Neurology Flashcards
What is cerebral palsy?
Abnormality of movement and posture
→ activity limitation attributed to non-progressive disturbances that occurred in developing fetal or infant brain
- Term used for brain injuries up to 2yo
- After this called acquired brain injury
What are motor disorders of CP often accompanied by disturbances in? (7)
- Cognition
- Communication
- Behaviour
- Perception
- Sensation
- Seizure disorders
- Secondary msk problems
Causes of cerebral palsy?
80% antenatal in origin:
- Vascular occlusion
- Cortical migration disorders
- Structural maldevelopment of brain during gestation
- Genetic syndromes
- Congenital infection
10% due to hypoxicischaemic injury during delivery:
10% postnatal in origin:
- Meningitis/encephalitis/ encephalopathy
- Head trauma from accidental or non accidental injury
- Symptomatic hypoglycaemia
- Hydrocephalus
- Hyperbilirubinaemia
Early features of CP? (7)
- Abnormal limb +/or trunk posture & tone in infancy
- Delayed motor milestones
- → May be accompanied by slowing of head growth
- Feeding difficulties, with oromotor incoordination, slow feeding, gagging & vomiting
- Abnormal gait once walking achieved
- Asymmetric hand function <12m of age
- Primitive reflexes may persist and become obligatory
3 types of CP?
- Spastic (90%)
- Dyskinetic (6%)
- Ataxic (4%)
What is the sequence of normal motor development? With median and limit ages
Pushes up on arms and holds head up - 1.5m, 3m
Sits supported, head up with rounded back - 3m, 6m
Sits unsupported, arms free - 6m, 9m
Pulls to standing - 9m, 13m
Stands or walks independently - 12m, 18m
What is the commonest cause of developmental problems?
Cerebral palsy
What is spastic CP?
- Damage to UMN (pyramidal or corticospinal tract) pathway
- Limb tone increased (spasticity)
- → Associated brisk deep tendon reflexes and extensor plantar responses
- Tone in spasticity is velocity dependent→ faster muscle is stretched → greater resistance
- This elicits a dynamic catch which is hallmark of spasticity
- Increased limb tone may suddenly yield under pressure in ‘clasp knife’ fashion
- Limb involvement described as unilateral or bilateral
- Spasticity tends to present early - may be seen in neonatal period
- Sometimes initial hypotonia, esp of head and trunk
3 types of spastic CP?
Hemiplagia
- Unilat involvement of arm and leg
Quadriplegia
- All 4 limbs affected, often severely
Diplegia
- All 4 limbs affected, but legs > arms
Features of hemiplegia in spastic CP?
- Unilateral involvement of arm and leg
- Arm affected > leg → face spared
- Present at 4–12m of age with fisting of affected hand, flexed arm, pronated forearm, asymmetric reaching or hand function
- Subsequently tiptoe walk (toe–heel gait) on affected side may show
- Affected limbs may initially be flaccid + hypotonic → increased tone soon emerges as predominant sign
- PMH may be normal - unremarkable birth history with no evidence of hypoxic-ischaemic encephalopathy
- In some, condition is caused by neonatal stroke
- Larger strokes may cause hemianopia of same side as affected limbs
Features of quadriplegia in spastic CP?
- All 4 limbs affected, often severely
- Trunk involved with tendency to opisothonus (extensor posturing), poor head control and low central tone
- Often associated with seizures, microcephaly and moderate/ severe intellectual impairment
- May have been a hx of perinatal HIE
Features of diplegia in spastic CP?
- All 4 limbs, but legs affected much more than arms
- → Hand function may appear relatively normal
- Motor difficulties in arms most apparent with functional use of hands
- Walking is abnormal
- Diplegia associated with preterm birth due to periventricular brain damage
What is dyskinesia and 3 types of dyskinetic movements?
Movements which are involuntary, uncontrolled, occasionally stereotyped, and often more evident with active movement or stress
Chorea – irregular, sudden and brief nonrepetitive movements
Athetosis – slow writhing movements occurring more distally such as fanning of fingers
Dystonia – simultaneous contraction of agonist and antagonist muscles of trunk and prox muscles often giving twisting appearance
Other features of dyskinetic CP?
