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Flashcards in Neuro Deck (91):
1

9 year old girl presents w/
-weak ankle dorsiflexion, pes cavus, and stork-like appearance of the legs
-she has a history of clumisness
-sensory exam shows decreased sensation to light touch over both feet and impaired proprioception

Dx?
Inheritance?
What nerve is responsible for pts motor exam findings?

Charcot marie Tooth Dz = type 1
- AD -> demyelination
-MC affects nerves of LE

Nerve affected: Deep fibular nerve (supplies anterior compartment of leg; superficial: supplies lateral compartment of the leg)

2

What layer of the eye shows white opacifications in cataracts?

Lens

3

Anterograde vs retrograde transport of axons
-which uses dynein vs kinesin
-which one is used during latency vs reactivation?

Anterograde -> kinesin
-used during latency

Retrograde -> dyenin
-used during reactivation

****herpesvirus, poliovirus, rabies virus, tetanus use this

4

CN used in corneal reflex

Afferent: CN V
Efferent: CN VII

5

8 year old boy presents w/
-behavioral changes, mild intellectual deterioration, and laziness
-develops progressive clumsiness and frequent involuntary jerky movements
-CSF shows increased IgG
-he dies 2 years later

Dx?
Infection d/t?

Subacute sclerosing panencephalitis (SSPE)

Infection: measles
-nml infected by age 2 but takes about 6 years for symptoms to develop

6

What nerve innervates the muscles of the tongue (except pataloglossus)?

What happens to the tongue when this nerve is cut?

CN XII
-protrusion of the tongue causes it to point to the weak side (“Like your wounds”

7

What carriers tactile, proprioception, and vibratory information to
-ipsilateral UE
-ipsilateral LE

UE: cuneatus (lateral portion of dorsal columns)

LE: gracilius (medial portion of dorsal columns)

8

What carries
-UMN
-LMN

UMN: corticospinal tract

LMN: lateral corticospinal tract

9

What information is carried in
-dorsal horn
-ventral horn
-lateral horn

Dorsal: sensory

Ventral: motor (LMN)

Lateral: preganglionic sympathetic (horners syndrome)

10

Slow growing B9 tumor that is MC in elderly women
-originate from dura mater or arachnoid
-demonstrates hyperostosis: osteoblastic rxn to overlying cranial bone
-nml affects corticospinal fibers -> leg weakness

Dx
Histology
Tx

Intracranial meningioma

Histology: whorls of cells (Psammoma bodies)

Tx: surgical resection

11

Aggressive malignant astrocytoma (grade IV)
-MC in middle-aged/elderly
-histology: pleomorphic, hyperchromatic, anaplastic cells w areas of necrosis w/ pseudopalisading tumor cells surrounding them

Dx?
What would be seen on MRI

Glioblastoma multiforme
-MRI: ring-enhancing lesions/necrosis

Children: brainstem
Adults: cerebral cortex (corpus callosum -> butterfly glioma)

12

Glial tumor that causes leg weakness
-see round, central nuclei w/ clear surrounding cytoplasm
-MC in cerebral hemispheres

Dx?
MC age?

Dx: oligodendrogliomas
-describing the “fried egg” appearance
-MC in middle aged pts

**meningioma also causes leg weakness but shows psammoma bodies

13

Which part of the brain is in charge of memory formation?

Hippocampus

14

Brainstem lesion to
-midbrain
-upper pons
-lower pons
-medulla

Will affect which cranial nerves?

Midbrain: CN 3 and 4
Upper pons: CN 5
Lower pons: CN 6, 7, 8
Medulla: CN 9-12

15

Lesion to what nerve causes the tongue to deviate to the right upon protrusion?

