Neuro Flashcards
West syndrome
Infantile spasms Intellectual disability (deteriorating social interaction)
5 types generalised epilepsy
Absence
Atonic - loss of muscle tone and sudden fall to floor
Tonic - increased tone all over
Myotonic - repetitive jerky movements of limbs, head, trunk
GTC - tonic, followed by rhythmical contraction of muscle groups
Ix for hydrocephalus
Measuring HC
CrUSS
CT/MRI
Features of a migraine with aura
Lasts a few hours
Children go to lie down in a dark room and sleep
Genetic predisposition
Triggers - reduced stress, certain foods
NF1 features
Cafe au lait spots (6+) 2+ neurofibroma Axillary freckles Optic glioma Lisch nodule (harmatoma of iris) Bony lesions Fhx (first degree)
Origin of neurocutaneous syndromes
Nervous system and skin have common ectodermal origin. Embryological disruption = problems in both systems
Non-AED treatment for epilepsy
Surgery - hemispherotomy
Ketogenic diets
Vagal nerve stimulation
Muscular dystrophies
Inherited disorders with muscular degeneration. Often progressive
Features of a generalised tonic clonic seizure
Loss of tone followed by rhythmical contraction of muscle groups.
Lasts seconds to minutes
Can become cyanotic (hold breath)
Drooling saliva,
Bitten tongue
Incontinence
Post ictal deep sleep
Medical mx epilepsy
AED - monotherapy starting at the lowest effective dose
Side effects carbamazepine
Rash, neutropenia, hyponatraemia, interference with other medication
Mx of breath holding attacks
Distraction and behavioural techniques
Ddx seizures
Epilepsy
Non-epileptic:
- Febrile convulsion
- Breath holding attack
- Reflex anoxic
- West Syndrome
- Hypoglycaemia
- Hypocalcaemia
- Meningitis
Features of tuberous sclerosis
Ash leaf patches - depigmented macules
Shargreen patches - rough areas over lumbar spine
Adenoma sebaceum - angiofibromata in butterfly distribution
Infantile spasms, developmental delay often with autistic features, focal epilepsy, intellectual impairment.
Subungual fibromata
Rhabdomyomara
Polycytic kidneys
Diagnosis myasthaenia gravis
Anti-AChR Abs
Anti-MuSK
NF2 features
Bilateral acoustic neuroma
Is cerebral palsy progressive?
No (although things appear to change as child grows)
Mx CP saliva
SLT
Anticholinergics - hyoscine hydrobromide
Botox into salivary glands
Difference between Duchenne’s and Becker’s
Some functional dystrophin is produced in Becker’s, unlike DMD.
Later onset and slower progression of disease in Becker’s
Ix West syndrome
EEG - hypsarrythmia
Commonest type focal seizure
Temporal
Two examples inflammatory myopathies
Dermatomyositis
Myotonic dystrophy
Two broad categories of epilepsy
Generalised
Focal
Commonest cause of motor impairment in children
CP
Which type of CP does PVL typically predipose to?
Spastic diplegia (legs>arms)
Ix in child with seizures and developmental delay
Metabolic screen
Life expectancy Becker’s MD
Late 40s
Red flags for other neuro conditions (not CP)
o Absence of risk factors
o Family history of progressive neurological disorder
oLoss of already attained cognitive or developmental abilities
o Development of unexpected focal neurological signs
o MRI findings suggestive of progressive neurological disorder o MRI findings not in keeping with CP
Age presentation febrile convulsions
6mos-3yrs
Side effects gabapentin
Insomnia
Genetic abnormality in DMD
Deletion of Xp21 = mutation in dystrophin gene
Mx CP sleep
Sleep hygiene,
Melatonin
Mx CP eating and drinking
SLT assessment
Thickened fluids
Postural management
Optimise nutrition
Video fluoroscopy if necessary
Two broad categories of motor disorders
Central
Peripheral
Average age of diagnosis DMD
5.5 yrs
3 types of CP
Spastic
Dyskinetic
Ataxic
Features of dermatomyositis
Fever, misery
Symmetrical, proximal muscle weakness
Helioptrope rash
Gottren’s nodules
Mx headaches
Assess the impact on daily life
EXCLUDE RED FLAGS
Rescue treatment
- analgesia
- anti-emetics
- triptans (nasal)
Prophylactic treatment
- topiramate (Na channel blocker)
- beta blockers
- tricyclics
- acupuncture
Psychosocial suport
- identifying stressors
- relaxation techniques
Rescue therapy epilepsy
Buccal midazolam for seizures lasting more than 5 minutes
Advice for parents for febrile convulsion
Do not restrain child Protect from injury Do not put anything in their mouth Check airway Recovery position once stops Medical advice if >5 mins
Tuberous sclerosis management
Laser therapy for ash leaf patches and shargreen patches
AEDs for epilepsy
Anti-arrhythmics for cardiac involvement
anti-HTNs for PCKD
Features of spasms in West syndrome
Violent flexor spasms of head, trunk, limbs followed by extensor spasms of the arms
Features reflex anoxic episode
Trigger eg. fear, cold, head trauma
Child goes pale and falls to floor
Hypoxia may induce a GTC
Fast recovery
Commonest muscular dystrophy
DMD
Side effects lamotrigine
Rash
Features of motor cortex disorder
Loss of fine finger movements
Brisk hyperreflexia
Extended plantars
Ix epilepsy
History (?triggers)
EEG - asymmetry, hyperexcitation
MRI (if focal neuro signs) - structural and functional
Metabolic screen if developmental delay
Status epilepticus
Seizure lasting more than 5 minutes
Function of dystrophin (absent/mutated in MD)
Connects cytoskeleton to ECM
West syndrome prognosis
Poor - loss of skills, learning disabilities and continuing epilepsy
Prevalence of epilepsy in children
0.5%
Ix dermatomyositis
Bloods: Raised ESR, CRP
Muscle biopsy: inflammatory infiltrations/atrophy
Tuberous sclerosis inheritance patterm
AD
Which type of migraine has a genetic predisposition?
