Neuro Flashcards
(91 cards)
1
Q
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?
A
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
Q
What layer of the eye shows white opacifications in cataracts?
A
Lens
3
Q
Anterograde vs retrograde transport of axons
- which uses dynein vs kinesin
- which one is used during latency vs reactivation?
A
Anterograde -> kinesin
-used during latency
Retrograde -> dyenin
-used during reactivation
**herpesvirus, poliovirus, rabies virus, tetanus use this
4
Q
CN used in corneal reflex
A
Afferent: CN V
Efferent: CN VII
5
Q
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?
A
Subacute sclerosing panencephalitis (SSPE)
Infection: measles
-nml infected by age 2 but takes about 6 years for symptoms to develop
6
Q
What nerve innervates the muscles of the tongue (except pataloglossus)?
What happens to the tongue when this nerve is cut?
A
CN XII
-protrusion of the tongue causes it to point to the weak side (“Like your wounds”
7
Q
What carriers tactile, proprioception, and vibratory information to
- ipsilateral UE
- ipsilateral LE
A
UE: cuneatus (lateral portion of dorsal columns)
LE: gracilius (medial portion of dorsal columns)
8
Q
What carries
- UMN
- LMN
A
UMN: corticospinal tract
LMN: lateral corticospinal tract
9
Q
What information is carried in
- dorsal horn
- ventral horn
- lateral horn
A
Dorsal: sensory
Ventral: motor (LMN)
Lateral: preganglionic sympathetic (horners syndrome)
10
Q
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
A
Intracranial meningioma
Histology: whorls of cells (Psammoma bodies)
Tx: surgical resection
11
Q
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
A
Glioblastoma multiforme
-MRI: ring-enhancing lesions/necrosis
Children: brainstem
Adults: cerebral cortex (corpus callosum -> butterfly glioma)
12
Q
Glial tumor that causes leg weakness
- see round, central nuclei w/ clear surrounding cytoplasm
- MC in cerebral hemispheres
Dx?
MC age?
A
Dx: oligodendrogliomas
- describing the “fried egg” appearance
- MC in middle aged pts
**meningioma also causes leg weakness but shows psammoma bodies
13
Q
Which part of the brain is in charge of memory formation?
A
Hippocampus
14
Q
Brainstem lesion to
- midbrain
- upper pons
- lower pons
- medulla
Will affect which cranial nerves?
A
Midbrain: CN 3 and 4
Upper pons: CN 5
Lower pons: CN 6, 7, 8
Medulla: CN 9-12
15
Q
Lesion to what nerve causes the tongue to deviate to the right upon protrusion?
A
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
Q
Pt has nml perception but perception is devoid of meaning
A
Agnosia
17
Q
The inability to recognize faces
- define
- MC d/t
A
Prosopagnosia
-infarcts of PCA
18
Q
Impairment of reading
- define
- nml d/t
A
Alexia
Infarct of occipital cortex by occlusion of PCA
19
Q
Impairement of writing
A
Agraphia
20
Q
Lack of knowledge about ones own body
-denies that half of their body belongs to them
A
Asomatognosia
21
Q
Pt has alexia, agraphia, acalculia (cannot perform math), finger agnosia, and right-left disorientation
- dx
- d/t
A
Gerstmann syndrome
-d/t lesion of angular gyrus
22
Q
Inability to carry out an action after receiving a verbal command
-can imitate hand gestures but can’t do it when they are asked
A
Ideomotor apraxia
23
Q
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
A
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
Q
- “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?
A
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
