cortical & hippocampal atrophy > memory loss, aphasia, apraxia. ↓ Ach

31 Pages·2004·0.38 MB·English

by  Eddie Perkins

NEUROLOGY Retts syndrome: Girls only. Normal until MAOI. Bromocriptine/ pergolide:
Degenerative Diseases 2yo then rapid regression. X-linked. stimulates D2, vasoconstriction, fibrosis
Alzheimers: cortical & hippocampal Stereotyped hand movements (wringing, (bromocriptine is used for prolactinoma,
atrophy > memory loss, aphasia, apraxia. tapping), hyperventilation, szs. No Tx. pergolide isn’t). Selegiline/ Eldypryl:
↓ Ach (N.B. of Meynert), NE, dopamine, Binswangers dz: HTN and dementia MAOI, slows progression; deprenyl:
& serotonin. Chr 21 (Downs) (±14,19). Transient global amnesia: not seizures, MAOBI.
Apolipoprotein E4/E4 ↑ # of plaques, probably 2° to transient ischemia of Parkinsonism: 80% Parkinsons disease,
early onset. mesial temporal lobe. 10% Parkinsons-Plus (MSA, PSP, CBGD,
Path: Neurofibrillary tangles: τ protein. Movement Disorders diffuse lewy body dz), 10% secondary.
Tremors: physiologic: 8-13Hz, awake (drugs: neuroleptics, reserpine, Ca-channel
Neuritic plaques: βamyloid protein. Both:
and asleep. Pathologic 4-7Hz, awake blockers, lithium)
cytoplasmic, silver stained, paired helical
only. Parkinsons: rest. Intention: PSP: downgaze palsy, pseudobulbar, gait
filaments. Granulovacular degeneration:
cerebellar. palsy, eyelid freezing, no tremor,
dark cytoplasmic granules w/clear halo in
Essential: action, some familial, improves symmetric. MR: atrophy of midbrain &
neurons. No gliosis.
Tx: donepezil, tacrine w/alcohol, propanalol. tectum. 70yos. No Tx.
(acetylcholinesterase inhibitors, slow Dystonia: Twisting/writhing movements, Multiple system atrophy = Parkinsons-
progression). Vitamin E & selegiline stopped by touching affected area. Plus, poor response to DA, lack Lewy
(MAOI, delay NH placement, not Idiopathic or secondary. Tx: L-dopa, bodies. Dx: Glial (esp. oligodendroglial)
cognitive decline). anticholinergics. Thalamotomy. cytoplasmic inclusion bodies. Includes:
CJD: prion infects oligodendroglia. Focal: Torticollis, blepharospasm, writers Striatonigral degeneration: syncope,
Spongiform encephalopathy. Path: loss of cramp. Tx: botox stridor. Putamen atrophy
cerebellar granule & purkinje cells, Tardive dyskinesia: Stereotyped Olivopontocerebellar atrophy: AD, Chr 6,
atrophy. Gliosis (none in Alzheimers). No orolingual movement or dystonia. Caused 15yo, LE ataxia, atrophy middle cerebral
inflammation. CSF WNL (14-3-3 by phenothiazines ↓ dopamine. peduncle
proteinase inhibitor protein specific). Prevent/Tx: Reserpine, anticholinergics Shy-Drager: autonomic probs, impotence,
Dementia, myoclonus, spasticity, (trihexyphenydil/Artane, benadryl.) no lewy bodies(?); loss in putamen, SN, &
cerebellar & visual/oculomotor problems. Phenothiazines (& Reglan) may also interomediolateral horn cells
100% fatal. Normal protein PrPc on Chr cause parkinsonism, acute dystonic Corticalbasal Degeneration (CBD):
reaction. Parkinsonism, cortical signs (apraxia,
20, converted from α helix to β pleated
sheet by prion. 10% familial (have mutant Hemiballismus: thalamoperforators, myoclonus) and alien limb. No Tx,
PrP in neurons & lymphocytes). EEG 1-2 contralateral STN etiology unknown.
Palatal myoclonus: central tegmental Chorea gravidarium: resolves post-
Hz spikes, triphasic waves. MRI: ↑T2
tract or Mollaret’s triangle (red nucleus pregnancy
signal in BG. Dx: Bx. Tx: 1) autoclave at
>< inferior olive >< dentate nucleus), Meige’s syndrome: facial dystonia
250°F (132°C) at 20PSI for 1hr, 2) bleach,
persists during sleep (blinking, tongue thrust, etc) idiopathic
3)NaOH x 1hr . Transmitted from cadaver
Parkinsons: Etiology unknown. ↓ (not phenothiazines) Women, 60yo, Tx:
GH injections.
neurons in SNpc, DMN vagus & locus Botox.
Huntingtons: chorea, demetia, family Hx.
Personality change 1st, increased blinking, ceruleus. Lewy bodies (eosinophilic Restless Legs: in uremia, DM etc. Occurs
intracytoplasmic inclusions w/ halo). Rest at night. Tx: Klonopin, Neurontin, L-dopa.
abnormal eye mvmt. Caudate/putamen
tremor, bradykineasia, cogwheel rigidity Neuroleptics, caffeine, Ca-channel
atrophy > boxcar ventricles. AD, CAG
blockers worsen.
(micrographia, ↓ blink, masked facies,
repeat in huntingtin, chr 4. ↑ dopamine,
festinating gain, pain in 50%, GI Wilsons disease: Parkinsonism/ bulbar
NE, somatostatin (vs AlzDz); ↓ GABA,
problems, dysautonomia, weight loss, signs/ dystonia/ ataxia/ psych probs. Wing-
Ach. L-dopa worsens.
asymmetric). 20% have dementia. Dx: beating” tremor. ↓ ceruloplasmin, ↓ serum
Westphal variant: <20yo, more
clinical. copper; ↑ urine copper; AR, chr 13; liver
aggressive, seizures, parkinsonism.
Tx: Surgical: lesion contralateral VL or biopsy best; Kayser-Fleischer rings;
Subcortical dementia: No aphasia,
Gpi (best for tremor/ rigidity/ hepatolenticular degeneration; Liver
apraxia, or amnesia (memory OK). Seen
dyskinesias); Vim = tremor, unilateral fibrosis, Renal tubular acidosis (metabolic
w/Parkinsons & Huntingtons
only (dysarthria), STN = bradykinesia. acidosis). Decreased blink, arm swing (like
Picks: frontal/ temporal, balloon
80% improve. DBS can be done parkinsons) Alzheimer II & Opalski cells
(“Picks”) cells (neurons, tau+), neuron
bilaterally. in GP. Hypodense BG; Tx: penicillamine
loss in cerebral cortex, gliosis, cortical
Fetal mesencephalic transplantation into (w/B6 to prevent anemia), ↓ dietary copper
spongiosis. Younger. Arithmetic
SN caused dyskinesias, some Hallervorden-Spatz: cysteine
preserved. Rare familial form, Chr17.
improvement <60yo. Adrenal medullary dioxygenase deficency. ↑ cysteine,
Tauopathies: tau is a MAP, Chr 17.
transplant abandoned. chelates iron > free radicals. Iron in basal
Picks, CBD, PSP, Alzheimers,
Medical: ganglia; no serum test; ↓ T2 “eye of the
Ubiquitin: binds abnormal proteins for
benztropin (Cogentin)/ Artane: tiger” pallidum & substantia nigra; No Tx
transfer to lysosomes. Stains in
anticholinergics. Amantadine: releases Tourettes: AD. <21yo. >1yr sxs. Normal
Parkinsons (Lewy bodies), Huntingtons,
dopamine, loses effect. Sinemet: dopa + IQ. Dopamine reuptake defect (VTA to
Alzheimers, & others
carbidopa, dopa decarboxylase inhibitor, anterior cingulate pathway). Tx: Haldol.
αSynuclein: structural protein, forms
2nd tier. SE: N/V, orthostatis, arrythmias,
Lewy bodies (Parkinsons)
on-off periods, dyskinesias (Tx B6). CI:
Hereditary ataxias: with actin), fiber necrosis, face spared, invovles cranial mm, no ↑ serum K, Tx:
Friedrichs ataxia: Chr 9 (protein CHF, woman carriers ↑ CK. Tx: Na. Paramyotonia Congenita exercise &
frataxin, GAA repeat), AR, <10yo, Prednisone (slows progression) cold worsens
degeneration spinocerebellar Becker: X-linked, onset 12yo, no MR, Ca channel (Chr 1): Hypokalemic:
tracts/cerebellum, post columns, dystrophin abnormal, no necrosis hypertrophy, Tx: daily KCl.
corticospinal; spares MNs; ataxia, pes Becker & Duchenne: calf Polymyositis: painless, nontender. No
cavus/scoliosis, arreflexia (due to pseudohypertrophy skin lesions. Dysphagia, dysphonia. Ocular
neuropathy 2° to dorsal root ganglia dz), Facioscapularhumeral: Chr 4., AD, mm. not affected. ↑ CK. Adults. Muscle
dysarthria, cardiomyopathy; 10% congenital absence of a muscle necrosis (T-cells)
diabetes mellitus, optic atrophy/retinitis (pectoralis, brachialis, biceps), has Dermatomyositis: Butterfly (heliotrope)
pigmentosa, no dementia. CSF normal; inflammatory cells (only 1); CK WNL, no periorbital rash & rash over knuckles
MRI: normal cerebellum, small spinal necrosis, MR, CHF; hearing loss (Gottrons papules). Children & adults.
cord; Tx: serotonin? Diff Dx: Vit E def. Emery-Dreifuss: early contractures elbow Moderate CK. B-cell perivascular
Mental status normal. flexors & neck extensors & calf; X-linked, inflammation (humoral – immune
Abetalipoproteinemia: peripheral benign complexes in walls of veins & arterioles),
neuropathy, retinitis pigmentosa, ataxia, Myotonic: hand/muscle atrophy; myotonia perifasicular atrophy – no necrosis.
dysarthria, acanthosis (abnormal RBCs), (preceeds weakness), frontal balding (men Antibodies/C3 increased. Both: Tx:
↓↓ cholesterol, triglycerides; & women), MR, cataracts, testicular steroids, females, 10% have cancer,
spinocerebellar/post columns (resembles atrophy, cardiomyopathy. Chr 19, CTG UE/neck > LE, proximal.
