paediatric congenital and neuromuscular disease Flashcards
list the congenital orthopaedic conditions (inane)
club foot
rocker bottom foot
neurofibromatosis
skeletal dysplasia
list the neuromuscular paediatric conditions (acquired)
cerebral palsy
tip toe walking
duchene muscular dystrophy
high arch (cavus) foot
what are the CAVE features of club foot
Cavus (high arch)
Adductus (front part of foot turns in)
Varus (bowed legged)
Equinus (unable to bend foot upward)
who gets clubbed foot
2:1 boys
50% bilateral
what causes clubfoot
mainly idiopathic but associated with:
diastrophic dysplasia
tibial hemimella
myelomeningocoele
how do you treat club foot
progressive casting
+/- achilles tentomy
what is rocker bottom feet
congenital vertical talus causing dislocation of the talus on navicular
features of rocker bottom feet
round plantar surface
equines hind foot
whats the real name for clubfoot
congenital talipes equinovarus
fixed ankle equinus
whats the real name for rocket bottom foot
congenital vertical talus
fixed ankle equinus
what is neurofibromatosis
a congenital condition affecting:
extremities
spine (scoliosis)
skin (neurofibromas)
to diagnose neurofibromatosis they need to have 2 out of 7 of these symptoms
>6 cafe au lait spots >2 neurofibromas (never tumours) freckling axilla/inguinal region optic glioma >2 litchi nodules cortical thinning/psudoarthrosis first degree relative affected
what gene is associated with neurofibromatosis
NF1 (most common)
AD
Ch17
what are skeletal dysplasias
(dwarfisms)
congenital disorders involving bone and cartilage leading to dysplasia (abnormal development)
features of skeletal dysplasia
shortening of involved bone
short stature
what are the two main types of skeletal dysplasia
proportionate
disproportionate
two main ways to classify dysplasias
by the area of bone affected eg.
epiphyseal
metaphysial
diaphyseal
by the pathophysiology eg.
storage disease
fibrous disorders
what genes can be affected in achondroplasia
fibroblast growth factor receptor 3 (FGFR3)
AD
80% spontaneous mutations
features of achondroplasia
normal trunk/short limbs frontal bossing (unusually pronounced forehead) Genu Varum (bowed legs) normal intelligence motor delay
what is cerebral palsy
non-progressive neuromuscular disorder
what causes cerebral palsy
injury to immature brain (<2 years)
- prematurity
- perinatal (infection, anoxic injuries, meningitis)
what are some features of cerebral palsy
UMN disease (muscle weakness/spasticity) early sign of abnormal muscle forces > dynamic deformity late sing of contra cures/fixed deformity/dislocation
what is the most common muscular dystrophy
duchenne muscular dystrophy
what is duchene muscular dystrophy
an inherited disorder with progressive muscle weakness
what causes duchene MD
x linked recessive mutation (1/3 spontaneous) so mainly affecting boys
leads to the absence of the dystrophin protein so muscles are replaced with firbofatty tissue
what is the aim of treatment for duchenne muscular dystrophy
keep ambulatory
decrease contractors
when does duchenne muscular dystrophy present
2-5 years
what are some features of Duchenne muscular
muscle weakness (proximal >distal)
clumsy walking
positive powers sign
scoliosis
how do you diagnose Duchenne muscular dystrophy
creatine phosphate muscle biopsy (absence of dystrophin)
what is Gowers sign for Duchenne muscular dystrophy
using hands to push on legs to stand
what are Cavus feet
pes cavus - high arches
elevated longitudinal arch and various hind foot
how do you treat cavus feet
physiotherapy
surgery (osteotomies)
