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MSK Flashcards

1
Q

duchenne muscular dystrophy is inherited in what pattern ? mutation and define

A

X-linked recessive
due to mutation in the dystrophin gene, leading to muscle cell necrosis. progressive weakness from the lower to upper body

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2
Q

at what age does duchenne’s muscular dystrophy usually present at? how may it present

A

2-3 Years
difficulty walking and jumping
also causes learning difficulties

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3
Q

what clinical findings may be seen in someone with duchennes muscular dystrophy?

A

Gowers sign
calf pseudo hypertrophy

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4
Q

at 12 years old children with duchenne muscular dystrophy are typically?

A

chair bound
scoliosis
poor pulmonary function

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5
Q

mean life expectancy with duchenne muscular dystrophy? cause of death usually

A

22 -cardiorespiratory compromise

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6
Q

cardiac complication of duchenne muscular dystrophy?

A

dilated cardiomyopathy

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7
Q

diagnosis of duchenne muscular dystrophy?

A
  1. very high plasma creatine kinase
  2. definitive diagnosis by genetic analysis (muscle biopsy is generally not needed)
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8
Q

management of duchenne muscular dystrophy?

A
  1. MDT approach
  2. physiotherapy + splints + steroids (slow down skeletal damage and progression of weakness)
  3. surgery for complications such as scoliosis
  4. CPAP for advanced disease (respiratory support)
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9
Q

inheritance of spinal muscular atrophy? gene involved

A

autosomal recessive
SMN1 gene (5q13)

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10
Q

classification of spinal muscular atrophy?

A

type 1: most severe, with an onset within the first 6 months, never able to sit, dies before 2
type 2: onset of 6-18 months, able to sit and walk with support and dies after 2 years
type 3: mildest, unveiled onset, deteriorating in the 30s

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11
Q

how many an infant present with spinal muscular atrophy? chronic

A

hypnotic
breathing difficulties
unable to suck or swallow

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12
Q

define juvenile idiopathic arthritis ?

A

defined as arthritis occuring for more than 6 weeks in those younger than 16 years

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13
Q

how is juvenile idiopathic arthritis classified?

A

oligoarthritis
poly arthritis
systemic

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14
Q

oligoathritis juvenile idiopathic arthritis is defined as involvement of < … number of joints

A

5 and is often asymmetric

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15
Q

most common joint involved in oligoarthritis idiopathic juvenile arthritis ?

A

ankle, knee, wrist

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16
Q

presentation of poly arthritis idiopathic juvenile arthritis ?

A

5 or more joints involved and usually symmetric
small and large joints (can involve TMJ and cervical spine

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17
Q

what extra-articular manifestation is commonly associated with Oligoarticular juvenile idiopathic arthritis ?

A

chronic anterior uveitis

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18
Q

polyarthritis juvenile idiopathic arthritis can be ….factor positive or negative

A

rheumatoid

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19
Q

Oligoarthritis and poly arthritis juvenile idiopathic arthritis is common diagnosed before the age of ….? and is more common in (sex)

A

6
females

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20
Q

typical age of onset of systemic juvenile idiopathic arthritis ? more common in females or males

A

1-10
male = female

21
Q

what are systemic features associated with systemic juvenile idiopathic arthritis ?

A

high grade fever
salmon pink rash macular rash
anemia and raised CRP and ESR
lymphadenopathy and hepatosplenomegaly

22
Q

presentation of systemic juvenile idiopathic arthritis is similar to ? 3

A

SLE
Kawasakis
rheumatic fever

23
Q

what are 2 other types of junvenile idiopathic arthritis ? (no oligo, poly, systemic)

A

psoriatic athritis
enthesitis-related arthritis

24
Q

elements of management of juvenile idiopathic arthritis ?

A
  1. MDT approach
  2. analgesia
  3. NSAIDs
  4. joint steroid injections
  5. methotrexate for poly arthritis — methotrexate-resistant disease consider biologic agents such as infliximab
  6. systemic steroids: for severe disease
25
Q

define rickets disease?

A

a disease caused by the failure of mineralization of the growing bone (when the same happens in the mature bone, it is called osteomalacia), due to deficiency of vitamin D

26
Q

causes of vitamin D deficiency?

A

poor sun exposure
low dietary intake of vitamin D, calcium, or phosphate
malabsorption (CF, celiac, liver disease)
defects in processing of vitamin D: chronic liver, renal, falcon syndrome (proximal tubule dysfunction)
drugs: Phenobarbital

27
Q

clinical features of rickets ?

A

craniotabes (softening of the skull)
costochondral rachitic rosary
wide wrists and ankles
Harrison sulcus
bowed legs
infants may present with seizures from hypocalcemia

28
Q

diagnosis of rickets ?

A
  1. dietary assessment
  2. blood tests revealing: decreased calcium, phosphate, and , 25-hydroxyvitamin D. Increased PTH and ALP
  3. x-ray of wrists showing cupping (widening)
29
Q

management of rickets ?

A
  1. identify cause, treat and supplement
    - nutritional rickets: optimize diet and supplement with cholecalciferol
    - hypophosphatemic rickets: X-linked dominant hereditary disorder which is resistant to vitamin D, supplemented with phosphate and Calcitriol
30
Q

….. Is the most common cause of acute limp in 2-12 years old

A

transient synovitis

31
Q

features of transient synovitis?

A
  1. decreased range of motion
  2. no pain at rest
  3. all tests are negative
32
Q

what must be exclude before diagnosing transient synovitis ?

A

septic arthritis

33
Q

what is the management of transient synovitis ?

A

rest and NSAIDs

34
Q

presentation of septic arthritis?

A
  1. high fever
  2. acutely unwell
  3. erythematous tender joint
35
Q

what is the most common organism that causes septic arthritis ?

A

staph aureus

36
Q

diagnosis of septic arthritis ?

A

joint aspiration and blood for culture and sensitivity

37
Q

management of septic arthritis ?

A

depends on the causative organism but generally IV flucloxacillin + gentamicin for 2-4 weeks

38
Q

define perthes disease?

A

idiopathic avascular necrosis of femoral epiphysis, occurring in 5-10 year olds, more commonly in males

39
Q

presentation of perthes disease?

A

insidious onset of hip pain associated with activity

40
Q

x-ray findings of perthes disease?

A

bone x-ray shows increased density of the femoral head early in the disease, progressing to show irregular edges later

41
Q

management of perthes disease?

A

conservative measures
surgical intervention if severe

42
Q

define slipped capital femoral epiphysis ?

A

femoral head displaces postero-infeeriorly, most commonly in 10-15 year old obese males

43
Q

presentation slipped capital femoral epiphysis ?

A

acute limp referred to knee with reduced ROM

44
Q

management of slipped capital femoral epiphysis ?

A

surgical intervention to prevent avascular necrosis

45
Q

genetics of achondroplasia?

A

50% of cases are autosomal dominant, and 50% are from sporadic mutations

46
Q

features of achondroplasia?

A

short stature
short limbs
frontal bossing
lumbar lordosis

47
Q

define osteogenesis imperfecta?

A

a group of disorders of collagen metabolism causing bone fragility, most common is type 1 which is autosomal dominant (type 2 is a severe and lethal form at birth)

48
Q

features of osteogenesis imperfecta?

A

unexplained fractures, blue sclera, hearing loss in a few (deformity in the ossicles of the middle ear)

49
Q

management of osteogenesis imperfecta

A

bisphosphonates

Paediatrics (12 decks)

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