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MSK > CORTEXT: Paeds > Flashcards

CORTEXT: Paeds Flashcards

1
Q

what is the colloquial name for osteogenesis imperfecta?

A

brittle bone disease

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2
Q

What is osteogenesis imperfecta?

A

defect of the maturation and organisation of type 1 collagen- most of hte organic composition of bone

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3
Q

What is the type of genetic mutation that generally causes osteogenesis imperfect?

A

autosomal dominant

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4
Q

How does osteogenesiss imperfecta present?

A

mulitple fragility fractures of childhood, short stature with multiple deformities, blue sclera and loss of hearing

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5
Q

What is significant by osteogenesis imperfecta caused by an autosomal recessive defect?

A

either fatal in the peri-natal period or associated with spinal deformity

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6
Q

What do bones in osteogensis imperfecta tend to be like?

A

thin (gracile) with thin cortices and osteopenic

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7
Q

What is skeletal dysplasia?

A

short stature (dwarfism is no longer used) caused by abnormal development of bone and connective tissue

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8
Q

What does achondroplasia result in?

A

disproportionately short limbs with a prominent forehead and widened nose. joints are lax and mental development is normal

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9
Q

What type of collagen is found in bone, tendon and ligaments?

A

type 1

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10
Q

what is marfans syndrom?

A

a mutation in the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity

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11
Q

What are hte associated features with marfans syndrome?

A

high arched palate, scoliosis, flattening of the chest- pectus excavatum, eye problems, aortic aneurym and cardiac valve incompetence

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12
Q

What are the clinical features of Ehlers-Danlos syndrome?

A

profound joint hypermobility, vascular fragility with ease of bruising, joint instability, and scoliosis.

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13
Q

What are the MSK features of Down syndrome?

A

short stature, joint laxity with possible recurrent dislocation and atlanto-axial instability

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14
Q

What is the normal genetic type for muscular dystrophies?

A

X-linked

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15
Q

What causes muscle weakness in duchenne muscular dystrophy?

A

a defect in the dystrophin gene involved in calcium transport

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16
Q

What causes death in boys with DMD?

A

progressive cardiac and respiratory failure

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17
Q

How is duchennes diagnosed?

A

raised serum creatinine phosphokinase and abnormalities on muscle biopsy

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18
Q

What is Beckers muscular dystrophy?

A

similar to DMD but milder and affected boys are able to walk into their teens and survive into their 30s and 40s (compared with early 20s with DMD)

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19
Q

What are the signs of an upper motor neuron lesion?

A

weakness, spasticity, hyperreflexia and an extensor plantar response

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20
Q

What are the signs of a LMN lesion?

A

weakness, reduced tone and hypo- or areflexia

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21
Q

What are the causes of cerebral palsy?

A

genetic problems; brain malformation; intrauterine infection in early pregnancy; prematurity; intra-cranial haemorrhage; hypoxia during birth and meningitis

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22
Q

What are the MSK problems that can develop with CP?

A

joint contractures, scoliosis and hip dislocation

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23
Q

What are hte non-surgical treatments for cP?

A

PT; splintage; baclofen and botox- to reduce spasticity

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24
Q

What is spina bifida?

A

a congential disorder where the two halves of the posterior vertberal arch fail to fuse, probably in the first 6 weeks of gestation

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25
Q

What is the mildest form of spina bifida?

A

spina bifida occulta

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26
Q

What are the 2 types of spina bifida cystica?

A

meningocele or myelomeningocele

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27
Q

What is poliomyelitis?

A

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

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28
Q

How does the polio virus enter the body?

A

via the GI tract

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29
Q

What are the early signs of polio?

A

a flu-like illness and a variable degree of paralysis usually affecting a group of muscles of one limb within 2-3days

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30
Q

Is sensation affected with polio?

A

no

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31
Q

What is syndactyly?

A

two digits are fused due to failure of separation fo the skin./soft tissues or phalanges of adjacent digits either partially or along the entire length of the digits

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32
Q

What is polydactyly?

A

an extra digit is formed

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33
Q

What is fibular hemimelia?

A

where there is partial or complete absence of the fibular

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34
Q

What does fibular hemimelia lead to?

A

a shortened limb, bowing of the tibia and ankle deformity

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35
Q

What is tarsal coalition?

A

a fusion between two of the tarsal bones of hte foot

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36
Q

What can tarsal coalition cause?

A

painful flat feet in later childhood

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37
Q

Who do obstetric brachial plexus palsy commonly arise in?

A

large babies; twin deliveries and shoulder dystocia

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38
Q

What is the commonest type of obs brachial plexus palsy?

