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Rapid Review Step 1 > Neurology > Flashcards

Neurology Flashcards

1
Q

Li-Fraumeni syndrome

A

TP53 Mutation
Autosomal dominant
Caused by inactivating mutation in corresponding tumor suppressor gene
Deletion of remaining normal allele (second hit) leads to loss of heterozygosity & malignant transformation
Sarcomas, Breast cancer, Brain tumors, Adrenocortical carcinoma, Leukemia

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2
Q

Trigeminal Neuralgia

A

Sudden severe pain in the distribution of CN-V (particularly V1 &V2)
Pain is like stabbing or electric shock
triggered by chewing, brushing, shaving, washing the effected area etc.
Carbamazepine is DOC

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3
Q

Horners Syndrome

A

Ipsilateral
Ptosis, Miosis, Anhydrosis

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4
Q

MCA Occlusion

A
  • Contralateral Hemiparesis
  • Contralateral Hemisensory loss of face and upper limb, lower limb usually preserved,
  • If in dominant hemisphere (usually left) aphasia may also occur.
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5
Q

PCA Occlusion

A

Contralateral Hemianopia with Macular sparing (contralateral supply from MCA)

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6
Q

AICA Occlusion

A

Causes Lateral Pontine Syndrome
Ipsilateral loss of pain or temperature in the face (trigeminal nucleus),
Ipsilateral facial weakness (facial nucleus),
Ipsilateral hearing impairment (cochlear nucleus),
Contralateral loss of pain and temperature in the trunk and extremities (lateral spinothalamic tract),
Cerebellar dysfunction (eg, ataxia, dysmetria).

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7
Q

Anterior communicating Artery Aneurysms

A

compress the central optic chiasm, causing bitemporal hemianopia

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8
Q

Posterior communicating Artery Aneurysm

A

compresses the oculomotor nerve,
Ipsilateral mydriasis, Ptosis,
“down and out” eye deviation

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9
Q

ACA Occlusion

A

Contralateral motor & sensory deficits,
lower limb affected more than upper limb
Bilateral occlusion causes significant behavioral symptoms (eg, abulia), primitive reflexes (eg, Moro, grasp), and urinary incontinence due to damage of the prefrontal cortex.

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10
Q

Basilar Artery Occlusion

A

damages base of pons, contains the corticospinal and corticobulbar tracts, and the paramedian tegmentum.
Patients typically have Quadriplegia, Bulbar dysfunction (eg, facial weakness, dysarthria), and Oculomotor deficits (eg, horizontal gaze palsy).

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11
Q

Neurofibromatosis type I

A
  • Café-au-lait spots,
  • Lisch nodules (iris hamartoma),
  • cutaneous neurofibromas,
  • pheochromocytomas,
  • optic gliomas
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12
Q

Neurofibromatosis type II

A

Bilateral vestibular schwannomas

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13
Q

Guillain-Barré syndrome

A

(acute inflammatory
demyelinating polyneuropathy)
Rapidly progressive limb weakness that ascends following
GI/upper respiratory infection

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14
Q

Multiple sclerosis

A

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia, optic neuritis
Optic Neuritis: pain with eye movement, intermittently decr vision, swelling of optic disc.

May worsen with heat exposure

Demylinating plaques commonly seen as hyperintense lesion on MRI of brain and spinal cord.

Plaques in the white matter.

Increase IgG in the CSF.

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15
Q

Normal pressure hydrocephalus

A
  • Urinary incontinence,
  • Gait apraxia,
  • Cognitive dysfunction
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16
Q

Huntington disease

A

(autosomal dominant CAG repeat
expansion)
“ C D C “
Chorea, Dementia, Caudate degeneration

Enlargement of Lateral Ventricles is seen in the brain.

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17
Q

Parkinson disease

A

(loss of dopaminergic neurons in
substantia nigra pars compacta)
Resting tremor, rigidity, akinesia, postural instability,
shuffling gait, micrographia

“ T R A P “
T = Tremor
R = Rigidity (Cogwheel rigidity)
A = Akinesia
P = Postural instability

Lewy bodies seen on histology which are made up of Alpha-synuclien.

Depigmentation of substania niagra can be seen on autopsy.

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18
Q

Klüver-Bucy syndrome

A

(bilateral amygdala lesion)
Hyperphagia, hypersexuality, hyperorality

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19
Q

Wernicke encephalopathy

A

Caused by Vitamin-B1 (Thiamine) deficiency in alcoholics
Confusion, Ophthalmoplegia/Nystagmus, Ataxia (add confabulation/memory loss for Korsakoff syndrome)
Damage to Mamilliary bodies.

