Neurological diseases Flashcards
(100 cards)
1
Q
delirium
definition
A
acute, confused state that usually occurs in response to a trigger
Typical triggers: alcohol &/or drug intoxication, withdrawal, medication side effect, infection (example: elderly with UTI), electrolyte abnormality, high or low glucose, other metabolic problems, sleep deprivation, neurological disorders (example: seizure, stroke), hypoxemia
Different than dementia BUT dementia patients can have delirium
Think elderly with UTI*
2
Q
Delerium
S/Sx
A
Acute, rapid onset
Confusion
Fluctuates between awake, drowsy, agitation
Patient also often has anxiety and irritability, visual hallucinations, restlessness/ insomnia
Poor short-term memory
3
Q
delirium
Dx and Tx
A
Dx:
Nothing specific; just need to find cause (start with labs to look for electrolyte problems, metabolic issues, intoxication, etc.)
Treatment
Fix the cause after you find it, delirium will improve
4
Q
Delerium
sundowning
A
Sundowning is a type of delirium at night associated with preexisting dementia; usually mild to moderate; often associated with recent hospital stay or change in medication
Pearl
5
Q
Wernicke Encephalopathy
General
A
Thiamine deficiency (The biologically active form of** vitamin B1)**
In the US, typically due to alcoholism
May also be caused by dialysis, AIDS, hyperemesis gravidarum, anorexia, and bariatric surgery (malabsorption issues or lack of nutrition)
6
Q
Wernicke Encephalopathy
S/Sx
A
Confusion
Ataxia (uncoordinated movement with gait, speech and eyes)
Tingling in fingers and toes
7
Q
wernicke encephelopathy
PE
A
Confusion
Ataxia
Nystagmus
Ophthalmoplegia (conjugate gaze palsy- meaning eyes cannot move together in the same direction because of muscle weakness/ paralysis)
Peripheral neuropathy
8
Q
Wernicke encephelopathy
Dx
A
Thiamin diphosphate
Must use whole blood, minimal found in plasma/ serum
Some labs will call it TDP, TPP, thiamine, vit B1, liquid chrom/mass spec thiamine
9
Q
Wernicke Encephelopathy
Tx
A
- Give thiamine
- Treat with 200-500 mg of thiamine hydrochloride (dissolved in 100 ml of normal saline) infused intravenously over 30 min three times daily for 2 to 3 days.
- DO NOT give IV glucose given BEFORE thiamine can make the symptoms WORSE (thiamine is important in intracellular glucose metabolism, SO giving glucose can deplete what is left of patient’s thiamine if it is already low)
- GIVE THIAMINE FIRST
10
Q
Wernicke encephalopathy
Pearls
A
Sometimes the lab takes a long time to come back, so don’t wait for treatment if suspect diagnosis and other things have been ruled out (blood glucose issues, hypoxia,…)
Diagnosis is confirmed by improvement in signs and symptoms after giving thiamine
Eye movement issues are typically related to CN VI palsy
11
Q
Korsakoff syndrome
A
- Severe Wernicke encephalopathy for extended period of time
- WE= acute, KS= chronic
- Anterograde and retrograde amnesia; confabulation (honest lying, creating incorrect memory)
- Delirium
- Treat thiamine like you would with Wernicke, but some issues are permanent; often require long-term care type of setting
12
Q
anteroretrograde amnesia
A
Decreased ability to create new memories or retain new information following the onset of amnesia.
13
Q
confabulation
A
Generation of a false memory without the intention of deceit.
honest lying.
