lol Flashcards
In the old West, when an infant seized, people yelled “ACTH” and they HID.
West Syndrome:
Hypsarrhytmia
Infantile spasm
Developmental delay
Lenox had the Greatest sale: buy one seizure type get 1 free.
Lennox-Gastaut:
1. At least 2 seizure types
2. Generalized 1.5-2.5 hz S+W
3. Developmental delay
Landau fans scream disturbing language during games deafeningly load, but no one wakes up.
Landau-Kleffner Syndrome (epileptic aphasia)
EEGL status epilepticus in sleep
Interpretation of in auditory brainstem response:
E COLI
E COLI
I distal Eight nerve
II proximal Eight nerve/Cochlear nucleus
III Cochlear nucleus/ superior Olivary complext
IV superior Olivary complex
V Lateral lemniscus
VI-VII Inferior colliculus
PROGRESSIVE MYOCLONIC EPILEPSIES
(Progressively SLUMmiN it)
Sialidoses (6p, Neuraminidase, Cherry red spot)
Lafora (6q EPM2A, 6p EPM2B, Laforin, Malin, intracellular inclusions)
Unverricht (21q, cystatin b, membrane bound vacuoles on eccrine galnds)
Myoclomic with Ragged Red Fibers (mitochondrial, tRNA lysine, elevated lactate and pyruvate)
Neuronal Ceroid Lipofuscinoses
Disease associated with CACNA1A gene
(On Chromosome 19 encodin P/Q type Ca Channel)
Familial Hemiplegic Migraines
Episodic Ataxia type 2
Spinocerebellar Ataxia type 6
Childhood Absence Epilepsy
Tauopathies (6)
ALS-Parkinsonism dementia complex of Guam
Corticobasal ganglionic degeneration
Familial FTD with Parkinsonism
PSA
Post-enceohalitic Parkinsonism
Post-traumatic parkinsonism
Synucleinopathies (3)
DIffuse Lewy Body disease
MSA
Parkinson’s
PolyQ Disorders (3)
Dentatorubral-pallidoluysian atrophy
Huntington’s disease
Many of the spinocerebellar ataxias
Ataxia with Isolated Vit E Deficiency (AVED)
Ataxia, Arreflexia
Vit E deficency
Eye findings (retinitis pigmentosa)
Deafness
AVED looks like Fred, but Fred has heart problems.
Corticobasal Ganglioinic Degeneration (CBGD)
Cortical sensory loss, Coiled bodies of tau on oligodendrocytes
Ballooned neurons, Balance impared
Gee why is my arm doing that (alien limb phenomenom)
Dystonia, Dysphasia, Dysarthria, Degeneration of the substantia nigra and striatum
Most common mutation (enzyme) on Dopa-responsive dystonia?
Guanosine Triphosphate Cyclohydrolase 1 (GTP cyclohydrolase 1). AD. gene is located on 14q.
Catalyzes the rate-limiting step in BH4 (tetrahydrobiopterin) synthesis.
Fahr’s Disease
Idiopathic b/l calcification of the basal ganglia. Causes subcortical dementia and parkinsonism. +/- psych, chorea, dysarthria.
Conditions associated with CACNA1A on chromosome 19p
Have a FEaSt on route A1A for 19 people!
FHM-1 (familial hemiplegic migraine 1)
EA-2 (episodic ataxia 2)
SCA6 (spinocerebellar ataxia 6)
Rust-brown discoloration of the globus pallidus and pars reticularis of the substantia nigra is seen where?
Pantothenate kinase-associated neurodegeneration
Which AB is associated with opsoclonus-myoclonus?
Anti-Ri (ANNA-2)
Findings in CBGD
ABCD
Astrocytes plaques
Ballooned neurons
Cortical atrophy, Coiled bobs of tau in oligodendrocytes
Degeneration of stritum and substantia nigra
HARP Syndrom
Hypobetalipoproteinemia
Acanthocytosis
Retinitis pigmentosa
Pallidal degeneration
Mnemonic for Ataxis Telengectasia
“A tremulous man….
A tremulous man with athetosis, tremor, and myoclonic jerks who requests $11 (chromosome 11) from and ATM (atm gene) but the bank atm is defective and needs repair. (defect in dna repair).
Clinical Manifestations od Ataxia Telengectasia:
the ATM should produce CASH
Cancer
Ataxia, occulomotor Apraxia, AFP elevated, and AGE (Igs) decreased
Sinopulmonary infections
Hypersensitivity to radiation
Criteria for dx of NF (2/7)
ABCDEFG
Axillary/inguinal freckles
Bone deformities
Cafe au lait patches (6, >5mm if prepubertal or >15mm if postpubertal
1st Degree relative
Eye findings (lisch nodules 2 or more)
Fibromas
optic Gliomas
Tuberous Sclerosis (Hamartomas)
H: hamartomas (CNS, retinal and skin)
A: angiofibroma (facial) or adenoma sebaceum
M: mitral regurgitation
A: ash-leaf spots
R: rhabdomyoma (cardiac)
T: tubers (cortical, subcortical)
O: autOsomal dominant (autosomal sounds like starting with letter “O” )
M: mental retardation (intellectual disability)
A: angiomyolipoma (renal)
S: seizures; Shagreen patches 1
Clinical presentation and exam of patients with CNIV injury
Fourth nerve palsy causes ipsilateral hyperdeviation that increases in contralateral gaze and with ipsilateral head tilt. Patients typically tilt their head to the side opposite that of the affected fourth nerve as a compensatory mechanism to improve the diplopia.
narcan
naloxone
The presence of faciobrachial dystonic seizures should an autoimmune encephalitis due to which ABs?
Luecine-rich glioma inactivated 1 (LGI1)
Lamber Eaton hallmark finding in EMG/NCS
Decreased CMAP, decremental response at low-frequency (1-5 Hz) and INCREMENTAL response at high-frequency (50 Hz).
Hallmark findings in MG in EMG/NCS
Decreased CMAP with decremental response at low-frequency stimulation (1-5 Hz)
