3. Paeds [Neurology] Flashcards
What is the eponymous name for Infantile Spasms?
West’s Syndrome
What is the usual age range of onset for infantile spasms?
3-12 months
Describe clinical features of infantile spasm.
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.
What investigation could you do to investigate infantile spasm, and what might it show?
EEG
Hypsarrhythmia
What is the treatment of infantile spasms?
Vigabatrin
+/- steroids
Discuss the prognosis of infantile spasm.
70% will have a good response to treatment.
Most will lose skills and develop a learning disability / continuing epilepsy.
Give a broad definition of muscular dystrophy.
An inherited disorder that results in progressive muscle degeneration.
What is the function of dystrophin?
Strengthens and protects muscle fibres from injury.
What genetic disturbance causes Duchenne MD?
X-linked recessive disorder due to frameshift mutation.
Dystrophin gene deletion, on Xp21.
What biochemical marker is a clue towards Duchenne MD?
Elevated CK
How do you diagnose Duchenne MD?
CK and genetic testing
What is the average age of diagnosis for Duchenne MD in the UK?
5 years
Describe the clinical features of DMD (6).
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
Why does pseudohypertrophy of the calves occur in DMD?
Replacement of muscle fibres by fat and fibrous tissue.
DMD is progressive; what age are most patients unable to walk by?
10-14 years
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.
Respiratory failure
Dilated cardiomyopathy (related to respiratory failure)
Scoliosis
1/3 have learning difficulties
What management techniques are used in DMD to prevent contractures in lower limbs?
Physiotherapy
Ankle splinting
Give two surgeries that can be used in the management of DMD.
Achilles tendon lengthening
Scoliosis surgery
What is the benefit of using steroids in DMD?
preserve mobility
?prevent scoliosis
Why does DMD cause sleep disordered breathing, and what are the symptoms, and management?
Weakness of respiratory and upper airway muscles.
Daytime headaches
Irritability
Loss of appetite
Treat with CPAP
Outline a new form of treatment that is being trialled for DMD.
Genetic therapies including exon-skipping drugs.
These bypass some mutations and lead to a small amount of dystrophin and therefore a milder phenotype.
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.
Non-frameshift insertion mutation
Similar features but are milder and progress slower
Average age of onset is 11
LE = middle to old age
List 3 peripheral neuropathies that are common in children.
Charcot Marie Tooth
Chronic Inflammatory Demyelinating Polyradiculopathy (CIDP)
Guillain Barre (all ages)
What is the genetic mutation and mode of inheritance of Charcot Marie Tooth?
CMT1A mutation in the myelin gene (70-80%)
Autosomal dominant