Friedrichs); children; Vit E slows repeats on “myotonin”, AD, congenital Inclusion Body myositis: chronic
progression form always from mother (resolves), myopathy, >50yo. Quads/hand & feet
Ataxia-Telangiectasia: Chr 14, AR, face/larynx etc. affected then distal flexors. CK mild. Bx: ubiquitin+ inclusion
decreased IgA,G & E. Begins 2yo, ataxia, extremities, most common adult form; bodies, denervation.
premature aging, gaze paresis, red eyes, EMG: dive-bomber (reptitive discarges Congenital myopathies: central-core
OKN lost. ↑ AFP. Severe degeneration of w/minor stimulation) (related to malignant hyperthermia),
cerebellar cortex, anterior horn, Myasthenia Gravis: Women < 40yo, nemaline
demyelination in post coluns, Men >50yo w/thymoma. 10% have Issac’s syndrome: myokymia
spinocerebellar, peripheral nerves. T-cell thymoma (60% of thymoma have MG), (w/myotonia, hyperhydrosis), K+ channel
Leukemia/ lymphoma common. 66% thymic hyperplasia. 10% have no Abs > presynaptic hyperexcitability. 20-
Hartnup’s Disease: AR, Defect in renal AchR-antibodies. Pupil response OK. 30s, M=F. Tx: Dilantin, Tegretol, IVIG,
transport of neutral amino acids Tx: anticholinesterase (pyridostigmine) > pheresis.
(tryptophan). Gait ataxia (triggered by Thymectomy (16-60yo best, 1/3 work Stiff-man syndrome: anti-GAD
sunlight & sulfa), emotional lability, without thymoma due to hyperplasia) > antibodies (forms GABA). IDDM assoc.
delusions, tremor, rash on face (like steroids > azathioprine > plasma Tx: BZDs. Vs tenanus: EMG silent-period
pellagra). Tx: nicotinamide – like pellagra exchange. Cholinergic (worsens) vs preserved, disappears during sleep, no
(not tryptophan) myasthenic (improves) crisis: give trismus.
Spinocerebellar ataxia (SCAs): All AD, edrophonium. Aminoglycosides worsen. Thyrotoxic myopathy: proximal mm
14 types, Trinucleotide repeats. D-penicillamine can cause autoimmune weakness, diplopia, hypokalemia, males
Muscle Disease myasthenia. Spinal/Nerve
EMG: denervation/ reinnervation = Neonatal MG: due to mothers with Mg, Amyotrophic Lateral Sclerosis: Atrophy
increased duration, polyphasic. Myopathy resolves over weeks. and hyperreflexia. Tongue fasiculations
= decreased duration. Both = decreased Eaton-Lambert: 60% have small-cell (worse prognosis). Anterior horn, Betz
amplitude lung CA (1/3 no tumor). Antibodies to cell, and corticospinal tract degeneration.
Muscle Biopsy: presynaptic Ca channels & synaptotagmin No sensory loss, no pain. CSF normal.
Denervation: cause atrophy, angular fibers at NMJ, prevents Ach release. Proximal EMG: denervation in multiple limbs &
(reduced to nuclei only). ALS, SMA, trunk/ LE weakness, Ocular mm spared, CN. Bunina bodies (MNs). Poss.
peripheral neuropathy Autonomic problems. EMG: Low Mechanism: glutamate excitotoxicity. 10%
Muscular Dystrophies: sarcomlemma amplitude to single stimulus (MG familial - Chr 21, AD, mutation in
breaks, large, eosinophilic fibers normal), Incremental response to >50/s superoxide dismutase (SOD1), free radical
(myonecrosis)> phagocytosis > fat & stimuli. No fasiculations (seen in scavenger. Tx: Riluzole (↓ glutamate
fibrous tissue. neuropathy). Tx: guanidine & 3,4- release). DDx (anterior horn): polio, ALS,
Myotonic dystrophy: multiple central diaminopyridine (DAP – K channel CJD, Werdnig-Hoffmann
nuclei & ring fibers blocker, ↑ APs, also used in MS, can Spinal Muscular Atrophies (SMAs)
Polymyositis: perifasicular inflammation cause szs) (both ↑ Ach release), All on Chr5, AR. Resembles childhood
Dermatomyositis: perivascular plasmapheresis, steroids. No response to ALS clinically – due to anterior horn cell
inflammation > ischemia > perifasicular anticholinesterase meds. Muscle relaxants loss & CN motor neurons.
atrophy lethal. Werdnig-Hoffman (SMAI): congenital -
Muscular dystrophy Periodic Paralysis: All AD. limp infant, no MR, fasiculations only in
Duchennes: X-linked (30% not familial), Na channel (Chr 17): Hyperkalemic: tongue, ocular mm. spared. Possibly due to
males (famales w/Turners), onset 3-6yo, precip by fasting, exercise, no mutations in motor neuron trophic factors
mild MR, CK higher, heart affected, hypertrophy, Tx: glucose. Normokalemic: SMN1 or NAIP.
dystrophin absent (membranous, interacts not precip by fasting, hypertrophy,
Kugelberg-Welander (SMAIII): older Onion Bulb: Dejerine-Sotas (AR, Lower trunk: abnormal ulnar sensory (little
children, less lethal children, enlarged nontender ulnar, finger), EIP (extensor indicis proprius) and
Also adult types. median, radial & peroneal n.), Roussy- APL abnormal
Viral myelopathy: Polio & West Nile Levy (ataxia, tremor, pes cavus), Charcot- Medial cord: ulnar sensory abnormal; EIP
attack anterior horn cells. Marie-Tooth (AD, can affect UE, steroids normal
Guillain-Barre: motor/autonomic > no effect, no autonomic effects, peroneal Lateral cord: abnormal median sensory,
sensory. Autoimmune against Schwann muscle atrophy, segmental abnormal biceps and FCR, normal APB
cells (or axons). All ages. Symmetric. demyelination), Refsums Posterior cord (Klumpkes): wrist drop, IM
Mortality 3%. Peaks 10-14d. 20-30% Have mutation in peripheral myelin shoulder injections
preceeding Campylobacter infection proteins (PMP22 in CMT) Brachial Neuritis = Parsonage-Turner;
(diarrhea), also CMV. May occur Demyelinating: diptheria, lead, GBS, DM, pain then proximal arm weakness (3-10d
postoperatively. EKG: t-wave ∆s hexacholophene later, > sensory, distal); no WBC, ESR,
common. CSF: Normal except high Sensory: amyloid,DM,ETOH fever. Can be AD.
protein (peaks 4-6wks). Path: Autonomic: Fabrys, amyloid, porphyria, Rheumation arthritis: PIP (Bouchard)
Perivascular & endoneurial inflammation, GBS, DM, vincristine, botulism only; Degenerative = PIP + DIP
segmental/ perivenular demyelination, Motor: GBS, diptheria, porphyria, uremia, (Heberdens)
particuluarly in roots & plexuses. lead Hyperhydrosis – T2/3 ganglionectomy
Plasmapheresis, IVIG (not steroids). Drugs: isoniazid (sensory), nitrous oxide (leave T1 to prevent Horners)
GM1 ganglioside in campylobacter wall > Cranial neuropathies: III: DM, syphillis; Scleroderma: entrapment neuropathy
anti-GM1 Abs (GM2 in CMV) V: arsenic, sjorgen; VII: Bell’s, Ramsay- (CTS), anti-Scl-70 or 86. Tx d-
Miller-Fisher variant: opthalmoplegia, Hunt, sarcoid, lyme, porphyria, PAN;VIII: penicillamine
ataxia, hyporeflexia, descending. Anti- wegeners, refsums; IX: diptheria. General: Sjorgens: xerostomia, conjunctivitis
GQ1b IgG. Good prognosis. GBS, amyloid. (Schirmers test). Anti-Ro (SS-A) & La
Also Acute Motor & Motor-Sensory Porphyria: Acute intermittent: AD, (SS-B). Vasculitis, neuropathy
Axonal Neuropathy variants. abdominal pain/ gastroparesis/ Demyelinating Disease
Tick paralysis: Dermacentor tick toxin. constipation, hypertension/ tachycardia ADEM: postviral/postvaccination. ↑ESR.
