Neuro Flashcards
What are periodic syndromes?
Syndromes which affect children and are often precursors of migraine
Child is well between episodes
What is cyclical vomiting?
A periodic syndrome.
Recurrent stereotyped episodes of vomiting and intense nausea associated with pallor and lethargy
Child is well in between episodes
What is abdominal migraine?
Idiopathic recurrent disorder
Episodic midline abdominal pain in bouts lasting 1-72 hr
Pain moderate to severe in intensity
Associated with vasomotor symptoms, nausea and vomiting
What is benign paroxysmal vertigo of childhood?
Heterogenous disorder
Characterised by brief episodes of vertigo which occur without warning and resolve spontaneously
Children otherwise healthy with normal neuro, auditory and vestibular exam
When can sumatriptan be given in children with headaches? Route
Nasal preparation
Licensed for use in children over 12 years of age
What are febrile seizures?
Seizure accompanied by a fever in absence of intracranial infection due to meningitis or encephalitis
Incidence and age prevalence of febrile seizures?
3% of children between 6 months and 6 years
Inheritance of febrile seizures
Genetic predisposition with 10% chance if first degree relative had them
When during illness does seizure usually occur
Early on in viral infection when temperature is rising rapidly
What sort of seizures are febrile seizures?
Usually tonic-clonic seizures
What % of 1st febrile seizure will have further ones
30-40%
What increases likelihood of having more febrile seizures? x4
Earlier on in illness
Younger age of child
Lower temperature at time of seizure
Positive family history
When is there an increased risk of developing epilepsy with febrile seizures? x3
If complex febrile seizures
Aka, prolonged, repeated in same illness or focal seizures
If febrile seizure goes on longer than 5 mins
Buccal midazolam or rectal diazepam
What happens in breath-holding attacks?
Happens in toddlers when they are upset
Child cries, holds breath, goes blue. Will sometimes briefly lose consciousness but rapidly recover
What is reflex anoxic seizure
Occurs in infants or toddlers when scared or shocked (head trauma, cold food, fright or fever)
Becomes pale and falls to the floor
Hypoxia may induce tonic-clonic seizure
Due to cardiac asystole from vagal inhibition
Child recovers quickly after brief seizure
Pseudoseizures vs fabricated seizures
Pseudoseizures - child feigns seizure
Fabricated - by parents
When do you do metabolic investigations with seizures?
When there is developmental regression or when seizures are related to feeds or fasting
What is West syndrome?
Violent flexor spasms of head, trunk and limbs followed by extension of arms
Flexor spasms last 1-2s and usually 20-30 spasms
Often occur on waking
EEG signs
2/3 have underlying neuro cause
What age is West syndrome?
4-6 months
How do you treat West Syndrome? Response rate and future development
Vigabatrin or corticosteroids
Good response in 30-40%
Most lose skills and develop learning disability or epilepsy
What is Lennox-Gastaut syndrome?
Multiple seizure types - mostly drop attacks, tonic seizures and atypical absences
Also have neurodevelopmental arrest/regression and behavioural disorder
Age and prognosis of Lennox-Gastaut
1-3 years
Often other complex neurological problems and history of infantile spasms
Prognosis poor
First line for tonic-clonic seizures x2
Valproate and carbamazepine
First line for absence seizure x2
Valproate and ethosuximide
First line for myoclonic seizure x1
Valproate
First line for focal seizures x2
Carbamazepine and valproate
Signs of myopathy in children?
Waddling gait or positive Gowers sign (need to turn prone to rise to standing, use arms to stand up)
When is positive Gowers sign normal?
Before the age of 3 years
Investigative signs of myopathy
Serum creatine phosphokinase markedly elevated in muscular dystrophy and inflammatory myopathies
Presentation of anterior horn cell disorders x4
Weakness, wasting, absent reflexes and fasciculation
What is spinal muscular atrophy?