14
Q
Dementia
general
A
Chronic deterioration of mental functions
“Progressive intellectual decline”
Age is main risk factor, then family history and vascular disease
Typically starts after age 60 and prevalence increases with age (37+% by age 90 in one study and 50% by mid-80s in another)
New concerns it is related to high glucose
15
Q
dementia
types
A
Main types of dementia
#1- Alzheimer
#2- Vascular
#3- Dementia with Lewy bodies
#4- Frontotemporal
16
Q
Dementia
modifiable risk factors
A
1/3 of cases might be linked to modifiable risk factors: less education, midlife hypertension, midlife obesity, hearing loss, late-life depression, diabetes, physical inactivity, SMOKING, social isolation
Associated with dementia but not definite causes: a fib, alcoholism, chronic kidney disease (CKD), traumatic brain injury, obstructive sleep apnea, air pollution, gait impairment
17
Q
Dementia
possible first alert to disease
A
Functional impairment may be the first alert or warning sign (difficulties in planning meals, managing finances, managing medications, using a telephone, and driving without getting lost)
18
Q
dementia
*Usually, a gradual and progressive cognitive decline; difficulty in one or more of the following six cognitive domains:
A
- Complex attention: Staying focused, especially when there are multiple distractions and parallel tasks
- Executive function: Reasoning and planning (difficulty in managing complex tasks such as planning an event, planning a meal, using tools, driving a car)
- Learning and memory: Retaining new information (trouble remembering and recalling events)
- Language: Word finding, comprehension, etc.
- Perceptual-motor function including spatial ability and orientation (getting lost in familiar places) & ability to recognize objects and manipulate them
- Social cognition or behavior: Maintaining appropriate behavior based on social norms; recognizing social cues; making proper decisions based on safety (behavior out of normal social range, making decisions without regard to safety, inability to recognize social cues, decreased inhibition, decreased empathy, increased introversion or extroversion, inappropriate clothing for weather or social setting, etc.)
19
Q
Dementia
Hx and PE
A
History and Physical Exam
Get good family history (family members with dementia, family members with vascular dz, HTN, etc)
Get a good social history (smoking, diet, exercise, living situation, alcohol, etc)
Obviously get a good patient medical history (depression/psych, HTN, vascular dz, etc)
Discuss ability to perform ADLs and make sure there is a family member you can talk to (patient might think things are going well or can’t remember that they left the stove on 3 days ago)
Ask about physical impairments (new onset balance issues, gait problems, vision problems, incontinence, sleep pattern, etc)
Perform mental status exam
Perform memory testing
20
Q
Alzheimer
Warning signs
A
1.Memory loss that disrupts daily life
2.Challenges in planning or solving problems
3.Difficulty completing familiar tasks
4.Confusion with time or place
5.Trouble understanding visual images and spatial relationships
6.New problems with words in speaking or writing
7.Misplacing things and losing the ability to retrace steps
8.Decreased or poor judgment
9.Withdrawal from work or social activities
10.Changes in mood and personality
21
Q
alzheimers
Alarm signs that reflect a severe stage of dementia and possible need of 24-hr assistance, support, or supervision:
A
1.Inability to perform personal self-care
2.Impaired judgment with potential harm to self or others
3.Concerns about personal safety or ability to seek help in unsafe situations
22
Q
Alzheimer
Dx
What do you see?
A
Must rule out all other causes (low glucose, stroke, etc); get CBC, electrolytes, TSH, vitB12
Brain MRI
MRI findings in Alzheimer disease include generalized and focal atrophy, and white matter lesions. The most characteristic findings are reduced hippocampal volume and medial temporal lobe atrophy
23
Q
Dementia
Tx goals and Non pharm
A
Goals: slow the progression, reduce mortality, improve quality of life for patient and family
Exercise twice weekly helps with cognition, balance, and overall health
Counsel patient on long-term planning regarding advance directives, driving safety, finances, and estate planning
24
Q
Alzheimers
Tx for mild-mod Dz
A
- A cholinesterase inhibitor is recommended; they have been recently shown to slow cognitive decline and improve mortality risk
- Galantamine has been shown to be superior to both rivastigmine and donepezil (in that descending order)
- Treat other issues as needed (hearing loss, vision issues, depression, sleep problems); use caution with meds
- Encourage socialization, puzzles/ brain-engaging activities
25
# alzheimers
Tx
mod to severe dz