Resembles Guillain Barre - ascending (2° to autonomic neuropathy), psychosis, CSF ↑ pressure, WBCs, RBCs, protein.
paralysis, but more rapid, CSF WNL. Tick neuropathy (axonal motor/ autonomic), Perivenular demyelination. Involves deep
removal – rapid improvement. Skin is normal. Seizures, SIADH. grey matter (vs MS) Tx: Steroids. 25-50%
CIDP: polyradiculopathy, proximal Porphrobilinogen deaminase deficiency:↑ mortality.
weakness, sensory loss/paresthesias, CSF: porphobilinogen, δ-aminolevulinic acid. Multiple Sclerosis: CSF: IgG index >1.7
↑ protein, no cells. Demyelinating. EMG: May be provoked by porphyrigenic drugs: (>15%), protein not >100, ↑ MBP,
↓ nerve conduction. Tx: steroids barbs, PTN, sulfa, estrogens. Tx: IV oligoclonal bands, mild pleocytosis. Tx:
Transverse myelitis: all ages, MRI hematin. ACTH, steroids (↓ duration, not with optic
normal in 50%, prognosis variable. All others have skin manifestations: neuritis), βinterferon (↓ relapse, no ↑
40% idiopathic – rest MS, vasculitis, etc. Varigate, hereditary corproporphyria, infections). VERs usually abnormal. Path:
Myelopathy: ALS: corticospinal + Porphyria cutanea tarda (all above hepatic Perivenular demyelination w/axonal
anterior horn; Polio: anterior horn; HIV: porphyrias), also erythopoetic porphyria sparing; perivascular lymphocytes,
vacuolar (similar to B12); HTLV-1; Diabetic neuropathy: Opthalmoplegia, macrophages, reactive astrocytes. No PNS
Friedrich’s ataxia: posterior columns, acute mononeuropathy, mononeuritis involvement. Risk equal to habitat when
spinocerebellar, corticospinal; B12: multiplex have vascular origin, distal <15yo. Northern = worse. Optic neuritis
Posterior columns & corticospinal; Tabes sensorimotor polyneuropathy due to direct causes ↑ blind spot, no VF defect. Lesions
dorsalis: posterior columns neurotoxicity abut dorsal surface in spine.
Tropical spastic paraparesis: Japan/ Mononeuritis multiplex: painful, Marburg=fulminant, Devic=optic n. and
tropics; corticospinal ± post columns; due asymmetric, LE > UE, painful, prox > spinal cord; Schilders=kids, fatal
to HTLV-1; chronic distal, evolves minutes to days, resolves in Experimental allergic encephalomyelitis =
Ischemic myelopathy: due to aortic weeks Occurs w/DM, PAN model, T-cells to MBP
aneurysm/dissection. Back/groin pain + Amyloidosis: Familial or secondary. Other Demyelinating Dz: PML, SSPE,
myelopathy + claudication (2° to Neuropathy (from Ig light chains in rubella, HIV, Binswangers, CO,
ischemia), from A. of adamkewicz. Aortic endoneurium of blood vessels, axonal leukodystrophies, EtOH, cyclosporin,
bypass may worsen. degeneration, small unmyelinated ampotericin, hexachlorophene, triethytin,
Radiation myelopathy: Painless pain/temp & autonomic fiber loss). CTS. radiation, MTX, lead, mercury
paresthesia, sensory before motor, early Angiopathy. Polypeptide amyloids β- Oligoclonal bands: MS, SSPE, syphillis,
transient (3-6mo, paresthesias) or delayed pleated sheets. Herditary = prealbumin, NOT TB
progressive (12-15mo, coagulation transthyretin. Toxic/Metabolic
necrosis of white matter, hyalinized Brachial plexus lesions: Vitamins: Thiamine: rice eaters,
vessels – resembles infarct). Tx: steroids. Upper trunk (Erbs): abnormal deltoids, alcoholics. Wernickes, beriberi (heart dz);
Neuropathies: DM, leprosy, amyloid, biceps; waiters tip painful sensory neuropathy (distal LE
polyarteritis nodosa, acute intermittent Middle trunk:abnormal median sensory dysesthesias/hyperpathia), orthostasis (2°
porphyria, uremia, metachromatic (index & middle finger), hand motor to neuropathy), Strachan’s syndrome
leukodystrophy, Fabrys, Krabbes normal (sensory ataxia, optic n. atrophy, deafness).
Niacin: pellagra (rash, post column/CNS
probs), due to tryptophan def, corn eaters. Lead: enephalopathy (resembles AIP), EtOH: withdrawl 72hr (vs benzos 7-10d).
B12 (Cobalmin): subacute combined diffuse brain swelling (kids), MR, wrist Prevention: chlordiazepoxide. Superior
degeneration, megaloblastic anemia, drop (painless motor neuropathy), black vermis (Purkinje cell, molecular layer)
neuropathy, centrocecal scotoma. Folate: gingiva, RBC basophilic stippling atrophy.
megaloblastic anemia, neuropathy, due to (anemia), ↑ urinary corproporphyrin and Fetal alchohol syndrome: impaired
methotrexate (dihydrofolate reductase δ-aminolevulinic acid. Tx: BAL & EDTA. neuronal migration., MR, microcephaly
inhibitor) Pyridoxine (B6): due to Manganese: miners, Parkinsons, affects Wernicke’s: gait ataxia, nystagmus (most
isoniazid (INH). Neuropathy. Vitamin A: striatum, Tx: l-dopa common) opthalmoplegia (bilateral lateral
increase causes pseudotumor. Vitamin E: Mercury: fish, hat dyes/felts, paper/pulp rectus 2nd), confusion. Also), hypothermia.
spinocerebellar degeneration/ ataxia, plants. cerebellar signs/ataxia, tremor, Thiamine def. Ocular problems recover 1st.
polyneuropathy. Kids, hepatic dz. mood change, visual loss, renal tubular Mamillary body, PAG, PVG lesions
Chromium: diabetes. Zinc: dermatitis. necrosis. Path: calcarine cortex & (enhance on MR). ↑ serum pyruvate, TTP,
Methionine metabolism: cerebellar granular layer. Inhibits protein ↓ transketolase
Methionine > homocysteine. translation. Tx: penicillamine (not BAL) Korsakoff’s: short-term retrograde
Homocysteine > methionine (methionine Thallium: cardiac, GI probs, alopecia, memory deficits (immediate memory/
synthetase - requires B12 & folate arthropathy, neuropathy attention OK). DM thalamus. Only 20%
(methyl- THF)) or Aluminum: dialysis pts, osteomalacia, improve w/Thiamine.
Homocysteine > cysteine (by encephalopathy Central pontine myelinolysis: correction
cystethionine βsynthetase – requires B6). Copper: OCPs, Wilsons Dz of hyponatremia. never extends into
B12 def (SCD): ↑ homocysteine & Carbon Monoxide: GPm necrosis; medulla, demyelination, affects oligos,
methylmalonic acid (Methylmalonic-CoA parkinsonism 1-3wks after event (suicide, preserved neurons, no inflammation
> Succinyl-CoA also requires B12 in fire) Marchiafava-Bignami: demyelination of
amino acid metabolism). Iron: desferoxamine corpus callosum and ant comissure
B6/ CβS def: Marfans, homocystinuria, Gold: BAL, penacillamine Cocaine: causes noncaseating granulomas
hyperhomocysteinemia: ↑ homocysteine Organophosphates: insecticides, rat of basal areas/ meningitis
& methionine. poison. anticholinesterases (sweating, Diffuse Brain Swelling: in kids: lead,
Folate/ MTHFR def: ↑ homocysteine cramps, n/v, ↑ salivation – not dry tetracycline, vitamin A
Folate: folate > DHF > THF (by MTHFR) mouth). Tx: atropine + pralidoxime (2- CRF: peripheral neuropathy most common
> methyl-THF > accepts methyl group PAM) (legs, mixed). Tx: transplant (not dialysis)
from homocysteine in above reaction > TOCP: triorthocresyl phosphate, causes Hepatic encephalopathy: Ammonia ↑
THF rapid UMN & LMN paralysis GABA synthesis. Asterixis. Alzheimer
Cyanocobalmin (B12): metabolized to Ergot: rye grains/bread. Posterior type II astrocytes, hyperplasia of
cyanide colums/dorsal roots, neuropathy, skin protoplasmic astrocytes in deep cortical
Subactue combined Degeneration: ulcers. vasoconstrictor layers & deep nuclei. T1 hyperintense
Post. Columns (first) then corticospinal – Tylenol: N-acetylcysteine BGs. Involves cortex, spares hippocampus,
esp. cervicothoracic (may occur in Cyclosporin: encephalopathy; occipital GP, deep folia of cerebellar cortex. EEG:
medulla). Demyelination & axonal lobe white matter changes resembling triphasic waves (can occur w/others) Tx:
degeneration, spongiosis (not seen in hypertensive encephalopathy – cortical lactulose.
Friedrichs ataxia), vacuoles in myelin. blindness. Demyelinating. Transplant pts Reye syndrome: Virus + ASA. Hepatitis,
May have visual probs – centrocecal Isoniazid: anti-TB. Neuropathy due to encephalopathy, hypoglycemia, cerebral
scotoma. CSF WNL. pyridoxine deficiency. Give with edema. Tx: supportive
Vitamin B12 (cobalmin). Absorbed in pyridoxine. High-altitude sickness: cerebral hypoxia.
ileum. Methionine synthetase requires Nitrous Oxide (N2O): abuse (dentists, Tx: steroids, diamox, O2.
