Neurology Flashcards
What findings would you seen on nerve conduction studies with Gullian Barre Syndrome?
Slowing of motor and sensory nerve conduction velocities with evidence of conduction block.
________ is an autoimmune disorder that is thought to be a postinfectious polyneuropathy, involving mainly motor but also sensory and sometimes autonomic nerves.
Gullian Barre
An 8-year-old boy with headache and visual disturbance. The headache is preceded by an aura. Changes on his EEG are seen when he closes his eyes.
Gastaut syndrome
A 5-year-old boy who has episodes where he is unresponsive, with reduced tone and vomiting at night. His EEG shows occipital spikes.
Panayiotopoulos syndrome
__________ are products of guanosine triphosphate (GTP) catabolism that result from cellular immune activation by pro-inflammatory cytokines.
Neopterins
Scaphocephaly is premature closure of _______ suture
Sagittal
Boathead
Brachocephaly is premature closure of ______ suture
bilateral coronal - flat head
Trigonocephaly is premature closure of ______ suture
Metopic suture
Oxycephaly is premature closure of ________ suture
Coronal and sagittal sutures
Klebbatschadel is premature closure of _______ suture
Metopic, lambdoin and coronal
What is the oculocephalic reflex?
The head is turned briskly from side to side, or up and down, and held briefly at the end each turn. The eyes normally should rotate in the opposite direction to the head.
Evaluates whether brainstem in tact
Myotonic dystrophy can be differentiated from other dystrophies by
It often affects the distal muscles first!
Also normal to mildly high CK
Most common genetic abnormality with CMT?
PMP22 duplication on chromosome 7
What is the EEG finding in Landau Kleffner?
Status in sleep
What is the Epileptic disorder?
Seizures, regression of language at age 6yo
Landau Kleffner
Subgaleal haemorrhage is due to bleeding between the periosteum and the _________ and is due to rupture of which vessels
Bleeding between perioestum and aponeurosis
Due to rupture of emissary vessels
Fluid between the periosteum and scalp is called ________
Caput
Fluid between periosteum and skull is called ______
Cephalo
MECP2 gene mutation associated with _________.
And what is the inheritance pattern?
Rett syndrome.
XLinked Dominant
The hallmark of Rett syndrome is _______________
Repetitive hand-wringing movements and a loss of purposeful and spontaneous use of the hands; these features may not appear until 2-3 yr of age
Anti-NMDA encephalitis can be triggered by ________
Mostly sporadic, but can be triggered by tumours or HSV encephalitis
Encephalitis with mGluR5 antibodies (Ophelia syndrome) has an association with _______
Hodgkin Lymphoma
With Myelomeningocoele risk of recurrence is _______
the risk of recurrence after one affected child is 3–4% and increases to 10% with two prior affected children
Fasciculations occur with ___________
Fasciculations occur with anterior horn cell damage
_________ (AED) can increase the concentration of Carbamazepine. Whereas Carbamazepine lowers the concentration of this said drug.
Lamotrigine
Lamotrigine concentrations are increased by ________ (AED); thus lower dose needed
Valproate
increased half life because they both compete for glucuronidation - competitive enzyme inhibition
What is the difference between Chiari type I and Arnold Chiari (Type II)?
Chiari 1 - Herniation of cerebellar tonsils. Tonsillar ectopia below the foramen magnum, with greater than 5 mm below
Chairi II - Beaked midbrain, and downward displacement of cerebellar vermis and tonsils; assoc. with myelomeningocele
Chiari Type I associated with _______
Connective tissue disorders, Syringomyelia
DDx for Bilateral centrotemporal spikes and sharp waves
1, bening rolandic epilepsy
- Landau-Kleffner - associated with language regression
- Epileptic encephalopathy with continuous spikes and waves during sleep (CSWS)
Slow spike and wave on EEG is associated with _______
Lennox-Gastaut syndrome
advancement of West Syndrome
What medication is associated with worsening seizures in Dravet syndrome?
Lamotrigine
_______ syndrome (Epileptic seziure disorder) can be mistaken for migraines. What are some of it’s features?
Gastaut syndrome
Gastaut syndrome can be mistaken for migraine but has EEG changes similar to Panayiotopoulos syndrome. Unlike Panayiotopoulos syndrome, seizures occur during the day and EEG changes are activated by eye closure
Narcolepsy with cataplexy (type 1) is thought to be related to a specific deficit in the hypothalamic ___________ neurotransmitter
orexin/hypocretin
Diagnostic tests for Narcolepsy:
- Questionaire?
