Diseases Block 4 Flashcards
Injury to FEF
Sx: Loss of voluntary saccades to contralateral side and deviation of eyes towards lesion. Loss of ability to move gaze away from stimulus.
Sx: can resolve over time (days/weeks) due to plasticity
Premotor Cortex lesion
Lesion produces inability:
- respond properly to stimuli (i.e. can’t use toothbrush but know how)
- Plan appropriate movements based on circumstances (can’t reach under glass for treat)
- Lean new sensory-motor associations
- Steer arm accurately
Supplementary Motor Area Lesion
Lesion results in:
- reduction in volitional movements
- loss of suppression of motor programs triggered by visual stimuli (alien hand syndrome and utilization behavior)
- Neglect of affected limb
Alien Hand Syndrome
Contralateral “semi-purposeful” movements that are outside patient’s volitional control
Seen in lesion to SMA
Utilization behavior
Use of objects in an inappropriate setting (excessive response to external stimuli
Seen in lesion to SMA
Multiple Sclerosis
Autoimmune inflammation and demyelination of CNS. Patients can present with optic neuritis (sudden loss of vision), MLF syndrome (internuclear opthalmoplegia), hemiparesis, hemisensory symptoms, or bladder/bowel incontinence. Relapsing and remitting course. Most often affects women in their 20s and 30s; more common in whites.
Genetic and environmental. Linked to HLA-DR2 and some IL-2 and IL-7 receptor polymorphisms
Findings: increased protein (IgG) in CSF. Oligoclonal bands are diagnostic. MRI is gold standard. Periventricular plaques (areas of oligodendrocyte loss and reactive gliosis) with preservation of axons.
Charcot’s triad: SIN Scanning speech, Intention tremor, Incontinence, Internuclear opthalmoplegia, Nystagmus.
Treatments: Beta- Interferon or immunosuppressant therapy. Symptomatic treatment for neurogenic bladder, spasticity, pain.
Acute Disseminated Encephalomyelitis (ADEM)
Diffuse, monophasic demyelination following a viral infection; usually in children
Rapid onset headache, lethargy, coma
Fatal in 10%; rest recover completely
May be an acute autoimmune rxn vs myelin
Acute Necrotizing Hemorrhagic Encephalomyelitis
Fulminant CNS demyelination in young adults/children
that is preceded by URI.
Fatal in many patients; significant deficits in survivors
May be a hyperacute variant of ADEM
Central Pontine Myelinolysis
Symmetric loss of myelin in basis pontis and part of pontine tegmentum. Results in rapidly evolving quadriplegia.
Monophasic disease.
Caused by rapid correction of hyponatremia
Treahcer Collins Syndrome
Deficiency of neural crest cells migrating into the first arch.
Sx: Mandibulofacial dysostosis, Abnormal development of first arch structures, Hypoplasia of jaw; middle and external ear deformities, palate and eyelid defects.
“Fishmouth appearance”
Conductive hearing loss.
Autosomal dominant or teratogenic cause.
Pierre Robin Syndrome
Deficiency of neural crest cells migrating into first arch.
Sx: Abnormal development of first arch structures. U shaped cleft palate.
Micrognathia (small jaw) and large, posteriorly placed tongue leads to airway obstruction.
Genetic or environmental etiology.
Rx: Tracheostomy to maintain airway and bilateral mandibular lengthening.
Goldenhar Syndrome
1st and 2nd arch syndrome. Possibly caused vascular insult etiology.
Sx: hypoplastic maxilla, mandible, and temporal bone. Ear may be absent, vertebral abnormalitis, dermoid tumors of the eye.
Digeorge Syndrome
No thymus or parathyroids ( = diminished immunity, hypocalcemia)
Failure of neural crest migration into arches leading to 3rd and 4th pouch failure and hypoplasia of 1st arch (cleft palate, low set ears, poor feeding, delayed speech)
Heart defects, poor circulation, poor muscle tone.
CATCH 22: Microdeletion of Chr. 22q11.2 Cardiac abnormality (especially tetralogy of Fallot) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia/Hypoparathyroidism
Lateral cervical (branchial) cyst or fistula
When cervical sinus formed by 2nd, 3rd, and 4th clefts persists.
Thyroglossal Duct Cyst
Midline cystic mass
Preceding URI
Mobile with tongue protrusion and swallow.
Treatment:
- treat infx first
- avoid incision and drainage
- Excision of entire tract, cyst
- Remember anatomic relationships with nerves
Branchial Cleft Cyst or Lateral Cervical Cyst
Lateral Cystic neck mass
Preceding URI
Treatment:
- treat infx first
- avoid incision and drainage
- Excision of entire tract, cyst
- Remember anatomic relationships with nerves
Lingual thyroid
Undescended thyroid persists at back of tongue.
Ankyloglossia
Tongue tied.
Presentation: neonatal, dysarthria, dental issues
When in doubt, cut it out
TIA and TSI
Transient Ischemic Attack and TSI???
Transient neurologic dysfunction without evidence for cerebral infarct.
TSI: increased risk of stroke relative to TIA,
Intracerebral hemorrhage
A brain bleed that occurs below the pia mater
Rx: Stop or reverse anticoagulants
Risk Factors: Age, male, HTN, EtOH, Tobacco, DM
Dx: Non contrast CT (white)
Subarrachnoid Hemorrhage
Bleed between pia and arachnoid. Caused by trauma or burst aneurysm.