B12 >Elevated serum methylmalonic acid health care). Peripheral neuropathy, Infectious Disease
and homocysteine (best indicator of megaloblastic anemia. Numbness, Meningitis: H flu=alcholics, diabetics,
intracellular B12 levels. Microbiological paresthesias, ataxia, spasticity (resembles kids, CSF leaks. Type B. Causes subdural
assay best method for Serum B12 but is B12) effusions. 3rd gen cephalosporin. Steroids
less reliable). DNA synthesis failure. Methanol: moonshine, hemorrhagic decrease deafness. Prophylaxis for all
Nitric oxide also inactivates methionine putamen/claustrum necrosis, contacts <18yo.
synthetase. blindness/acute central scotoma Tx: EtOH S. pneumo= elderly, skull fx/ CSF leaks
Pernicious anemia: lack intrinsic factor to Ciguatoxin: food poisioning, (recurrent), TBI, alcoholics, sickle-cell.
transport B12 in ileum. Schilling test: B12 tropics/South. Fish (snapper, grouper). ↑ Vanc + 3rd gen ceph, PCN.
then B12 + IF. B12 IM qD. Tx: IM B12 permeability sodium channels – N. Meningiditis=rash, rapid, meningeal
qmonth - Oral B12 will not correct. excitability. N/V (6hrs) > paresthesias, fibrosis. Waterhouse-Friedrichsen (shock,
Intrinsic SCD: Idiopathic, not B12, motor HA, ataxia. Temperature reversal. adrenals) Gram (-) diplococcus. PCN,
then post columns. Resolves 1-2d. Cephalosporin. Rifampin prophylaxis for
Toxicology Lathyrism: spastic paraparesis from eating all contacts. Vaccine for epidemics,
Arsenic: insecticides. encephalopathy, only chick-peas (toxin causes glutamate military recruits
neuropathy (axonal), abdominal pain, toxicity) Listeria: Gram+ Rod (intracellular).
palm/soles pigment, Mees lines Paraquat: insecticide, kills dopaminergic Neonates, renal transplant, CRF,
(fingernails). BAL. Detect in hair cells, causes parkinsonism. immunosuppressed, steroids. Glucose, G/S
may be normal. Amp/Gent
GNR: Ceph/gent. Coccidiomycosis: So. Cal. Large yeast – Transmitted by saliva (not from mice/rats,
Neonatal meningitis: GNR > group B “sporangia”. Usu. Pulmonary. rabbits, reptiles).
strep > listeria. Parasites SSPE: caused by measles @ 5-15yo from
Tuberculous: ↓↓ glucose. INH/Rif/PZA x Cystercercosis: Taenia solium. Pork infection <2yo. EEG: 2-3/s spikes, burst
12mo ± steroids tapeworm – but obtained thru fecal suppression pattern (bursts of high-voltage
Skull fx: closed = pneumococcus > H flu. contamination (vs taeniasis and trichinosis slow waves w/ low-voltage stretches).
Open = GNR – from eating undercooked pork). Ingest Dementia, seizures, myoclonus, ataxia.↑
Malignant otitis/ petrositis: facial palsy, eggs > penetrate gut > oncospeheres > measle serum & CSF titers; ↑ CSF IgG &
otorrhea, elderly DM. Pseudomonas. larvae encyst in CNS. Tx: Praziquantel. oligoclonal bands (resembles MS).
Steroids: infant H. flu; severe TB; Echinococcus: Taenia echinoccocus. Eosinophlic Nuclear & cytoplasmic
neurocystercercosis w/↑ ICP. Hydatid disease. Dog tapeworm/easting inclusions in glia & neurons. Grey & white
Brain abscess: aerobic/microaerophillic infected sheep. Larvae in cysts = hydatid matter. Gross demyelination, atroophy.
Strep. Sinus infxn most common cause. sand (Small cysts in larger cyst) PML: JC papovavirus. Demyelinating.
Infants Tetralogy of Fallot #1 (also Schistosomiasis: fluke. Deposits ova in Oligodendroglia in periphery of lesion
transposition great vessels). Also Batsons veins > spinal cord granulomas altered to large, dark, ground-glass nuclei
pulmonary AVMs (Rendu Osler Weber) >myelitis. Puerto Rico. Praziquantel w/ owls eye inclusion. Giant astrocytes
Neonates: Citrobacter, Bacteroides, Toxo: Obligate intracelluar protozoa. (Alzheimer type I). No enhancement. No
Proteus. SBE usually causes strokes, Cats/congenital. Cysts contain tachyzoites inflmmation (vs MS-has macrophages).
mycotic aneurysm – not abscess. visible on H&E. Seurm IgG almost Spares cortex. Dx: CSF PCR. Occurs
Bacterial Encephalitis: always (+), CSF usually mornal. Tx: w/HIV, lymphoma/ leukemia, sarcoid.
Bacterial: Legionella (CSF -), pyrimethamine/ sulfadiazine (w/ HIV: dementia complex #1 (subcortical
Mycoplasma, Listeria (immunosuppresed, Leucovorin rescue) dementia, motor deficits). Glycoprotein
CSF +), Brucella. Amoebic meningitis: Naegleria & others. 160 (precursor > Gp120 & Gp41) attaches
. Freshwater ponds, basilar meningitis. to CD4 receptor (T-helpers) and
Subdural empyema: Streptococcus Enter cribiform plate. Tx: metronidazole. galactoceramide (oligos, neurons) –
Epidural abscess: Staph aureus Malaria: Plasmodium falciparum. disrupts Ca/long term potentiation > ↑
(pseudomonas in addicts) Encephalopathy. Infected RBCs > stroke. intracellular Ca > neurotoxicity. Vacuolar
Tuberculosis: CSF: ground glass, low Cl, Trypanozones: T. Brucei = African myelopathy: posterior & lateral columns,
protein very high. Basilar exudate, basilar sleeping sickness (Tsetse fly). T. low thoracic. Myelitis: CMV causes pial
& cortical “popcorn” calcifications, gambiense = chronic meningitis. T cruzi = enhancement. Encephalitis: unique
parenchymal granulomas (ring- Chagas dz (reduviid bug) multinucleated giant cells (syncytial
enhancing). Caseating (cheesy - Viral meningitis/ encephalitis: macrophages). Both HIV (perivascular) &
yellowish) necrosis, Langhan’s giant cells. Enterovirus #1. Encephalitis: Arbovirus = CMV (subpial/ ependymal) (& toxo)
Noctural wakefulness. Potts dz : affects #1 epidemic, HSV = #1 sporadic. produce microglial nodules.
disk space 1st. Herpes & rabies enter nerves, use fast Tx: zidovudine (AZT - myopathy), 3TC
Fungal: Immunocompetent: Histo, retrograde transport to enter CNS. (neuropathy) (CMV = Ganciclovir)
Blasto, Coccidio. Immunodeficient: Most cause microglial nodules & CMV: large eosinophilc nuclear inclusions
Candidiasis, Aspergillosis, Cryptococcus, perivascular lymphocyte cuffing. (Cowdry A) with halos. Causes neonatal
Mucor. Arboviruses: Arthropod: Eastern encephalitis (see TORCH), HIV
Yeast: crypto, coccidio, histo, blasto (summer, rare, 75% mortality, children); encephalitis, myelitis.
Hyphae: aspergillosis, mucor Western (summer, more common, infants, Sarcoid: favors CN7. Mononeuritis
Both: candida (pseudohyphae) 5% mortality); Venezuelan (epidemics, multiplex, (& other neuropathies,
Tx for all: Ampho B. mortality <1%, adults, south); St Louis myopathy). Serum ACE up. Steroids.
Aspergillosis: Invades blood vessels > (adults); LaCrosse (common, kids, Neurologic in 5%. Noncaseating
infarcts. Dichotomous (45° Y-shaped) mortality <1%) granulomas, basal/hypothalamus. Dx: Bx
Branching septate hyphae (silver stain on Herpes encephalitis: Limbic lobe: of non CNS tissue. Steroids. Note sarcoid
all fungus). Immunocompromised. Most Bitemporal, cingulate, subfrontal, insula. may resemble MS but MS does not cause
common fungal abscess. SF RBCs, mononuclear cells. EEG: neuropathy.
Mucormycosis: Nasal infxn, diabetics, temporal PLEDs, slow waves. Dx: PCR VonEconomo’s encephalitis:
immunosuppression. Angioinvasive. on CSF or Bx & Cx. (HSV2 = neonates, (encephalitis lethargica). After influenza,
Nonseptate right-angle branching hyphae. diffuse). Path: Cowdry type A develop parkinsonism
Cryptococcus: India ink/ mucicarmine (intranuclear eosinophilic inclusion) in Syndenham’s chorea: after rheumatic
(stains capsule red). Bird feces. Single neurons, astrocytes, & oligos, found early. fever (group A strep, carditis + arthritis).
bud w/halo. Meningitis. Gelatinous Tx: acyclovir. No Tx necessary. May recur years later.
perivascular “pseudocysts” in BG, path: Rabies: Travels peripheral nerves to Preadolescent females
perivascular macrophages & yeast. CNS. Glycoprotein G on envelope Whipples dz: Tropheryma whippleii.
(“Swiss-Cheese” brain) attaches to nicotinic Ach receptor or Jejunal Bx: PAS+ cells. Ataxia,
Candida: Most common CNS fungus. NCAM. Path: Negri bodies (eosinophilic ophthalmoparesis, dementia (myoclonus,
ICU/immunosuppressed, causes retinitis. cytoplasmic) in Purkinje cells of szs). Resembles Wernickes.
