Neurology Flashcards
Tay Sachs disease most linked to who
Jewish
Normal bladder volume equation
(Age + 2) x 30
Athetosis is
Involuntary writhing
Mortality of epileptic vs normal population
2-3 x higher
SUDEP accounts for what percentage of all epilepsy related deaths
17%
Ohtahara EEG pattern
Burst suppression
Infantile spasm EEG
Hypsarhythmia with burst suppression events
Childhood absence EEG
High amplitude generalised 3Hz spike and slow wave activity
(Childhood 3-10 y, 8+ juvenile)
Valproate/ethosuximide
Benign focal epilepsy presentation and EEG and treatment (benign rolandic)
Centro-temporal spike and wave
[or occipital spike and wave in benign occipital or papayiotopoulos with eye deviation pallor vomit 20min when wake from sleep]
Nocturnal partial seizure face/tongue/speech
Epilepsy remits by mid teen
Carbamazepine (lamotrigine, levetiracetam, valproate)
CSWS EEG
Continuous spike and wave in slow wave sleep
LKS EEG
Continuous temporal spike and wave
Juvenile myoclonic epilepsy presentation and EEG and treatment
Myoclonic jerks after waking
Brief burst 4-6Hz and burst polyspike
Valproic acid (lamotrigine, levetiracetam)
Lifelong epilepsy
Infantile spasm treatment
ACTH prednisolone
Vigabactrin (TS)
Ketogenic diet
Dravet syndrome Tx
Valproate clobazam
Ketogenic diet
(Severe myoclonic epilepsy of infancy 1-4y with developmental arrest and slow EEG)
Lennox gastaut tx
Valproate and clobazam
(Rufinamide, felbamate, ketogenic diet)
(2-8y) multiple sz type, drop attacks, EEG slow
Landau -kleffner syndrome
Acquired epileptic aphasia, regression in language, 2-8y, behaviour, EEG continuous status of sleep, difficult to treat
Tics
4-24% more male and median onset 6-7 and most resolve by 18
Can manage with clonidine
Incidence of TS
1/5800
Genetics of TS
Dominant, 75% new, TSC1 hamartin 20%, TSC2 tuberin (60%)
Clinical features of TS
Hypomelantic lesions (present at birth) 90% Facial angiofinromas 75% 2-5y Unbalanced finroma Shagreen patch Dental enamel pits Intraoral finromas Retinal hamartoma Achromic retinal patch Cortical dysphasia and supepemdymal nodules and SEGA
Surveillance in TS
MRI 1-3 y for renal angiomyolipomas, SEGA monitor, clinical screen LAM, annual eye check, check BP, echo 1-3 y
Treat with mTOR inhibitor
Bony (sphenoid) dysphasia or bowing long bone criteria for..
NF 1
Triad sturge-weber
Sporadic, 1/50000 (Venous angioplasty of leptomeninges present by 1y) Portwine Ipsolateral leptomeningeal angioma (sz) Glaucoma 30-70%
Incontentia pigmenti genetics
XLD Xq28 1/100000 Mutation in nuclear factor kappa B signaling path 80% deletion NEMO exons 4-10
Hypotonia with weakness
Neuromuscular disease
Hypotonia without weakness
CNS
Chromosomal
Syndromes
Metabolic
Myopathic facies
Flat face no expression
SMA genetics
Lack of Survival of Motor Neuron (smn) due to smn1 deletion .–> widespread splicing defects
Amount of smn protein depicts severity
SMA types
0: birth onset (by 6m), tongue fasiculations, alert face, areflexic, breath and feed issues, die by 2y
1: 60-70%, never sit
2: never walk
3: walk (survive into mid adulthood)
Homozygous exon 7 deletion
Zellweger syndrome
Newborns with Zellweger syndrome present with a characteristic craniofacial dysmorphism. Neurologic abnormalities include hypotonia and weakness with absent reflexes, severe impairment of hearing and vision, neonatal seizures, and developmental delay. Hepatomegaly is common.
Dystrophy vs myopathy
Dystrophy high CK cf minimal in myopathy
Dystrophy often abnormal extra cellular protein cf intracellullar in myopathy
Incidence DMD and Becker
dMD 1/3000 and Becker 1/30000
Occ affects females with turners or skewed x lyonisation
Myotonic dystrophy genetics
AD variable penetrated and expression with anticipation (19q13)
Christmas light cataracts, testicular atrophy, hypothyroidism, arrhythmia, striated muscle weakness
Congenital myopathies
Weak, myopathic facies, bulbar dysfunction, cognition normal
Congenital fibretype disproportion Nemaline rod Central core Centronuclear Minimulticore Other
Neuropathy clinical presentation I.e CMT1 (palpable nerves with onion bulbs)
Progressive deformity feet Pain on walking Progressive distal weakness and muscle wasting Gait disturbance Difficulty walking in dark
CMT 2 nerve pathology
Axonal degeneration produces decreased amplitude of nerve action potential on nerve conduction studies
Treatment for transient neonatal myasthenia
Neostigmine
Most common complication of NF1
Scoliosis 10-20%
Seizures 5%
NF1 order is apperance
CAL at birth (uncommon in NF2)
Freckling
Lisch
Neurofibromas
TS order of features
Hypomelatonic macules Forehead plaque Sebaceous adenoma Shagreen patch Subungal fibromas
Adrenoleukodystrophy
XL
VLCFA ratio demyelinates CNS and adrenal damage
Krabbe
Severe myelin destruction
Deaf blind lose reflexes
Die by 2
Leigh
Deteriorate in infancy
Holes in brain
Lactate on CSF
Metachromic leukodystrophy
AR, lysosomal storage disease Ataxia Areflexia Dev regression Sz Symmetrical white lesions MRI
Rett
Males die MECP2 gene on x Most spontaneous Regress 6m Impaired expressive language Hang wringing Gait abn
CN palsy presenting with ptosis, inability to rotate eye up and inward dilated unreactive pupil and paralysis of accom
III
Vein of Galen aneurysmal malformation presentation
Vein of Galen aneurysmal malformation (VGAM) is a type of arteriovenous
malformation that typically presents with high output cardiac failure in the neonatal
period or infancy. Hydrocephalus, signs of increased intracranial pressure, seizures, and
developmental delay can be present in infants and older children. Hemorrhage on
presentation is rare.