For moderate to severe dz
**Cholinesterase inhibitors** may be effective in patients with moderate to severe Alzheimer disease
**Memantine** is usually added to cholinesterase inhibitors after patient has progressed to the moderate to severe dementia stage; has a small additional benefit on cognition
For advanced dz
Comfort measures
26
# Dementia - vascular
General
Cause: multifocal ischemic changes (stroke)
3 main causes: large artery atherosclerosis, cardioembolic event, small vessel dz
Stepwise/ progressive cognitive deficits with each stroke
Often co-occurs with Alzheimer dz
27
# Dementia vascular
S/Sx/PE
Physical signs of a stroke
Gait disturbance/ balance issues
Urinary frequency, urgency, incontinence (not explained by urological issues)
Personality and mood changes, most commonly depression, followed by psychosis (delusions, hallucinations, etc)
28
# vascular dementia
imaging Dx
MRI or CT will show evidence of cerebrovascular disease
29
# vascular dementia
Tx
Difficult and often not very successful
**Cholinesterase inhibitors and N-methyl-d-aspartate (NMDA) antagonists** have only limited evidence for use, although some of this may represent underrecognition of mixed dementia in AD trials
Prevention is key (manage HTN, hyperlipidemia, etc)
30
# Dementia
Lewy Bodies
Cause: Same as Parkinson dz
Lewy bodies in brainstem, midbrain, olfactory bulb, and neocortex
Can coexist with Alzheimer
Cognitive dysfunction, visuospatial & executive deficits (disrupts a person's ability to manage their own thoughts, emotions and actions)
Psychiatric disturbance, hallucinations (visual), occasional delirium
Tx like parkinsons
31
# Frontotemporal (FTD) Dementia
general
Abnormal proteins found in the brain are most likely the cause, exact pathophysiology is unknown, sometimes linked to family/ gene mutations
Somewhat uncommon compared to other types
32
# FTD
behavioral issues
Right frontal atrophy
Behavioral issues: lack of empathy, social norms, abstract thought and executive fxn; very impulsive and apathetic; okay memory; focal right frontal atrophy
33
# FTD
Semantic variant
Temporal pole atrophy
Semantic variant primary progressive aphasia: can’t find words, doesn’t recognize faces, object and category knowledge loss; similar behavioral issues as above; asymmetrical temporal pole atrophy
34
# FTD
non fluent variant
Nonfluent variant primary progressive aphasia: poor grammar, difficulty with the act of speaking (sound distortion, poor jaw movement); abnormal movement (loss of learned motor skills) with right arm and leg; left front atrophy
35
# dementia
don't forget!
Pseudodementia can happen with severely depressed people, memory loss and confusion, but improves with treating depression
Be careful with elderly people and depression; they might be depressed because of memory problems rather than having memory problems related to depression (you have to find out which came first, chicken/egg)
Do not do memory drills- causes frustration and does not help regain lost skills
Use trazodone for sleep- NOT antihistamines or benzos- can cause delirium
36
# Creutzfeldt- Jakob Disease
Dementia
general
Rapidly progressing dementia and movement disorder
Rare, incurable, caused by misfolded proteins, genetic; sometimes random, sometimes familial/inherited, sometimes acquired or infectious
Definitive diagnosis is usually post-mortem and requires brain biopsy, but you can see cortical ribboning pattern on MRI and sharp wave complexes on EEG to help with clinical diagnosis
Treatment is symptomatic; no cure
Due to potential transmission, exposure to bodily fluids and brain matter from infected patients should be avoided (also should avoid eating cow and pig brain- “Mad Cow dz”)
37
# cerebral edema
general
Fluid builds in the brain and increases intracranial pressure
categorizes into either vasogenic, cellular, osmotic, and interstitial causes
38
# cerebral edema
Causes
variety of more common causes: head trauma, hepatitis/ liver disease, vascular ischemia, intracranial lesions, obstructive hydrocephalus, hypoxia, infection, metabolic derangements, acute hypertension
Other less common causes: Reye syndrome, carbon monoxide poisoning, lead poisoning, and high-altitude cerebral edema (HACE). A rare cause of cerebral edema is pseudotumor cerebri.
39
# cerebral edema
S/Sx
vary widely depending on the location and extent of the cerebral edema
Focal edema: weakness, visual disturbances, seizures, sensory changes, diplopia, and other neurologic disturbances
Diffuse edema: headaches, nausea, vomiting, seizure, lethargy, altered mental status, confusion, coma
40
# cerebral edema
PE
* Varies depending on severity and local vs diffuse
* Severe: altered mental status and development of fixed and dilated pupil
* Some patients may appear agitated and others lethargic.
