Neuro Flashcards
Seizures are twice as common in preterm neonates as term T/F
False - they are 4 times more common in preterm
Infection is the second most common cause of seizure in neoates T/F
False
1st HIE
2nd Cerebral infarction
AEDs used in the neonatal period achieve good seizure control in 80% of patients T/F
False
Relatively low rates of control (about 40-60%)
Prognosis of neonatal seizure is very poor T/F
False
Favourable outcomes in about 70% (although decreased to 50% for seizures secondary to HIE)
Studies suggest that AEDs used to control seizures in the neonatal period may themselves lead to neuronal death with lasting effects on development T/F
True
However a balance needs to be struck between treatment side effects and the risks of ongoing seizures
What is Devic’s disease AKA?
Neuromyelitis optica
What is the treatment of neuromyelitis optica?
Plasmapheresis (as opposed to high dose steroids for MS)
What two features are suspicious for NMO (neuromyelitis optica).
Lab test?
Optic neuritis and transverse myelitis
Lab: aquaporin antibodies
What lab tests can help with the diagnosis of sydenham’s chorea?
Anti-streptolysin O titres and anti-DNAse B antibodies
Nerve conduction studies are the best way to diagnosis SMA (spinal muscular atrophy) type 1 T/F
F - neonatal nerve conduction studies are difficult to interpret and may be delayed until 6 months old
Diagnosis: genetic testing for del on chr 5q (SMN1) - 95% of cases; muscle biopsy may be needed for genetic testing is not definitive
SMA type one is typically caused by a del on chr 10q T/F
F - del on chr 5q (SMN1 gene)
Centrotemporal spikes on an EEG are diagnostic of what seizure disorder?
Benign rolandic epilepsy (BECTS - benign epilepsy with centrotemporal spikes)
3/s spikes on EEG what sz disorders?
Absence
AKA spike and wave pattern
Note: can be induced by hyperventilation
Vertical nystagmus where is the lesion?
Brainstem at pontomedullary junction (eg Arnold Chiari malformation)
In vestibular nystagmus the slow phase is directed to the side of the lesion T/F
True
In cerebellar nystagmus the fast component is directed toward the side of the lesion T/F
True
Triad of spasmus nutans
Head nodding
Torticollis
Pendular nystagmus
Note: presents in the first 2 yrs of life and can resolve spon
The first sz in a child with significant HA needs urgent eval preferably with a CT brain T/F
F - needs an MRI, CT may miss some small lesions
What type of epilepsy presents with seizure with prominent autonomic features (pallor, emesis or retching)
Panayiotopoulous syndrome (AKA early-onset benign partial epilepsy with occipital paroxysms) Note: Typically in those 1-14yrs, 10% or more off all epilepsy in childhood
Common side effects of sodium valproate
Metabolic: weight gain, increased appetite, insulin resistance, metabolic syndrome, hair loss. Link with PCOS
Haem: easy bruising due to thrombocytopenia and other coag abnormalities
Also tremor
Common side effects of carbamazepine
Diplopia
Ataxia
Also link with SJS
Note: lamotrigine also commonly causes diplopia and ataxia
What AED causes: Nystagamus Gum hypertrophy Hirsutism Anaemia Liver problems Rash (SJS assoc) Decreased folic acid Decreased bone density
Phenytoin
Weight loss is a side effect of what AED
Topiramate
Note: other side effects - slow thinking, paraesthesia, metabolic acidosis, calcium phos nephrolithiasis (need to keep hydrated)
Also inhibits renal carbonic anhydrase and so can cause proximal and distal acidification defects
Panayiotopoulous syndrome has a poor prognosis T/F
F - prognosis is excellent and most children usually go into spon remission after a few sz and treatment if often unneccessary
Panayiotopoulous syndrome is characterised by very low frequency of episodes, sleep onset, prolonged duration and preserved neurodevelopment. T/F
T
Note: AKA early onset benign partial epilepsy with occipital paroxysms
How does Landau-Kleffner present?
Regression in language skills, subacute onset of acquired aphasia in a child with previously normal development and cognition
Seizures usually accompany progression of syndrome
Note: characterised by EEG abnormalities which are seen in sleep
Differentiate from Lennox Gastaut - regression usually starts after the seizures
1st and 2nd line tx of absence seizures?
1st: ethosuximide or valproate
2nd: lamotrigine
Which is the most likely AED to cause problems in the foetus?