CN XII on the right = “lick its wounds”

**opposite for uvula: CN X on the left will cause it to deviate to the right

16

Pt has nml perception but perception is devoid of meaning

Agnosia

17

The inability to recognize faces

-define
-MC d/t

Prosopagnosia

-infarcts of PCA

18

Impairment of reading

-define
-nml d/t

Alexia

Infarct of occipital cortex by occlusion of PCA

19

Impairement of writing

Agraphia

20

Lack of knowledge about ones own body
-denies that half of their body belongs to them

Asomatognosia

21

Pt has alexia, agraphia, acalculia (cannot perform math), finger agnosia, and right-left disorientation

-dx
-d/t

Gerstmann syndrome

-d/t lesion of angular gyrus

22

Inability to carry out an action after receiving a verbal command
-can imitate hand gestures but can’t do it when they are asked

Ideomotor apraxia

23

Cannot comprehend spoken language and their speech is fleunt but lacks meaning

-dx
-d/t
-what would you expect to see during an eye exam

Wernickes aphasia (aka receptive aphasia)

-d/t lesion of wernickes area in dominant temporal lobe

-eye exam: right upper visual field cut (right upper quadrantoanopia)
-werknickes area often contains a portion of meyer’s loop

24

-“What pathway” = processes colors, face,s letters, and other visual stimuli

-“where pathway” = analyzes spatial relationships between objects, the body and visual stimuli, and motion

What cortex is involved for each?

What -> temporo-occipital

Where -> parieto-occipital

25

Lesion to this area in the occipital lobe will lead to cortical blindess w/ a visual field defect

Calcarine sulcus -> primary visual cortex

26

A lesion in this nucleus will result in a contralateral hemianopsia

Lateral geniculate nucleus

27

Pt presents w/
-slow movements, tremor that goes away when performing a task
-dementia, psychosis, restless leg syndrome, insomnia, fatigue

Dx
Cause
Tx

Parkinson dz
-degeneration of dopaminergic nigrostriatal tract -> decreased dopamine and increased ACh

Tx: carbidopa/levodopa -> for bradykinesia and cogwheel rigidity
-if they also have depression: TCA
-if they also have seizures: benztropine

28

2 month old Pt presents w/
-holoprosencephaly, micropthalmia, microcephaly, clef lip/palate, polydactylyl, congenital heart disease, and severe intellectual disability

Dx
D/t
Prognosis

Patau syndrome
-trisomy 13

Prognosis: usually die before 1 year of age

M1CRoCePHaly
-mental retardation
-13 chromosome
-cardiac defect
-renal defects
-cleft lip
-polydactylyl
-holoprosencephaly

29

Where does CN III exit the cranial fossa?
-what other CN exit there?

-Superior orbital fissure: CN III, CN IV, V (opthalamic), VI

Can Obama Spray Super Soakers Right On Senators? Is It Juvenile? Just Joking, However?
-Cribriform plate: CN 1
-Optic canal: CN II
-Superior orbital fissure: CN III, CN IV, CN V (opthalamic), CN VI
-foramen Rotundum: CN V (maxillary)
-foramen Ovale: CN V (mandibular)
-Internal auditory meatus: CN VII, CN VIII
-Jugular foramen: CN IX, X, XI
-Hypoglossal canal: CN XII

30

55 y/o Pt w/intellectual disability dies from congenital heart disease. PE shows flat nasal bridge, macroglossia, holosystolic murmur at apex.
-brain biopsy shows senile plaques and neurofibrillary tangles in cerebral cortex and hippocampus

Changes are most likely caused by presence of on extra copy of what gene encoding what ptn?