Sx: “Worst headache of my life” Nausea and Vomiting, red or yellow LP.
Dx: Non-contrast CT (white and more diffuse than intracerebral hemorrhage)
Risk Factors: Smoking, HTN, EtOH, Nonwhite, Family history, Aneurysm
Rx: Nimodipine (Calcium channel blocker), coils or surgical clipping of aneurysms.
Small Vessel (Lacunar) Stroke
HTN induced endothelial damage which leads to clot formation.
MCA Stroke
Upper body, face, broca’s on dominant side, neglect of nondominant side, dysphagia, homonomous hemianopsia (look at stroke)
ACA Stroke
Lower body, frontal lobe, personal problems
Lenticulostriate Stroke
Deep structures, hemiparesis, hemiplagea, weird
Verterbral Artery Stroke
Vomitting and Nystagmus.
Cerebellar dysfunction
Lateral medullary infarct (Wallenberg Syndrome)
Basilar Artery Stroke
Altered consciousness, CN involvement, and Respiratory Problems
PCA Stroke
Vision loss (often macular sparing)
Parkinson’s Disease
Degenerative disorder of CNS associated with Lewy Bodies (alpha-synuclein intracellular inclusion) and depigmentation of the substantia nigra pars compacta (loss of dopaminergic neurons)
TRAP: Tremor at rest (pill-rolling) Rigidity (cogwheel), Akinesia, and Postural instability (shuffling gait)
Rx: Levodopa-Carbidopa is the standard. Many others. Goal is to increase CNS DA levels.
Hemiballismus
Sudden wild flailing of one arm +/- leg that is characteristic of contralateral subthalamic nucleus lesion (i.e. lacunar stroke). Loss of inhibition of thalmus through globus pallidus.
Huntington’s Disease
Autosomal dominant trinucleotide repead disorder characterized by chorea, aggression, depression, and dementia. (sometimes mistaken for substance abuse)
Neuronal death via NMDA-R binding and glutuamte toxicity. Atrophy of striatal nuclei (main inhibitors of movement) can be seen on imaging.
Expansion of CAG repeats (Caudate loses Ach and Gaba)
Symptomatic care. Usually death withing 10-20 years of onset.
Diabetes Insepidus
Loss of vasopressin secondary to: 1.) head trauma, 2.) autoimmune attack of magnocellular neurons, or 3.) Idiopathic
Symptoms: Polyuria and Polydypsia
Rx: desammo? Vasopressin (retain water w/o increased BP)
Galactorrhea-amenorrhea
Innapropriate lactation adn cessation of menstration due to too much prolactin.
Etiology: Pituitary microadenoma that releases prolactin leading to decreased FSH and LH. Patient will present with problems getting pregnant.
Rx: 1.) surgical resection 2.) give dopamine receptor agonist to block prolactin.
Prader-Willi sydrome
Deletion on chromosome 15
incidence: 1 in 25,000
Sx: fetal hypotonia, mental retardation, hypogonadotropic hypogonadism, hyperphagic obesity (due to increased grehlin release)
Urbache-Wiethe disease
Very rare genetic disease that affects medial temporal lobes
Impaired recognition of emotion and memory loss especially informational w/ emotional content
PTSD
Triad of Symptoms: Re-experiencing phenomona (flashbacks), avoidance of situations parallel the initial trauma, and hypervigilance/arousal (increased anxiety)
Etiology: Decreased activity in medial prefontal cortex which inhibits amygdala activity. Secondary to fear conditioning.
Schizophrenia
Etiology: Two hypothesis: 1.)too much dopamine receptor activity 2.) too little glutamate NMDA activity
Rx: haloperidol (typical), clozapine (atypical)
Depression
Caused by decreased NE and 5-HT receptor activity
Symptoms: lethargy, anhedonia, and loss of sleep
Incidence: 15% (girls almost 2x)
Rx: MAOis, Tricyclics (Imipramine), or SSRIs (Fluoxetine)
Korsakoff’s Syndrome
Damage to mamillary body or mamillo-thalamic tract secondary to Thiamin (B1) defeiciency. (Alcoholics or Malnutrition)
Symptoms: (Can of Beer) Disorder of immediate memory, Disorientation in space and time, and Confabulation
Kluver-Bucy Syndrome
Caused by bilateral medial temporal lobe damage secondary to encephalitis or trauma.
Symptoms: Oral tendencies, Neutral affect on emotions (amygdala), hypersexuality (hypothalamus), visual agnosia
Alzheimer’s Dementia
Degenerative loss of cholinergic input to hippocampus starting in Nucleus Basalis. Loss of neurons in multiple areas. Presence of neurofibrillary tangles (NFTs) and Beta-amyloid plaques.
Symptoms: loss of memory, mood disorder (anxiety and depression), loss of motor function, complete loss of cognitive function
Chronic Traumatic Encephalopathy (CTE)
Progressive neurodegenerative disease caused by repetitive head trauma (mild traumatic brain injury, TBI or concussions).
Etiology: Generalized brain atrophy including prefrontal cortex, temporal lobes, and parietal lobes. NFTs present.
Triad of symptoms: 1.) cognition: anterograde amnesia and executive dysfunction, 2.) Mood: depression and apathy, and 3.) Behavior: loss of impulse control and aggressiveness