- Intellect may be relatively unimpaired
- Often present with floppiness, poor trunk control and delayed motor development in infancy
- Abnormal movements may only appear towards end of 1st y of life
- Signs due to damage/dysfunction in basal ganglia or associated pathways (extrapyramidal)
- Past→ commonest cause hyperbilirubinaemia (kernicterus) due to Rh disease of newborn
- Now → hypoxic ischaemic encephalopathy at term
Features of ataxic CP?
- Most genetically determined
- When due to acquired brain injury (cerebellum or connections), signs occur on same side as lesion but usually relatively symmetrical
- Early trunk and limb hypotonia, poor balance and delayed motor development
- Incoordinate movements, intention tremor and ataxic gait may be evident later
3 elements of CP management?
Physiotherapy
Drugs
- Diazepam as muscle relaxant
Orthopaedic surgery
Prevalence of epilepsy?
0.5%
Causes of epilepsy? (7)
Idiopathic (70-80%) Cerebral dysgenesis/malformation Cerebral vascular occlusion Cerebral damage eg congenital infection, HIE, IVH Cerebral tumour Neurodegenerative disorders Neurocutaneous syndromes
Features of generalised seizures? (5)
- Onset in both hemispheres
- Always loss of consciousness
- No warning
- Symmetrical seizure
- Bilaterally synchronous seizure discharge on EEG or varying asymmetry
Types of generalised seizures? (5)
Absence Myoclonic Tonic Tonic-clonic Atonic
Features of absence seizures?
- Transient loss of consciousness
- Abrupt onset and termination
- Unaccompanied by motor phenomena except for some flickering of eyelids and minor alteration in muscle tone
- Absences may be typical (petit mal) or atypical
- Often can be precipitated by hyperventilation
Features of myoclonic seizures?
- Brief, often repetitive, jerking movements of limbs, neck or trunk
- Non-epileptic myoclonic movements also seen physiologically in hiccoughs (myoclonus of diaphragm) or on passing through stage II sleep (sleep myoclonus)
Features of tonic seizures? (1)
Generalised increase in tone
Features of tonic-clonic seizures?
- Rhythmical contraction of muscle groups following tonic phase
- In rigid tonic phase, children may fall to ground, sometimes injuring themselves
- They don’t breathe and become cyanosed
- Followed by clonic phase, with jerking of limbs
- Breathing irregular, cyanosis persists and saliva may accumulate in mouth
- May be biting of tongue and incontinence of urine
- Seizure usually lasts few secs→mins, followed by unconsciousness or deep sleep up to several hrs
Features of atonic seizures?
Often combined with myoclonic jerk, followed by transient loss of muscle tone causing sudden fall to floor or drop of head
Features of frontal focal seizures?
- Involve motor or premotor cortex
- May → clonic movements, which may travel proximally (Jacksonian march)
- Asymmetrical tonic seizures can be seen, which may be bizarre and hyperkinetic and can be mistakenly dismissed as nonepileptic events
- Atonic seizures may arise from mesial frontal discharge
Features of temporal lobe focal seizures?
- Most common of all epilepsies
- May result in strange warning feelings or aura with smell & taste abnormalities and distortions of sound & shape
- Lipsmacking, plucking at clothing and walking in nonpurposeful manner (automatisms) may be seen, following spread to premotor cortex
- Déjàvu and jamaisvu described (intense feelings of having been, or never having been, in same situation before)
- Consciousness can be impaired and length of event longer than typical absence
Name a feature of occipital lobe focal seizures?
- Cause distortion of vision
Name a features of parietal love focal seizures?
- Cause contralateral dysaesthesias (altered sensation), or distorted body image
Ix used in epilepsy?
EEG MRI/CT - not routinely Functional imaging - PET/SPECT Metabolic Ix Genetic Ix
Yet normally diagnosis is from detailed hx
First line treatment for
a) tonic-clonic
b) absence
c) myoclonic
d) focal seizures?
a) valproate
b) valproate, ethosuxamide
c) valproate
d) carbemazepine, lamotrigine
3 types of non-pharmacological treatment for epilepsy?
Ketogenic (fat) based diet
Vagal nerve stimulation
Surgery
Common SEs of
a) Valproate
b) Carbamazepine
c) Lamotrigine
a) Wt gain, hair loss, idiosyncratic liver failure (rare)
b) Rash, neutropenia, hyponatraemia, ataxia, liver enzyme induction
c) Rash
What is status epilepticus?
