3. Paeds [Neurology]

Question 1

What is the eponymous name for Infantile Spasms?

Answer 1

West’s Syndrome

Question 2

What is the usual age range of onset for infantile spasms?

Answer 2

3-12 months

Question 3

Describe clinical features of infantile spasm.

Answer 3

Violent flexion of head, trunk and limbs, and then extension of arms.
Lasts 1-2 seconds.
Often 20-30 in each burst.
Often occur on waking, but can also be any time during the day.

Useful history feature; social interaction declines.
Most have an underlying neuro disorder.

Question 4

What investigation could you do to investigate infantile spasm, and what might it show?

Answer 4

EEG
Hypsarrhythmia

Question 5

What is the treatment of infantile spasms?

Answer 5

Vigabatrin

+/- steroids

Question 6

Discuss the prognosis of infantile spasm.

Answer 6

70% will have a good response to treatment.

Most will lose skills and develop a learning disability / continuing epilepsy.

Question 7

Give a broad definition of muscular dystrophy.

Answer 7

An inherited disorder that results in progressive muscle degeneration.

Question 8

What is the function of dystrophin?

Answer 8

Strengthens and protects muscle fibres from injury.

Question 9

What genetic disturbance causes Duchenne MD?

Answer 9

X-linked recessive disorder due to frameshift mutation.
Dystrophin gene deletion, on Xp21.

Question 10

What biochemical marker is a clue towards Duchenne MD?

Answer 10

Elevated CK

Question 11

How do you diagnose Duchenne MD?

Answer 11

CK and genetic testing

Question 12

What is the average age of diagnosis for Duchenne MD in the UK?

Answer 12

5 years

Question 13

Describe the clinical features of DMD (6).

Answer 13

Waddling gait
Running slowly
Taking the stairs 1 by 1
Gower’s sign; needing to turn prone to stand after the age of 3
Pseudohypertrophy of the calves
Language delay

Question 14

Why does pseudohypertrophy of the calves occur in DMD?

Answer 14

Replacement of muscle fibres by fat and fibrous tissue.

Question 15

DMD is progressive; what age are most patients unable to walk by?

Answer 15

10-14 years

Question 16

Life expectancy for those with DMD is in the late 20s. List 4 complications that occur in DMD, some of which contribute to the lowered LE.

Answer 16

Respiratory failure
Dilated cardiomyopathy (related to respiratory failure)
Scoliosis

1/3 have learning difficulties

Question 17

What management techniques are used in DMD to prevent contractures in lower limbs?

Answer 17

Physiotherapy
Ankle splinting

Question 18

Give two surgeries that can be used in the management of DMD.

Answer 18

Achilles tendon lengthening
Scoliosis surgery

Question 19

What is the benefit of using steroids in DMD?

Answer 19

preserve mobility
?prevent scoliosis

Question 20

Why does DMD cause sleep disordered breathing, and what are the symptoms, and management?

Answer 20

Weakness of respiratory and upper airway muscles.

Daytime headaches
Irritability
Loss of appetite

Treat with CPAP

Question 21

Outline a new form of treatment that is being trialled for DMD.

Answer 21

Genetic therapies including exon-skipping drugs.
These bypass some mutations and lead to a small amount of dystrophin and therefore a milder phenotype.

Question 22

Becker MD is alleic to DMD (same gene, different mutation). 1) What is the mutation in BMD and 2) Give key differences between DMD and BMD.

Answer 22

Non-frameshift insertion mutation

Similar features but are milder and progress slower

Average age of onset is 11

LE = middle to old age

Question 23

List 3 peripheral neuropathies that are common in children.

Answer 23

Charcot Marie Tooth

Chronic Inflammatory Demyelinating Polyradiculopathy (CIDP)

Guillain Barre (all ages)

Question 24

What is the genetic mutation and mode of inheritance of Charcot Marie Tooth?

Answer 24

CMT1A mutation in the myelin gene (70-80%)
Autosomal dominant

Question 25

What is CMT?

Answer 25

A hereditary, motor and sensory neuropathy that results in a symmetrical, slowly progressive distal muscle wasting.

Question 26

Give 5 clinical features of CMT.

Answer 26

Foot drop in preschool = tripping over
Loss of ankle reflexes, progressing to loss of knee.
Pes cavus ?

Question 27

What gross abnormality might the nerves in CMT show?

Answer 27

Hypertrophy

Question 28

What is GBS?

Answer 28

An acute post-infectious neuropathy

Question 29

What are the 2 most common infective causes of GBS, and what time frame does it present in?

Answer 29

2-3 weeks post URTI or campylobacter gastroenteritis

Question 30

Describe the clinical course of GBS.

Answer 30

Progressive, ascending muscular weakness over 1-2 weeks.

Question 31

GBS can lose a person to lose their reflexes. Give 5 other signs of autonomic involvement in a GBS patient.

Answer 31

Tachy/bradycardia
Loss of sweating
Ileus
Orthostatic hypotension
Urinary retention

Question 32

List 2 investigations that might be carried out in a suspected case of GBS, and describe what they would show if positive.

Answer 32

Spinal MRI; to rule out spinal cord lesion
LP; wcc normal, protein +++

Question 33

Describe the management of GBS.

Answer 33

Mainly supportive.

IV IgG or plasma exchange being used in some places.