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20
Q

Cri-du-chat (cry of the cat) syndrome

A

Microcephaly, high-pitched cry, intellectual disability

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21
Q

Toxoplasmosis

A

Multiple ring enhanced lesions around pareital lobe, from cat feces

22
Q

Congenital CMV

A

spastic diplegia of legs,
hepatosplenomegaly,
blinding,
Central calcifications

23
Q

Hyperammonemia

A

flapping tremor (asterixis), slurring
of speech, somnolence, vomiting, cerebral
edema, blurring of vision.
CNS toxicity
may involve  GABA,  α-ketoglutarate, TCA
cycle inhibition, and cerebral edema due to
glutamine-induced osmotic shifts.

24
Q

Diabetic Mononeuropathy

A

Hx of Diabetes
Microvascular damage to tissues (i.e Nerves)
Can cause Abducens nerve palsy present as
Esotropia
Unilateral adduction deficit
Diplopia in horizontal gaze

25
Q

Waterhouse-Fredriechsen Syndrome

A

Is caused by gram –ive diplococcus
Niesseria Meningitis
Meningitis, Sepsis, DIC, Bilateral adrenal hemorrhage.
Adrenal insufficiency presents as:
Hypotension, Hyperkalemia, Hyponatremia and Hypoglycemia due to deficiency of aldosterone and glucocorticoids.

26
Q

Bells Palsy

A

Isolated facial nerve palsy (CN-VII)
Typically secondary to HSV reactivation
Complete ipsilateral facial weakness involving forehead,
1- Loss of forehead or brow movements.
2- Inability to close eyes & drooping of eyelids.
3- Loss of nasolablial folds & drooping lower lip

Taste and hearing abnormalities, (Loss of taste ant 2/3 of tounge & Hyperacusis)
Decreased tear production
Loss of sensation from portions of pinna to EAC

27
Q

Occulomotor Nerve Palsy

A

Occulomotor nerve innervates motor innervation to levator palpebrae superioris, Superior, Medial, Inferior rectus muscle and inferior oblique muscle
Deficit presents as:
Ptosis, Exotropia, Hypotropia

28
Q

Abducens Nerve Palsy

A

Abducens Nerve exits brainstem ventrally to pontomedullary junction.
Innervates the lateral rectus muscle of eye
May result from microvascular ischemia
Presents as;
Binocular horizontal diplopia
Ipsilateral abduction deficit of effected eye.

29
Q

Myotonic Dystrophy

A

Expansion of Trinucleotide repeat CTG
Type-1 : DMPK gene
Type-2 : CNBP gene
Characterized by:
Ptosis, Facial muscle atropy, Muscles weakness, Myotonia, Cataracts, Frontal balding, Cardiac arythmias, Hypogonadism.

More frequently affected muscles are facial muscles, sternlcloidomastoid, distal forearm, instrinsic hand and ankle dorsiflexion.

It is assosiated with presence of ring fibers and central nuclei on muscle biopsy.

30
Q

Anticholinestrase poisoning
Aka Organophosphate poisoning

A

Irreversible inhibition of acetylcholinesterase
Symptoms include:
Vomitting, Diarrhea, Diaphoresis, Urination, Lacrimation, Salivation, Bronchorrea, Bronchospasm, Bradycardia, Siezures, Muscle weakness
Responsible toxins are:
Parathoin , Fenthoin , Malathoin.
Tx:
Atropine : antagonizes muscranic receptors.
Pralidoxime : Regenerate function AchE.

31
Q

Tourrette syndrome

A

Motor and vocal tics that presist for > 1 year.
Tx: Fluphenazine, Resperidone

32
Q

Rett Syndrome

A

Only in girls
Decreased head growth
Hand wringing
Lose motor skills (Normal until 5 months of age)

33
Q

Malignant Hyperthermia

A

Widespread muscle rigidity after administration of inhalation anesthetics and/or succinylcholine to genetically susceptible individuals.
Genetic mutation in Rayanodine receptors
Unregulated sarcoplasmic Ca+2 release —> sustained muscle contraction

Symptoms:
- Masseter muscle spasm
- Widespread muscle rigidity
- Hypercarbia
- Rhabdomyolysis —> Hyperkalemia & ARF.
- Hyperthermia (late manifestation)

Dantrolene is used for treatment it directly inhibits intracellular Ca+2 release from abnormal ryanodine receptors (RYR1).

34
Q

Lewy-Body Dementia

A

Parkinsonism + visual hallucinations + cognitive decline.

35
Q

Sturge-weber syndrome

A
  • Cutaneous Angioma over head & neck (Portwine stain).
  • Focal/ generalized siezures.
  • Hemiparesis.
  • Intellectual disability.

Kids go on to develop Glaucoma.