Chromosome 21 encoding amyloid precursor ptn

**down syndrome pts that live past 40 have and increased risk of developing alzheimers

31

Pt presents w/
-b/l decreased pain and temp across shoulders, arms, and upper torso
-atrophy of hand muscles and decreased reflexes
-light touch, vibration and position fo preserved

Dx?
D/t

Syringomyelia
-d/t: arnold chiaria malformation, tumor, trauma, or vascular malformations

-b/l decreased pain = interruption of anterior white commissure
-inhibit ventral horn = LMN
-inhibit CST -> UMN

32

Pt presents w/
-loss of position and vibration in LE
-wide based gait, ms atrophy, and decreased reflexes

Can be d/t deficiency of _______ in diet
D/t

Vitamin B12 deficiency -> demyelination of white matter of upper thoracic spinal cord

33

Female presents w/
-cognitive changes
-paresthesia, poor coordination
-hyperreflexia, spasticity,
-diplopia, optic neuritis
-autonomic dysfunction
-labs show increased antibodies to schwann cells

-dx
-what would you see on brain MRI

MS

MRI: hyperintense demyelinating plaques in white matter

34

Innervation to
-submandibular
-lacrimal
-sublingual
-parotid

CN VII: submandibular, lacrimal, sublingual

CN IX: parotid

35

Pt w/ MS gets an MRI and it shows
-dense lymphohistiocytic infiltration
-hyperplasia and atrophy of astrocytes

Which one describes and acute plaque and which one a chronic?

Acute = lymphohistiocytic

Chronic: hyperplasia of astrocytes (Gliosis)

**never leads to complete loss of axons

36

Difference between lewy body dz and alzheimer

Both: show dementia

Lewy body also has involvement of
-substantia nigra -> extrapyramidal symptoms (ex. Parkinsonian motor features)
-visual hallucinations

37

Defect in what nerve leads to
-loss of sensation to upper pharynx, eustachian tube, middle ear, posterior 1/3 of tongue
-carotid sinus baro/chemoreceptors
-taste of posterior 1/3 of tongue
-parotid gland innervation

CN IX

38

Pt w/ history of uncontrolled HTN presents w/ right-sided hemiplegia
-no loss of sensation
-can wrinkle forehead on both sides

Most likely cause?
Prognosis

Charcot Bouchard aneurysm in lenticulostriate arteries that supply the left internal capsule and basal ganglia
-UMN lesion -> lower facial paralysis

Intracerebral hemorrhage -> uncal herniation -> tonsillar herniation -> death

39

What is a common complication of general anesthesia that leads to acute changes in mental status w waxing and wanning levels of consciousness, agitation, irritability, and psychosis?

Tx
What drugs should be avoided?

Delirium
-tx: neuroleptics

**avoid benzodiazepines -> worsen condition

40

Schizophreniform vs schizophrenia

Phreniform: symptoms 1-6 months

Phrenia: symptoms >6 months

41

35 year old male is brought in by his wife because of
-progressive memory loss, mood changes and errors in judgement
-PE shows hypertonicity of all extremities, ataxic gait, and myoclonic jerks
-no history of seizures, head trauma or incontinence
-CT and MRI show no abnormalities

Dx
Infectious agents
EEG findings
Lumbar puncture findings

Dx: creutzfeldt-Jakob disease

Infectious agent: prions -> converted to abnml beta-pleated sheets -> accumulate in extracellular space of neurons
-d/t corneal transplants, dural transplants, beef ingestion

EEG: triphasic spikes
Lumbar puncture: 14-3-3 ptn
MRI/ST may show spongiform changes (“Swiss cheese appearance)
-none of this are always present

42

52 year old man walks into the ER
-smells of wine and looks malnourished
-PE shows orientation only to self and troubles walking
-ocular exam shows horizontal nystagmus on lateral gaze, lateral rectus palsy

Dx
Deficiency of what vitamin caused this
Who else is at risk for this
What area of the brain is affected

Dx: wernicke encephalopathy
-triad: encephalopathy, oculomotor dysfunction, gait ataxia

Deficiency of thiamine (vit B1) = must be administered prior to glucose

Can also occur in: anorexic, hyperemesis of pregnancy, malignancy, AIDS

Damages mamillary bodies
**associated w/ confabulation: unconsciously makes up explanations for events that did not occur (is in the setting of memory loss: does not know that he is lying)

43

7 year old boy is brought in because of his poor performance at school, however he does not have any behavioral problems
-teacher things he has trouble paying attention
-testing shows nml IQ but finds him staring into space and requiring questions to be repeated