* Delusions (fixed false beliefs) and hallucinations are common.
* Asterixis (negative myoclonus) is common.
* Other physical findings, such as fever, ascites, jaundice, or tachycardia, may vary depending on the underlying cause of encephalopathy.
41
# Cerebral edema
Dx
ICP monitor if increased intracranial pressure is a concern
General labs to rule out metabolic cause, infection, etc
Head CT to rule out intracranial hemorrhage, hydrocephalus, tumors
Brain MRI for suspected encephalitis, tumors, acute strokes, or acute autoimmune processes
42
# cerebral edema
Tx for vasogenic edema
Two-fold:
First- prevent further injury from existing cerebral edema
Second- fix the thing causing the edema
Overall treatment to prevent further injury: **glucocorticoids for vasogenic edema but NOT for trauma**; reduce ICP with positioning, hyperosmolar therapy, sedatives, paralytics, potentially surgery; **mannitol for middle cerebral artery stroke**; sometimes hypertonic saline helps; induced hypothermia for several days to reduce cerebral metabolism (not too long though bc of complications)
43
# brain herniation
general
Basically, if there is high pressure in one cranial compartment, brain tissue may be pushed (or “herniate”) into a compartment with lower pressure
Most common is herniation of temporal lobe which causes compression of 3rd cranial nerve, midbrain and posterior cerebral artery- causes ipsilateral pupillary dilation, then stupor, coma, posturing and respiratory arrest
Can also happen with displacement of cerebellar tonsils (not the throat tonsils) through foramen magnum causing medullary compression apnea, circulatory collapse and then death
44
# Stupor and coma
definitions
Stupor- patient is unresponsive except when subjected to VIGOROUS stimuli
Coma- patient unarousable and unable to respond to external events or internal needs; reflex movements and posturing MIGHT still be present
45
# Stupor and coma
general
Coma is a complication of a serious CNS disorder
Many possible causes (seizure, hypothermia, metabolic disturbances, structural lesions to bilateral cerebral hemispheres, disturbance of brainstem reticular activating system)
46
# Stupor and coma
PE
Painful stimuli- limb withdrawal shows sensory and motor pathways are intact
Flexor posturing (AKA decorticate posturing) and extensor posturing (AKA decerebrate posturing) can help to determine location of dysfunction
Pupils- appearance varies depending on etiology; typically abnormal in one way or another
Corneal reflex- light touch (with gauze or wisp of cotton) normally causes blink reflex; absence can be unilateral or bilateral depending on etiology; may be present if etiology is not pons or trigeminal related
47
# Stupor and coma
Eye movements
Eye movement- varies depending on level of coma and site of disease
You should know two tests: oculocephalic reflex (passively moving patient’s head briskly with eyes held open and tracking the eyes- if they move correctly brainstem is okay) and oculovestibular reflex (stimulate with irrigating ear with cold water- causes different types of nystagmus with different problems)
48
# Stupor and coma
resp problems
Cheyne-Stokes respiration- periods of alternating deep breathing and apnea
Central neurogenic hyperventilation
Apneustic breathing- prominent end-inspiratory pauses
Ataxic breathing- irregular pattern of breathing with deep and shallow breaths occurring randomly
49
Cheyne-Stokes respiration-
periods of alternating deep breathing and apnea
50
# stupor and coma
Dx
Blood draw: serum glucose, electrolytes, calcium
ABG
Liver and kidney function tests/ panels
Toxicology
Urgent non-contrast CT of head
51
# Stupor and coma
Tx
Begin with supportive therapy for respiration and blood pressure
Hypothermia- warm ‘em up! Carefully
Give thiamine THEN dextrose and naloxone immediately
52
# Stupor and coma
fun facts and pearls
GET A GOOD HISTORY IF POSSIBLE- obviously not from the patient
Abrupt onset should make you think subarachnoid hemorrhage, brainstem stroke, or intracerebral hemorrhage
