paediatric congenital and neuromuscular disease

Question 1

list the congenital orthopaedic conditions (inane)

Answer 1

club foot
rocker bottom foot
neurofibromatosis
skeletal dysplasia

Question 2

list the neuromuscular paediatric conditions (acquired)

Answer 2

cerebral palsy
tip toe walking
duchene muscular dystrophy
high arch (cavus) foot

Question 3

what are the CAVE features of club foot

Answer 3

Cavus (high arch)
Adductus (front part of foot turns in)
Varus (bowed legged)
Equinus (unable to bend foot upward)

Question 4

who gets clubbed foot

Answer 4

2:1 boys

50% bilateral

Question 5

what causes clubfoot

Answer 5

mainly idiopathic but associated with:

diastrophic dysplasia
tibial hemimella
myelomeningocoele

Question 6

how do you treat club foot

Answer 6

progressive casting

+/- achilles tentomy

Question 7

what is rocker bottom feet

Answer 7

congenital vertical talus causing dislocation of the talus on navicular

Question 8

features of rocker bottom feet

Answer 8

round plantar surface

equines hind foot

Question 9

whats the real name for clubfoot

Answer 9

congenital talipes equinovarus

fixed ankle equinus

Question 10

whats the real name for rocket bottom foot

Answer 10

congenital vertical talus

fixed ankle equinus

Question 11

what is neurofibromatosis

Answer 11

a congenital condition affecting:
extremities
spine (scoliosis)
skin (neurofibromas)

Question 12

to diagnose neurofibromatosis they need to have 2 out of 7 of these symptoms

Answer 12

>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

Question 13

what gene is associated with neurofibromatosis

Answer 13

NF1 (most common)
AD
Ch17

Question 14

what are skeletal dysplasias

Answer 14

(dwarfisms)

congenital disorders involving bone and cartilage leading to dysplasia (abnormal development)

Question 15

features of skeletal dysplasia

Answer 15

shortening of involved bone

short stature

Question 16

what are the two main types of skeletal dysplasia

Answer 16

proportionate

disproportionate

Question 17

two main ways to classify dysplasias

Answer 17

by the area of bone affected eg.
epiphyseal
metaphysial
diaphyseal

by the pathophysiology eg.
storage disease
fibrous disorders

Question 18

what genes can be affected in achondroplasia

Answer 18

fibroblast growth factor receptor 3 (FGFR3)
AD
80% spontaneous mutations

Question 19

features of achondroplasia

Answer 19

normal trunk/short limbs 
frontal bossing (unusually pronounced forehead) 
Genu Varum (bowed legs) 
normal intelligence 
motor delay

Question 20

what is cerebral palsy

Answer 20

non-progressive neuromuscular disorder

Question 21

what causes cerebral palsy

Answer 21

injury to immature brain (<2 years)

• prematurity
• perinatal (infection, anoxic injuries, meningitis)

Question 22

what are some features of cerebral palsy

Answer 22

UMN disease (muscle weakness/spasticity) 
early sign of abnormal muscle forces > dynamic deformity 
late sing of contra cures/fixed deformity/dislocation

Question 23

what is the most common muscular dystrophy

Answer 23

duchenne muscular dystrophy

Question 24

what is duchene muscular dystrophy

Answer 24

an inherited disorder with progressive muscle weakness

Question 25

what causes duchene MD

Answer 25

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

Question 26

what is the aim of treatment for duchenne muscular dystrophy

Answer 26

keep ambulatory | decrease contractors

Question 27

when does duchenne muscular dystrophy present

Answer 27

2-5 years

Question 28

what are some features of Duchenne muscular

Answer 28

muscle weakness (proximal >distal) clumsy walking positive powers sign scoliosis

Question 29

how do you diagnose Duchenne muscular dystrophy

Answer 29

``` creatine phosphate muscle biopsy (absence of dystrophin) ```

Question 30

what is Gowers sign for Duchenne muscular dystrophy

Answer 30

using hands to push on legs to stand

Question 31

what are Cavus feet

Answer 31

pes cavus - high arches elevated longitudinal arch and various hind foot

Question 32

how do you treat cavus feet

Answer 32

physiotherapy | surgery (osteotomies)