Dx
Tx

Absence (petit mal) seizures
-timing: 5-7 years old

Tx: ethosuximide and valproic acid

44

Occlusion of each of these vessels would lead to ?
-left posterior cerebral artery (PCA)
-anterior communicating artery (ACA)
-internal carotid artery
-opthalamic artery
-posterior communicating artery

-PCA: right homonymous hemianopsia
-ACA: bitemporal hemianopsia (located in optic chiasm)
-ICA: binasal hemianopsia
-opthalamic artery: anopia (perfuses the optic nerve)
-post communicating artery: CN II palsy (overlies this nerve)

45

Damage to
-corticospinal tract
-ventral horn of spinal cord
-caudate nucleus
-cerebellum
-globus pallidus
-substantia nigra

Leads to what neurodegenerative diseases?

-corticospinal tract and ventral horn = ALS
-caudate nucleus = Huntington disease
-cerebellum = Friederich ataxia
-globus pallidus (w/in basal ganglai) and substantia nigra = parkinson dz

46

Lesion to this nerve causes diplopia on horizontal gaze

CN III -> cannot adduct the affected

4 basic functions
-constricts pupil
-accommodates
-innervates EOM
-raises eyelid (levator palpebrae)

47

What nerves arise from the cerebellopontine angle
-what structures form the cerebellopontine angle
-MC tumor in this area

Cerebellopontine angle = triangular area fromed by cerebellum, upper medulla, and middle cerebellar peduncle

CN VII and CN VIII exit here
-MC affected by acoustic schwannomas

48

What type of hypersensitivity rxn is multiple sclerosis

Type 4: initiated by CD4 Th1 lymphocytes against self myelin Ag -> secrete INF-gamma to active macrophages -> demyelination

**s/s: relapsing and remitting neurologic symptoms

49

Pt reports double vision that is worse when looking to either right or left
-however when she closes one eye, her vision returns to nml
-MRI shows demyelinating lesions of the brain stem
-she does report that she randomly has tingling in her arm, but it always goes away

Dx
cause

INternuclear ophthalmoplegia in MS pt
-caused by damage to medial longitudinal fascicules (MLF): links the CN VI with CN III during lateral gaze
*when looking right: Right eye can abduct but left eye cannot adduct with it


**if both eyes could not look right = lesion to right abducens nucleus (before it innervates CN III)
-abducens nucleus -> CN VI and MLF -> CN III nucleus -> CN III

50

Seizure assoc w/ sudden loss of postural ms tone that last only a few seconds
-consciousness may be briefly impaired
-nml starts occurring in childhood

Dx
Difference from grand-mal seizure

Atonic seizure

Doesn’t have post-ictal confusion like grand-mal seizures (aka tonic-clonic seizures)

51

Seizure assoc w/ blank stares, short loss of consciousness
-no post-ictal confusion
-no loss of muscular tone
-typically occur in childhood
-may be precipitated by hyperventilation

Absence seizures

52

Seizures assoc w/ sudden, brief ms jerks that may involve part or the whole body

Vs

Seizures associated w/ sudden onset of sustained axial and limb ms contraction

First: myoclonic

Second: tonic

53

Pt comes in w/ HA and difficulty looking up
-ocular exam shows that the pupils accommodate but do not react to light
-MRI shows a brain tumor

Dx
What structure is it compressing

Dx: Parinaud syndrome -> pineal tumor

Compressing superior colliculi = contains vertical gaze center

54

-pt only shaves right side of face
-has trouble getting dressed in the morning
-tingling in left hand

Dx
What structure is damaged

Hemineglect syndrome

Damage to right parietal or frontal cortex

55

What exits above the piriformis ms in the greater sciatic foramen ?
-damage to this will lead to what physical finding

Above piriformis
-superior gluteal n, a, v = innervates glute medius and minimus -> lose hip abduction