Slow onset: structural/ mass/ lesion/ slow bleed
53
Stupor & Coma due to structural lesions
Supratentorial lesion (diencephalon)
Progressive symptoms
Begins with drowsiness, then stupor, then coma
Subtentorial lesion (brainstem)
Early or abrupt disturbance of consciousness
If either lesion is suspected, start with CT instead of lumbar puncture to prevent cerebral herniation
54
Stupor & Coma due to metabolic disturbance
Signs of patchy, diffuse and symmetric neurologic issues not related to a problem at any specific location
Pupillary reactivity is usually preserved, pupils may be slightly smaller than normal but are still reactive
Often preceded by intoxicated state or agitated delirium
55
# Locked-in syndrome
general
Mute, quadriparetic but conscious state, patient blinks and can move eyes, intact pupillary response to light
Acute, destructive lesions (infarctions, hemorrhage, encephalitis, demyelination) that involve a specific part of the pons
Easy to confuse with comatose state but IS NOT
Patients are fully aware of their surroundings
Prognosis is poor but can recover (but very rare to have full recovery)
56
# Locked in syndrom
Causes
Causes: stroke, Guillan-Barre, cocaine, and others
57
# Brain death
criteria
Complete and irreversible cessation of all brain function
In most countries, this dx is equivalent to declaration of death
Cause of coma MUST be established, irreversible AND a known cause of brain death
“must be warm and dead before being considered dead”
Must have clean tox screen for sedative meds
Cannot have severe BP, electrolyte, acid-base or endocrine derangements
Neuro exam must demonstrate patient is in true coma, has lost all brainstem reflexes, and has no respiratory drive (apnea test)
Can perform EEG and/ or test the cerebral circulation, but neither is required
58
Intracranial and interspinal space occupying lesions
Things that take up space around the brain and spine
Primary intracranial tumors
Metastatic intracranial tumors
Intracranial mass lesions- AIDS
Spinal tumors (primary or metastatic)
Brain abscess
59
S/Sx of an expanding intracranial lesion
60
# Intracranial and interspinal space occupying lesions
Primary intracranial tumors
Start in the brain
Can be malignant or benign
1/3 are meningiomas, 1/4 are gliomas
Often increase ICP
Usually seen on imaging (CT, MRI)
Will eventually cause disturbance of brain function when large enough
Lumbar puncture is rarely needed and can actually cause more harm if performed
Treatment varies depending on type of mass, location, symptoms
Always refer to neurosurgeon &/or neurologist
61
# Intracranial and interspinal space occupying lesions
Frontal
intellectual decline, personality changes, sometimes lose sense of smell, can also cause seizures
62
# Intracranial and interspinal space occupying lesions
Temporal-
**seizures, sensation** (auditory, visual, taste and smell) hallucinations, smacking lips without realizing it, personality changes, feeling of déjà vu; interesting one- right sided issue disturbs perception of musical notes or melodies
63
# Intracranial and interspinal space occupying lesions
Parietal
- disturbance of sensation contralaterally, seizure, sensory loss (shape, size, weight, texture), inattention, spontaneous pain; interesting one- can have anosognosia which is the neglect or denial of paralyzed limb
64
# Intracranial and interspinal space occupying lesions
Occipital
hallucinations, blindness if bilateral with preservation of pupillary reflex to light
65
# Intracranial and interspinal space occupying lesions
Brainstem and cerebellum-
cranial nerve palsies, incoordination and ataxia, nystagmus
66
# Intracranial and interspinal space occupying lesions
Cerebral metastases
| metastatic intracranial tumors
Present the same as primary tumors
Most common source is lung cancer
Other common sites are breast, kidney, skin (melanoma), and GI
Same labs and studies as primary lesions/tumors but then add a search for the primary site (chest x-ray, mammogram, etc.)
