Congenital and neuromuscular conditions

Question 1

What is osteogenesis imperfect?

Answer 1

AKA brittle bone disease
defect in the synthesis or organisation of type 1 collagen
thin osteopenia “gracile” bones
fractures heal wth abundant callus

Question 2

What are the differences between the milder and rarer cases of osteogenesis inperfecta

Answer 2

Milder cases- autosomal dominant with multiple fragility fractures, blue sclerae, hearing loss

Rarer cases- autosomal recessive and may be fatal in perinatal period or accosted with severe sclerosis and deformity

Question 3

What is skeletal dysplasia?

Answer 3

Genetic disorder leading to short stature

can be proportionate or disproportionate

Question 4

What is the treatment for skeletal dysplasia?

Answer 4

Supportive-preventing spinal cord and nerve compression, joint instability and deformity

Question 5

Where is connective tissue derived from and what does it contain

Answer 5

embryonically from mesoderm
contain collagen ( usually type 1) and elastin, ground substance , H2O
cells inc fibroblasts,macrophages and leucocytes

Question 6

What is Marfans

Answer 6

autosomal dominant or sporadic mutation of fibrillar gene
fibrillar required as a scaffold for elastin
results in tall stature, long limbs, hyper mobility and arachnodactyly

Question 7

What is Ehlers-Danlos Syndrome

Answer 7

usually autosomal dominant defect of one of a number of genes involved in collagen and elastin formation- more than 10 types
joint hyper mobility and dislocations
early onset OA
atrophic scars and poor wound healing
ease of bruising
scoliosis, kyphosis,cardiac abnormalities
occipital-atlanto instability, myelopathy,spinal cord tethering

Question 8

What is Down syndrome?

Answer 8

trisomy 21
joint laxity predisposes to recurrent dislocations and oa
atlanto-axial instability - may lead to spinal cord compression( myelopathy)

Question 9

What is Duchenne muscular dystrophy?

Answer 9

x-linked recessive (boys only)
Defect in dystrophin calcium transport–> progressive muscle weakness as boys grow older
Gowers sign on standing raised creatinine phosphoinase
scoliosis
progressive cardiac and respiratory failte
usually death in 20s

Question 10

What age do people with kickers muscular dystrophy die

Answer 10

30s to 40s

Question 11

What is tellies equinovarus?

Answer 11

deformity of foot aka clubfoot
50% cases bilateral
M:F (2-1)
Abnormal alignment talus,calcaneous and navicular
RF- + FH,breech,oligohydramnios
may be part of generalised skeletal dyspasia
higher risk DDH

Question 12

What is the treatment for talipes equinovarus?

Answer 12

Ponsetti technique-90% successful
casting for around 9 weeks
boots and bar 23h per day 3 months then night time up to 4 years
risk of recurrence
refractory cases may need complex surgery

Question 13

In terms of limb abnormalities and deficiencies if they are not genetically determined when are they likely to have occurred?

Answer 13

insult to the developing limb bud around 4th-6th weeks gestation

Question 14

What is the commonest malformation

Answer 14

Syndactyly –> failure of the separation of the digits

Question 15

What is fibular hemmimelia?

Answer 15

partial or complete absence of the fibula
associated with shortening of the leg, bowing of the tibia an deformity of the ankle
Mild- limb lengthening with circular frame external fixator
severe- amputation at 10 months to 2 years

Question 16

Who is obstetric brachial plexus injury most common in?

Answer 16

Large babies (macrosomia, diabetes), twin deliveries and shoulder dystocia

Question 17

What is era’s palsy?

Answer 17

upper brachial plexus (C5 and C6 roots)

• weakness deltoid, supraspinatus, infraspinatus, biceps, brachial
• internal rotation from unopposed subscapularis–> waiter’s tip posture
• return biceps function by 6 months carries good prognosis
• no recovery- release contractors and tendon transfers

Question 18

Klumpke’s Palsy

Answer 18

lower brachial plexus injury from traction on abducted arm
–> paralysis intrinsic hand muscles +- finger and wrist flexors
prognosis poorer than for Erbs

Question 19

What is cerebral palsy?

Answer 19

due to an insult to eh immature brain before 3 years of age
often intrauterine- genetic abnormalities, brain malformation and intrauterine infection
variable expression depending on area of brain affected

Question 20

What are the different types of cerebral palsy?

Answer 20

Spastic (80%)-motor cortex affected
Ataxic
Athenoid-uncontrolled writhing (basal ganglia)
Dystonic-Repetative movements (basal ganglia)

Question 21

What does hemiplegic mean

Answer 21

ipsilateral arm and leg affected (CP)

Question 22

What does diplegia mean

Answer 22

legs only affected (CP)

Question 23

What is the treatment for CP

Answer 23

Baclofen (inducing intrathecal)
Botox injection
Neurosurgical procedures (rhizotomy)

joint contractures- surgical release,fusions

Question 24

What is spina bifida?

Answer 24

Failure of fusion of posterior vertebral arch

Question 25

What is mild spina bifida?

Answer 25

Sina bifida oculta

may be birth mark, skin tag, lipoma or hairy patch
can cause tethering spinal cord and roots
-Pes Casvus ( high arch) and clawing of toes
-Bladder/bowel problems

Question 26

What is severe spina bifida?

Answer 26

sina bifida cyctica

no skin coverage
herniation of meninges (meningocele) or roots of caudal equine (myelomeningocele)

may be associated with hydrocephalus (build up of CSF in the brain-treatment is a shunt)

Question 27

In myelomeningocele there is normally no neurological defect T/F

Answer 27

F
Meningocele usually no neurological defecit
Myelomeningocele usually motor and sensory defect below level of lesions - most never walk independently

Question 28

What is the treatment of spina bifida?

Answer 28

early closure within 48h of birth

may need scoliosis correction, procedures for hips, releases contractors,foot surgery

Question 29

What is polio?

Answer 29

Viral infection of anterior horn cells in spinal cord or brainstem

Question 30

How does polio enter?

Answer 30

Entry via GI tract, flu like illness and subsequent paralysis of group of muscles one or more limbs within 2-3 days

Question 31

Treatment for polio

Answer 31

splint/brace/caliper may help
tendon transfer
joitn fusons
leg lengthening