11- Paediatric Neurology (3/3)

Question 1

spinal cord injury background

Answer 1

• When the spinal cord becomes damaged
• Common cause of permanent disability and death in children
• Medical emergency
• Complete injury: loss of all motor and sensory function below level of injury

Question 2

types of spinal cord injury

Answer 2

o Bruised (contusion)
o Partial tear
o Complete tear (transection)

Question 3

causes of spinal cord injury

Answer 3

• Delivery during birth, which most often affects the spinal cord in the neck
• Falls
• A motor vehicle accident, or being hit by a vehicle while walking
• Sports injury
• Diving accident
• Trampoline accident
• Gunshot or stab wound
• Infection that forms an area of damage (abscess) on the spinal cord
• Injury that blocks circulation to the spinal cord

Question 4

presentation of spinal cord injury

Answer 4

Spinal shock
- Right after a spinal cord injury
- Causes a loss or decrease in sensation, muscular movement and reflexes
As swelling goes down other symptoms may occur

Common symptoms
- Muscle weakness
- Loss of voluntary muscle movement and/ or sensation in chest, arms or legs
- Breathing problems
- Loss of bowel or bladder function
- Poor blood pressure control, sweating, shivering, abnormal GI function

Complete injury
- No movement or feeling below point of injury

Incomplete
- Some feeling or movement below the point of injury

Question 5

investigations for spinal cord injury

Answer 5

Blood tests

Imaging

• X-ray -> initial
• CT scan
• MRI -> gold standard

Neurological assessment

Vital signs

• HR- bradycardia can easily occur
• Hypotension
• Hypothermia
• Respiratory failure e.g. C1-4 – paralysis of the diaphragm

Question 6

Presentation of cervical spinal cord injury

Answer 6

• Injury to neck (cervical). This can cause loss of muscle function or strength in the arms and legs and loss of feeling below the point of injury. This is called tetraplegia (formerly known as quadriplegia) with sensory loss.

Question 7

Presentation of thoracic spinal cord injury

Answer 7

This often causes weak chest muscles. The child may need help with breathing using a breathing machine (ventilator).

Question 8

Presentation of lumbar and sacral spinal cord injury

Answer 8

This can cause paralysis and loss of function in the legs. It can also cause loss of nerve and muscle control to the bladder, bowel, and sexual organs. This is called paraplegia.

Question 9

management of spinal cord injuyr

Answer 9

MDT approach: Neurosurgical, orthopaedic and trauma service should be notified prior to admission

Initial spinal immobilisation– even if just query
- Foam collar

Intensive care support

Surgery to:
- Check cord
- Treat broken bones
- Release pressure

Supportive management
- Corticosteroids to help decrease swelling in spinal cord
- Mechanical ventilation
- Catheter
- NG feeding and nutrition

Rehab
- PT
 Maximise mobility
 Prevent contracture
- OT

Thromboprophylaxis

Question 10

Complications of spinal cord injury

Answer 10

• Pressure sores
• Pneumonia
• UTI
• Constipation
• DVT

Question 11

muscular dystrophy background

Answer 11

• Muscular dystrophy is an umbrella term for genetic conditions that cause gradual weakening and wasting of muscles.
• Group disorders caused by of genetic mutations – x-linked recessive
• The main muscular dystrophy to know about for the purpose of exams is Duchennes muscular dystrophy

Question 12

other types of muscular dystrophy

Answer 12

o Beckers muscular dystrophy
o Myotonic dystrophy
o Facioscapulohumeral muscular dystrophy
o Oculopharyngeal muscular dystrophy
o Limb-girdle muscular dystrophy
o Emery-Dreifuss muscular dystrophy

Question 13

risk factors for muscular dystrophy

Answer 13

• More common in males -> X-linked

Question 14

presentation of muscular dystrophy

Answer 14

• Gowers sign
• Waddling gait
• Calf pseudohypertrophy (enlarged calf- fat and fibrosis)

Later
- Wheelchair
- Resp
- Scoliosis
- Dilated cardiomyopathy
- Arrythmias

Question 15

Gowers sign

Answer 15

children with proximal muscle weakness use a specific technique to stand up from a lying position (particularly classic of Duchene and Becker)
- They get onto their hands and knees and push their hips up and backwards like the “downward dog” yoga pose
- They then shift their weight backwards and transfer to their hands to their knees
- Whilst keeping their legs mostly straight they walk their hands up to their legs to get their body erect
- This is because muscles around the pelvis are not strong enough to get their upper body erect without the help of their arms

Question 16

investigations for muscular dystrophy

Answer 16

Investigations
- High CK
- Genotyping: Mutations in dystrophin
- Muscle biopsy- stain for dystrophin

Question 17

management of muscular dystrophy

Answer 17

• No curative management
• Aims to improve quality of life for longest time
  o OT
  o PT and conditioning
  o Surgical and medical management of complications such as spinal scoliosis and HF
• Genetic counselling

Question 18

duchennes musuclar dystrophy pathophysiology

Answer 18

Defective gene for dystrophin on the X-chromosome meaning no dystrophin
- Dystrophin is a protein which helps hold muscles together at a cellular level
- Boys have a single X-chromosome and girls have two- therefore girls have a spare copy of dystrophin gene
- Female carriers don’t usually notice any symptoms – X-linked recessive condition. If mother is a carrier:
-> 50% chance of carrier if female
-> 50% chance of having condition if male

Question 19

Presentation of DMD

Answer 19

• 3-5 years with weakness in muscles around pelvis
• Weakness tends to be progressive and are usually wheelchair bound by teenage
• Life expectance – 25-35 years with good management of cardiac resp

Question 20

management of DMD

Answer 20

• Oral steroids have been shown to slow progression of muscle weakness.
• Creatine supplementation can give slight improvement to muscle strength

Question 21

beckers muscular dystrophy

Answer 21

• Beckers muscular dystrophy is very similar to Duchennes, however the dystrophin gene is less severely affected and maintains some of its function.
• The clinical course is less predictable than Duchennes.

Question 22

presentation of beckers muscular dystrophy

Answer 22

• Symptoms only start to appear around 8 – 12 years.
• Some patient require wheelchairs in their late 20s or 30s .
• Others able to walk with assistance into later adulthood.

Question 23

management of beckers

Answer 23

is similar to Duchennes.

Question 24

spinal muscular atrophy background

Answer 24

• Autosomal recessive condition caused by progressive loss of motor neurones -> leads to progressive muscular weakness
• Does not affect intelligence

Question 25

catergories of spinal muscular atrophy

Answer 25

Numbered from most to lead severe. SMA type 2 is most common.

Question 26

spinal muscular atrophy pathophysiology

Answer 26

• Mutations in survival motor neuron 1 gene (SMN1)
• Neurone degeneration affects lower motor neurones in the spinal cord

Question 27

presentation of spinal muscular atrophy

Answer 27

• Floppy or weak arms and legs
• Difficulty sitting up, crawling, walking
• Scoliosis
• Swallow problems
• Breathing problems
• Lower motor neurone signs
  o Fasciculation
  o Reduced muscle bulk
  o Reduced tone
  o Reduced power
  o Reduced or absent reflexes