Histoplasmosis: usu pulmonary, very cerebellum & pyramidal cells of Oculomasticatory myorhythmia (penudular
small, inside macrophages, Mississippi hippocampus, limbic neurons. Tx: Ig. convergance of eyes with rhythymic
valley “smiling”) pathognomonic. Tx: antibiotics
Syphillis: Meningovascular = Huebners Tetanus: Exotoxin transmitted by Bielschowskys sign – CN4 injury, head
arteritis. General paresis of the insane retrograde axonal transport, inhibits tilted to opposite side; eye up & in
(chronic meningoencephalitis). Tabes Renshaw cells (↓ glycine vesicle release Gradenigos Syndrome: osteomyelitis of
dorsalis (Thoracic, lumbar, post columns, by cleaving synaptobrevin – Zinc petrous apex. CN6 (&3) palsy &
dorsal roots, bladder/bowel incontinence, dependent protease) – tetany. May be retroorbital pain, from otitis (cholesterol
absent DTRs, argyll-robinson pupils, local, generalized, or cephalic. 50% granuloma can also occur at petrous apex)
charcot joints). Congenital (Hutchinsons mortality. Incubation days to weeks. Horners: no response to 2% cocaine.
triad: notched teeth, deafness, keratitis) Usually in soil. May also occur in neonate + hydroxyamphetamine: no effect = 3rd
Nontreponeal tests: RPR, VDRL – false by contaminated umbilical cord, order (postganglionic), dilation = 1st or 2nd
(+). Treponemal: MHA-TP, FTA-ABS, contaminated heroin. EMG: continuous order (epinephrine opposite).
confirmation. If serum (+), check CSF. discharges of normal motor units, loss of Sympathetics: hypothalamus >
Cat-scratch fever: Bartonella. normal “silent period” (due to renshaw interomediolateral column > T1 root > Sup
Epitrochlear lymphadenopathy (due to cells) Tx: Antitoxin (Ig), PCN, cervical ganglion > ICA (pupil) & ECA
scratch on arms). MRI: Pulvinar debridement. (sweat). ICA Dz (dissection) doesn’t
hyperintensity. Meningitis or enchpalitis Diptheria: ascending paralysis, produce anhydrosis.
(immunosuppressed). ophthalmoplegia, demyelinating Tunnel vision: retinitis pigmentosa,
Neonatal/TORCH: CMV (#1): migration sensorimotor neuropathy at DRG & roots glaucoma, papilledema
abnormalities, HCP, periventricular without inflammation. Exotoxin inhibits Retinitis pigmentosa: Degeneration of all
calcifications, microcephaly, myelin synthesis. Antiserum. layers of retina. Tunnel vision, Nyctalopia.
chorioretinitis (Tx gangcyclovir)/optic Black Widow: depletes Ach into NMJ Occurs w/ mitochondiral dz, Laurence-
atrophy, MR, deafness; Toxo: <26wks, no Leprosy: Neuropathy – due to bacillus Moon-Biedl, Friedrichs ataxia, Cockaynes,
migration probs, chorioretinitis, growth in peripheral axons & Schwann abetalipoproteinemia, Refsums, or alone
hydrocephalus, scattered cerebral cells (lepromatous) or due to perineural (AR, Chr 3).
calcifications (not periventricular); granulomas (tuberculoid) Nystagmus:, downbeat =
Rubella: BG/cortical calcification, small Ophthalmology cervicomedullary, ocular bobbing = pons,
brain, cataracts, deafness, cardiac probs, Adie pupil: degeneration of cilliary oscillopsia = vestibular, impaired
aqueductal stenosis. HSV: 2-4wks ganglion (parasympathetics), large pupil – opticokinetic reflex = parietal or vestibular
postpartum, diffuse encephalomalacia (not no response to light (responds to near, (elicit by rotating drum away from lesion),
just temporal). same as argyll-robertson); very sensitive see-saw = parasellar; convergence &
Lyme Dz: Borrelia burgdorferi. Tickborn to miotics due to denervation nystagmus retractorius = pineal/ tectal
spirochaete. erythema chronicum migrans hypersensitivity (0.1% pilocarpine – (Parinauds), ocular dysmetria (overshoot)
= slowly spreading ring of erythema, normal pupils don’t respond); young = vermis, spasmus mutans = infants only,
aseptic meningitis. Radiculopathies women; may have absent DTRs, benign congenital (nystagmus on gaze then
(sciatica), neuropathies, Dieterle stain. Argyll-Robertson: small pupils, react to fixation on object)
CN7 commonly affected (weeks after accomodation, not light. no response to INO: Ipsilateral MLF: Impaired adduction
rash). Dx: ELISA. Ceftriaxone > mydriatics. Lesion unknown (pretectal ipsilateral eye, nystagmus in contralateral
Tetracycline, erythromycin. area?) eye. Bilateral MLF: impaired adduction
Ramsay-Hunt: herpes infection of CN7; Marcus-Gunn pupil = afferent pupillary bilaterally. Pathognomonic for MS. Both
vesicles on EAM defect (APD) have preserved convergence.
Bell’s Palsy: +- hyperacuisis, taste Colliers sign: Bilateral lid retraction – 1-1/2: MLF + PPRF/CN6. Complete
changes; peaks 2-5d; ?HSV; Tx: steroids Diencephalic syndrome (wasting, ↑ food opthalmoplegia isilaterally, only abduction
x 1 wk intake, euphoric) contralateral. Convergence OK.
Botulism: Rapid onset bulbar paralysis. Nyctalopia: night blindness, retinal Optic neuropathy: Ischemic: painless,
Pupils unreactive (large, fixed, vs MG - degeneration (retinitis pigmentosa) or Vit abrupt, inferior altitudinal defect.
reactive) (also ptosis, opthalmoplegia, A deficiency. HTN/diabetes – posterior ciliary a.
diplopia, dysphagia, dysarthria). EMG: Macular damage: severe visual loss Exclude temporal arteritis. Optic disc
(looks like Eaton-Lambert) decremental Scintillating scotomas: migraine aura papillitis > pallor. Embolic: Central retinal
response at low frequency (2-5Hz), Hypertensive retinopathy: segmental a. Cloudy retina, grey narrow arterioles w/
incremental response at high-frequency narrowing of arterioles (copper wire) segmented columns of blood, cherry-red
(20-50Hz). Canned vegtables containing Diabetes: Pupil sparing CN3 palsy, fovea. Toxic/nutritional: bilat central
exotoxin (raw honey in infants – organism painful, abrupt, resolves w/in 6mo scotoma
injested & produces exotoxin in gut). 3 (Most deadly complication of diabetes = Optic neuritis: painful, visual loss/APD
types of exotoxin : A (used in botox heart disease) (complete blindness resolves to enlarged
injections), B, & E. Symptoms appear 12- Diabetic retinopathy: microaneurysms, blind spot/ centrocecal scotoma), 75%
36hrs. CSF WNL. vascular proliferation develop MS, recovers. Steroids (IV then po
Presynaptic ↓ Ach release due to ↓ vesicle Most common cause acute diplopia: – po alone worsens)
release (Zinc-dependent protease, cleaves CN6 (>3>4). CN4 most common injury in Papilledema: no visual acuity loss,
synaptobrevin, SNAP25 & syntaxin) facial trauma. CN4 most commonly enlarged blind spot, venous pulsations
Descending. Tx: Antitoxin, guanidine. affected w/herpes zoster opthalmica (V1). absent in 15% of normals (not reliable),
DDx: Guillain Barre (abnormal NCV, Pupil affected 1st by CN3 compression engorged capillaries from short ciliary
sensory affected, CSF abnl), tick paralysis (peripheral fibers) arteries
Drusen: hyaline in optic n., resembles Ear stuff CBZ & PB, not PTN. PTN ↑s coumadin
papilledema Hearing loss: conductive = low-pitch, levels, PB & CMZ ↓ them.
Cavernous sinus thrombosis: pain, neural = high-pitch CBZ ↓ all other AEDs except PB. PB ↓
proptosis, visual loss Weber = forehead, Rinne = mastoid
all. PTN ↓ all. VPA ↑ all (displaces PTN
Diptheria polyneuropathy: Menieres Dz: vertigo, low-pitched from plasma proteins)
opthalmoplegia tinnitus, low-pitch deafness (high pitch
Phenobarbital SE: Dupuytren’s
Tolosa-Hunt: eye pain + opthalmoplegia late), fullness in ear, nystagmus.
contractures. T1/2 = 96hrs.
+ V1 sensory loss. Pupil spared. Lesion in Endolymphatic duct ruptures into scala
Dilantin: Atrophy of Purkinje and
cavernous sinus/SOF (III, IV, V1, VI) media dumping K into perilymph. Hair
granular layers of cerebellum.
Thyroid: afffects inferior & medial rectii cell degeneration. Tx: salt restriction,
Neuropathy, gingival hyperplasia,
(upgaze affected more than lateral) diuretics
hirsutism arrythmias/ hypotension IV;
Optic nerve thickening: Graves dz, Vestibular neuronitis: Vertigo without
interferes w/vitamin K – bleeding & ↑s
orbital pseudotumor, optic neuritis, tinnitus, deafness. Viral, self-limited (also
coumadin. T1/2 = 24hrs.
papilledema, cav-mal, glioma, caused by ASA, EtOH, quinine,
Tegretol: leukopenia/pancytopenia. ↑ by
meningioma, lymphoma, met aminoglycosides. ASA also causes
erythromycin. T1/2 = 12hrs.