With aura
What % of children suffer from febrile convulsions?
3%
Cr USS finding predisposes to CP
Periventricular leukomalacia (HIE)
Delayed motor milestones in CP
Not sitting unsupported by 8 mos
Not walking before 18 mos
Hand preference before 1 yr
Mx status epilepticus (5 steps)
1) ABCDE. Secure airway, check hypoglycaemia, O2.
2) IV lorazepam.
3) If no response after 10 mins, given second dose IV lorazepam
4) Phenytoin infusion 20mg/kg for 20 mins (phenobarbitone if already on phenytoin)
5) RSI
SOL presentation
Morning/wake up headaches Change in mood, personality, school performance, Visual field changes Cranial nerve abnormalities Abnormal gait Growth failure
Which surgeries may be appropriate in muscular dystrophy
Tendoachilles lengthening and scoliosis surgery
AED for focal seizures
Carbamazepine
Lamotrigine
Inheritance pattern neurofibromatosis 1
AD - highly penetrant
When can children come off AED
2 years seizure free
Features of temporal focal seizure
Warning/aura, lip-smacking/plucking/automations. Impaired consciousness
Mx if febrile convulsion lasts longer than 5 min
Call ambulance
Measure blood glucose
Bucal midazolam/ PR diazepam
Age presentation West Sydrome
4-6 months
What is neurofibromatosis associated with?
MEN, phaeo, renal artery stenosis, HTN, gliomatous change
Initial mx epilepsy
Refer all patients to neurologist (first fit clinic)
Specialist epilepsy nurse
Record future seizures
Start a diary
INFORM SCHOOL
Pathophysiology of muscular dystrophy
Reduced dystrophin
Reduced intracellular firing = reduced calmodulin = increased free radicals = necrosis = muscle destruction and release of CK
Causes of CP
80% antenatal
10% HIE
10% postnatal
Migraine ddx
Abdominal migraine
Cyclical vomiting
BPPV
What % of childhood migraines are with aura?
10%
Example NMJ dysfx disorder
Myasthenia gravis
Features of CP
Abnormal limb/trunk posture
Delayed motor milestones
Slowed head growth
Feeding difficulties due to locomotor coordination
Abnormal gait (scissoring, tip toes)
Asymmetric hand function
Example central motor disorder
Cerebral palsy
Epilepsy
Recurrent, unprovoked seizures - transient signs and symptoms of abnormal/asynchrous/excessive firing of neurons
4 types focal seizure
Frontal - motor cortex with clonic/atonic features
Temporal - warning/aura, lip-smacking/plucking/automations. Impaired consciousness
Parietal - impaired sensation
Occipital - visual distortion
Two examples peripheral neuropathies
GBS
Facial nerve palsies e.g. Bell’s
4 types neurocutaneous syndromes
NF1
NF2
Tuberous sclerosis
Sturge-Weber
Cerebral palsy
Abnormality of movement and posture disturbance
Life expectancy of DMD
Late 20s
Eventual resp failure
Presenting features DMD
Waddling gait
Gower sign
Language delay
Pseudohypertrophy of calves (muscle replaced with fat/fibrous tissue)
Mx CP speech, language, comms
SLT
Posture control, breath control,
Alternative communication - comms boards, pictures, etc.