Seizure lasting 30mins
or
Repeated seizures for 30mins without recover of consciousness
RFs for SUDEP?
SUDEP = sudden unexpected death in epilepsy
RFs:
- Poor seizure control
- Seizures during sleep
What % of children have a febrile seizure?
3%
- 10% risk if first degree relative
- 30-40% will have further episode
Features of febrile seizure?
- Occurs early in viral infection when temp rising rapidly
- Seizures brief, and generalised tonic-clonic seizures
- About 30–40% will have further febrile seizures
What factors increase risk of child having second febrile seizure? (4)
- Younger child
- Shorter the duration of illness before seizure
- Lower temp at time of seizure
- Positive FH
Chance of developing epilepsy following febrile seizure?
1-2%
- Slight increased risk
Yet if complex seizure (focal, prolonged or repeated in same illness) –> 4-12% risk
Examination/Ix for febrile seizure?
Look for cause of fever
- Usually viral
- Look for sx of bacterial e.g. meningitis
- → Infection screen (inc blood cultures, urine culture and lumbar puncture for CSF) may be necessary
- If child unconscious or has CV instability, LP CI and abx should be started immediately
Management of febrile seizures?
- Parents need reassurance and info
- Advice sheets given to parents
- Antipyretics not shown to prevent febrile seizures and tepid sponging no longer recommended
- Family taught 1st aid management of seizures
- If hx of prolonged seizures (>5min), rescue therapy with rectal diazepam or buccal midazolam supplied
- Oral prophylactic antiepileptic drugs not used as they do not reduce recurrence rate of seizures or risk of epilepsy
- EEG not indicated as does not serve as guide for treatment; nor does it predict seizure recurrence
Causes of non-epileptic seizures?
Febrile seizures Metabolic - Hypoglycaemia - Hypocalcaemia/hypomagnesia - Hypo/hypernatraemia Head trauma Meningitis/encephalitis Poisons/toxins
What are the causes of ‘funny turns’? (7)
Breath holding attacks Reflex anoxic seizures (head trauma, cold food, fright, fever) Syncope Migraine Benign paroxymal vertigo Cardiac arrhythmia Paroxymal movement disorders
What is a breath holding attack?
- Occurs in some toddlers when upset
- Child cries, holds breath and goes blue
- May briefly lose consciousness
- Recover rapidly
- Drug therapy unhelpful
- Behaviour modification e.g. distraction may help
What is a reflex anoxic seizure?
Trigger event e.g. head trauma, cold food, fright or fever
Child becomes v pale and falls to floor
Hypoxia may induce tonic-clonic seizure
Episodes are due to cardiac asystole from vagal inhibition
Seizure is brief and child rapidly recovers
Ocular compression under controlled conditions often –> asystole and paroxysmal slow-wave discharge on EEG
What do people with ataxia usually have difficulty with? (5)
- Balance and walking
- Speaking
- Swallowing
- Tasks that require high degree of control, e.g. writing and eating
- Vision
→ Exact sx and their severity vary depending on type of ataxia a person has
Features of cerebellar ataxia? (6)
- Unsteady wide-based gait (truncal atxia)
- Dysdiadochokinesis
- Intention tremor
- May be scanning dysarthria (speech problem)
- May be +ve Romberg’s test
- Nystagmus
Types of ataxia?
Acquired
Hereditary
- Friedreich ataxia
- Ataxia telangiectasia
Idiopathic late onset cerebellar ataxia (ILOCA)
Causes of acquired ataxia?
Acute
- Post-infectious
- Toxins
- Tumours
- Trauma
- Vascular (stroke)
Recurrent
- Toxin ingestion
- Basilar artery migraine
Chronic
- Brain tumours
- Hydrocephalus
- Nutritional
- MS
What is Friedreich ataxia?
- Autosomal recessive condition
- → Worsening ataxia, distal wasting in legs, absent lower limb reflexes but extensor plantar responses, pes cavus and dysarthria
- Similar to hereditary motor sensory neuropathies, but impairment of joint position and vibration sense, extensor plantars and often optic atrophy
- Cerebellar component becomes more apparent with age
- Kyphoscoliosis & cardiomyopathy can → cardiorespiratory compromise and death at 40–50y
What is ataxia telangiectasia?
