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Neurology Flashcards

1
Q

Tay Sachs disease most linked to who

A

Jewish

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2
Q

Normal bladder volume equation

A

(Age + 2) x 30

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3
Q

Athetosis is

A

Involuntary writhing

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4
Q

Mortality of epileptic vs normal population

A

2-3 x higher

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5
Q

SUDEP accounts for what percentage of all epilepsy related deaths

A

17%

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6
Q

Ohtahara EEG pattern

A

Burst suppression

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7
Q

Infantile spasm EEG

A

Hypsarhythmia with burst suppression events

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8
Q

Childhood absence EEG

A

High amplitude generalised 3Hz spike and slow wave activity
(Childhood 3-10 y, 8+ juvenile)
Valproate/ethosuximide

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9
Q

Benign focal epilepsy presentation and EEG and treatment (benign rolandic)

A

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)

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10
Q

CSWS EEG

A

Continuous spike and wave in slow wave sleep

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11
Q

LKS EEG

A

Continuous temporal spike and wave

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12
Q

Juvenile myoclonic epilepsy presentation and EEG and treatment

A

Myoclonic jerks after waking
Brief burst 4-6Hz and burst polyspike
Valproic acid (lamotrigine, levetiracetam)
Lifelong epilepsy

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13
Q

Infantile spasm treatment

A

ACTH prednisolone
Vigabactrin (TS)
Ketogenic diet

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14
Q

Dravet syndrome Tx

A

Valproate clobazam
Ketogenic diet
(Severe myoclonic epilepsy of infancy 1-4y with developmental arrest and slow EEG)

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15
Q

Lennox gastaut tx

A

Valproate and clobazam
(Rufinamide, felbamate, ketogenic diet)

(2-8y) multiple sz type, drop attacks, EEG slow

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16
Q

Landau -kleffner syndrome

A

Acquired epileptic aphasia, regression in language, 2-8y, behaviour, EEG continuous status of sleep, difficult to treat

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17
Q

Tics

A

4-24% more male and median onset 6-7 and most resolve by 18

Can manage with clonidine

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18
Q

Incidence of TS

A

1/5800

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19
Q

Genetics of TS

A

Dominant, 75% new, TSC1 hamartin 20%, TSC2 tuberin (60%)

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20
Q

Clinical features of TS

A 
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
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21
Q

Surveillance in TS

A

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

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22
Q

Bony (sphenoid) dysphasia or bowing long bone criteria for..

A

NF 1

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23
Q

Triad sturge-weber

A 
Sporadic, 1/50000
(Venous angioplasty of leptomeninges present by 1y)
Portwine
Ipsolateral leptomeningeal angioma (sz)
Glaucoma 30-70%
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24
Q

