Neurology

Question 1

What are infantile spasms/ West syndrome?

Answer 1

type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants

often associated with a serious underlying condition (TS, encephalitis, birth asphyxia - or may be cryptogenic)
and carry a poor prognosis

characteristic ‘salaam’ attacks: flexion of the head, trunk and arms followed by extension of the arms
this lasts only 1-2 seconds but may be repeated up to 50 times
progressive mental handicap

Question 2

Investigation/ management of infantile spasms/ West syndrome?

Answer 2

the EEG shows hypsarrhythmia in two-thirds of infants

CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)

poor prognosis
vigabatrin is now considered first-line therapy
ACTH is also used

Question 3

Summary of absence seizures in children?

Answer 3

4-8yrs
Few-30 secs, no warning
Quick recovery
Many per day

Good prognosis, 90-95% seizure free in adolescence

EEG: 3Hz generalised symmetrical

Sodium valproate
Ethosuximide

Question 4

Summary of Lennox Gastaut syndrome?

Answer 4

may be extension of infantile spasms (50% have hx)

onset 1-5 yrs

atypical absences, falls, jerks

Atonic: sudden loss of muscle tone + limpness. Head drop or nod.

90% moderate-severe mental handicap

EEG: slow spike

ketogenic diet may help

AEDs: clonazepam, sodium valproate

Question 5

Summary of benign rolandic epilepsy?

Answer 5

most common in childhood, M>F

paraesthesia (e.g. unilateral face), usually on waking up

Question 6

Summary of juvenile myoclonic epilepsy? (Janz syndrome)

Answer 6

onset: teens; F:M = 2:1

1. Infrequent generalized seizures, often in morning//following sleep deprivation
2. Daytime absences
3. Sudden, shock like myoclonic seizure (these may develop before seizures)
   usually good response to sodium valproate

Question 7

Summary of seizures in neonatal period?

Answer 7

try vitamin B6

2nd: hypoglycaemia, meningitis, head trauma

pyridoxine dependency (AR, IV B6)

benign familial neonatal seizures (AD)

benign neonatal convulsions (5th day)

Question 8

What are febrile convulsions?

Answer 8

Seizures provoked in otherwise normal children

Typically 6mnths + 5yrs

Regular antipyretics haven’t been shown to ↓ chance of febrile seizure occuring.

Usually early in viral infection temp ↑rapidly

Usually brief, last <5min

Tonic-clonic

1 in 3 risk of further febrile convulsion

RF: <18mnths, fever <39, shorter duration of fever before seizure + FH of febrile convulsion

Question 9

Complications of febrile convulsions?

Answer 9

Epilepsy: FH of epilepsy, complex febrile seizure, neuro development disorder.

No RFs 2.5% risk of developing epilepsy

all 3 RF = risk of developing, 50%

Question 10

Management of febrile convulsions?

Answer 10

1st seizure OR complex admit to paeds.

Recurrence teach parents to use rectal diazepam, buccal midazolam. Call ambulance if seizure lasts >5mins

Question 11

What is spinal muscular atrophy?

Answer 11

Degen neurological disease of childhood. LMN weakness, muscular atrophy.

Survival of motor neuron-1 (SMN-1) loss of function mutation > ↓motor neuron survival > loss of α motor neurons (even IU) > degen of ant horn cells > denervation skeletal muscle > hypotonia, muscle atrophy
AR, apoptosis of LMNs

Werdnig-Hoffman disease (spinal muscular atrophy type 1)

Question 12

Features of spinal muscular atrophy?

Answer 12

LMN signs

Proximal > distal

↓muscle strength, tone

Muscle atrophy

Fasciculations

↓deep tendon reflexes

Sensation not affected

Motor neurons of CN 3, 4, 6 + sacral motor neurons not affected > preserved eye movement + continence

Sleep disturbance

Cardiac arrythmias

Restrictive resp disease. Diaphragm involvement > resp collapse

Dysphagia, aspiration > pneumonia

Poor ambulation > delayed gastric emptying > GI reflux, constipation

Question 13

Investigations for spinal muscular atrophy?

Answer 13

Muscle testing: EMG, abnormal spontaneous activity, fibrillations, pos sharp waves

Muscle biopsy: large zones of severely atrophic myofibers. Remaining innervated fibres > unchanged/ hypertrophied size.

Question 14

Management of spinal muscular atrophy?

Answer 14

Nusinersen: ↑levels of functional SMN protein.

Risdiplam: mRNA splicing modulator improves efficiency of SMN2 transcription

Gastrostomy tube Encourage ambulation > ↓gastric emptying time > ↓constipation, GI reflux

Orthopaedic, MSK: physical therapy, spinal bracing > ↓scoliosis > ↓incidence of RLD

Question 15

What is cerebral palsy?

Answer 15

defined as a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain.

It affects 2 in 1,000 live births and is the most common cause of major motor impairment.

Question 16

Causes of cerebral palsy?

Answer 16

1°: genetic, AR glutamate decarboxylase 1 def
2°: preterm birth, CNS injury, IUGR, IU infection, APH, severe placental pathology, multiple preg, cerebral malformation.

antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)

intrapartum (10%): birth asphyxia/trauma

postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma

Question 17

Manifestations of cerebral palsy?

Answer 17

abnormal tone early infancy

delayed motor milestones

abnormal gait

feeding difficulties

learning difficulties (60%)

epilepsy (30%)

squints (30%)

hearing impairment (20%)

Question 18

Classifications of cerebral palsy?

Answer 18

spastic (70%)
> subtypes include hemiplegia, diplegia or quadriplegia
> increased tone resulting from damage to upper motor neurons

dyskinetic
> caused by damage to the basal ganglia and the substantia nigra
> athetoid movements and oro-motor problems

ataxic
> caused by damage to the cerebellum with typical cerebellar signs

mixed

Question 19

Features of cerebral palsy?

Answer 19

Paresis. Ataxia 
Spasticity, clonus
Irregular posture 
Dystonia, athetosis 
Chorea 
Orthopaedic contracture
Seizure 
Impaired vision/speech
Sleep disturbance 
Abnormal tone 
Delayed motor MS
Abnormal gait 
Retention of primitive reflexes.
Toe walking, knee hyperextension, scissoring

Question 20

Investigations for cerebral palsy?

Answer 20

CT, MRI: Hypoxic-ischaemic lesions e.g. periventricular leukomalacia/basal ganglia lesions. Cortical malformation, hydrocephalus

USS: in young infants with open anterior fontanelle

Neurological exam

Question 21

Management of cerebral palsy?

Answer 21

MDT approach

BDZ: myorelaxation, anxiety relief

Spasmolytics: muscle-spasticity relief, oral + intrathecal baclofen, botulinum toxin type A

Anticonvulsants

Pain med

Posture correction via surgery or braces/ other orthotic devices

Physical, occupational, speech therapy

selective dorsal rhizotomy