- To exclude other diagnosis?
- To confirm narcolepsy?
- Lab markers?
Questionaire: Modified Epworth Sleepiness Scale (to investigate need for evaluation)
To exclude other diagnosis:
Polysomnomgram
To confirm narcolepsy: Multiple sleep latency study
Lab markers: low CSF hypocretin levels
Most common cardiac complication in NF1?
Pulmonary stenosis
What are 4 common causes of Bells palsy?
- Idiopathic
- Herpes simplex virus type 1* (Ramsay Hunt)
- Varicella-zoster virus*
- Lyme disease
Which of the following is seen in Bell’s palsy:
T/F:
- Taste in the posterior third of the tongue is lost
- Lacrimation is spared.
- Facial numbness and paresthesias are common
Taste on the anterior two thirds of the tongue is lost on the involved side in approximately 50% of cases;
- This finding helps establish the anatomic limits of the lesion as being proximal or distal to the chorda tympani branch of the facial nerve.
- Lacrimation is spared.
- Facial numbness and paresthesias are rare, but when present suggest concomitant involvement of the trigeminal nerve.
Which cranial nerve is responsible for facial sensation and mastication?
Trigeminal nerve (Cr nerve V)
Taste from anterior ⅔ of
tongue
(chorda tympani) is due to the _______ nerve
Cranial nerve 7
What are the three key functions of Cranial nerve 9?
- Taste and sensation of posterior ⅓ of tongue
- Monitoring of carotid body and sinus chemoreceptors and baroreceptors
- Elevation of pharynx/larynx
Which nerve is responsible for :
- Parasympathetic innervation to thoracoabdominal viscera
- Monitoring aortic arch chemoreceptors and baroreceptors
- Swallowing/coughing/speech?
Vagus nerve (X)
Tongue movements are controlled by:
Cranial nerve XII
___________ is characterized by bilateral facial weakness, which is often associated with paralysis of the abducens nerve.
Hypoplasia or agenesis of brainstem nuclei, as well as absent or decreased numbers of muscle fibers, has been reported.
Mobius syndrome
The facial appearance of Möbius syndrome has been improved by facial surgery.
_____________ is characterized by congenital limitation of horizontal globe movement and some globe retraction (and ptosis) on attempted adduction and is believed to be the result of abnormal innervation by the oculomotor nerve to the lateral rectus muscle.
Duane retraction syndrome
The incidence of SMA is estimated to be 1 in 6,000-10,000 newborns, with a carrier frequency of approximately _______
1/40-1/60
SMA is caused by a homozygous deletion in the __________ gene on chromosome 5q13.
Ongoing function/subtyping depends on _____-
survival motor neuron 1 (SMN1
Subtyping depends on number of genes
SMA type ___ is the most common with life expectancy between:
SMA Type I is the most common
Type IA - life expectancy 6months
Type IIA - life expectancy <2 yr
SMA type II are known as the _______.
What are 5 common signs and symptoms seen?
Known as sitters
- Proximal weakness, hypotonia
- Postural hand tremor
- Hyporeflexia
- Average or above-average intellectual skills by adolescence
- Scoliosis
What is the function of SMN gene?
The survivor motor neuron gene (SMN) arrests apoptosis of motor neuroblasts.
A surplus of motor neuroblasts and other neurons is generated from primitive neuroectoderm, but only about half survive and mature to become neurons; the excess cells have a limited life cycle and degenerate. If the process that arrests physiologic cell death fails to intervene by a certain stage, neuronal death can continue in late fetal life and postnatally.
Kugelberg-Welander disease is the mildest SMA (type III), often presents after _____
18mo
What is the current gold standard testing for SMA?
The current gold standard is SMN1 deletion/mutation and SMN2 copy number testing, with a minimal standard of SMN1 deletion testing.
The absence of SMN1 ___________ confirms the diagnosis of SMA.
exon 7 (with or without deletion of exon 8)
The critical difference between SMN1 and SMN2 is a ________ to ________ transition in exon 7 of SMN2
The critical difference between SMN1 and SMN2 is a cytosine (C) to thymine (T) transition in exon 7 of SMN2
What does NBST look for with SMA?
DNA extraction - PCR - to identify homoxygous SMN1 deletion
How does nusinersen work?
It modifies the splicing of SMN2 by inducing an increase in exon 7 retention in SMN2 pre-mRNA, which finally allows a protein product similar to SMN1.