Orbital pseudotumor: enhancing mass, tinnitus.)
Valproate/Depakote: GABA agonist. SE:
enlarges muscles or optic n., resembles Benign positional vertigo: middle-age,
thrombocytopenia, alopecia, pancreatitis,
lymphoma elderly. Turning head to affected side
neural tube defects. T1/2 = 8hrs.
Schirmers test: measures tear production causes vertigo & rotatory nystagmus.
Felbamate: aplastic anemia/ hepatotoxicity
(Sjorgens) Calcified otolith in posterior semicircular
(not used).
Leber’s optic atrophy: centrocecal canal. Tx: exercises.
Absence: 3/s spike-wave. Last 10-15sec,
scotoma, young men, mitochondrial DNA Presbycusis: neuronal degeneration,
(+) automatisms, no aura, no postictum.
mutation high-pitch loss
Partial-Complex: Last 90sec,
Neonates: no red reflex = congenital Pulsatile Tinnitus: dural AVM, glomus
automatisms, aura, postictum.
cataracts; white reflex = retinoblastoma tympanicum, aberrant ICA
Geschwind syndrome: hyperreligious,
Heterochromia iridis: due to congenital Seizures
philisophical – from ↑ hippocampal
Horners, injuries to sympathetic n. to Seizure foci: high glycine, extracellular
activity/ kindling (attach emotional
pupil during birth. Causes different color K; low GABA, taurine. Decreased binding
significance to all stimuli).
eyes (blue/brown) & anisocoria. and removing Ach. Surrounding = high
Mesial temporal sclerosis: neuronal loss
Sympathetic innervation required to eyes GABA. Diencephalon inhibits – goes
in Ca1,3,4 & dentate gyrus. (Spares Ca2,
to change from blue to brown. May be from tonic to clonic. Caused by cortical
subiculum – unlike hypoxia). ↓
AD. pyramidal cells (glu)
somatostatin & neuropeptide Y neurons.
Myopia corrected by concave lens; AEDs: Neonatal = phenobarb. Complex
Axonal sprouting in dentate (mossy fibers).
astigmatism by cylindrical lens; hyperopia partial = tegretol > dilantin. Absence =
Seen in 65-70% of temporal lobe epilepsy.
by convex lens. ethosuximide > depakote. Myoclonic &
MRI 80-90% sensitivity. Possible related
Coloboma: Gap in the eye due to failure atonic = depakote (ACTH in infants).
to febrile seizures.
of embryonic fusion of choroid fissure, Lennox-Gastaut = depakote.
Lennox-Gastaut: 2-6yo. Partial complex,
usually in iris. Preeclampsia = MgSO4. Absence status
Drop attacks, GTC. Cognitive decline. 2/s
Amblyopia: “Lazy eye”, can be do to = IV BZDs. Complex partial status same
spike/wave. TS may develop. Tx:
anything that causes unilateral ↓ vision – as GTC.
Depakote.
usually cross-eye. Patch good eye. Best 2- Pregnancy: Recommened to continue
Rasmussens: Intractable focal epilepsy w/
4yo, 7-9yo latest. during. Risk of anomlies ↑ from 2% to
progressive hemiparesis, 3-15yo, 50%
Ocular albinism: defect in tyrosinase 4% (equal w/all AEDS). PTN ↑ bleeding
epilepsia partialis continua. Meningitis/
gene, ↓ melanin in retina > misrouting of – give vitamin K, depakote ↑ neural tube
encepahlitis, perivascular cuffing, ?Abs to
fibers to LGB results in disordered defects.
glutamate receptors. Tx: steroids
layering in LGB > lack of binocular vision Mechanisms: Na channel blockers: PTN,
Infantile spasms: “salaam spasms”,
& diplopia Tegretol, Lamotrigine, Neurontin,
myoclonic head jerks. Tx: ACTH. Can
Junctional scotoma: lesion at junction of topiramate (& other new drugs); Barbs &
occur in Tuberous sclerosis, PKU, Sturge-
optic n. & chiasm. Ipsilateral scotoma + benzos (& topiramate) ↑ GABA; Weber or Wests syndrome
contralateral superior quadrantopsia Felbamate NMDA block; Topiramate Wests syndrome: infantile spasms, EEG:
(Meyers Loop) AMPA block; Tigabine blocks GABA hypsarrythmia (large slow waves), MR.
Meyers loop (optic chiasm) vs von reuptake; ethosuximide & zonisamide ↓ Several hundred szs per day. Begins 3-
Willebrands knee (temporal): Both give Ca current. 8mo, disappears by 5yo, Can lead to
pie-in-the-sky (superior quadrantopsia). Interactions: All ↑d by INH; PTN & CBZ Lennox-Gaustaut.
Willebrands = homonymous. Meyers =
↑ by chloramphenicol (also PB), Hyperexplexia: startle, glycine receptor
ipsilateral scotoma.
cimetidine, diltiazem, demerol ( also PB), defect, Tx: clonazepam
Retinal emboli: Cholesterol (Hollenhorst
Omeprazole; CBZ & VPA ↑ by Benign juvenile myoclonic epilepsy:
plaque) = ICA. Calcific = cardiac valves.
erythromycin; ASA ↓s all; PTN ↓d by common cause of myoclonus in
Platelet-fibrin = large vessel mural
antacids, cipro, rifampin, warfarin?, & adolescents. Initally occur after waking. 4-
thrombi. Fat = long bone fracture.
others, ↑ by sulfa, uremia. Dialysis affects 6Hz spike-wave. Depakote. Does not
resolve w/age.
Benign childhood epilepsy w/ organ dysfunction, polydactyly AR, Chr into interhemispheric fissure, parallel
centrotemporal spikes: nocturnal, focal 17, LIS1 gene lateral ventricles. May have MR. “Bat-
face, drooling, resolves by 16yo. Norman-Roberts wing” deformity.
Breatholding spells: after startle, for of Walker-Warburg: lissencephaly, Aicardi’s syndrome: agenesis, infantile
syncope, can include myoclonus, resolves congenital myotonic dystrophy, spasms, MR, chorioretinitis
by 6yo, no ↑ risk of epilepsy hydrocephalus, agyria, retinal dysplasia/ Joubert syndrome: AR, dysgenetic split
Febrile szs: GTC, <15min, nonfocal, micropthalmia, ± encephalocoele. AR. vermis, MR, agenesis, polydactyly,
single, 6mo-5yr. No ↑ risk later szs Type II. oculomotor probs, cystic kidneys.
(others say ↑ to 1%). <1yo requires LP to X-linked lissencephaly – subcortical band Rhombencephalosynapsis: fused
r/o meningitis. heterotopia: Doublecortin (DCX), a MAP cerebellum
Myoclonic Szs: Lafora body Dz, Pachygria: cortex has 4 layers (not 6). Phakomatoses: All AD except Sturge-
Unverrict-Lundborg (8-13yo, no 12-16wks. Weber
dementia, cystatin B cysteine protease Heterotpoias: Nodular/ periventricular: NF1: Chr 17, 50% sporadic.
mutation), ceroid lipofuscinosis, normal IQ, szs. Familial: X-linked (lethal Neurofibromin: tumor suppressor, inhibits
sialidosis, MERRF. in males), Filamin-1. Subcortical Band: ras oncogene by ↑ Ras-GTPase (also ?
Lafora disease: AR, Lafora bodies: MR, szs EGFR, p53)
PAS+ basophilic intracytoplasmic Polymicrogyria: 4 layer cortex, MR, szs Skin: >6 café au lait, axillary freckling,
polyglycosan inclusions in brain, skin, Cortical dysplasia: focal areas of Eye: Lisch nodules (iris), buphthalmos
liver (Bx). Begins 11-18yo, myoclonic abnormal cortical cytoarchitecture (cow-eye, due to lid neurofibroma), retinal
szs, dementia, die by 25yo; Labs WNL. Schizencephaly: familial: defect in phakomas
Tx: Depakote, methsuximide EMX2 homeobox gene Spine Xray: enlarged foramen, scoliosis,
Temporal lobectomy: most often causes Colpocephaly: Seen in agenesis of corpus vertebral scalloping, dural ectasia, lateral
superior quadrantopsia callosum, periventricular leukomalacia. thoracic meningocoele.