36
Q

Tuberous Sclerosis

A

AD mutation in Hamartin gene (chromosome 9) or Tuberin gene (chromosome 16).

  • Hamartomas (can present anywhere in body).
  • Siezures.
  • Psychomotor delay.
  • Intellectual disability.
  • Adenoma sebaceum.
  • Ash-leaf spot & Shagreen patches.

Also assosiated with kidney tumors known as Renal angiomyolipomas and heart tumor i.e Cardiac rhabdomyoma.

37
Q

Chediak-Higashi syndrome

A

LYST gene : Defect in microtubule function.

Presents as;

   “  C A I N  “ C = Coagulopathy. A = Albinism. I = Infections. N = Neuropathy.
38
Q

Neonatal Herpes

A
  • Caused by HSV-2 infection
  • Characterized by:
    > Vesicular Rash
    > Encephalitis ( Siezures, CN palsies, Lethargy)
  • Typically acquired during delivery.
  • Usually occurs 2 weeks after birth no symptoms at birth.
39
Q

What is pituitary apoplexy?

A

Acute pituitary hemorrhage.

It usually occurs in the setting of a preexisting pituitary adenoma.

Symptoms include:
1. Severe headache
2. Bitemporal hemianopsia (due to compression of the optic chiasm)
3. Ophthalmoplegia (due to compression of the oculomotor nerve [CNIII])

40
Q

Neuroblastoma

A
  • Young child with large abdominal mass.
  • Urine shows elevated catecholamine metabolites.
  • Biopsy shows small, round, blue tumor cells.
  • This tumor is of neural crest cell origin.
41
Q

Waterhouse-Friderichsen syndrome is a potential complication of?

A

Meningococcemia.

It is characterized by bilateral hemorrhagic infarction of adrenal glands, resulting in acute adrenal insufficiency (eg, worsening shock).

42
Q

Parkinson disease (TRAP mnemonic)

A
  • Tremor
  • Rigidity
  • Akinesia/bradykinesia
  • Postural instability (late finding)
43
Q

Amyotrophic lateral sclerosis

A

UMN: degeneration & atrophy of lateral corticospinal tracts, precentral gyrus
LMN: degeneration of anterior horn (thin anterior roots) & cranial nerve motor nuclei
Muscle: denervation atrophy (angular fibers with crowded nuclei)

Clinical manifestations:
UMN symptoms: spasticity, hyperreflexia, pathologic reflexes

LMN symptoms: muscle weakness, atrophy, fasciculation

Treatment
Riluzole: reduces glutamate-induced excitotoxicity & improves survival

44
Q

Localizing signs: Brain Lesions

A
  • Eyes will look (toward) a stroke and (away from) a seizure.
  • Uvula will deviate (away from) the lesion.
  • Jaw will deviate (toward) the lesion.
  • Shoulder will droop (ipsilateral) to the lesion.
  • Tongue will deviate (toward) the lesion.
45
Q

What is the triad of Wernicke encephalopathy?

What structure is affected?

A
  • Ataxia, ophthalmoplegia (Nystagmus), and encephalopathy (Confusion).
  • Mamillary body are affected.
  • Cause: Thiamine deficiency (Alcoholics)
46
Q

Gerstmann syndrome

A
  • Agraphia (inability to write)
  • Acalculia (inability to solve mathematical calculations)
  • Finger agnosia (inability to identify individual fingers on the hand)
  • Left-right disorientation
47
Q

Myasthenia gravis

A

Autoantibodies against nicotinic acetylcholine receptors on the (post) synaptic membrane of the neuromuscular junction

Associated with Thymoma

48
Q

Lambert-Eaton syndrome

A

autoantibodies against voltage-gated calcium channels on the (pre) synaptic membrane of the neuromuscular junction

Associated with Small cell lung cancer (SCLC)

49
Q

Absence Seizures

A

Brief staring spell momentary loss of awareness, abrupt return to full conciousness.
3Hz spike wave of EEG
Rx: Ethuxomide (Inhibit T-type Ca+2 channels in thalamic neurons)

50
Q

Ménière disease

A

episodic vertigo, sensorineural hearing loss, and tinnitus with aural fullness.
increased volume and pressure of endolymph in the vestibular apparatus.

51
Q

Narcolepsy

A
  • Excessive day time sleepiness
  • Cataplexy (Episodic loss of motor tone, triggered by emotion.
  • Sleep Paralysis (Inablility to move on awakening)
  • Hypnagogic or Hypnopompic hallucinations.
  • Caused by lack of two neuropeptides:
    1. Hypocretin-1 (Orexin -A)
    2. Hypocretin -2 (Orexin-B)

Rapid Review Step 1 (24 decks)

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