Age presentation dermatomyositis
5-10 years
Mx CP pain
Reducig regimen of paracetamol
Pathophysiology reflex anoxic episode
Cardiac asystole from vagal inhibition - trigger
Features of hydrocephalus
Increases HC centiles
Bulging fontanelle
Sun-setting gaze (fixed-downward)
Distended scalp veins
4 types of peripheral neuro disorders and their features
Anterior horn cell - weakness, hyporeflexia, fasciculations
Neuropathy - weakness, reduced sensation
NMJ dysfunction - progressive weakness
Myopathy - proximal weakness, wasting, abnormal gait,
Causes of postnatal CP
Kernicterus, meningitis/encephalitis, hypoglycaemia
Advice for parents epilepsy
Parents/carers - how to recognise a seizure
Record future seizures
Start a diary
Avoid dangerous activities (e.g. swimming until seizures under control)
Average age wheelchair dependence DMD
10-14 yrs
Ix for DMD
CK
Muscle biopsy
DNA
USS/MRI
Mx hydrocephalus
Ventriculo-peritoneal shunt
Ventriculostomy
What % of childhood migraines are without aura?
90%
Causes of secondary epilepsy
Infection, HIE, tumour, trauma,
Neurodegenerative disorder
Average age onset Becker’s MD
11 years
Mx myelomeningocele
Surgical repair
Physiotherapy
Mx neurofibromatosis
Medical - regular r/v ophtalmology, BP, skeletal complications)
Surgery - laser removal of nodules
Inheritance pattern DMD
XR
Features of myelomeningocoele
Meninges protrude with cord. Paralysis of legs, sensory loss, bladder/bowel dennervation, hydrocephalus
Causes of hydrocephalus
Increased CSF production
CSF flow obstruction
Inhibited CSF reabsorption
= ventricular dilatation
Mx CP bones
Ca, vit D, phosphate
Non-weight bearing
Example of anterior horn cell disease
Spinal muscular atrophy
Side effects sodium valproate
Weight gain, hair loss, liver failure
Features of nocturnal hypoxia
Daytime headache
Irritability
Reduced feed
Features myotonic dystrophy
Hypotonia
Feeding/resp difficulty
Features of Sturge-Weber syndrome
Port-wine stain in trigeminal region (V2)
Similar intracranial lesion
Haemangiomatous
Examples peripheral motor disorder
Neuromuscular Anterior horn cell Neuropathy NMJ Myopathy
Mx dermatomyositis
Physiotherapy to reduce risk of contractures
Steroids
Methotrexate
Features of GBS
2-3 weeks after GI infection (e.g. campylobacter)
Ascending, symmetrical muscle weakness
Increased protein in CSF
Three types of primary headache
Tension
Migraine
Cluster
Members of MDT CP
Paediatrician Nurse Physio OT SLT Dietetics Psych
Mx West syndrome
Prednisolone
Vigabatrin
Limitation of using EEG as ix for epilepsy
Need to catch the seizure
AED for generalised seizures
Sodium valproate
Keppra
Two categories of muscule disorders
Muscular dystrophies
Inflammatory myopathies
When does the neural plate fuse?
Within 28 days of conception
Features of basal ganglia disorder
Dystonia
Dyskinesia
Difficulty initiating movements
Chorea
Mx of DMD
Physiotherapy to help prevent contractures
Exercise
Psych support
CPAP (weakened ICM lead to nocturnal hypoxia)
Surgery - tendoachilles lengthening and scoliosis surgery
Prednisolone (delay wheelchair dependence)
Cardioprotective drugs if LVEF drops
Mx myotonic dystrophy
Physiotherapy OT (utensils) Ortho (foot drop) SLT - E,D, speech Pain - gabapentin/NSAIDs Mixeletine - for myotonia
Inheritance pattern myotonic dystrophy
AD - nucleotide triplet expansion, with anticipation thru generations
Three categories of headache
Primary (tension, migraine, cluster, other)
Secondary (Raised ICP, trauma, infection)
Neuralgias
Two types of migraine
w/ aura
w/o aura
When do febrile convulsions result in an increased risk of later epilepsy
If they are prolonged and/or recurrent
Mx absence seiures
- aimed at maximsing education potential and supporting social development.
Features of a migraine without aura
Lasts 1-72 hours
Pulsatile over the temporal/parietal region
Unpleasant GI disturbance - Nausea, vomiting, pain
Photophobia
Worsened by physical activity
What is the decision to treat epilepsy based on?
Risk of recurrence
Impact on life
How dangerous/impairing seizures are
What are common triggers for a migraine with aura?
Reduced stress
Certain foods
What % of epilepsy is idiopathic?
70-80%
What proportion of West syndrome have underlying neuro cause?
2/3
When appropriate to r/f febrile convulsion to paediatrician
If <18 mos Diagnostic uncertainty over cause Seizure lasted >15 mins Focal features during seizure Incomplete recovery after 1 hour
Mx CP muscle stiffness
Baclofen/diazepam
Mx myasthaenia gravis
Neostygmine
Prednisolone
Azathioprine