- Autosomal recessive condition
- Mild delay in motor development in infancy and oculomotor problems (oculomotor dyspraxia), with difficulty with balance and coordination becoming evident at school age
- Subsequent deterioration - dystonia and cerebellar signs
- Many children require wheelchair for mobility in early adolescence
- Telangiectasia develops in conjunctiva, neck and shoulders from 4yo
Name the types of brain tumour? (5)
Astrocytoma (40%) Medulloblastoma (20%) Ependymona (8%) Brainstem glioma (6%) Craniopharyngoma (4%)
S+S of raised ICP in children and adolescents? (5)
- Headache – worse in morning
- Vomiting – esp on waking in morning
- Behaviour/personality change
- Visual disturbance
- Papilloedema
S+S of raised ICP in infants? (5)
- Vomiting
- Separation of sutures/tense fontanelle
- Increased head circumference
- Head tilt/posturing
- Developmental delay/ regression
Ix for brain tumour?
MRI
- Never do LP w/o neurosurgical advice if suspicion of raised ICP
In what anatomical position is a brain tumour not safe to biopsy?
Brainstem
What conditions can cause developmental regression? (5)
Battens disease Rett's syndrome Leukodystrophies Wilson's disease Subacute sclerosis panencephalitis (SSPE)
What is Battens disease?
- Rare, fatal autosomal recessive neurodegenerative developmental regression disorder that begins in childhood
- Sx occur 4-10y with gradual onset of visual problems and seizures
- Progresses to change in behaviour, speech and regression in learning
- May be a slow in growth and breath holding attacks
- Eventually function will deteriorate to dementia and death
Sx of leukodystrophies?
- Group of conditions characterised by dysfunction of white matter of brain
- Cause = incorrect growth of myelin sheath
Sx inc
- Gradual decline in infant/child who was previously doing well
- Progressive loss of movement, speech, vision, hearing and behaviour
What is Wilson’s disease?
- Autosomal recessive disorder
- Incidence of 1/200,000
- General result of condition is reduced synthesis of copper binding protein as well as defective excretion of copper in bile → accumulation of copper in liver, brain, kidney and cornea
- Rarely presents in children <3y and can present with almost any form of liver disease including hepatitis, (fulminant or acute), cirrhosis and portal hypertension
- Neuropsychiatric features more common after 2nd decade and inc deterioration in school performance, mood, behaviour and coordination
3 types of hydrocephalus?
Obstructive
- Obstruction in ventricular system
Communicating
- Failure to reabsorb CSF
- CSF overproduction
- Venous drainage insufficiency
External
- Absorption deficiency of infancy (self-limiting)
Clinical features of hydrocephalus?
- In infants (skull sutures not fused) head circumference may be disproportionately large or show XS rate of growth
- Skull sutures separate, ant fontanelle bulges and scalp veins become distended
- Advanced sign is fixed downward gaze or sun setting of the eyes
- Older children –> S&S of raised ICP
Ix for hydrocephalus? (3)
Cranial USS
CT/MRI
Head lentil measured on charts
Treatment of hydrocephalus?
Ventriculo-peritoneal shunt
When do anterior and posterior fontanelles close by?
Anterior - 12-18m
Posterior - 8w
Definition and causes of microcephaly? (4)
→ Head circumference <2nd centile, may be:
- Familial – present from birth and development often normal
- Autosomal recessive condition – associated with developmental delay
- Caused by congenital infection
- Acquired after insult to developing brain, e.g. perinatal hypoxia, hypoglycaemia or meningitis, often accompanied by CP and seizures
Definition and causes of macrocephaly? (9)
→ Head circumference >98th centile may be due to:
- Tall stature
- Familial macrocephaly
- Raised ICP
- Hydrocephalus – progressive or arrested
- Chronic subdural haematoma
- Cerebral tumour
- Neurofibromatosis
- Cerebral gigantism (Sotos syndrome)
- CNS storage disorders eg mucopolysaccharidosis (Hurler syndrome)
→ Most are normal children and often parents have large heads
What does rapidly increasing head size suggest?