Autosomal recessive degeneration of the anterior horn cells
Progressive weakness and wasting of skeletal muscles
What gene is mutated in spinal muscular atrophy?
Survival motor neurone (SMN) gene
What is Werdnig-Hoffman disease
Spinal muscular atrophy type 1
Very severe and presents early at birth/in infancy
What is noticed in pregnancy with Werdnig-Hoffman disease
Diminished fetal movements
What is noticed at birth with Werdnig-Hoffman disease
There may be arthrogryposis (positional deformities of the limbs with contractures of at least two joints)
Other signs of Werdnig-Hoffman disease x5
Lack of antigravity power in hip flexors Absent deep tendon reflexes Intercostal recession Fasciculation of the tongue Never sit unaided
Prognosis of Werdnig-Hoffman disease
Death from respiratory failure at 12 months
Features of type 2 spinal muscular atrophy
Can sit but never walk independantly
Features of type 3 spinal muscular atrophy (Kugelberg-Welander)
Do walk and can present later in life
What are the hereditary motor sensory neuropathies
A peripheral neuropathy with slowly progressive muscular wasting (distal)
Type 1 = Charcot-Marie-Tooth disease
Nerves can be hypertrophic due to demyelination followed by attempted remyelination
What limb is more affected in hereditary motor sensory neuropathies. Age of onset
Legs more than arms
Usually onset in first decade
What is GBS? how does it arise?
Acute post-infectious polyneuropathy
2-3 weeks after URTI or campylobacter gastroenteritis
Features of GBS x7
Ascending symmetrical weakness
Loss of reflexes
Autonomic involvement
Sensory symptoms may also be present
Bulbar muscle involvement = difficulty with chewing and swallowing - risk aspiration
Respiratory depression may need ventilation
Recovery from GBS
95% fully recover
May take up to 2 years
Main complication of Bells Palsy
Conjunctival infection due to incomplete eye closure on blinking
Age of presentation of juvenile myasthenia gravis
Onset usually after 10 years
Presents with ophthalmoplegia and ptosis, loss of facial expression and difficulty chewing
Treatment of MG
Anti-muscarinics (eg. atropine to reduce the muscarinic side effects of acetylcholinesterase inhibitors)
Neostigmine or pyridostigmine - prevent breakdown of acetylcholine
Longer term immunosuppression with prednisolone or azathioprine can help
Presentation of Duchenne Muscular Dystrophy and gene
Wadding gait and/or language delay Xp21 site (codes for dystrophin)
Average age of diagnosis of Duchenne
5.5 years but symptoms will be present earlier
No longer ambulant by age 10-14
What is used in Duchenne to preserve mobility and prevent scoliosis x4
Exercise, stretching to avoid contractures, brace for scoliosis
Prednisolone 10days per month
Mechanism of it helping is not known
What is Becker muscular dystrophy
Milder form of Duchenne
Average onset 11 years and can walk into 20s (only 11-14 in Duchenne)
Presentation of metabolic myopathies
Floppy infant or muscle weakness and cramps on exercise in older infants
What is benign acute myositis?
Assumed to be post-viral
Follows UTRI and runs self-limiting course
Pain and weakness in affected muscles
CPK raised
What is dermatomyositis?
Systemic illness, symmetrical proximal muscle weakness Characteristic violaceous (heliotrope) rash to eyelids and periorbital oedema
Where can rash extend to in dermatomyositis?
Extensor surfaces of joints and can get subcutaneous calcification
How and when does dermatomyositis present?
Presents usually between 5-10 years with fever, misery and eventually muscle weakness
Treatment of dermatomyositis x3
Physiotherapy to prevent contractures
Corticosteroids are mainstay
Other immunosuppressants eg. methotrexate, ciclosporin, may be needed
What do adults develop with dystrophia myotonica?
Cataracts (myotonia, delayed relaxation of muscles after contraction) and muscular dystrophy
What do males develop with dystrophia myotonica
Baldness and testicular atrophy
What is Friedreich ataxia?