Below piriformis
-inferior gluteal nerve = glute max -> hip extension and lateral rotation
-pudendal nerve = sensory/motor to perineum
-sciatic nerve: post compartment of thigh, leg, plantar foot

56

5 year old presents w/
-n/v, increased intracranial pressure
-MRI shows lesion in the cerebellum
-biopsy displays rosenthal fibers (eosinophilic intracellular inclusions w/ a twisted appearance

Dx

Pilocytic astrocytomas

57

7 y/o presents with a tumor located in the fourth ventricle
-papillary masses w/ perivascular rossettes

Dx

Ependymomas
-can arise in the spinal cord

**pathognomionic of tuberous sclerosis

58

Pt presents with vision problems, ocular exam demonstrates the following:
-1) loss of central visual fields w/ peripheral fields intact
-2) progressive loss of peripheral fields w/ central field intact
-3) pt complaining of multiple new “floaters”
-4) pt complains of sudden, ul painless visual loss

Dx for each

1) macular degeneration
2) open angle glaucoma
3) retinal detachment
4) central retinal artery occlusion

59

Pt presents w/
-1) fluent speech but cannot comprehend or repeat
-2) cannot fluently speak or repeat words, but can comprehend words
-3) can fluently speak and understand words but cannot repeat words

-dx and location of lesion

1) Wernicke -> superior temporal gyrus
2) Broca -> inferior frontal gyrus
3) conduction aphasias -> arcuate fasciculus

60

-subependymal nodules and giant cell astrocytomas
-multiple hamartomas: skin, CNS, visceral organs
-cardiac rhabdomyomas
-renal angiomyolipomas
-skin: shagreen patches and ash-leaf (hypopigmented) spots

Dx
Mutation in what gene
What s/s would you expect

Tuberous sclerosis
-AD mutation in TSCI or TSC2
- s/s: seizures and intellectual disability

61

-Renal cell carcinomas
-pheochromocytomas
-hemangioblastoma of the cerebellum, spinal cord, and retina

Dx
Mutation in what gene

Von Hippel lindau

AD mutation in VHL gene on chromosome 3

62

Smell pathway:
-olfactory nerve —(cribiform plate)—>olfactory bulb -> _______

Piriform cortex/ primary olfactory cortex/ uncus

**seizures that originate here present with auras consisting of disagreeable odors

63

Where are these sensations processed in the brain?
-taste
-smell
-motor
-sensory

Taste: insula

Smell: piriform cortex

Motor: precentral cortex

Sensory: postcentral cortex

64

Pt w/ severe optic neuritis in her right eye has a history of leg and arm weakness/tingling that has comes and goes.
-what would you expect to happen if you shined a light into her right eye?
-what would you expect to happen if you shined a light into her left eye?

This pt has MS, which commonly presents with optic neuritis
-recall that MS is due to autoimmune destruction oligodendrocytes -> CN II is the only CN myelinated by oligodendrocytes and thus would be the only one affected by MS

Pupillary light reflex: afferent (CN II) and efferent (CN III)
-CN II is involved in constriction of ipsilateral (direct light reflex) and contralateral eye (consensual light reflex)

Thus if you shined a light into her R eye: neither her R or L eye would constrict

If you shined a light into her L eye: both her R and L eye would constrict like nml

65

Chiari I vs Chiari II
-age of diagnosis
-severity of dz
-assoc w/ Meningomyelocele, hydrocephalus, and syringomyelia

Chiari I
-diagnosed in adults/adolescence -> less severe
-no meningomyelocele or hydrocephalus
-syringomyelia less common

Chiari II
-diagnosed in infants -> more severe
-assoc w/ meningomyelocele, hydrocephalus and syringomyelia (all are very common)

66

-nml occurs in pts w/ CHF, liver failure, kidney failure, diuretics
-s/s: rapidly evolving spastic para or quadriparesis w/ pseudobulbar symptoms (dysarthria or dysphagia) after administration of IV fluids
-can experience “locked in syndrome”