Signs and symptoms of cholinergic excess?
DUMBBELS
Diarrhea/defecation, Urination, Miosis, Bronchorrhea/bronchospasm, Bradycardia, Emesis, Lacrimation, and Salivation
What is the risk of cerebral palsy from Pirie cephalon cyst?
60-70%
How do you differentiate grade 2 and grade 3 IVH?
Grade 2 and grade 3 have intraventricular haemorrhage, but in grade 3 you have ventricular dilatation.
What is periventricular leukomalacia?
It is white matter Injury to the brain. Initially presents as flare and progresses into cysts in 6 weeks
Poroencephalic cyst predisposes you to which type of cerebral palsy?
Hemiplegia
Which medication is associated with worsening seizures in Dravet syndrome?
Lamotrigine (avoid sodium channel blocker)
Phenytoin
Carbamazepine
Heterozygous loss of SCN1A gene leads to ….
Dravet syndrome
(abnormality in sodium channel - NAV1.1
What is the first line treatment for Dravet syndrome?
Valproate, Topiramate, ethosuximide, Keppra
What is the seizure disorder?
<10mo with prolonged hemiconvulsive seizures; initially febrile -> then febrile and afebrile.
Dravet syndrome
What are three common anti-seizure medication that are sodium channel blockers?
Carbamazepine (tegretol)
Lamotrigine
Phenytoin
Glutamate is excitatory or inhibitory NT?
Excitatory
For those of south east asian background - which HLA type would you need to check before starting Carbamezepine?
HLA B12 (SJS/TENS risk) - asian more so
HLA A31:01 (DRESS) - Scandinavian background more so
Which antiepileptic drug:
- Dose dependent enzyme inhibitrion of GABA transaminase (thus increased GABA)
Vigabitran
Which antiepileptic drug:
- Blockage of voltage gated sodium channels and increased GABA( by inhibiting GABA degradative enzymes +/- inhibiting reuptake of GABA)
Na Valproate
How does Clobazam work?
Facilitates GABA-ergic transmission
_____ waves (on EEG) are seen in metabolic (hepatic) or other diffuse encephalopathy
Triphasic waves
on EEG - Diffuse fast beta activity is associated with ?
Typically drug induced
What are the two most common drugs that can leads to congenital malformation?
Valproate - NTD (dose dependent)
Lamotrigine - Clefts
____ of kids with febrile seizure will have recurrence of febrile seizure
30% will have recurrence of febrile seizure (50% of these in the first year)
Risk factors for recurrent febrile seizures?
- Temperature <39
- Brief duration of recognised fever
- Age <18months
- First degree family history of febrile seizures
How does Panayiotopolus syndrome (focal autonomic nervous system) typically present?
- Autonomic - vomitting, dilated pupuils, high or low heart rate, salivation, eye deviation -> can progress to GTCS and become prolonged seizures.
- 2/3 begin in or near sleep
- Often common to have frequent miltifocal spikes in the occipital region
- Normal history, development and examination generally
How do you differentiate Gastaut Occipital epilepsy and Panayiotopolus syndrome?
Both can have occipital changes on EEG
Gastaut - more visual seizures, day and night; eye deviation and orbital pain. Seizure can. Sound like migraines. Worse long term outcomes.
Panayiotopolus: Autonomic - vomitting, dilated pupuils, high or low heart rate, salivation, eye deviation -> can progress to GTCS and become prolonged seizures.
- 2/3 begin in or near sleep
What is the treatment of choice for Gastaut occipital epilepsy?
Carbamazepine - good for focal seizures
SLC2A1 mutation linked to …
how do you treat?
Glut-1 Deficiency
Treat with Ketogenic diet
Sexually active girl with focal seizure…AED of choice?
Keppra then Lamotrigine or Carbamazepine
Common presentation for PRES?
Encephalopathy Altered consciousness Hypertension Epileptic seizure Visual disturbances headache
KCNQ2 is associated with….
1) Benign familial neonatal epilepsy - mild
(present D2-D8 and disappear by 12mo - treat with phenobarbitone)
2) Neonatal epileptic encephalopathy (severe)
((More severe seizures, harder to treat and more D; Rx: Na Channel blockers should be first line)
‘Epilepsy of infancy with migrating focal seizures’ and ‘AD-noctural frontal lobe epilepsy’ are associated with which gene defect?
KCNT1-related epilepsy
RYR1 missense mutation is associated with…
Central core disease (congenital myopathy)
Malignant hyperthermia susceptibility is associated with which type of neuromuscular disorder?