Sodium valproate
Note: increased risk of 6 specific malformations- spina bifida, ADS, cleft lip, hypospadias, polydactyly and craniosynostosis
Which AED - facial dysmorphism, DD, cleft lip and palate, microcephaly, hypo plastic nails and skeletal malformations?
Phenytoin
Note: fetal hydantoin syndrome
Auditory brain stem evoked response is the most appropriate way to check the hearing of a 5 yr old T/F
F - it can be done at any age but it is a long test.
Note: Pure tone audiometry or play audiometry would be more appropriate for this age (uses headphone and plays different tones so some cooperation is required).
Otoacoustic emissions is a useful screening test but cannot distinguish between conductive and sensory deficits.
Typical presentation and age for infantile spams?
Flexion-extension spasm
3 months - 1 yr
EEG hypsarrhythmia
M > F
What is Werdnig Hoffman disease
Spinomuscular atrophy type 1
What is the gold std to differentiate epileptic sz from non-epileptic attack disorder
Video telemetry
Features of central cord syndrome?
Weakness which is more pronounced in the upper limbs than the lower
Sensory loss may also be present
Features of Brown Sequard syndrome
Ipsilateral corticospinal (power) and dorsal column (proprioception) loss Contralateral spinothalamic (pain and temperature) loss
Bitemporal hemianopia where is the lesion?
Optic chiasm
Homonymous hemianopia where is the lesion?
Optic tract
Homonymous hemianopia with macular sparing/sparing of central vision, where is the lesion?
Occipital cortex
Tongue biting can be present on pseudoseizures T/F
T - tongue biting is not a good way to differenciate pseudo from true sz
Features of cataplexy?
Loss of muscle tone without loss of consciousness
Usually occur in assoc with narcolepsy
Night terrors are common in adolescents T/F
F - the typically present around 5 yrs old and rarely persist into adolescence
What is the recurrence rate for ADEM?
About 2-4%
What percentage of patients have long term sequelae post ADEM?
Less than 1/3
Rett syndrome is assoc with what pulmonary abnormality?
Abnormal breathing pattern - during wakefullness patients have periods of hyperventilation followed by hypoventilation/apnea
Note: it is also associated with microcephaly and increased risk of sudden cardiac death
DDx of complete vision loss with preservation of light reflexes and an otherwise normal neuro exam?
Cortical blindness vs conversion disorder
Tramline calcifications on skull xray, what pathology?
Sturge Weber
What is the first line treatment of spasticity assoc with CP?
Referral for physical therapy
If child has discomfort, pain, muscle spasms and of worsening of function can start baclofen but usually start with PT first
Children with albinism can have congenital nystagamus
T
Signs of increased ICP and cerebellar signs, likely aetiology?
Posterior fossa mass
If insidious/long history low grade astrocytoma
If more acute medulloblastoma
Typical exam findings in neurogenic shock
Hypotension with bradycardia or an inappropriately normal HR and warm peripheries
They have lost sympathetic response
What age would you use play audiometry vs pure tone audiometry for hearing tests in children?
Play audiometry : 2-5 yrs
Pure tone: school age children and older
Age for distraction testing for hearing in children?
8 months to 1 yr old
Note: child must be able to sit unsupported
What is the initial presentation of ataxia telangiectasia?
Child is late at starting to walk
Note: 30% of these patients will have epilepsy
What is the cause of macrocephaly in achondroplasia?
Hydrocephalus is commonly due to stenosis of the foramen magnum
What is the 1st line treatment for benign partial epilepsy of childhood/rolandic seizures?
Do not need to treat unless episodes are frequent
If frequent use carbamazepine
Treatment of infantile spasms?
1st Steroids or ACTH - it is not clear which is better
If tuberous sclerosis vigabatrin is 1st line
1st line treatment for generalised seizures?
Valproate
ADEM risk factors?
1-20 days post viral infection Post vaccination (MMR)
How often should medications to abort a headache be used?
No more than 3 times a week
What is the management of medication overuse headache?
Complete and abrupt withdrawal of the medications
Which is better to use for treatment of acute migraine headache ibuprofen or paracetamol?
Ibuprofen is better than paracetamol
Note: triptans are also good
What is Kugelbery Walender disease AKA
Spinal muscular atrophy type 3
When do patients with Duchenne Muscular Dystrophy become symptomatic?
In toddler age, normal at birth and infancy
Note: Becker Muscular dystrophy will not present until adolescence
Most patients will juvenile myoclonic epilepsy will grow out of it and no longer need treatment in adult years T/F
F - most patients will need life long treatment
What is communicating hydrocephalus AKA?