A

Erbs palsy

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39
Q

What happens in Erb’s palsy?

A

injury to the upper (C5 and 6) nerve roots resulting loss of motor innervation of the deltoid; supraspinatus; infraspinatus; biceps and brachialis muscles

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40
Q

Why is there internal rotation of the humerus in Erb’s palsy?

A

unopposed subscapularis action

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41
Q

What is the treatment for Erb’s palsy?

A

PT

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42
Q

What is Klumpke’s palsy?

A

lower brachial plexus injury (C8 and T1)

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43
Q

What causes Klumpke’s palsy?

A

forecful adduction

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44
Q

What muscles are affected in Klumpke’s palsy?

A

intrinsic hand muscles +/- finger and wrist flexors and possible Horners syndrom

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45
Q

Why can you get Horner’s syndrome with Klumpke’s palsy?

A

disruption of the first sympathitic ganglion from T1

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46
Q

Why ar ethe finger typically flexed with Klumpke’s palsy?

A

due to paralysis of the interossei and lubricals which assist extension at the PIPJ

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47
Q

At what age should a child be sitting alone,crawling?

A

6-9months

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48
Q

What age should a child stand?

A

8-12 months

49
Q

What age should a child be walking?

A

14-17months

50
Q

What age should a child be able to jump?

A

24 months

51
Q

what age should a child be able to manage stairs independently?

A

3yo

52
Q

By what age should a child have head control?

A

2 months

53
Q

What age should a child be speaking a few words?

A

9-12months

54
Q

What is the alignment of the legs of children at birth?

A

varus knees

55
Q

What is the alignment of children at age 3?

A

valgus

56
Q

What is the normal alignment of the legs by 7-9 (wich continues into adulthood)?

A

6 degrees of valgus

57
Q

What is considered to be pathological varus and valgus

A

+/- 6 degreees from mean value for the age

58
Q

What is Blount’s disease?

A

a growth disorder of the medial proximal tibial physis that causes marked and persisting varus deformity

59
Q

What are other causes of varus?

A

rickets; tumour; traumatic physeal injury and skeletal dysplasi

60
Q

What are persistent bow legs at risk of?

A

early onset medial compartment OA

61
Q

What are the causes of genu valgum?

A

rickets; tumours; trauma and neurofibromatosis

62
Q

How can genu valgum and varum be fixed surgically?

A

osteotomy or growth plate manipulation surgery

63
Q

What is in-toeing?

A

when feet point towards the midline when walking or standing

64
Q

What are causes of in0toeing?

A

femoral neck anteversion; internal tibial torsion; forefoot adduction

65
Q

What test can determine if flat feet are flexible?

A

Jack test- when the medial arch orms with dorsiflecion of the great toe

66
Q

What may cause flexible flat footedness?

A

ligamentous laxity; idiopathic or familial

67
Q

What does rigid flat footedness indicate?

A

there ris underlying bony abnormality

68
Q

What bony abnormality can cause rigid flat footedness?

A

tarsal coalition

69
Q

What is tarsal coalition?

A

where the bones of the hindfoot have an abnormal bony or cartilaginous connection

70
Q

What is DDH?

A

dislocation or subluxation of the femoral head during hte perinatal period which affects the subsequent development of the hip joint

71
Q

What are the risk factors for DDH?

A

positive family histroy of DDH; breech presentation; first born babies; Down’s syndrome and presence of other congenital disorders

72
Q

What are the clinical signs of DDH?

A

shortening, asymmetric groin/thigh skin creases and click or clunk on the Ortolani or Barlow manoeuvries

73
Q

What is the investigation done for DDH?

A

US

74
Q

Why can xrays not be used for early diagnosis of DDH?

A

the femoral head epiphysis is unossified until around 4-6 months

75
Q

What harness is used to treat DDH?

A

Pavlik harness

76
Q

What is the purpose of the Pavlik harness?

A

keeps the hips in comfortable flexion and abduction and mainting reduction and reducing the chance of AVN

77
Q

What are the consequences of a late diagnosis at 18 months?

A

open redduction is much more likely and the acetabluum is likely to eb very shallow- has much poorer prognosis

78
Q

What is transient synovitis?

A

self-limiting inflammation of the synovium of a joint, most commonly the hip

79
Q

What commonly precedes transient synovitis?

A

an upper respiratory tract infection- usually viral

80
Q

What is the presentation of transient synovitis?

A

limp or reluctance to weight bear on the affected side, range of motion may be restricted- not as much pain or loss of motion as septic arthritis, low grade fever but is not systemically unwell or septic

81
Q

What is the management for transiet synovitis?

