

When a child walks with the toes pointed inwards

AKA pigeon toe

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8
Q

Intoeing - clinical features

A

“child wears through shoes at an alarming rate”

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9
Q

Intoeing - causes

A

Internal tibial torsion
Femoral neck anteversion
Metatarsus adductus

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10
Q

Intoeing - management

A

Most resolve spontaneously

May need to put a plaster cast on

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11
Q

Flat feet - definition

A

It is normal to be born with flat feet but most people should develop a medial arch once at walking stage

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12
Q

Skeletal dysplasia - definition

A

Abnormal development of bone and connective tissue

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13
Q

Skeletal dysplasia - clinical features

A
Short stature 
Disproportionately short limbs 
Prominent forehead 
Widened nose 
Mental development normal
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14
Q

Generalised joint laxity

A

Hyper mobility of joints

“double jointed”

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15
Q

Marfans syndrome - definition

A

Mutation of fibrillin gene (gene which is required for the formation of elastin)

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16
Q

Marfans syndrome - clinical features

A

Hypermobility
Tall
Disproportionately long limbs and fingers
High arched palate

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17
Q

Duchene muscular dystrophy - definition

A

Defect in calcium transport so muscles don’t move as normal

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18
Q

Duchene muscular dystrophy - genetics

A

X-linked recessive

only affects males

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19
Q

Duchene muscular dystrophy - clinical features

A

Progressive muscle weakness
Heart failure
Respiratory failure

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20
Q

Duchene muscular dystrophy - investigations

A

Increased serum creatinine phosphokinase

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21
Q

Duchene muscular dystrophy - management

A

Physio

Splintage

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22
Q

Ehlers danlos syndrome - definition

A

Abnormal elastin and collagen formation

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23
Q

Ehlers danlos syndrome - genetics

A

autosomal dominant

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24
Q

Ehlers danlos syndrome - clinical features

A

very stretchy skin
Easy bruising
Joint hyper mobility
Dislocations

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25
Q

Ehlers danlos syndrome - management

A

Surgery

- but skin healing is poor after surgery

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26
Q

Upper motor neurone problems arise from

A

Brain

Spinal cord

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27
Q

Upper motor neurone problems result in

A

Weakness

Spasticity

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28
Q

Lower motor neurone problems arise from

A

Peripheral nerve
Nerve roots
Anterior horn

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29
Q

Lower motor neurone problems result in

A

Reduced tone

Weakness

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30
Q

Cerebral palsy - definition

A

insult to the immature brain either before, during or after birth

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31
Q

Spina bifida - definition

A

2 halves of the posterior vertebral arch fail to fuse

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32
Q

Spina bifida - mild form

A

Occulta

  • high arched foot (pes cavus)
  • clawing of toes
  • tuft of hair in skin overlying defect
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33
Q

Spina bifida - severe form

A

Cystica

- excess CSF which raises ICP

34
Q

Polio - definition

A

Viral infection which affects the motor anterior horn cells in the spinal cord or brainstem resulting in a LMN defecit

35
Q

Polio - clinical features

A

flu like illness -> paralysis of muscles -> shortening of limbs

36
Q

Syndactyly

A

2 digits fused together

37
Q

Polydactyly

A

Extra digit is formed

38
Q

Tarsal coalition

A

Fusion between 2 tarsal bones

39
Q

Erbs palsy - definition

A

Injury to the upper nerve roots during delivery of baby resulting in loss of motor innervation, deltoid, supraspinatous, biceps and brachialis muscle

40
Q

Erbs palsy - nerve roots affected

A

C5, C6

41
Q

Erbs palsy - clinical features

A

Internally rotated humerus

42
Q

Kerlumpke’s palsy - definition

A

Injury to the lower nerve roots during delivery of baby caused by forceful adduction resulting in paralysis of intrinsic hand muscles

43
Q

Kerlumpke’s palsy - nerve roots affected

A

C8-T1

44
Q

Kerlumpke’s palsy - clinical features

A

Fingers are flexed

45
Q

Talipes equinovarus - definition

A

AKA club foot

Congenital deformity of the foot due to abnormal alignment in utero

46
Q

Talipes equinovarus - clinical features

A

Varus alignment

Supination of forefoot

47
Q

DDH - definition

A

Developmental dysplasia of the hip

Dislocation or subluxation of the femoral head which affects the subsequent development of the hip

48
Q

DDH - who gets it

A

More common in girls

Immediately before or after birth

49
Q

DDH - Which hip (left or right) is more commonly affected?