Ataxia due to progressive damage of the nervous system - poor coordination and impairment of joint position and vibration sense - autosomal recessive
Eventually wheelchair is required for mobility
How does Friedreich ataxia present x4
With worsening ataxia
Distal wasting in legs
Absent lower limb reflexes
Absent extensor plantar responses
What happens in Freidreich ataxia due to pyramidal involvement? x2
Pes cavus and dysarthria
Life expectancy with Freidreich ataxia
Death at 40-50 years due to developing kyphoscoliosis and cardiomyopathy - cardiorespiratory compromise
Type of haemorhage in non-accidental injury or direct trauma in children
Subdural haematoma
Most common causes of stroke in children x3
Cardiac or sickle cell disease
Varicella infection
Mothers with neural tube defect child - chance of having another child with NTD
10x increased risk of second affected child
What has reduced risk of NTD
Folic acid
What is anencephaly?
Failure of development of most of the cranium and brain
Usually stillborn or die shortly after birth
Can detect antenatally and terminate pregnancy
What is encephalocele?
Extrusion of brain and meninges through midline skull defect
Can be corrected surgically
Often underlying associated cerebral malformations
What is spina bifida occulta?
Failure of fusion of vertebral arch
Can be overlying skin lesion
Often detected incidentally on x-ray
What is diastematomyelia
Underlying tethering of cord to skin overlying spina bifida
As grows can cause neurological deficits of lower limbs and bladder
What is meningocele?
Protrusion of dura and CSF through vertebral arch
Prognosis of meningocele
Good prognosis following surgical repair
What is myelomeningocele
Dura and spinal cord through unfused vertebral arch
What can myelomeningocele be associated with x6
Variable paralysis of legs Muscle imbalance with dislocations Sensory loss Bladder and bowel denervations (neuropathic bladder/bowel) Scoliosis Hydrocephalus
Management of myelomeningocele
Back lesion usually closed soon after birth - manage complications/resulting symptoms
What is hydrocephalus?
Obstruction to flow of CSF therefore dilatation of ventricular system proximal to obstruction
What is non-communicating/obstructive hydrocephalus
Obstruction within ventricular system or aqueduct
What is communicating hydrocephalus
Obstruction at arachnoid villi (site of absorption)
Features of hydrocephalus x4
Skull sutures have not fused therefore head circumference disproportionately large or excessive growth rate
Anterior fontanelle bulges
Sutures separate
Scalp veins distended
Advanced sign of hydrocephalus
Fixed downward gaze or sun setting of the eyes
Treatment of hydrocephalus
Insertion of ventriculoperitoneal shunt is mainstay
Endoscopic treatment to create ventriculostomy can now be performed
How do neurocutaneous syndromes arise?
Nervous system and skin have common ectodermal origin
Therefore embryological disruption causes syndromes involving abnormalities of both systems
Prevalence of neurofibromatosis 1
1 in 3000 live births
1/3 have new mutations
What features are present in NF1 x7 (need 2 or more for diagnosis)
6 or more cafe au lait spots >5mm before puberty or >15mm afterwards
More than one neurofibroma
Axillary freckles
Optic glioma
Lisch nodule
Bony lesions from sphenoid dysplasia (can cause eye protrusion)
1st degree relative with NF1
Where can neurofibromata appear in NF1
Anywhere on peripheral nerve - including visual/auditory nerves
Look unslightly and can cause neurological signs if where nerve passes through bone
Features of NF2 x4
Presents in adolescence
Less common
Bilateral acoustic neuromata
Sometimes cerebellopontine angle syndrome (VII CN paresis and cerebellar ataxia)
(Also get cataracts and peripheral neuropathy and less defined skin features - possible schwannomas)
What is tuberous sclerosis
Benign tumours grow on brain, other vital organs and skin
Cutaneous features of tuberous sclerosis x4
Depigmented ‘ash leaf’ shaped patches - fluoresce under UV light
Roughened patches of skin - usually over lumbar spine = Shagreen patches
Adenoma sebaceum - butterfly distribution over nose and cheeks
Periungual fibroma
Neurological features of tuberous sclerosis x3
Infantile spasms and developmental delay
Epilepsy (often focal)
Intellectual impairment
Nail features of tuberous sclerosis
Fibromata beneath the nails - subungual fibromata
What is Sturge-Weber syndrome?