EEG: Activity comes from pyramidal Damage to white matter 2-6mos gestation. CNS lesions:
cell synaptic potentials – synapses from Aperts: Syndactyly, cleft palate, ± frontal 1. meningoangiomatosis (collars of
thalamic (downward deflection) and encephalocoele, severe MR, prognathism meningothelial cells around vessels)
cortical (upward) axons on pyramidal (anterior open bite). Coronal only 2. sphenoid dysplasia (empty orbit)
dendrites (not nonpyramidal cells or (turribrachycephaly); GI/GU/cardiac 3. moya-moya, aneurysms, ectasia
action potentials) anomalies 4. white matter nonneoplastic
GTC: high frequency, high amplitude Crouzons: Malformed ears, agenesis of “hamartomtous” lesions: dysplastic
waves. Focal sz: low frequency (2-4Hz), the corpus callosum, malaligned upper glia, diminish w/age, ↑ T2, can
rectangular wave. 40% have interictal teeth, variable sutures. Increased HCP, enhance – obtain serial MR
activity (60% w/multiple EEG). Vertex Less severe MR (64% IQ >90) Both: AD, 5. BG lesions: ↑ T2, nonenhancing
transients: normal, at skull vertex, may be hypertelorism, blindness, deafness, CNS tumors: optic gliomas, spinal
confused with spike. Stage 2. Other exorbitism. astrocytoma, neurofibromas
normal variants: Lamba(awake) & POSTS Carpenter syndrome: all sutures fused Other tumors: plexiform neuromas
(asleep, both triangular), K-complex Holoprosencephaly: Alobar: Severe common in V1, visceral, endocrine tumors
(arousal during stage 2 sleep), .14 & 6 facial abnormalities, monoventricle, no NF2: Chr 22, Protein: Merlin (aka
rhythm (kids, drowsiness) septum, falx, fused thalami/ BG. Maternal Neurofibromin2, schwannomin). Links
PET: foci ↓ interictal, ↑ during sz. diabetes, trisomy. Semilobar: partial falx membrane to actin cytoskeleton. Tumor
Posttraumatic: open (bullet/ shrapnel) = & interhemispheric fissure. Lobar: no suppressor. (Also in regular schwannomas
50%, Closed = 5%. facial abnormalities, grey matter over & meningiomas)
Developmental/Genetic corpus callosum, anterioinferior fusion of No lisch nodules or cerebrovascular
Reflexes: Disappear: rooting 3mo; moro cortex, squared frontal horns, thalami/BG abnormalities (Café-au-lait, cutaneous or
& grasp 6mo; Babinski 6-12mo (abnormal separated. Azygous ACA common. plexiform neurofibromas rare).
>2yo). Parachute appears 9mos. Septum absent in all. Skin plaques (rough, raised, hairy areas),
Achondroplasia: Chr 4, spinal stenosis, Septo-optic Dysplasia: Absent septum & juvenile cataracts, calcified choroid plexus,
hydrocephalus optic nerve hypoplasia. 50% meningiomatosis
Neural Tube Defects schizencephaly. 50% pituitary Tumors: Bilateral acoustic schawnnomas
Anencephaly: most common congenital dysfunction, ectopic pituitary (or 1 w/family history), other CN
malformation. Area cerebrovascula Arrhinencephaly:: no olfactory tracts, schwannomas, spinal ependymoma,
contains vessels, nerve tissue. Decreased grey matter in place of corpus callosum. meningiomas (multiple, kids),
maternal folate, zinc or copper. Kallmans syndrome: anosmia, astrocytomas,
Neuronal Migration Disorders hypogonadism (GnRH neurons in Tuberous sclerosis: Bournvilles, , usu
Mouse models: mutant reelin gene hypothalamus missing – derived from sporadic, Chr 9/11/16, variable penetrance;
Lissencephaly: Chr 17 deletion assoc. olfactory placode like olfactory receptor Genes: TSC1 (chr9, hamartin), TSC2
Type I: 4 layer cortex w/ thin overlying neurons), MR. (chr16, tuberin). Tumor suppressors,
white matter. Type II: no layers, Agenesis of corpus callosum: Partial = functions unknown
glioneuronal heterotopias. splenium, rostrum. Probsts bundles (white Triad: adenoma sebaceum, 65% MR,
Miller-Diecker: lissencphaly, pachygyria, matter periventricular bundles), 50% seizures (infantile spasms). Seen in <50%;
microcephaly, abnormal facies, multiple associated abnormalities (chiari, Dandy- CNS lesions:
Walker). High riding 3rd ventricle opens
1. Cortical tubers: <5% enhance, no Trisomy: Pataus (13) = hypotelorism, Mucopolysaccharidoses:
transformation, thick gyri cleft lip, polydactyly, dextrocardia, All AR except Hunters, ↑
2. Subependymal nodules: candle holoprosencephaly, microcephaly/ glycosaminoglycans
gutterings, 1/3 enhance, calcify (can opthalmia, hypertonia, cataracts, severe Hurlers: α-L-iduronidase, ↑ dermatan &
see on Xray), no transformation MR. Edwards (18) = hypertelorism, heparan sulfate, gargoyle face, MR,
3. Subependymal giant cell astrocytoma dolichocephaly, microgyria, cortical corneal opacity, thick meninges
4. Hamartomatous white matter lesions dysplasias, callosal agenesis, Chiari II, Scheies: milder, no MR
5. Aneurysms, stenoses syndactyly, VSD; Downs (21) = Hunters: X-linked, iduronate sulfatase,
Skin: ash leaf spots, subungal fibromas, hypotelorism, brachycephaly, heart dz, skin pebbling, normal corneas, ↑ dermatan
shagreen patch; Alzheimers, cataracts, small abnormal & heparan sulfate, no MR
Tumors: cardiac rhabdomyomas, retinal brain, BG calcification, moyamoya, os Sanfillipos: heparan sulfate in urine,
phakomas/angiomyolipoma, visceral odontoidium, spinal stenosis. Most cortical atrophy
cysts, pancreatic & liver adenoma common cause of MR. Fragile X = most Morquios: skeletal deformities,
(malignant > benign) tumors common hereditary MR, 1/3 female, large
ligamentous laxity, ↑ keratan SO4
Sturge-Weber: nonhereditary, port wine ears, arched palate, hypotelorism, vermian Sly: odontoid hypoplasia
stain in V1, focal seizures, hemiparesis, hypoplasia, large testes, hyperextensible,
Morquios & Scheies & Maroteaux-Lamy:
hemianesthesia, tramtrack calcification of prominent thumbs (carrier women: arched
normal IQ
cortex (not cortical vessels), large palate, hypotelorism). Trinucleotide
Farber: ceramidase def., ↑ chondroitin
enhancing choroid ipsilateral, repeats.
SO4. Hoarse cry, arthropathy, skin
leptomeningial angioma (enhances), Cri-du-chat: 5q deletion, severe MR,
granulomas, MR
hemispheric atrophy, glaucoma in kids microcephaly, hypertelorism
Leukodystrophy:
VonHipel-Lindau: Chr3, AD, variable Praeder-Willi: 15p deletion, obesity,
AR except ALD & P-M.
penetrance; hemangioblastoma (CNS + hypogonadism, mod MR
Adrenoleukodystrophy: peroxisome def.,
retinal), renal cell, pheochromocytoma, Klinefelter: XXY, male hypogonadism,
X-linked, male children, long chain fatty
viceral tumors/cysts, erythrocytosis; 25% MR
acid accumulation (peroxisomal defect),
hemangioblastomas have VhL. No skin Turners: XO, no MR, CNS probs
perivascular lymphocytes (others – no
lesions. Lesch-Nyan: X-linked. HPRT deficency.
inflammation), begins occipital, bronze
Klippel-Trenaunay-Weber: spinal cord ↑ uric acid, gout, coreoathetosis, self-
skin, ↓ cortisol (adrenal)
hemangioma & enlarged limb mutilation. Tx allopurinol
Alexanders: rosenthal fibers, sporadic,
Rendu-Osler-Weber: AD, AVMs (lung, Lawrence-Moon-Biedl: GnRH deficency
frontal, megalencephaly/ macrocephaly
liver, brain) and skin telangetasias, (like Prader-Willi). Hypogonadism,
(above 2 enhance). Etiology unknown. No
epistaxis, aneurysms, pulmonary AVF retinitis pigmentosa, polydactyly, MR
serum test – requires Bx.
Wyburn-Mason: unilateral facial nevi w/ Sphingolipidoses: all AR except Fabrys.
Canavans: spongiform, complete
optic pathway/midbrain AVMs Cherry-red spot from greying of nerve
demyelination, aspartoacylase, ↑ N-
Cowden Disease: AD, germline PTEN axons which ↑s prominence of fovea (no
acetylaspartic acid. Infants. Affects U-
mutation. Cobble-stone fibromas of oral axons). Most have accumulation in
fibers (subcortical arcuate fibers - all
mucosa, multiple hamartomas: skin, neurons with distension & glassy
others spare), Internal capsule spared,
thyroid, breast, adnexal. Lhermitte-Duclos appearance.
macrocephaly
(also neuromas, neurofibromas, Hepatosplenomegaly in Niemann-Pick &
Krabbes: galactocerebrosidase, psychosine
meningiomas). Gauchers?, Sandhoffs.
kills oligodendrocytes, globoid cells (large
Li-Fraumeni: AD, p53 germline Fabrys: α-galactosidase (lysosomal), ↑ multinucleated, nuclei at periphery), BG
mutations, various brain tumors (mostly ceramide trihexosides, pain episodes, X-
density, ↑ startle, spasticity w/ ↓ DTRs,
glioma), sarcomas, etc linked. Childhood strokes (brainstem),
normocephalic. Neuropathy (endoneurial
Turcot syndrome: AD, colon polyps/ CA neuropathy (autonomic, lipid in
fibrosis).
& medullos, GBM. APC germline epineurium & endoneurium – not
Metachromatic leukodystrophy: AR, most
mutation in some. Schwann cells)
common, arylsulfatase A, ↑ sulfatides
Basal cell nevus syndrome (Gorlin’s): Gauchers: glucocerebrosidase, Jews,
(urine). <2yo, juvenile, or adult. Dx: nerve
AD. PTCH mutation (Chr9q): Patched,
nonneural. ↑ AFP. ↑ Glucocererbrosides.