Vertical nystagmus ? Normal or cause
Vertical nystagmus can be caused by Chiari I malformation and is never
normal; evaluation for brainstem abnormality is required.
Early sign of uncap herniation is
Third nerve palsy (dilated unresponsive pupil)
Unstable in dark room
Fredericks ataxia
Opsoclonus myoclonus ataxia associated with?
Neuroblastoma
Idiopathic (previously benign) intracranial HTN/pseudotumour cerebri caused by what two drugs
Tetracycline
Isotrenotoin
Childhood seizures, Frequent drop attacks sig problem for care
• EEG slow spike & wave, <2.5Hz
• Usually assoc with profound retardation
? Syndrome
Lennox-gustaut
Stereotyped Clusters of motor seizures, often nocturnal
• Brief (<30sec), sudden onset
• Minimal post-ictal confusion
• Bizarre complex prominent motor activity
• Prominent vocalisation common
Cause?
Frontal lobe sz
Tic treat if QOL affected with
Clonidine
Myopathic fancies associated with
Myopathies and myasthenia gravis
SMA genetics
homozgyous for exon 7deletion
– <5% have a point mutation in the SMN1 gene
Floppy infant but face bright think…
SMA
Congenital muscular dystrophy face not weak
Posterior subcapsular cataracts or Christmas lights cataracts associated with what
Myotonic dystrophy
Treat neonatal MG with
Neostigmine
Weak facial, shoulder and arm muscles cause?
Facioscapulohumeral muscular dystrophy
Gene test in SMA
Survival muscle number (SMN1 copy number)
Most common brain cancer in children
Astrocytoma
Simple person test scoring
Face (circle) for 3y then add 3m for every feature after that
Can ride TRIcycle at 3y
Normal child object permanence mastered by
15m
In which disease are there protein deposits known as Rosenthal fibers found in specialized cells called astroglial cells?
Alexanders disease
Stack 6 blocks age
2
What disorder
The first sign is usually slurring of the speech (impaired tongue movement).
Wasting and fasciculation of the tongue.
Dysphagia (usually a late feature with significant speech difficulties).
Accompanying emotional lability (inappropriate laughing or crying) - as with pseudobulbar palsies.
Other symptoms are difficulty eating, drooling, dysarthria, dysphonia, choking events with meals, nasal regurgitation of fluids or pulmonary aspiration.
Bulbar onset of anterior horn cell disorder
Actions of the trochlear, abducens, and oculomotor nerves?
SALT ME DOWN: Six Abducts Laterally, Trochlear (CN IV) acts Medially Down. The oculomotor nerve (CN III) is responsible for everything else.
LR6 SO4
Anti NMDA encephalitis look for (especially in females)?
Ovarian teratoma in anti NMDA encephalitis
DMD and Becker gene
Xq21
(Most die by 21)
Frameshift (preserved frameshift in Becker)
Bell’s palsy taste
Taste on anterior 2/3 tongue lost in 50%.
How does botulism work
Inhibition – toxin inhibits the release of acetylcholine, diminishing the endplate potential and causing impaired neuromuscular and autonomic transmission
Child with episodes eye deviation progressing to altered awareness followed by pallor and vomiting that last 20‐30 minutes
Benign Occipital epilepsy
CN nuclei in midbrain, pons, medulla
Midbrain 3,4
Pons 5,6,7
Medulla 8-12
Most common complication NF1
Scoliosis 10-20%
Media use 2-5y recommendations
<=1 hour per day
Neonate seizing and LoW all phos (ALP) need to give?
Pyridoxine as low Alkaline phosphaTASE causes build up of pyridoxine-5-phosphate required for GABA production
Rett syndrome gene?
MECP2
Lacosamide mechnism
na+ channel blocker
Drug for fredreichs ataxia?
Idebenone (coQ10 variant)
Moyamoya disease with TIAs and constriction related to what three conditions
NF1
Sickle cell
Graves
Valproate enzyme inhibitor or inducer
Broad enzyme Inhibitor
Risk of drug toxicity
Displaces phenytoin from protein binding sites
Carbamazepine/phenytoin/phenobarbital and OCP
Decrease its efficacy
Enzyme induced
Sun setting eyes from
Raised ICP and parinaud syndrome is a tumour
What age does ball descend into sack?
By 3 months - if not there refer for surgery 3-6months old
Age can run well
24m
Active and symbolic play with 3 word sentence age of child
3 years
Rufinamide and lacosamide mechanism of action and side ffect
Voltage gated Sodium channel
Dizziness and headache side effect