Raised ICP
- Hydrocephalus
- Subdural haematoma
- Brain tumour
What is craniosynostosis?
Premature fusion of ≥1 sutures and may → distortion of head shape
What are primary headaches and different types? (4)
Thought to be due to a primary malfunction of neurones
Types:
• Migraine
• Tension-type headache
• Cluster headache (and other trigeminal autonomic cephalalgias)
• Other primary headaches (eg cough or exertional headache)
Causes of secondary headaches? (8)
- Head +/or neck trauma
- Cranial or cervical vascular disorder – vascular malformation or intracranial haemorrhage
- Non-vascular intracranial disorder – raised ICP, idiopathic HTN
- Substance or withdrawal – alc, sovent or drug abuse
- Infection- meningitis or encephalitis
- Disorder of homeostasis – hypercapnia or HTN
- Disorder of facial or cranial structures – acute sinusitis
- Psychiatric disorder
Features of tension-type headaches? (5)
- Symmetrical headache
- Gradual onset
- Often described as tightness, band or pressure
- Genetic predisposition
- Usually no other sx
Features of migraine w/o aura? (6)
- 90% of migraine
- Episodes may last 1–72 h
- Headache commonly bilateral
- Characteristically pulsatile, over temporal or frontal area
- Often accompanied by unpleasant GI disturbance such as N+V/abdo pain and photophobia or phonophobia
- Aggravated by physical activity
Features of migraine with aura?
- 10% of migraine
- Headache preceded by aura (visual, sensory or motor), although aura may occur w/o headache
- Absence of problems b/w episodes
- Frequent presence of premonitory symptoms (tiredness, difficulty concentrating, autonomic features, etc.)
- Most common aura = visual disturbance
- Episodes usually last few hrs, → children often lie down in quiet, dark place
- Sleep often relieves bout
- Genetic predisposition
- Bouts pos triggered by disturbance of biorhythms - late nights/early rises, stress, or winding down after stress at home or school
- Certain foods, e.g. cheese, chocolate and caffeine, only rarely a reliable trigger
- In girls, headaches can be related to menstruation and OCP
Rescue treatments for headaches? (3)
- Analgesia → paracetamol and NSAIDs taken early as pos in individual troublesome episode
- Anti-emetics – prochloperazine and metoclopramide
- Serotonin agonists eg sumatriptan – nasal preparation of this licensed for >12yo
Prophylactic treatments for headaches? (3)
- Pizotifen (5HT antagonist) – can cause weight gain and sleepiness
- Betablockers – propranolol; contraindicated in asthma
- Sodium channel blockers – valproate or topiramate
Red flag sx in headache for SOL? (5)
Worse on lying/coughing/straining
Wakes child up
Associated confusion
Associated morning or persistent nausea/vomiting
Recent change in personality, behaviour or educational performance
Red flag physical signs in headache for SOL? (10)
Growth failure Visual field defects Squint Cranial nerve abnormality Torticollis Abnormal coordination - cerebellar lesion Gait - UMN or cerebellar signs Papilloedema - late feature Bradycardia Cranial bruits - AV malformations
How does a subdural haematoma occur?
Results from tearing of veins as they cross subdural space
- Characteristic lesion in NAI caused by shaking or direct trauma in infants or toddlers
- Occasionally seen after falling from considerable height
How can you classify neuromuscular disorders (peripheral motor disorder)?
Disorders of anterior horn cell
- SMA
- Poliomyelitis
Disorders of peripheral nerve
- Hereditary motor sensory neuropathies
- Guillan Barre
- Bell palsy
Disorders of neuromuscular transmission
- Myaesthenia gravis
Muscle disorders
- Muscular dystrophies
- Inflammatory myopathies
- Myotonic disorders
- Metabolic myopathies
- Congenital myopathies
Is neuropathy usually proximal or distal weakness?
Is myopathy usually proximal or distal weakness?
Neuropathy - usually distal
Myopathy - usually proximal
Causes of a hypotonic infant?
Central – cortical
- HIE
- Cortical malformations
Central – genetic
- Down syndrome
- Prader-Willi syndrome
Central – metabolic
- Hypothyroidism
- Hypocalcaemia
Peripheral – neuromuscular
- SMA
- Myopathy
- Myotonia
- Congenital myasthenia