Port-wine stains on one side of the face with tumours and CNS neurological defects
Where is facial lesion in Sturge-Weber syndrome?
In distribution of trigeminal nerve - opthalmic division is always involved
Neurological signs of Sturge-Weber syndrome x3
Epilepsy, Learning disability and hemiplegia - in most severe form
What are neurodegenerative disorders
Deterioration in motor and intellectual function with abnormal neurological features, abnormal head circumference, visual/hearing loss and behavioural changes
Causes of neurodegenerative disorders x5
Lysosomal storage diseases
Peroxisomal enzyme defects (involved in long chain fatty acid oxidation therefore LCFA accumulation)
Heredodegenerative disorders eg. HTT disease
Wilson disease
Subacute scelrosing panencephalitis (SSPE)
Prophylactic agents for headache x3
Pizotifen (5-ht antagonist) - can cause weight gain and sleepiness
B-blockers - propanaolol - CI in asthma
Sodium channel blockers (valproate or topiramate)
Management if epilepsy is suspected x4
EEG is always indicated (to add supportive evidence for diagnosis not to diagnose)
Can also do sleep or sleep-deprived EEG or 24 ambulatory EEG
MRI or CT is neurological signs are present between seizures or if they are focal
PET or SPECT (functional imaging to identify epileptogenic lesions)
Metabolic (see other flashcard)
Typical age for childhood absence epilepsy
4-12 years
What sort of diet might help epileptic children?
Ketogenic (fat-based) diet
Valproate side effects x3
Weight gain, hair loss and rare idiosyncratic liver failure
Carbamazepine/oxcarbezepine side effects x5
Rash, neutropenia, hyponatraemia, ataxia
Liver enzyme induction
Vigabatrin side effects x2
Sedation
Restriction of visual fields
Lamotrigine side effect
Rash
Probable cause of Bells Palsy
Post-infectious
Association with herpes simplex virus in adults
Management of Bells Palsy
Corticosteroids - reduce oedema in facial canal
Important DDX of Bells Palsy
Cerebellopontine angle tumour
Bilateral Bells Palsy DDX?
Sarcoidosis
Lyme disease
DX of MG x3
Administration of IV edrophonium (anticholinesterase) leads to improvement
Ach receptor antibodies (present in 60-80% of cases)
More rarely - anti-muscle specific kinase (anti-MuSK) antibodies
What are myotonic disorders?
Delayed relaxation after sustained muscle contraction - clinically and on EMG
eg. slow release of handshake
Presentation of dystrophia myotonica in newborns
Hypotonia, feeding and respiratory difficulties due to muscle weakness
What is ataxia telangiectasia?
Disorder of DNA repair - mild delay in motor development in infancy and oculomotor problems with incoordination
What becomes evident at school age in ataxia telangiectasia x3
Telangiectasia in conjunctiva, neck and shoulders from about 4 years of age
Difficulty with balance and coordination
Wheelchair needed in early adoloscence
Complications in ataxia telangiectasia x2
Increased susceptibility to infection
Develop malignant disorders, esp, acute lymphoblastic leukaemia
What is raised in serum in ataxia telangiectasia
Alpha fetoprotein
Complications of neurofibromatosis 1
60% develop learning difficulties
50% have ADHD
High blood pressure due to increased renin release from kidneys
Physical development abnormalities eg. large head, scoliosis, smaller weight and height than normal
Migraines, epilepsy and brain tumours