Non obstructive
Note: bacterial meningitis is a cause due to thickening of leptomeninges leading to reduced CSF absorption
When does Friedreich’s ataxia typically present?
Onset of ataxia is typically around 10 yrs old (between 5-15 yrs)
Note: intelligence is preserved
When does ataxia telangiectasia typically present?
Around 2 yrs old
Also have nystagmus and decreased IgA
How does Abetalipoproteinaemia present?
Failure to thrive and steatorrhoea
Note: ataxia occurs later in childhood, Vit E is undetectable
What is the most common cause of shunt failure in children?
Obstruction - occurs in around 40% of children within 2 yrs of shunt insertion.
Infection and abdo complications are less common
Night terrors vs nightmares, timing and recollection?
Night terrors - occur within first 3 hours of sleep, no recollection
Nightmares - during 2nd half of night and are well remembered
Sleepwalking is rare in prepubertal children T/F
F - commonly occurs in age 3-10 yrs, affects 30% of children
Waiters tip deformity is seen in what injury?
Upper brachial plexus Erb-Duchenne (C5-6)
Note: lower brachial plexus is Klumpke (C8-T1)
Port wine stain is associated with what neuro abnormality?
Sturge Weber
Note: in particular on face. Hence risk of glaucoma and/or leptomeningeal angiomatosis (that may cause seizures)
Patients with Tuberous sclerosis are at increased risk for infantile spasms T/F
T
Patients with myasthenia gravis are most likely to have what antibodies?
Antibodies to Acetylcholine receptors
What is the first line treatment for juvenile myoclonic epilepsy?
Sodium valproate in males
Topiramate in females
Cerebellar signs and a resting tremor is most likely Wilson’s disease in a teenage T/F
T
3 yr old with myoclonic jerks, optic atrophy and progressive dementia. Bone marrow biopsy shows lipofuscin. What disease?
Batten
What is symptomatic epilepsy?
Epilepsy occurring as a symptom of an underlying problem (eg HIE, infection, structural brain malformation or metabolic disorder)
Patient’s with what type of epilepsy are high risk for SUDEP? (sudden unexplained death in epilepsy) ?
Symptomatic epilepsy (cause is known eg head injury), 20x increased mortality compared to those with other types of epilepsy.
Note: poor AED compliance does not seem to be a risk factor
Other RFs: prone sleep and early onset epilepsy
According to the NICE guidelines for treatment of epilepsy if initial AED is not successful?
Should still attempt monotherapy - start the 2nd AED and then gradually wean off the first one
Ovarian teratoma is assoc with what neurological pathology?
Anti- NMDAR encephalitis
Note: about 1/3 of girls aged 14-18 years old with anti-NMDAR encephalitis are found to have an ovarian teratoma (paraneoplastic teratoma)
Bells palsy upper or lower motor neurone lesion?
Lower
Bells palsy responds well to steroids T/F
F - evidence is limited in children
What is the typical triad of symptoms with craniopharyngioma?
Headache
Visual disturbance
Hormone imbalances
Compare the timing of neonatal vs perinatal deaths?
Neonatal - death within first 28 days of life
Perinatal - still births plus death within 1st 7 days of life
Note: still birth = in utero death after 24 weeks gestation
In a chronic subdural haematoma the trauma to the head is usually minor and often forgotten by the patient T/F
T
What is the earliest feature of a chronic subdural haematoma?
Headache
Decorticate vs decerebrate posturing
Decorticate: “mummy posture” - bent arms and outstretched legs
Decerebrate: extensor posturing
Main way to differentiate breath holding spells from reflex anoxic seizures (pallid spells or reflex asystolic syncope )
Breath holding spellings: apnea and then loss of consciousness
Reflex anoxic seizures: loss of consciousness and then apnea
Note: both can be triggered by similar things
Reflex anoxic seizures have a poor prognosis T/F
F - they are self resolving and development is normal
Myotonic dystrophy is associated with what in addition to myotonia and weakness?
Diabetes, cardiac abnormalities, club feet and cataracts
Note: if the mother is affected and so is her newborn it is referred to as congenital myotonic dystrophy.
Weakness tends to spare proximal muscle groups
Carbamazepine is the first line treatment of juvenile myoclonic epilepsy. T/F
F - it is not recommended for myoclonic jerks
Female: topiramate
Male: valproate
What is the ideal head positioning in a patient with raised ICP?
Head elevated 20 degree and in midline (Aids venous drainage)
Defining characteristics of a pt in a permanent veg state?