A

Left

50
Q

DDH - risk factors

A

First born babies
FHx
Breech position in utero

51
Q

DDH - clinical features/examination

A

Look: shortening, asymmetric skin creases
Feel: clink/clunk on specific manoeuvres (barlow test, ortolani test)
Move: affected hip abducts more

52
Q

DDH - investigations

A

Ultrasound - detect dislocated or unstable hip

53
Q

DDH - management

A

Pavlik harness - if diagnosed early enough

Open reduction - open hip and release soft tissues

54
Q

Transient synovitis - definition

A

Inflammation of the synovium of the hip joint

55
Q

Transient synovitis - who gets it

A

Age: 2-10

more common in boys

56
Q

Transient synovitis - risk factors

A

Previous URTI

57
Q

Transient synovitis - clinical features

A
Patient with a limp 
Reluctance to weight bear on affected side
Hip pain
Restricted range of motion 
No signs of infection
58
Q

Transient synovitis - investigations

A

Must exclude other serious potential conditions
Bloods - CRP (should be normal)
US - effusion

59
Q

Transient synovitis - management

A

NSAIDs and rest

60
Q

Perthes - definition

A

Osteochondritis of the femoral head.

Femoral head looses its blood supply resulting in AVN with subsequent abnormal growth

61
Q

Perthes - who gets it

A

Children aged 4-9
Boys more than girls
Children who are very active
Children with short stature

62
Q

Perthes - clinical features

A

Pain
Loss of internal rotation of the hip
Loss of abduction

63
Q

Perthes - investigations

A

+ve Trendelenburg test

X-ray

64
Q

Perthes - management

A

Avoid physical activity

65
Q

SUFE - definition

A

Slipped Upper Femoral Epiphysis
Femoral head epiphysis slips inferiorly in relation to the femoral neck
Growth plate is not strong enough to support body weight

66
Q

SUFE - who gets it

A

age 10-16 (adolescents going through puberty)
more common in boys
Obesity

67
Q

SUFE - clinical features

A

Pain in the knee (due to the obturator nerve)
Pain in the groin area
Can’t weight bear
Loss of internal rotation of the hip

68
Q

SUFE - investigations

A

X-ray (lateral x-ray)

69
Q

SUFE - management

A

Urgent surgery to pin the femoral head to prevent further slippage

70
Q

SUFE - complications

A

Avascular necrosis

71
Q

Skeletal dysplasia - genetics

A

Achondroplasia

72
Q

Generalised joint laxity - genetics

A

Autosomal dominant

73
Q

Cerebral palsy - causes

A
Intrauterine infection
Genetic problems
Brain malformation 
Prematurity 
Intra-cranial haemorrhage 
Hypoxia during birth
74
Q

Cerebral palsy - monoplegic

A

One limb affected

75
Q

Cerebral palsy - hemiplegic

A

One ipsilateral upper and lower limb affected

76
Q

Cerebral palsy - diplegic

A

Both legs affected

77
Q

Cerebral palsy - clinical features

A

Delayed developmental milestones
Scolisosis
Hip dislocations

78
Q

Cerebral palsy - management

A
Physio
Splintage 
Balcofen
Botox injection to spastic muscles 
Surgery
79
Q

Cerebral palsy - spastic

A

Most common

Injurry to motor cortex, UMN or corticospinal tract

80
Q

Cerebral palsy - ataxic

A

Affects cerebellum so coordination and balance are affected

81
Q

Duchene muscular dystrophy - what sign is common in patients

A

Gower’s sign (patient walks hands up their body)