Dx
Cause

Central pontine myelinolysis (aka osmotic demyelination syndrome)
-demyelination of the central pons following overly rapid correction of severe hyponatremia

67

What embryological element forms the
-dorsal part of the spinal cord -> sensory portion
-ventral part of the spinal cord -> motor portion

Alar plate: dorsal part

Basal plate: ventral part

*neural tube -> spinal cord (divided into alar and basal plate)

68

For a lumbar puncture (L4-5)
-skin -> fascia -> supraspinous ligament -> __________ -> interspinous ligament -> interlaminar space -> ___________ -> dura -> arachnoid -> subarachnoid space (where CSF is)

1) interspinous ligament
2) epidural space

69

7 year old boy presents w/ progressively worsening uncoordinated arm and leg movement w/ slurred speech
-nml bulk and tone but strength is decreased in Upper and Lower extremities
-absent reflexes in all 4 limbs
-has high arched feet and kyphoscoliosis
-vibration and position sense are impaired

Dx
Mode of inheritance and gene affected
Cause

Friedreich ataxia

AR: frataxin gene (chromosome 9)-> GAA trinucleotide expansion

Demyelination of peripheral nerves, dorsal columns, corticospinal tracts, spinocerebellar tracts

70

Pt presents w/
-mental retardation
-large ears and jaw
-men: post-pubertal macro-orchidism
-females: ADHD

Dx
Mutation

Fragile X syndrome

X linked dominant: CGG repeat

71

Pt presents w/
-movement abnml
-emotional distrubance
-cognitive impairment

Dx
Mutation
Prognosis

Huntington dz

AD: CAG repeat

Death in 10-15 years after onset

72

What four areas of the brain are associed w/ the Papez Circuit?
-which one is the most earliest and most severely affected in alzheimer dz

1)hippocampus: most affected
2) mamillary body
3) thalamus
4) cingulate gyrus

73

4 year old boy presents w/ HA, n/v,and poor peripheral vision
-MRI: solid and cystic mass w/ focal calcifications
-mass is filled with dark oily fluid

Dx
What embrologic element did it arise from

Craniopharyngioma

Remnants of rathkes pouch : nml forms the pituitary
-composed of cells that produce tooth enamels

74

Pt gets a central ine catheter placed into R internal jugular vein but it si inadvertently pierced during the procedure and damages the structure located posterior to carotid sheath

-what would you see on PE d/t this

R sympathetic trunk lies posterior to carotid sheath -> these fibers synapse in superior cervical ganglion -> innervates dilator papillae ms -> constriction fo pupil (miosis)

75

7 year old child presents w/ n/v and difficulty walking
-PE: wide-based ataxic gait
-CT: mass in cerebellar vermis
-biopsy: rosette formation

Dx
What cell types are evident in the tumor

Medulloblastoma

-cell types: neuronal and glial differentiation
*primitive neuroectodermal tumor

-predominantly pediatric and arise in cerebellar vermis
-may stain positive for GFAP: stain for glial cells

76

Atrophy of caudate nucleus in Huntington dz cause an increased _________ on CT

Lateral ventricle -> caudate nucleus is located right below it, so when it atrophies, they appear larger than nml

77

What nerves passes through each of the following structures
-pronator teres
-Coracobrachialis
-Flexor carpi ulnaris
-Supinator

-median n
-musculocutaneous
-ulnar
-radial

78

Pt presents w/ problems speaking. Each word takes him awhile to say and becomes easily frustrated when he cannot get the words out.
-He comprehends what others are saying just fine

Dx
What other s/s would you expect to discover on your PE

Brocas aphasia

-location: frontal lobe -> associated w/ right hemiparesis affecting the face and arm (d/t UMN damage) and dysarthria

79

What structure in ms actively initiates the reflex arc ?

-spindle afferents

*ex. Tap patellar tendon -> stretches quadriceps ms -> activates spindle afferents -> dorsal root -> ventral horn -> s synapse w/ alpha motor neurons -> contraction

80

Where does the CST decussate?