Brainstem function is still intact, normal resp effort and circulation
Cortical functioning has been significantly impaired or lost
NB: these patients cannot be legally declared dead
Are night terrors are associated with significant autonomic arousal?
Yes - sweating, tachycardia and pupillary dilation
During a night terror a child is easily roused and comforted T/F
F - difficult to fully rouse, do not respond to communication; often inconsolable
What AEDs are most likely to cause neural tube defects?
Valproate, carbamazepine and phenytoin
What type of mutation leads to congenital myotonic dystrophy?
A trinucleotide repeat
Note: AD and shows anticipation, gene is DMPK
What AED is known to cause visual field defects
Vigabatrin - rarely both eyes
Note: lamotrigine and carbamazepine are known to cause visual disturbances such as diplopia
70% of patients with Dravet syndrome have a mutation in what gene?
SCN1a
Typical presentation of Dravet syndrome?
Seizures usually start within 1st year of life, often associated with a fever and often a prolonged seizure that effects one side of the body.
Usually are initially developing normally and start to regress around 2 yrs old
Commonest cause of hypertension in NF1?
Renal artery stenosis
Can also be essential or due to pheochromocytoma
What is the mechanism of action of vigabatrin?
Inhibits breakdown of GABA (NB does not function at the GABA receptor)
What is the mechanism of flumazenil?
Antagonist at the GABA receptor
Note: benzo and barbiturates are agonists at the receptor
Tetrad of features in classic narcolepsy?
- Excessive daytime sleepiness
- Cataplexy (generalised muscle weakness leading to partial or complete collapse)
- Hypnagogic and/or hypnopompic hallucinations
- Sleep paralysis
What is the mechanism of action of phenytoin?
Inhibits voltage gated Na channels
What is the mechanism of action of ethosuximide and zonisamide?
T type Ca channel blocker
Which is associated with decreased facial expression spinal muscular atrophy or congenital myotonic dystrophy?
Congenital myotonic dystrophy
What is the commonest form of adrenoleukodystrophy? What age does it usually present?
Cerebral
Age 5-8 yrs
Friedriechs ataxia vs cerebral adrenoleukodystrophy
FA: 5-15 yrs old at presentation, progressive ataxia and spasticity, can have extensor plantar responses but lower limb reflexes are typically absent. Preserved intelligence
Cerebral ADL: 5-8 yrs old at presentation, behaviour change and alternation in gait, upper motor neuro signs, results in neuro degeneration
Hepatic dysfunction is a side effect of topiramate T/F
F - hepatic dysfunction is one of the main SEs of valproate
Patients on topiramate are advised to maintain adequate hydration. Why?
Due to increased risk of nephrolithiasis
In order to diagnosis menstruation associated migraine how many consecutive menstrual cycles does the headache need to be associate with?
2 out of 3 consecutive cycles
A slow spike-and-wave pattern is seen on EEG in what pathology?
Lennox Gastaut
Can also have widespread background slowing and “generalised paroxysmal fast activity”
What is the typical natural history of neonatal myoclonus?
Starts within a few days of life and resolves by 3 months
Happens when they are sleepy/falling asleep and stop when woken.
Ciprofloxacin can lower seizure threshold T/F
T
Note: it can also interact with phenytoin
Rapidly increasing head circumference is often the first sign of Rett syndrome T/F
F - the opposite, deceleration of head growth
Criteria for diagnosis of Tourette’s syndrome?
Multiple motor and vocal tics for at least one year (although do not need to be present concurrently)
No tic free period > 3 months
Onset prior to 18 yrs
No underlying medical condition
When Tourette’s typically present?
< 7 yrs old
Note: severity peaks around 10 -12 yrs
Risperidone is indicated in the treatment of irritability associated with Autism Spectrum Disorder T/F
T
Note: Indicated in ages 5 - 16 yrs
Aripiprazole can also be used in age 6 - 17 yrs
NSAIDs can increase serum lithium levels T/F
T - NSAIDs decrease the renal clearance of lithium, hence increasing the serum levels
Common presentation of bilateral acoustic neuroma?
Tinnitus
Unsteady gait
Hearing loss
Facial weakness
Features of NF 2
Bilateral or unilateral acoustic neuroma
Plus 2 or more of: meningioma, glioma, schwannoma, juvenile or cortical wedge cataract
Note: freckling, cafe au lait spots and lisch nodules are not typically present. Theses are features of NF 1
In the setting of head trauma a lucid period followed by rapid deterioration to a near comatose state is typical of what pathology?