A

short course of NSAIDs and rest- usually resolves within a few weeks

82
Q

What is Perthes?

A

idiopathic osteochondritis of the gemoral head

83
Q

Who gets Perthes?

A

active kids between 4 and 9 and boy 5:1

84
Q

What is the pathophysiology of Perhtes?

A

the femoral head tranisently loses its blood supply resulting innecrosis with subsequent abnormal growth, the femoral head may collapse of tracture and subsequent remodelling occurs

85
Q

What is the prognosis of perthes?

A

an incongruent joint will lead to early onset arthritis and may require hip replacement in adolescent or early adulthood

86
Q

What is the main determinant in prognosis?

A

age of onset- older children fare worse- changes the shape of femoral head and congruence of hte joint and the amoutn of collapse

87
Q

What may be underlying bilateral Perthes?

A

skeletal dysplasia or thrombophilia

88
Q

What are the clinical signs of Perhtes?

A

pina and a limp; los of internal rotation follwed by loss of abduction and a positive trendelenberg

89
Q

What is the treatment for Perthes?

A

xray observation and avoidance of physical activity

90
Q

Who gets SUFE?

A

overweight pre-pubescent adolescent boys

91
Q

What may predispose to SUFE?

A

hypothyroidsim or renal disease

92
Q

What causes SUFE?

A

the physis is not strong enough to support body weight ad the femoral epiphysis slips due to the strain- slips inferiorly in realtion to the femoral neck

93
Q

What are the clinical signs of SUFE?

A

pain and a limp; pain may be flet in the groin or knee. loss of iternal rotation of the hip

94
Q

What is the treatment for SUFE?

A

urgent surgery to pin the femoral head to prevent further slippage; some may require hip replacement in adolscene of early adulthood; osteotomy

95
Q

Why do you need to be careful when attempting gentle manipulation?

A

risks AVN

96
Q

What is jumpers knee?

A

patellar tendonitis

97
Q

What is apophysitis?

A

inflammation of a growing tubercle where a tendon attaches

98
Q

What is Osgood-Schlatter’s disease?

A

inflammation of the tibial tubercle apophysis

99
Q

What is Sinding-Larden-Johansson disease?

A

inflammation of hte inferior pole of hte patella

100
Q

What may cause anterior adolescent knee pain?

A

muscle imbalance; ligamentous laxity and subtle skeletal predisposition (genu valgum, wide hips, femoral neck anteversion); softening of the hyaline cartilage of the patella

101
Q

What is chondromalacia patellae?

A

softening of the hyaline cartilage of the patella

102
Q

What is osteochondritis dissecans?

A

an osteochondritis where a fragment of hyaline cartilage with varaible amount of bone fragments breaks off the surface of hte joint

103
Q

What is the presentation of osteochondritis dissecans?

A

poorly localised pain, effusion and locking

104
Q

What shape is an abnormally shaped discoid meniscus?

A

circular rather than C-shaped

105
Q

What symptoms does an abdnoramlly shaped discoid meniscus cause?

A

can be a source of pain and a “popping” sensation

106
Q

What causes talipes equinovarus?

A

abnormal alignment of the joints between the talus, calcaneus and navicular hwhich results in contracrues of the soft tissues resulting in deformity

107
Q

What is ankle equinus?

A

plantarflexion

108
Q

What are the deformities in talipes equinovarus?

A

plantarflexion; supination fo the forefoot and varus alignment of the forefoot

109
Q

What are hte risk factors for talipes equinovarus?

A

low amniotic fluid content; breech presentaion; familt histroy; boys 2:1

110
Q

What are the treatments for talipes equinovarus?

A

early splintage and surgery for those resistant to splinatge or with late diagnosis

111
Q

What is the splintage technique for clubfoot?

A

ponseti technique

112
Q

What tenotomy do 80% of children with clubfoot require to maintain full correction?

A

of the Achilles tendon

113
Q

Is idiopathic scoliosis more common in males or females?

A

females

114
Q

What is the surgery for scoliosis?

A

vertebral fusions and long rods connectin the posterior elements of hte spine

115
Q

What is spondylolisthesis?

A

slippage of one vertebra over another- often happens after spondylolysis

116
Q

What is the presentation of spondylolisthesis?

A

low back apin; radiculopathy- if slippage is severe; “flat back” due to muscles spasm and a characteristic waddling gait

117
Q

What have been implicated in the causes of spondylolisthesis?

A

increased body weight and increased sporting activity in adolescents

118
Q

What is spondylolysis?

A

defect or stress fracture in the pars articularis of the vertebral arch

119
Q

What is spondylosis?

A

OA of the vertebra

MSK (39 decks)

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