Medulla

81

Sensorineural hearing loss (d/t loud sounds or otoxic dugs) damages with component of the auditory apparatus?

Presbycusis (age related hearing loss) is due to damage of what component of the auditory apparatus
-leads to what type of hearing loss

Both are due to damage of hair cells on organ of Corti

Presbycusis: high-frequency hearing loss

82

Pt presention is between 55-60
-can present w/ progressive changes in behavior and personality -> leads to cognitive impairments
OR
-can present w/ speech and language abnml

Biopsy: cytoplasmic inclusion bodies
CT: cerebral atrophy

Dx
Where is the atrophy located

Pick dz
Fronto-temporal atrophy

83

20 year old pt presents w/ sudden onset of severe HA, n/v, and neck stiffness
-PMH: recurrent epistaxis during childhood, episodic seizures, melena, and iron deficiency anemia
-PE: multiple red lesions on pts face and palate
-labs: increased HCT

Dx
Mode of inheritance
What complication is causing pts current symptoms

Hereditary hemorrhagic telangiectasia (HHT): aka osler weber rendu syndrome
-theses pts develop large AVM in brain, lungs and liver -> Seizures, secondary polycythemia and subarachnoid hemorrhage

AD

Pts has subarachnoid hemorrhage

84

Pt presents in 20-40
-s/s: choreoathetosis (involuntary, jerky movements), dementia, personality changes -> eventually develop difficulty ambulatin, dressing, and eating
-CT shows caudate nuclei degeneration and hydrocephalus ex vacuo

Dx
Mode of inheritance
Defect

Huntington dz
AD
CAG trinucleotide repeat
*shows anticipation

85

-multiple lumps/ nodules just below skin surface
-small pigmented nodules on surface of iris
-numerous tan patches on skin

Dx
Mode of inheritance

Neurofibromatosis type 1
-neural tumors
-cafe au lait spots
-lisch nodules

*CAFE-SPOT
- cafe au lait spots
- axiallary freckling
- eye lesions: lisch nodules
- scoliosis
- pheochromocytoma
- optic tumors (gliomas)

Autosomal dominant -> nf1 on chromosome 17

86

2 year old boy presents w/
- tumor: small round cells and ganglion cells in fibrillary pink matrix
- tumor is located in adrenal medulla and nml crosses midline (unlike Wilms)
- he can walk but is clumsy
- non - rythmic conjugate eye movements
- ataxic gait and LE muscle hypotonia

Dx
Genetic mutation
What would you expect to be elevated in serum/urine

Opsoclonus-myoclonus syndrome w/ neuroblastoma

Mutation: MYCN gene amplification

Increased urine/serum homovanillic acid (dopamine byproduct)

87

Pt presents w/
- left sided motor hemiplegia
- lower facial paralysis (spares forehead and sensation is intact)

Where is the lesion

Body + facial paralysis -> brain (must be contralateral)

MC location: right lacunar infarct in internal capsule
- risk factors: HTN, diabetes

**UMN: forehead is spared

88

- b/l acoustic neuromas
- meningioma
- juvenilae cataracts

Dx
mode of inheritance

Neurofibromatosis type II
- AD mutation in NF2 -> chromosome 22

89

- nevus flammeus
- leptomeningeal vascular malforamtion
- cortical calcifications
- glaucoma
- seizures

DX
Mode of inheritance

Sturge-weber dz
*port-wine stain: over V1/V2

Sporadic

90

3 year old girl is brought in bc of delayed motor and mental development
- painless, palpable abd mass that does not cross the midline
- HTN

Dx
What syndrome is is assoc w/ and what s/s would you expect to see?

Wilms tumor

WAGR syndrome -> deletion in WTI
- wilms tumor
- aniridia
- genitourinary malformation
-mental retardation

91

Subfalcine herniation causes damage to?

Cingulate gyrus