Epidural haematoma
Note: epidural haematoma enlarges much faster than subdural. Epidural is middle meningeal artery bleed and subdural is a venous bleed
Compare benign neontal seizures to infantile spams
Benign neonatal: presents around 4-6 days old, lasts 1-3 minutes, often tonic and may be unifocal or multifocal, excellent prognosis remit on their own with no associated developmental delay
Infantile spams: present around 3-7 months, flexor or extensor seizures, only last seconds but clusters of > 100/day, poor prognosis and developmental delay
Marcus Gunn phenomenon is due to abnormal innervation of which nerves?
Trigeminal (controls muscles of mastication)
Oculomotor (controls levator palpebrae superioris)
AKA jaw winking phenomenon
Transverse myelititis is sometimes proceeded by non specific symptoms T/F
T
It is often associated with infection eg EBV, mumps, rubella, varicella, influenza, mycoplasma and Borrelia burgdorferi. Autoimmune aetiology is thought to be involved in other cases
What are the CSF findings in transverse myelitis?
Mild lymphocyte pleocytosis
Normal or slightly elevated protein
X linked adrenoleukodystrophy is due to accumulation of what?
Very long chain fatty acids
Note: it is often initially mis diagnosed as ADHD
Accumulation of sulphated glycosphingolipids is seen in what disease?
Metachromatic leukodystrophy.
Presents earlier to X linked leukodystrophy (1-2 yrs of age vs 7 yrs)
Note: due to a deficiency in arylsulfatase A.
What diseases is Moyamoya associated with in additions to sickle cell?
T 21
NF 1
Collagen vascular disorders
Presentation of moyamoya
Varied. TIA, acute stroke, chronic headaches or new onset seizure
Pes cavus is associated with what neurological disease?
Charcot Marie tooth (AKA hereditary motor sensory neuropathy)
Guillan Barre may be associated with autonomic dysfunction T/F
T - bradycardia, dysrhythmias and labile BP
CSF finding in Guillan Barre?
Elevated protein
N glucose and N WBC
Most common risk factors for sinus venous thrombosis in an infant?
Infection
Dehydration
Presentation of sinus venous thrombosis?
Diffuse or focal neuro defects Seizures (common) Headache Lethargy N + V Signs of increased ICP
Differentiate Soto syndrome from Marfan’s in terms of growth?
Marfan’s: increased growth velocity continues through adolescence
Soto: growth velocity normalises by 5 yrs
Soto syndrome is associated with hypotonia and poor feeding T/F
T
Other features: macrocephaly (at birth), increased growth velocity, large hands and feet, prominent forehead, down slanting palpebral fissures, hypertelorism, high arches palate, ASD or PDA, aggression
Which AED is known to cause hyperammonemic encephalopathy?
Valproic acid
What AED is known to cause acute-angle closure glaucoma?
Topiramate
Which vit deficiency is associated with neonatal seizures that are resistant to traditional AEDs?
Vit B 6
Note: AKA pyridoxine; this vit is required for the synthesis of GABA
Diagnostic test and mgmt of idiopathic intracranial HTN?
Diagnosis: CT and then LP
Mgmt: carbonic anhydrase inhibitors
Individuals with Friedreich ataxia have a high prevalence of what AI disease?
Diabetes
About 20%
6 week old with poor growth, hypoglycaemia, nystagmus, micropenis and direct hyper-bili. Diagnosis?
Septo-optic dysplasia
Note: hypopit is must often seen as growth hormone def. Imaging would show genesis of the septum pellucidum. Vision ranges from normal to complete blindness
Headaches that are primarily occipital are an indication for imaging T/F
T
Developmentally normal child
Seizures generally occur at night
Usually simple focal motor seizures, often involve face
Often sensory paraesthesia, drooling, grunting
Benign epilepsy with centrotemporal spikes
Internal carotid artery dissection can present with Horner syndrome T/F
T
Note: may also present with ipsilateral headache, neck pain or eye pain
Excessive Vit A is a risk factor for idiopathic intracranial HTN T/F
T
Other RF: increased BMI; OCP; tetracycline and isotretinoin; prolonged use or rapid withdrawal of corticosteroids
Oxcarbazepine can cause what electrolyte disturbance? What is the management?
HypoNa
Mgmt: usually asymptomatic and requires no tx. If symptomatic or Na < 120 a reduction in dose and/or mild fluid restrictions usually returns Na to an acceptable level
What nerve palsy if often seen in increased ICP?
6th nerve (abducens)
Tongue fasciculations in a floppy neonate?
SMA type 1
Note: no fasciculations in congenital muscular dystrophy
What is the most common cause of CP?
Prematurity
