1- paed conditions (congenital & neuromuscular) Flashcards

1
Q

what is a congenital disorder?

A

structural or functional anomalies that occur intrauterine life

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2
Q

what is cerebral palsy?

A
  • non progressive brain injury acquired antenatal, perinatal or early postnatal period
  • very multifactorial disorder
  • variable severity
  • disorder of development of movement and posture
  • sensory, perception, cognition, communication, behaviour & MSK problems
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3
Q

what is
a) monoplegia
b) hemiplegia
c) diplegia
d) triplegia
e) quadriplegia
in CP?

A

a) 1 limb affected (usually lower)
b) 1 side of body (usually upper more affected than lower)
c) all limbs affected but lower limbs more affected
d) 3 limbs affected, 1 side worse
e) all limbs affected

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4
Q

what are common MSK problems for CP?

A

hip dislocation & scoliosis

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5
Q

what are levels of CP?

A

level 1- 5
level 1 = problems walking
level 5 = completely wheelchair bound

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6
Q

what is HSMN?

A

= hereditary sensory motor neuropathy

  • it’s just a big chunky curvy foot that you get genertically (like charcot foot)
  • autosomal dominant hereditary disorder, it’s progressive and both sensory & motor affected (weak & numb)
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7
Q

what is spina bifida?

A
  • most common neural tube defect meaning gap in spine
    (failure of neural tube to close in 4th week embryogenesis)
  • different severities in outpouching = can be just spinal fluid, or spinal cord or nerve tissue
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8
Q

what are some causes of spina bifida?

A
  • folate deficiency
  • drug misuse
  • maternal infection
  • genetics
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9
Q

what are some additional congenital problems are common in kids with spina bifida?

A
  • kyphosis
  • hemivertebrae (abnormal shape vertebra)
  • clubfoot (foot twist in & down)
  • vertical talus (rockerbottom feet, wrong shaped talus)
  • hip dysplasias
  • knee deformities - tibial torsion

= these mostly occur due to muscle weakness & imbalance in spina bifida

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10
Q

what are some acquired symptoms that are experienced in spina bifida?

A
  • muscle imbalance
  • paralysis
  • reduced sensation in lower extremities

= lack of mobility can cause disuse osteopenia (decrease bone density). specific prognosis depends on spinal segment level (L3 & above wheelchair)

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11
Q

what are function classification for spina bifida? (think of dermatomes)

A
  • L2 – non ambulatory
  • L3 – household ambulator (hip flexion/adduct)
  • L4 – household ambulator (knee extension/ankle dorsiflexion/inversion)
  • L5 – community ambulator (toe dorsiflexion/hip extension/hip abduction)
  • S1-4 – normal ambulators
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12
Q

what is management of spina bifida?

A

can use orthoses (like a frame) to maintain alignment, prevent deformity and correct flexible deformity

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13
Q

what is cause of scoliosis?

A

mostly idiopathic but can be muscular

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14
Q

is tip toe walking walking in toddlers a big worry?

A

no, quite common and usually resolved but should note as can be cerebral palsy or muscle dystrophy

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15
Q

what is clubfoot?

A

when foot like very turned inwards, usually passively correctable at very young age. usually picked up on antenatal scan (it’s due to muscle contraction)

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16
Q

what is management of club foot?

A

special casts for 3 months (usually in 1st couple weeks of life) then boots & bars 23 hrs a day for 3 months then at night until age 4

17
Q

what are rockerbottom feet?

A

outward turned feet, congenital. causes rigid flat foot deformity. associated with neuromuscular & congenital

  • because of vertical talus
18
Q

what are red flags of growing pains?

A
  • asymmetry
  • good localisation
  • short history
  • persisting limp
  • not thriving
  • pain worsening
19
Q

what is osteochondritis dessicans?

A
  • Cartilage bone lesion (often in the knee, but can affect other joints including elbow and ankle)
  • unclear cause (atraumtic)
  • presents as activity related pain with stiffness & swelling
  • goes away by itself
20
Q

what is achondroplasia? what is hypochondroplasia?

A

genetic condition affecting FGFR3 gene which reduces longitudinal growth. spontaneous autosomal dominant

  • hypochondroplasia is same condition but less severely affected
21
Q

what is presentation of achondroplasia?

A
  • short stature
  • champagne glass pelvis (pelvis inlet smaller, champagne glass shaped)
  • foramen magnum stenosis (narrowing of space for spinal cord in skull - neurological issues)
  • adenotonsillar hypertrophy (enlarged tonsils)
  • frontal bossing (forehead more prominent)
  • trident hands (fingers short and 3rd&4th split apart more)
  • brachydactyly (fingers & toes shorter in proportion to other body parts)
  • macrocephaly (big head)
22
Q

what is marfans? typical presentation?

A

= autosomal dominant collagen gene mutation

presents →very tall, thin, long limbs, joint laxity, long spidery fingers, high arched palate, pectus excavatum, dilated aortic root, dural ectasia, hernia, ectopia lentis, retinal detachment, cardiac valve problems

23
Q

what is ehlers danlos? typical presentation?

A

= autosomal dominant change to elastin & collagen formation

presents →hypermobility, joint pain, easy bruising, dizzy, digestive problems, stretchy skin, fragile vessels

24
Q

what is osteogenesis imperfecta? presentation?

A
  • type I collagen abnormality

presents = blue sclera, bowed bones, hypermobile, teeth abnormalities, hearing problems, short

25
Q

what is management for osteogenesis imperfecta?

A

bisphosphonates, fracture fixation, vit D, physio

26
Q

what is obstetric brachial palsy and 2 types?

A

= brachial plexus nerves stretched or damaged in delivery

Erb’s palsy = C5-6, loss of motor for deltoid, biceps & brachii and rotator cuffs. internal rotation of humerus = waiters tip position
Klumpke’s palsy = C8+T1, paralysis intrinsic muscles of hand & fingers. fingers flexed due to paralysis of interossei & lumbricals