Childrens Orthopaedics- Congenital and Neuromuscular disorders

Question 1

name 4 neuromusclar disorders

Answer 1

cerebral palsy
tip toe walking
duchenne musclar dystrophy
high arch (cavus) foot

Question 2

name 4 congenital disorders

Answer 2

club foot (CTEV)
rocker bottom foot (CVT)
neurofibromatosis
skeletal dysplasia

Question 3

what is congenital talipes equinovarus

Answer 3

club foot

Question 4

what is club foot

Answer 4

congenital disorder, birth defect causing abnormal foot posture

Question 5

how can you remember the features of clubfoot

Answer 5

CAVE 
C- cavus (high arch)
A- adductus (foot turned inwards)
V- varus 
E- equinus (inability to dorsiflex ankle due to fixed achilles)

Question 6

who gets club feet and in which feet

Answer 6

2:1 boys

50% bilateral

Question 7

what causes clubfoot

Answer 7

majority idiopathic 
can be associated with:
spina bifida (myeloleningocoele)
diastrophic dwarfism 
tibial hemimelia

Question 8

what is postural talipes

Answer 8

is normal- when a normal foot that has been held in a deformed position in the uterus. Postural talipes is correctable with gentle passive dorsiflexion of the foot

Question 9

how do you distinguish club foot from postural talipes

Answer 9

postural talipes can dorsiflex ankle

Question 10

how do you treat clubfoot

Answer 10

serial casting (posenti method) +/- achilles tenotomy

Question 11

what is congenital vertical talus

Answer 11

rocker bottom feet

Question 12

what is rocker bottom feet

Answer 12

birth defect- irreducible dislocation of talus on navicular

• round plantar surface
• equinus hindfoot

Question 13

what can rocket bottom feet be associated with

Answer 13

more serious conditions

Question 14

do both club foot and rocker bottom foot have fixed ankle equinus

Answer 14

yes

Question 15

what is neurofibromatosis

Answer 15

congential disorder affecting the extremities, spin (scliosis), skin (neurofibromas)

Question 16

what is the mot common type of neurofibromatosis

Answer 16

NF1

Question 17

describe the genetics of neurofibromatosis

Answer 17

autosomal dominant, NF1 gene (neurofibromin) Ch17

Question 18

what are the features of neurofibromatosis

Answer 18

cafe au lait spots 
neurofibromas
freckling axilla/ inguinal region 
optic glioma 
lisch nodules 
cortical thinning/ pseudoarthritis

Question 19

what are skeletal dysplasias

Answer 19

congenital disorders involving bone and cartilage

Question 20

what are the features of skeletal dysplasias

Answer 20

shortening of the involved bone (can affect any bone at any part)
short stature (<2SD)
can be proportionate/ disproportionate

Question 21

what is achondroplasia

Answer 21

form of skeletal dysplasia cause by a mutation in the fibroblast growth factor receptor 3 FGFR3

Question 22

how is the inheritance pattern of achondroplasia

Answer 22

autosomal dominant

Question 23

what are the features of achondroplasia

Answer 23

normal trunk/ short limbs 
frontal bossing (prominent forehead)
genu varum 
normal intelligence 
motor delay

Question 24

how do you get neuromuscular disorders

Answer 24

are acquired throughout life- not genetic

Question 25

what is cerebral palsy

Answer 25

non progressive neuromuscular disorder caused by injury to the immature brain (<2 years)

Question 26

what can cause cerebral palsy

Answer 26

prematurity, perinatal (infection/ anoxic injuries/ meningitis)

Question 27

what are the features of cerebral palsy

Answer 27

upper muscular neuropathy, muscle weakness/ spasticity early- abnormal muscle forces, dynamic deformity late- contractures, fixed deformity, dislocation

Question 28

what is clasp knife spascity

Answer 28

when muscles have a high tone, will resist a certain movement and then give

Question 29

what is the functional classification of cerebral palsy

Answer 29

walking and non walking

Question 30

what are the types of cerebral palsy

Answer 30

spastic, dyskinetic, ataxia

Question 31

what are the possible treatments for cerebral palsy

Answer 31

treat centrally- benzodiazepines, baclofen surgery- dorsal rhizotomy botulinum toxin to paralyse muscles

Question 32

what is duchenne muscular dystrophy

Answer 32

commonest MD, inherited disorder causing progressive muscle weakness

Question 33

how is duchenne muscular dystrophy inherited

Answer 33

x linked recessive (1/3rd spontaneous)

Question 34

what is the pathophysiology of duchennes muscular dystrophy

Answer 34

abscence of dystrophin protein causes replacement of muscle with fibrofatty tissue

Question 35

when does duchenne muscular dystrophy present

Answer 35

2-5 years

Question 36

what is the treatment for duchennes muscular dystrophy

Answer 36

keep ambulatory, decrease contractures

Question 37

what are the features of duchennes muscular dystrophy

Answer 37

muscles weakness (proximal> distal) clumsy walking positive gowers sign (walking hands up thighs to stand) scoliosis

Question 38

how do you diagnose duchennes musclar dystrophy

Answer 38

creatine phospholinase CPK/ muscle biopsy (absence dystropin)

Question 39

what is the prognosis for duchennes musclar dystrophy

Answer 39

10 y/o assisted walking 15 wheelchair LE around 30 y/o

Question 40

what is pes cavus

Answer 40

high arched foot

Question 41

what is the morphology of pes cavus

Answer 41

elevated longitundinal arch and varus hindfoot

Question 42

what can cause cavus feet

Answer 42

idiopathic/ familial | 2/3rds due to neurological disorder: polio, cerebral palsy, myelomeningocoele, spinal cord injury

Question 43

how do you asses cavus feet

Answer 43

x rays/ coleman block test

Question 44

what is the management for cavus feet

Answer 44

soft tissue deformity (flexible)- conservative or soft tissue surgery fixed deformity- conservative management and bony (osteotomies) surgery