Treatment varies on type and number of metastases; if only one- usually surgery and radiation, but some types will “seed” with surgery
67
# Intracranial and interspinal space occupying lesions
Leptomeningeal metastases (carcinomatous meningitis)
| metastatic intracranial tumors
Most common primary sites are breast, lung, lymphoma, and leukemia
Cause multifocal neurological deficits (because of infiltration of cranial and upper spinal nerve roots)
THIS is what you get lumbar puncture for
MRI with contrast is better than CT
Usually treat with radiation and sometimes chemo
VERY POOR PROGNOSIS, ~10% survive for 1 year
68
# Intracranial and interspinal space occupying lesions
Lesions in patients with AIDS
Primary cerebral lymphoma, cerebral toxoplasmosis, cryptococcal meningitis are all common diagnoses in patients with AIDS
Can cause loss of consciousness, motor and sensory deficits, aphasia, seizures, cranial nerve problems
Cannot distinguish between them with CT or MRI
Very difficult to determine which it is
Refer to neurosurgery or AIDS specialists
69
# Intracranial and interspinal space occupying lesions
Spinal Tumors
Primary or metastatic
Can lead to spinal cord dysfunction because of direct compression, ischemia (because of vessel obstruction), or invasive infiltration (grows into and takes over)
Symptoms- odd pain, sometimes with motor deficits, numbness, bladder or bowel dysfunction, sexual dysfunction
Revealed on MRI with contrast or CT myelogram
CSF will be abnormal on puncture
Treatment varies based on type of tumor
70
# Intracranial and interspinal space occupying lesions
Brain Abscess
* Comes after an infection of the ear or nose OR can travel from another part of the body OR can be the result of infection introduced by trauma or surgery
* Most common: strep, staph and anaerobes
* Symptoms: HA, drowsiness, confusion, seizure, signs of increased ICP
* May not have any systemic sign of infection
* CT easier to get but MRI shows dz earlier
71
# Intracranial and interspinal space occupying lesions
Tx for Brain Abscess
Tx: IV antibiotics, surgical drainage if large or not responding to antibiotics
Broad spectrum tx: combo of ceftriaxone, vancomycin and metronidazole
MIGHT need steroids or mannitol if severe
72
# Pseudotumor cerebri
general
Basically, this is increased intracranial pressure that causes vision disturbance and HA
Often idiopathic, this type will resolve spontaneously after several months (AKA idiopathic intracranial hypertension)
Many other causes: thrombosis of transverse venous sinus (complication of otitis media or mastoiditis), sagittal sinus thrombosis, chronic pulmonary dz, lupus, uremia, endocrine dz (multiple options here), corticosteroid withdrawal (after long-term use)
73
# Pseudotumor cerebri
S/Sx
Headache
Diplopia
Other visual disturbances (large blind spot)
Pulse-synchronized tinnitus
74
# Pseudotumor cerebri
PE
Papilledema (swelling of optic disc)
Enlargement of blind spot
Otherwise, no change to PE
75
# Pseudotumor cerebri
Dx
CT or MRI for mass
MR venography to look for thrombosis
Lumbar puncture to check pressure; fluid will be normal
76
# Pseudotumor cerebri
Tx
REFER TO NEUROLOGY
Acetazolamide: 250-500mg orally 3x daily, titrating slowly up- reduces formation of cerebrospinal fluid
Topiramate can also work and has added benefit of potential weight loss
Furosemide helps as adjunct but not as primary tx
Corticosteroids can help but can also cause relapse with withdrawal
Lumbar punctures help temporarily- proceed with caution! Only use for severe cases not responding to pharm therapy
Surgery to place lumboperitoneal shunt or optic nerve sheath fenestration- last resorts
77
# Pseudotumor cerebri
Pearls
Idiopathic version usually happens in overweight women aged 20-44
Obese pts need to lose weight
Don’t just treat the intracranial htn; treat the underlying cause if you can find it
If untreated or poorly controlled, patient may experience permanent vision loss/ optic atrophy
Named this bc it mimics tumor symptoms
78
# Pseudotumor cerebri
Tx monitoring
Tx is monitored for effectiveness by checking visual acuity, visual fields, fundoscopic exam, and checking CSF pressure
Disorder may be stable for long periods of time and then become unstable again; needs frequent and long-term f/u
79
# Neurocutaneous disorders
is related to?