Incontentia pigmenti genetics

A 
XLD
Xq28
1/100000
Mutation in nuclear factor kappa B signaling path
80% deletion NEMO exons 4-10
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25
Hypotonia with weakness
Neuromuscular disease
26
Hypotonia without weakness
CNS Chromosomal Syndromes Metabolic
27
Myopathic facies
Flat face no expression
28
SMA genetics
Lack of Survival of Motor Neuron (smn) due to smn1 deletion .--> widespread splicing defects Amount of smn protein depicts severity
29
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
30
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.
31
Dystrophy vs myopathy
Dystrophy high CK cf minimal in myopathy | Dystrophy often abnormal extra cellular protein cf intracellullar in myopathy
32
Incidence DMD and Becker
dMD 1/3000 and Becker 1/30000 Occ affects females with turners or skewed x lyonisation
33
Myotonic dystrophy genetics
AD variable penetrated and expression with anticipation (19q13) Christmas light cataracts, testicular atrophy, hypothyroidism, arrhythmia, striated muscle weakness
34
Congenital myopathies
Weak, myopathic facies, bulbar dysfunction, cognition normal ``` Congenital fibretype disproportion Nemaline rod Central core Centronuclear Minimulticore Other ```
35
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 ```
36
CMT 2 nerve pathology
Axonal degeneration produces decreased amplitude of nerve action potential on nerve conduction studies
37
Treatment for transient neonatal myasthenia
Neostigmine
38
Most common complication of NF1
Scoliosis 10-20% | Seizures 5%
39
NF1 order is apperance
CAL at birth (uncommon in NF2) Freckling Lisch Neurofibromas
40
TS order of features
``` Hypomelatonic macules Forehead plaque Sebaceous adenoma Shagreen patch Subungal fibromas ```
41
Adrenoleukodystrophy
XL | VLCFA ratio demyelinates CNS and adrenal damage
42
Krabbe
Severe myelin destruction Deaf blind lose reflexes Die by 2
43
Leigh
Deteriorate in infancy Holes in brain Lactate on CSF
44
Metachromic leukodystrophy
``` AR, lysosomal storage disease Ataxia Areflexia Dev regression Sz Symmetrical white lesions MRI ```
45
Rett
``` Males die MECP2 gene on x Most spontaneous Regress 6m Impaired expressive language Hang wringing Gait abn ```
46
CN palsy presenting with ptosis, inability to rotate eye up and inward dilated unreactive pupil and paralysis of accom
III
47
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.
48
Vertical nystagmus ? Normal or cause
Vertical nystagmus can be caused by Chiari I malformation and is never normal; evaluation for brainstem abnormality is required.
49
Early sign of uncap herniation is
Third nerve palsy (dilated unresponsive pupil)
50
Unstable in dark room
Fredericks ataxia
51
Opsoclonus myoclonus ataxia associated with?
Neuroblastoma
52
Idiopathic (previously benign) intracranial HTN/pseudotumour cerebri caused by what two drugs
Tetracycline | Isotrenotoin
53
Childhood seizures, Frequent drop attacks sig problem for care • EEG slow spike & wave, <2.5Hz • Usually assoc with profound retardation ? Syndrome
Lennox-gustaut
54
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
55
Tic treat if QOL affected with
Clonidine
56
Myopathic fancies associated with
Myopathies and myasthenia gravis
57
SMA genetics
homozgyous for exon 7deletion | – <5% have a point mutation in the SMN1 gene
58
Floppy infant but face bright think...
SMA Congenital muscular dystrophy face not weak
59
Posterior subcapsular cataracts or Christmas lights cataracts associated with what
Myotonic dystrophy
60
Treat neonatal MG with
Neostigmine
61
Weak facial, shoulder and arm muscles cause?
Facioscapulohumeral muscular dystrophy
62
Gene test in SMA
Survival muscle number (SMN1 copy number)
63
Most common brain cancer in children
Astrocytoma
64
Simple person test scoring
Face (circle) for 3y then add 3m for every feature after that Can ride TRIcycle at 3y
65
Normal child object permanence mastered by
15m
66
In which disease are there protein deposits known as Rosenthal fibers found in specialized cells called astroglial cells?
Alexanders disease
67
Stack 6 blocks age
2
68
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
69
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
70
Anti NMDA encephalitis look for (especially in females)?
Ovarian teratoma in anti NMDA encephalitis
71
DMD and Becker gene
Xq21 (Most die by 21) Frameshift (preserved frameshift in Becker)
72
Bell's palsy taste
Taste on anterior 2/3 tongue lost in 50%.
73
How does botulism work
Inhibition – toxin inhibits the release of acetylcholine, diminishing the endplate potential and causing impaired neuromuscular and autonomic transmission
74
Child with episodes eye deviation progressing to altered awareness followed by pallor and vomiting that last 20‐30 minutes
Benign Occipital epilepsy
75
CN nuclei in midbrain, pons, medulla
Midbrain 3,4 Pons 5,6,7 Medulla 8-12
76
Most common complication NF1
Scoliosis 10-20%
77
Media use 2-5y recommendations
<=1 hour per day
78
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
79
Rett syndrome gene?
MECP2
80
Lacosamide mechnism
na+ channel blocker
81
Drug for fredreichs ataxia?
Idebenone (coQ10 variant)
82
Moyamoya disease with TIAs and constriction related to what three conditions
NF1 Sickle cell Graves
83
Valproate enzyme inhibitor or inducer
Broad enzyme Inhibitor Risk of drug toxicity Displaces phenytoin from protein binding sites
84
Carbamazepine/phenytoin/phenobarbital and OCP
Decrease its efficacy | Enzyme induced
85
Sun setting eyes from
Raised ICP and parinaud syndrome is a tumour
86
What age does ball descend into sack?
By 3 months - if not there refer for surgery 3-6months old
87
Age can run well
24m
88
Active and symbolic play with 3 word sentence age of child
3 years
89
Rufinamide and lacosamide mechanism of action and side ffect
Voltage gated Sodium channel | Dizziness and headache side effect

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