Childrens Orthopaedics- Congenital and Neuromuscular disorders Flashcards
name 4 neuromusclar disorders
cerebral palsy
tip toe walking
duchenne musclar dystrophy
high arch (cavus) foot
name 4 congenital disorders
club foot (CTEV)
rocker bottom foot (CVT)
neurofibromatosis
skeletal dysplasia
what is congenital talipes equinovarus
club foot
what is club foot
congenital disorder, birth defect causing abnormal foot posture
how can you remember the features of clubfoot
CAVE C- cavus (high arch) A- adductus (foot turned inwards) V- varus E- equinus (inability to dorsiflex ankle due to fixed achilles)
who gets club feet and in which feet
2:1 boys
50% bilateral
what causes clubfoot
majority idiopathic can be associated with: spina bifida (myeloleningocoele) diastrophic dwarfism tibial hemimelia
what is postural talipes
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
how do you distinguish club foot from postural talipes
postural talipes can dorsiflex ankle
how do you treat clubfoot
serial casting (posenti method) +/- achilles tenotomy
what is congenital vertical talus
rocker bottom feet
what is rocker bottom feet
birth defect- irreducible dislocation of talus on navicular
- round plantar surface
- equinus hindfoot
what can rocket bottom feet be associated with
more serious conditions
do both club foot and rocker bottom foot have fixed ankle equinus
yes
what is neurofibromatosis
congential disorder affecting the extremities, spin (scliosis), skin (neurofibromas)
what is the mot common type of neurofibromatosis
NF1
describe the genetics of neurofibromatosis
autosomal dominant, NF1 gene (neurofibromin) Ch17
what are the features of neurofibromatosis
cafe au lait spots neurofibromas freckling axilla/ inguinal region optic glioma lisch nodules cortical thinning/ pseudoarthritis
what are skeletal dysplasias
congenital disorders involving bone and cartilage
what are the features of skeletal dysplasias
shortening of the involved bone (can affect any bone at any part) short stature (<2SD) can be proportionate/ disproportionate
what is achondroplasia
form of skeletal dysplasia cause by a mutation in the fibroblast growth factor receptor 3 FGFR3
how is the inheritance pattern of achondroplasia
autosomal dominant
what are the features of achondroplasia
normal trunk/ short limbs frontal bossing (prominent forehead) genu varum normal intelligence motor delay
how do you get neuromuscular disorders
are acquired throughout life- not genetic
what is cerebral palsy
non progressive neuromuscular disorder caused by injury to the immature brain (<2 years)
what can cause cerebral palsy
prematurity, perinatal (infection/ anoxic injuries/ meningitis)
what are the features of cerebral palsy
upper muscular neuropathy, muscle weakness/ spasticity
early- abnormal muscle forces, dynamic deformity
late- contractures, fixed deformity, dislocation
what is clasp knife spascity
when muscles have a high tone, will resist a certain movement and then give
what is the functional classification of cerebral palsy
walking and non walking
what are the types of cerebral palsy
spastic, dyskinetic, ataxia
what are the possible treatments for cerebral palsy
treat centrally- benzodiazepines, baclofen
surgery- dorsal rhizotomy
botulinum toxin to paralyse muscles
what is duchenne muscular dystrophy
commonest MD, inherited disorder causing progressive muscle weakness
how is duchenne muscular dystrophy inherited
x linked recessive (1/3rd spontaneous)
what is the pathophysiology of duchennes muscular dystrophy
abscence of dystrophin protein causes replacement of muscle with fibrofatty tissue
when does duchenne muscular dystrophy present
2-5 years
what is the treatment for duchennes muscular dystrophy
keep ambulatory, decrease contractures
what are the features of duchennes muscular dystrophy
muscles weakness (proximal> distal)
clumsy walking
positive gowers sign (walking hands up thighs to stand)
scoliosis
how do you diagnose duchennes musclar dystrophy
creatine phospholinase CPK/ muscle biopsy (absence dystropin)
what is the prognosis for duchennes musclar dystrophy
10 y/o assisted walking
15 wheelchair
LE around 30 y/o
what is pes cavus
high arched foot
what is the morphology of pes cavus
elevated longitundinal arch and varus hindfoot
what can cause cavus feet
idiopathic/ familial
2/3rds due to neurological disorder: polio, cerebral palsy, myelomeningocoele, spinal cord injury
how do you asses cavus feet
x rays/ coleman block test
what is the management for cavus feet
soft tissue deformity (flexible)- conservative or soft tissue surgery
fixed deformity- conservative management and bony (osteotomies) surgery