Related to embryonic development
-Tuberous sclerosis
-Neurofibromatosis
-Sturge-Weber Syndrome
80
# Tuberous sclerosis
general
| Neurocutaneous disorders
Tuberous sclerosis
Can be sporadic or related to autosomal dominant inheritance
Seizures and slow, progressive psychomotor deterioration beginning in early childhood
Skin manifestation starts between 5-10 yrs old and is red nodules on the face
Can also have subungual fibromas, shagreen patches and leaf-shaped hypopigmented spots
81
# Tuberous sclerosis
Brain related Sx
82
# Neurocuaneous disorders
include
Related to embryonic development
Tuberous sclerosis
Neurofibromatosis
Sturge-Weber Syndrome
83
# Tuberous sclerosis
Skin related Sx
| Neurocutaneous disorders
84
# Neurofibromatosis
general
a Neurocutaneous disorders
Sporadic or autosomal dominant inheritance
2 types
1 (Recklinghausen dz): multiple hyperpigmented macules, Lisch nodules, and neurofibromas; NF1 gene mutation on chromosome 17
2: bilateral 8th nerve tumors and other tumors; NF2 gene mutations on chromosome 22
Palpable, mobile nodules on cutaneous nerves
Café au lait spots
MANY complications from tumors
85
86
# Sturge-Weber Syndrome
general
a neurocutaneous disorder
Congenital, usually unilateral, cutaneous capillary angioma on the face
Sporadic
Seizures
Abnormal mineral deposits seen on skull x-rays after age 2
Can also have choroidal angioma in the eye and increased IOP
87
# Degenerative motor neuron diseases
General
-Group of disease characterized by weakness and wasting of muscles
-No significant sensory changes
-Progressive
-No cause other than genetics in familial cases but can have these diseases without genetic disorder
-Progressive bulbar palsy, pseudobulbar palsy, progressive spinal muscular atrophy, primary lateral sclerosis, ALS
-Often have trouble with swallowing, chewing, coughing, breathing and talking, in addition to limb weakness
-Edaravone is a free radical scavenger and slows disease progression in mild cases (60mg infusion for the first 10-14 days monthly)
-Other treatments include botox injections, lots of PT/OT, suction machines, feeding tube, tracheostomy
88
89
# Degenerative motor neuron diseases
Bulbar palsy
Lower motor neurons of the 9, 10, 12th CN.
90
# Bulbar palsy
S/Sx
91
# pseudobulbar palsy
general
bilateral upper motor neuron lesions of 9, 10, 12th.
92
# pseudobulbar palsy
S/Sx
93
Progressive spinal muscular atrophy
Lower motor neuron deficit in limbs due to degeneration of anterior horn cells of spinal cord
94
# Primary lateral sclerosis
general
Upper motor neuron deficits only in the limbs
Typically have longer life but have profound quadriparesis and spasticity
95
# ALS- Amyotrophic Lateral Sclerosis
general
Mixed upper and lower motor neuron deficit but **no sensory deficits**
Affects frontal motor neurons with upper motor neuron degeneration leading to **weakness, hyperreflexia, and spasticity**, as well as lower motor neuron degeneration leading to **weakness, atrophy, and fasciculations
SOMETIMES associated with cognitive decline, pseudobulbar affect, or parkinsonism**
Typically starts with limb involvement
~10% are familial genetic mutations
Onset is typically over a period of up to several months with progressive worsening
Should have changes in all 3 spinal regions before making diagnosis (or 2 plus bulbar musculature)
96
97
# ALS- Amyotrophic Lateral Sclerosis
PE
PE:
Clumsiness, gait abnormality, limb weakness, wristdrop or footdrop, poor fine motor skills (writing, drawing, etc.)
Muscle fasciculations
Voice changes
Involuntary laughing or crying
Drooling
Dyspnea on exertion
Cognitive changes are usually present later in disease
Sensation is intact
Hyperreflexia & +pronator drift
98
# ALS
Dx
Get EMG to rule out other causes and not to rule in ALS
No specific testing is used; diagnosed based on H&P
Labs are only used to rule other causes out and not to rule ALS in
brain CT or MRI
99
# ALS- Amyotrophic Lateral Sclerosis
Tx
Treatment is focused on survival (respiratory function & prevention of aspiration) and symptom management
Use orthotics and assistive devices to keep patient mobile (braces, canes, walkers, etc.)
Physical, occupational, and speech therapies
Treatment: **riluzole** 50mg twice daily reduces the presynaptic release of glutamate;
also, **edaravone** 60mg IV once daily for 2 weeks and then 2 weeks off; then 10 days on and 2 weeks off as needed- slows decline of daily function
Muscle relaxants and botox injections for spasticity
100