Congenital myopathy - linked to RYR1 gene mutation
Malignant hyperthermia occurs due abnormalities in which channel?
Ca channel influx of Ca leads to symptoms
RYRY1
In MRI - white matter changes with ‘tiger’ like stripes =
MLD
How does ADEMs typically present?
Encephalopathy + polyfocal neurological changes
Common neurologic signs in ADEM include visual loss, cranial neuropathies, ataxia, and motor and sensory deficits, plus bladder/bowel dysfunction with concurrent spinal cord demyelination.
Often have a viral infection in the months prior to infection
Which disease?
Cranial MRI, the imaging study of choice, typically exhibits bilateral, large, multifocal, and sometimes confluent, edematous mass-like T2 lesions with variable enhancement within white and gray matter of the cerebral hemispheres, cerebellum, and brainstem
ADEMs
In the following conditions how elevated is the CK level?
- Spinal muscular atrophy?
- Muscular dystrophy?
- Congenital myopathy?
Spinal muscular atrophy - can be normal, but usually 2-4 fold elevated
Muscular dystrophy - high thousands
Congenital myopathy - normal or very mildly raised
Which anti-epileptic can create visual field constriction from peripheral retinal atrophy, optic neuritis, vision loss (rods > cones, therefore night vision mostly affected)?
Vigabatrin
Basal ganglia calcifications - two main things?
Aicardi Goutieres syndrome Or CMV
Heart block + ptosis + Chronic progressive opthalmoplegia + hearing loss + proximal muscle weakness
Kearns -Sayre Syndrome
Hypokalaemic, periodic paralysis with QT prolongation
Andersen-Tawil
Salt and pepper pigmentary retinopathy
+ progressive opthalmoplegia
Kearns-Sayre Syndrome
Red ragged fibres on muscle biopsy
Most common early childhood NF-1 related tumour?
1) Benign neurofibroma
2) Optic pathway glioma (15% in children under 6)
Posterior T2 flair anomalies bilaterally?
X-linked adrenoleukodystrophy
Demyelinating disorder
Malignant hyperthermia is associated with which NMD?
Central core myopathy (RyRy gene)
Differences between SJS/TENS/DRESS?
Dress - Eosinophilia, more than 3 weeks past the commencement of drug. More hepatitis and more generalised rash
SJS/TENS - prior to 3 weeks, pseudo target lesion
Most common brain tumour with TsC
Giant cell astrocytoma
Cortical glioneuronal hamartomas and subependymal nodules in 90%
Which antibiotic is contraindicated in a child with Myasthenia Gravis on Pyridostigmine?
Gentamicin
Increased NM blockage - competitively restrains the release of Acetylcholine
Dysfunction of RAS-MAPK pathway?
NF1
Differentiating between ADEM and NMDA encephalitis?
ADEM have more encephalopathy rather than unusual behaviours. Also more focal neurological signs and MRI scan should show some demyelination
2yo old + Nystagmus, hypotonia, and head bobbing =
Pelizaueus Merzbacher
Hypomyelinating disorder
4yo + ataxia + recurrent falls + absence and myoclonic seizure + cerebellar changes =
Hint: An almost pathognomonic EEG finding is a photoparoxysmal response at low flash frequencies.
Batten disorder
(Neuronal ceroid lipofuscinosis )
CLN2
Regression of milestones with developmental plateau, with motor impairment and seizures difficult to manage.
Can treat with intraventricular TPP1 proenzyme replacement ( ceroliponase alfa)
Hyperextension of the knee, peripheral neuropathy, demyelination in brain + developemental regression
Metachromatic leukodystrophy
Small fiber periphral neuropathy, burning of palms and soles, hypohidrossis + in a boy =
Fabre disease (XLR)
What age does Krabbe normally present?
Usually first six months of life
What is a basic way of differentiating Krabbe disease versus Metachromatic leukodystrophy?
Krabbe is developmental delay and typically patient in first 12 month; whereas Metachromatic leukodystrophy is associated in slightly older kids with developmental regression
2yo + weakness in morning, that slowly improves (warm up phenomenon) + eye muscles + tongue can be involved + episodic
Myotonia Congenita
CK might be slightly raised
CLCN1 gene
Myotonia Congenita
Activation of mTOR =
Tuberous Sclerosis
______ is a neuronal migration disorder =
Lissoncephaly
microcephaly, ventriculomegaly, wide sylvian fissures, complete or partial agenesis of corpus collosum
What part of the brain does an operation for hippocampal sclerosis involve and thus what kind of vision defect does this lead to?