Bx (PAS+), MR, ataxia, myelopathy,
Sonic-hedgehog receptor (Shh > binds
Niemann-Pick: sphingomyelinase,
infants. Neuropathy: sulfatides in
Ptch > releases inhibition of Smoothened
supranuclear vertical gaze paresis, Jews,
peripheral nerve Bx (macrophages &
> TGFβ, Gli, Wnts). Basal cell CA (esp normal HC, hepatosplenomegaly
Schwann cells): eosinophilic,
around eyes & nose, at puberty), jaw Sandhoff: Hexosaminidase A & B, non-
metachromasia w/ cresyl violet, toluidine
cysts, skeletal abnormalities (synostosis, Jews, hepatosplenomegaly
blue, or pseudo isocyanin stains (affinity
hypertelorism, frontal bossing, Tay-Sachs: Hexosaminidase A, rectal Bx,
for iron, all blue).
prognathism, Sprengels), calcified falx, Jews, macrocephaly (no visceromegaly),
Pelizaeus-Merzbacher: Complete absence
plantar/ palmar pits. Pitted teeth, cleft lip/
Zebra bodies on EM. Carriers: 50% ↓ of myelin. No dysmorphia, X-linked,
palate, ocular defects, cataracts.
Hex-A in blood (also DNA testing)
proteolipid protein (myelin) deficiency,
Hydrocephalus, seizures, MR, deafness.
Both of above: ↑ GM2 gangliosides “tigroid” pattern (myelin spared around
Medulloblastoma, meningiomas.
accumulate, cherry-red macula (& vessels), 100% pendular nystagmus,
Gardner’s syndrome: osteomas, colonic
Niemann-Pick, Pseudo-Hurlers) become symptomatic as infants, may
polyposis, soft-tissue tumors
Pseudo-Hurlers: βgalactosidase, ↑ GM1 survive to adulthood, sudanophilic (sudan
gangliosides, cherry-red spots stain)
Cockaynes: AR, dysmorphic facies, (ketoacidosis), lactic acidosis. Bilateral X-linked: Fabrys, Hunters, ALD,
microcephaly, premature aging, deafness, “Punched out” (hypointense) GP - ?2° to Pelezius-Merzbacher, Menkes, Lowes,
photosensitivity, defective DNA repair, ischemia. Tx: Limit protein, some respond Lesch-Nyan. AD: Huntingtons
striatocerebellar calcification, retinitis to B12. Adult: MLD, Krabbe, Sanfillipos,
pigmentosa Lowes Syndrome: Oculocerebral Renal. Glycogen stroage Dz, Wilsons, Leigh,
Canavans & Alexanders: macrocephaly X-linked. Defective AA transport. MR, Niemann-Pick, Gaucher, ceroid
Cockaynes & P-M: 100% nystagmus Fanconi’s, rickets. Small CSF-like spheres lipofucinoses, MELAS/ MERRF
Aminoacidurias also cause in white matter. Laurence-Moon-Biedl: AR. MR, retinitis
leukodystrophy Glutaric acidemia: dilated sylvian fissures, pigmentosa, hypogonadism, spastic
Zellweger syndrome: AR, migration abnormalities paraplegia, obesity, polydactyly, cataracts,
polymicrogyria, hypomyelination, Mitochondrial: MELAS, MERFF, Leigh renal anomalies,
peroxisomal defect, cerebrohepataorenal (AR, ↑ pyruvate & lactate, BG/ PVG/
Refsums: AR, phytanic acid, ichthyosis, PAG spongiform necrosis, ↑ T2), Kearns- Pain/Functional
deafness Cluster headaches: increased intraocular
Sayre (AD, ↑ pyruvate, retinitis
DNA Repair defects: Cockaynes, Ataxia- pressure & skin temp (vs migraine). Tx
pigmentosa), Lebers hereditary optic
Telangiectasia, Xeroderma Pigmentosa 100% O2, ergotamine. (Methysergide
atrophy, Menkes.
(cerebral, cerebellar atroophy, ataxia, causes retropleural/peritoneal fibrosis).
Maternal inheritance. Most cause
MR), Fanconis anemia, Blooms CCBs, steroids, Lithium may be
encephalopathy & myopathy, ↑ lactate.
Lysosomal disorders: MLD, Krabbe, prophylactic.
Ragged red fibers: abnormal mitochondria
Niemann-Pick, Fabry, GM1 & 2 Migraine: Classic = visual aura; common
(on Gomori stain)
gangliosidoses (Tay-Sachs etc), Canavan, = no aura; basilar = more severe
Trinucleotide repeats: found in Fragile
all mucopolysaccaridoses, ceroid (blindness, hemiplegia, coma). Tx:
X, myotonic distrophy, huntingtons,
lipofuscinoses Abortive: Sumatriptan (CI: CAD) >
spinocerebellar atrophies, friedrich’s
Peroxisomal disorders: Zellweger, ALD Ergotamine (N/V), Midrin. Prophylactic:
ataxia. Cause anticipation (worse/ earlier
Glycogen Storage Diseases: verapamil (CCBs), amitriptyline (TCAs),
in successive generations)
All AR, glycogen accumulation, propanolol, Depakote prevent.
Neuronal ceroid lipofuscinosis:
myopathies. Postcoital HAs may mimic SAH.
Accumulation of lipid pigments ceroid &
Pompes (Type II): acid maltase, Chr 17, # Narcolepsy: REM occurs at onset (stages
lipofuscin. Kids (Batten’s) or adults.
forms: 2 childhood & 1 adult, accumulates reversed). 70% have cataplexy
Dementia (kids), szs, blindness,
in DRG, ant horn & throughout body; (consciousness preserved); sleep paralysis,
myoclonus. Kids die, adults variable
PAS+ vacuolar myopathy hypnagogic hallucinations (not
course. Cortical atrophy (grey matter dz,
McArdles (Type V): myophosphorylase, somnambulism). Tx: Ritalin, TCAs. Total
not white).
cramps during exercise, myoglobinuria, number hours sleep per day is normal
Channelopathies:
(+) ischemic exercise test (lactate doesn’t Cataplexy: consciousness preserved
K+: ataxia-myokymia, long QT, benign
rise), glycogen in muscle only Raynauds: mast cell dysfunction,
familial neonatal convulsions (KCNQ2/3),
Tauris: phosphofructokinase def. Excerise sympathectomy not helpful
Issacs syndrome
cramps (as above) + hemolytic anemia (↑ Ca+: Eaton-Lambert, Hypokalemic Dejerine-Roussy: from VPM/VPL
retics). periodic paralysis (skeletal muscle thalamus
Aminoacidurias dihydropyridine-sensitive Ca channel), Vascular
AR except Lowes. Cause Malignant hyperthermia (mutation in Stroke: 12-24h = neuronal necrosis starts,
leukoencephalopathy, demyelination. RYR1 gene for muscle SR ryanodine- 1-2d = PMN infiltrate; 5-7d = lipid-laden
Phenylketonuria (PKU): AR, channel), familial hemiplegic migraine, macrophages (gitter cells), 10-20d =
phenylalanine hydroxylase deficiency, ↑ episodic ataxia type 2 gemistocytic astrocytes; >3m fibrillary
phenylalanine, phyenylpuruvic acid, ↓ Menke’s kinky hair: X-linked, defective astrocytes
tyrosine; MR, seizures, musty odor; GI copper absorption, seizures, MR, Lacunar: lipohyalinosis (HTN)
blond, blue-eyed. tortuous intracranial vessels Atherosclerosis: fatty streak > foam cells.
2% tandem lesions
Biopterin deficency: PKU Variant. ↑ Familial dysautonomia (Riley-Day):
Vasculitis: Wegeners:
phenylalanine, normal hepatic AR, Jewish children, small fiber
Glomerulonephritis, lung/sinus
phenylalanine hydroxylase, Stiff-baby. neuropathy – loss pain/temp, autonomic
granulomas, neuropathies Antineutrophil
Homocysteinuria: AR. cystathionine dysfxn (loss of tears on crying, corneal
cytoplasmic antibodies (ANCA).
βsynthetase deficiency. ↑ methionine, & ulceration, nonreactive pupils,
Necrotizing. Small arteries. Tx:
homocysteine > collagen formation temperature dysregulation, sweating,
Cyclophosphamide.. Takayasu: pulseless
disorder. 50% MR, osteoporosis, hypotension, dysphagia, vomiting, ileus,
disease (aorta), vision loss & loss of
cataracts, infarcts/ thromboses. poor feeding), hyporeflexia. No tongue
peripheral pulses. Kawasaki: lymph nodes,
Arachnodactyly & lens ectopia (like papillae. No tx.
aneurysms; Buergers: tobacco; Behcet:
Marfans, Marfans has no MR) Tx: Vit B6. Hirschprungs: defect of neural crest
Japan/Mediterranean, oral/genital ulcers,
Methylmalonic acidemia: AR. migration, Chr 10.
uveitis, colitis, rash, brainstem
Mitochondrial. Methylmalonic-CoA > Orofacial Digital Syndrome: Only
encephalitis. Steroids.
Succinyl-CoA by methylmalonyl-CoA females. Psudoclefts of mandible, tongue,
Also: amphetamines, ergot, cocaine.
mutase (deficient – requires B12). palate. Hypertrophied buccal frenuli.
Temporal arteritis: All > 60yo. ECA only
Neonatal encephalopathy, seizures, stroke. Tongue hematomas. Alopecia. MR.
(except ophthalmic). Giant cells. Skip
↑ ammonia, glycine, propionic acid