Paeds - Neurology

Question 1

Febrile Convulsions

What is it?
Clinical Features
Differential Diagnoses
Management
Prognosis

Answer 1

1. ) What is it? - a type of seizure that occurs in children with a high fever not caused by epilepsy or other underlying neurological pathology
   - only occur in children between 6mths and 5 years
2. ) Clinical Features
   - seizure occurs during a high fever from an underlying infection e.g. tonsillitis or URTI (must look for source)
   - simple: generalised tonic-clonic seizure, lasting 2-5mins and only occurring once during 1 febrile illness
   - complex: focal seizure OR lasts >15mins OR occurs multiple times during the same febrile illness OR drowsiness > 1 hour after the seizure
   - febrile status epilepticus is >30 minutes
3. ) Differential Diagnoses - must be excluded
   - epilepsy: seizure independent of a fever
   - neuro infection: meningitis, encephalitis
   - SOL: intracranial haemorrhage or brain tumours
   - syncopal episode, electrolyte abnormalities, trauma
4. ) Management
   - identify the underlying source of infection and control fever with simple analgesia (paracetamol, ibuprofen)
   - first seizure or complex seizure requires admission
   - offer reassurance and advice to parents:
   - put them in a safe place, place in the recovery position
   - do not put anything in their mouths
   - call an ambulance if the seizure lasts > 5 mins
   - can manage at home and then visit GP at the next chance
5. ) Prognosis - typically does not cause lasting damage, 1/3 will have at least one other episode
   - ↑the risk of developing epilepsy (esp if complex)

Question 2

Cerebral Palsy

Pathophysiology
Types of Cerebral Palsy
Clinical Features

Answer 2

1. ) Pathophysiology - damage to the brain around birth causing permanent neurological problems
   - not a progressive condition but nature sx may change over time during growth and development
   - antenatal causes: maternal infections, trauma
   - perinatal: birth asphyxia, pre-term birth
   - postnatal: meningitis, severe neonatal jaundice, head injury
2. ) Complications and Associated Conditions
   - hearing and visual impairment, learning disabilities
   - epilepsy, muscle contractures
   - kyphoscoliosis, GORDs
3. ) Types of Cerebral Palsy - 4 types
   - spastic (pyramidal): damage to UMNs -> hypertonia and ↓function, can be mono/hemi/di/quadri-plegic
   - dyskinetic: damage to the basal ganglia –> problems controlling muscle tone -> athetoid movements (e.g. writhing) and oro-motor problems
   - ataxic: damage to the cerebellum –> problems with coordinated movement
   - mixed: mix of all three
4. ) Clinical Features
   - sx becomes more evident during development:
   - ↑ or ↓ tone, generally or in specific limbs
   - hand preference before 12-18 months
   - failure to meet milestones, learning difficulties
   - problems with coordination, speech, walking, feeding or swallowing

Question 3

Examination and Management of Cerebral Palsy

Examination
General Management
Medical and Surgical Management

Answer 3

1. ) Examination - assess UMN/LMN signs and gait
   - UMN: hypertonia, hyperreflexia (brisk reflexes), preserved muscle bulk, power is slightly reduced
   - LMN: hypotonia, reduced reflexes, reduced muscle bulk w/ fasciculations, power is dramatically reduced
   - hemi/diplegic gait (UMN), ataxic gait (cerebellar)
   - high stepping gat (LMN or footdrop)
   - waddling gait (myopathy –> pelvic muscle weakness)
   - antalgic gait (limp) indicates localised pain
2. ) General Management - requires an MDT approach to help improve symptoms and maximise function
   - physio: stretch and strengthen muscles, maximise function and prevent muscle contractures
   - OT: help manage everyday activities
   - SALT: help w/ speech and swallowing
   - dieticians: ensure kids meet nutritional requirements, some may require PEG feeding
   - social workers: help with benefits and support
   - charities and support groups: provide opportunities to connect w/ others and learn/share information
3. ) Medical and Surgical Management
   - muscle relaxants (e.g. baclofen) for muscle spasticity and contractures
   - anti-epileptic drugs for seizures
   - glycopyrronium bromide for excessive drooling
   - surgeons can carry out surgical procedures to release contractures or lengthen tendons (tenotomy)

Question 4

Muscular Dystrophy

What is it?
Gower’s Sign
Management

Answer 4

1. ) What is it? - an umbrella term for genetic conditions that cause gradual weakening and muscle wasting
   - Duchennes muscular dystrophy is the main one
   - others: Beckers, myotonic, facioscapulohumeral, oculopharyngeal, Limb-girdle, Emery-Dreifuss
2. ) Gower’s Sign - a technique used to stand up from a lying position in kids w/ proximal muscle weakness
   - to stand up, they get onto their hands and knees and into the ‘downward dog’ position then walk their hands up their legs to get their upper body erect
   - their pelvic/proximal muscles are not strong enough to get their upper body erect w/o using their arms
3. ) Management - no curative treatment, need MDT
   - OT/PT to help improve their QoL
   - surgical and medical management of complications such as spinal scoliosis and heart failure

Question 5

Types of Muscular Dystrophy

Duchennes Muscular Dystrophy
Myotonic Dystrophy
Other Muscular Dystrophies

Answer 5

1. ) Duchenne’s Muscular Dystrophy - defective gene for dystrophin on the X-chromosome (X-linked recessive)
   - dystrophin helps hold muscles together
   - boys present around 3-5yrs w/ progressive muscle weakness starting around their pelvis
   - oral steroids can slow the progression and creatine supplements can give small ↑ in muscle strength
   - usually wheelchair-bound by teenage years with life expectancy being around 25-35yrs
2. ) Myotonic Dystrophy - often presents in adulthood
   - typical feature inc: progressive muscle weakness,
   - prolonged muscle contractions (hands can’t let go)
   - cataracts and cardiac arrhythmias
3. ) Other Muscular Dystrophies
   - Beckers: similar to Duchennes, presents at 8-12 yrs
   - facioscapulohumeral: childhood, weakness around the face, progressing to the shoulders and arms
   - oculopharyngeal: late adulthood, weakness of the ocular muscles (around the eyes) and pharynx
   - limb-girdle: teenage years, progressive weakness around the limb girdles (hips and shoulders)
   - Emery-Dreifuss: childhood, presents w/ contractures of the elbows and ankles, an progressive weakness

Question 6

Spinal Muscular Atrophy (SMA)

Pathophysiology
Categories
Management

Answer 6

1. ) Pathophysiology - progressive loss of LMNs in the spinal cord, leading to progressive muscular weakness
   - a rare autosomal recessive condition
   - LMN signs: fasciculations, reduced muscle bulk, hypotonia, reduced power and reduced reflexes
2. ) Categories - SMA type 2 is the most common
   - 1: early-onset (few months), death within 2 years
   - 2: onset <18mths, never walk but can get to adulthood
   - 3: onset after 1yr, can walk without support but will lose that ability, life expectancy is close to normal
   - 4: onset in the 20s, can walk short distances but will need a wheelchair, everyday tasks very tiring
3. ) Management - no cure, MDT support
   - physiotherapy: can be helpful in maximising strength in the muscles and retaining respiratory function
   - splints, braces and wheelchairs can be used to help
   - respiratory support w/ NIV may be required to prevent hypoventilation and respiratory failure
   - PEG feeding if significant swallowing problems