It affects the temporal lobe (mesial temporal lobe epilepsy)
Can lead to a contralateral homonymous superior quadrantanopia
3Hz spike wave
Absence seizures
First opthalmological findings in Idiopathic intracranial hypertension?
Visual field loss
Differentiating SMA and Prader Willi?
No reflexes in SMA
How do you differentiate between Craniopharyngioma and Pituitary adenoma on scan?
Craniopharyngioma often show suprasellar mass with contrast enhancement. Looks like a spider wrapping around
Deficit associated with left hippocampal sclerosis?
Verbal memory
Dysferlin abnormality =
Limb girdle muscular dystrophy
Double homeobox protein 4 gene DUX4 =
Fascioscapulohumeral muscular dystrophy
PMP22 =
Hereditary sensory motor neuropathy (Charcot Marie Tooth disease)
Neuromyelitis optica anomaly is associated with anomaly in which channel?
Aquaporin 4 antibodies
West syndrome is which triad?
Developmental regression + infantile spasm + hypsarthymia
Define childhood absence seizures?
Childhood absence - 6-8yo, misses things and brief absences over course of day (<10sec, LOTS over the day), some automatism, do not lose tone - 3Hz spike and wave
Drug of choice for Absence seizure?
Ethosuximide
2nd line = Valproate
Difference between Juvenile absence epilepsy and childhood absence?
Juvenile - much less frequent (<10), 3Hz spike pattern, Epileptiform activity with light stimulation, tonic -clonic seizure much likely
Childhood absence - 6-8yo, misses things and brief absences over course of day (<10sec, LOTS over the day), some automatism, do not lose tone - 3Hz spike and wave
First line of drug for Juvenile Absence seizure?
Boys - Sodium Valproate (good for tonic clonic and absence)
Girls - Keppra, lamotrigine
Difference between Juvenile myoclonic epilepsy and juvenile absence seizure?
JME - myoclonus early morning (twitching of hands) + everything else in JAE
Sleeping - Sit up, look to the left, motor movement (e.g. scrunch their hands, thrash their hands) and then go back to sleep
Nocturnal frontal lobe epilepsy
Frontal lobe epilepsy/Centro-temporal lobe epilepsy treatment?
Focal seizures - treat with Carbamazepine
If HLA subtype positive -> Clobazam, Kepra
Atypical absence (slow spike wave with longer absence), nocturnal tonic seizures, head drops (tonic seizure).
Often drug resistance
Lennox-Gastaut
Why is sodium valproate contraindicated in young children?
Risk of fatal hepatotoxicity
Epidural haemorrhage often occurs due to injury to ______
They usually develop from injury to the middle meningeal artery
___________ and _________ are the two typical presenting features for neuromyelitis optica
optic neuritis and transverse myelitis as the typical clinical features of neuromyelitis optica
(thus they present with acute loss of vision, lower limb weakness and urinary incontinence and can have RAPD)
Which AED can make juvenile myoclonic epilepsy worse?
Carbamazepine
Bad for abscence seizures generall
___________ is an autosomal recessive leukoencephalopathy seen in infancy/early childhood, presenting with developmental delay from 3-6 months of age then neurodevelopmental regression, acquired macrocephaly, spasticity, seizures and optic atrophy.
Canvan disease
The ketogenic diet is first line therapy in________ and ________
Doose syndrome and GLUT1 deficiency
Toe walking which worsens over the course of the day
Segawa disease
Treat with Dopa
What is the most common anomaly that leads to spastic diplegia cerebral palsy?
Most common cause is periventricular leukomalacia, especially in the area where fibres innervating the legs course through the inner capsule
Which type of cerebral palsy do metabolic disorders predispose you to?
Athetoid cerebral palsy
Which type of cerebral palsy has highest risk of DDH?
Spastic Quadriplegia
CMT gas be associated with axonal loss or demyelination :
- which is more common?
- what is the associated nerve conduction study finding?
DEmyelination is more common!
Demyelination - slow conduction velocity
Axonal loss: Decreased CMAP amplitude
How does Menke disease present?
X linked Recessive disorder due to underlying defecf in copper transport
- progressive neurodegeration
- seizures, hypotonia, feeding difficulty, optix atrophy
- colourless, fragile, breaking hair
- chubby cheeks
- death < 3yo
