Classic Presentations Flashcards
Clinical Presentation on the Question side, and Diagnosis / Disease on the other side
Abdominal pain
Ascites
Hepatomegaly
Budd Chiari Syndrome (aka Post-Hepatic Venous Thrombosis)
Achilles Tendone Xanthoma
Familial Hypercholesterolemia (Decrease LDL Signaling)
Adrenal Hemorrhage
Hypotension
DIC
What is the pathogen that leads to this presentation?
Waterhouse - Friedrichson Syndrome (Meningococcemia)
Arachnodactlyly
Lens Dislocation
Aortic Dissection
Hyperfelxible joints
Marfan’s Syndrome
A mutation in which gene leads to Marfan’s Syndrome?
Fibrillin gene
Athlete with polycythemia
Secondary to EPO injection
Back pain
Fever
Night sweats
Weight Loss
Pott’s Disease
Pott’s Disease is caused by_____?
Vertebral TB
Bilarteral Hilar Adenopathy
Uveitis
Sarcoidosis
non-caseating granulomas
Blue Sclera
Osteogenesis Imperfecta
Bluish linie on gingiva
Burton’s line
Burton’s line is caused by____?
Lead Poisoning
Bone Pain
Bone Enlargement
Arthritis
Paget’s Disease of Bone
increase of osteoblastic and osteoclastic activity
Bounding Pulses
Diastolic Heart Murmur
Head Bobbing
Aortic Regurgitation
“Butterfly” facial rash
Raynaud’s phenomenon in a young female
SLE
Cafe-au-lait spots
Lish Nodules
Iris Hamartoma
(+pheochromocytoma, Optic Gliomas)
Neurofibomatosis Type I
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious Puberty
Multiple Endocrine Abnormalities
McCune Albright Syndrome
Which Mutation causes McCune Albright Syndrome?
Mosaic G-Protein Signaling mutation
Calf pseudohypertrophy
Muscular dystrophy
What movement is characteristic of Muscular Dystrophy?
Gower’s Maneuver
What mutation causes Muscular dystrophy?
X-linked Recessive mutation of dystrophin gene
“Cherry - Red Spot” on Macula
Individual causes
Tay-Sachs: Ganglioside accumulation
Neimann-Pick Disease: Sphingomyelin accumulation
Central Retinal Artery Occlusion
chest pain on exertion
Angina:
Stable - with moderate exercise
Unstable - with minimal exercise
Chest pain
pericardial effusion/ friction rub
Persistent fever following MI
Dressler’s Syndrome
What is the cause of Dressler’s Syndrome?
Auto-immune mediated Post-MI fibrinous pericarditis
When is it common to see Dressler’s syndrome post an MI?
1-12 weeks
Child uses arms to stand up from squat
Gower’s Maneuver
Child with fever later develops red rash on face that spreads to body
“slapped cheeks”
Erythema infectious/ 5th Disease: parvovirus B19)
Chorea
Dementia
caudate degeneration
What causes this?
Huntington’s Disease
ADDx: CAG repeat expansion
MC: 30-40 years
shows anticipation
insidious onset of personality and then physical changes:
personality: Aggressiveness, Flat affect, depression, or anxiety, dec. memory, concentration, psychosis.
Movement:
purposeless movement, choreiform movements, bradykinesia
Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
myoglobinuria
McArdle’s Disease
What causes McArdle’s Disease?
Muscle Glycogen Phosphorylase Deficiency
Cold Intolerance
Hypothyroidism
Heat Intolerance
Hyperthyroidism
Conjugate lateral gaze palsy
Horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF)
Bilateral INO
Multiple Sclerosis
Unilateral INO
Stroke
Continuous “machinery” heart murmur
PDA
How do you close a PDA? Keep it open/maintain?
Close: Indomethicin
Open: Misoprostol
Cutaneous/ Dermal edema due to connective tissue deposition
Myxedema
Cause of Pre-tibial Myxedema?
Hypothyroidism
Grave’s Disease
Dark Purple skin
Mouth Nodules
Kaposi’s Sarcoma
Usually seen in AIDS patients
Associated with HHV-8
Deep, Labored Breathing
Hyperventilation
Kussmaul breathing
associated with DKA
Dermatitis
Dementia
Diarrhea
Pellagra
B3-Df
Dilated Cardiomyopathy
Edema
Alcoholism or malnutrition
Wet Beri-Beri (Vitamin B1 Df.)
Dog or cat bite resulting in infection
How does this present?
Pasteurella multocida
Presents as cellulitis at inoculation site
Dry eyes
Dry Mouth
Arthritis
Sjogren’s syndrome
What causes Sjogren’s Syndrome
Autoimmune destruction of exocrine glands
Dysphagia (esophageal webs)
Glossitis
Iron Deficiency Anemia
Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma)
Elastic Skin, hyper mobility of joints
Ehlers-Danlos Syndrome
Erythroderma
Lympadenopathy
Hepatosplenomegaly
Atypical T Cells
Sezary Syndrome (Cutaneous T-Cell Lymphoma)
OR
Mycosis fungoides
Facial muscle spasm when tapped
Chvostek’s Sign
Indicative of Hypocalcemia
Fat
Female
Forty
Fertile
Cholelithiasis
Fever
Chills
headache
myalgia following ABx treatment for syphilis
Jarisch-Herxheimer Rxn
rapid lysis of spirochetes results in toxin release
Fever Cough Conjunctivitis Coryza Diffuse Rash
Measles
Fever
Night sweats
Weight Loss
B-symptoms
Fibrous Plaques in soft tissue of penis
Peyronie’s Disease (CT Ds)
Gout
Mental Retardation
Self-mutilating Behavior in a boy
Lesch-Nyhan Syndrome
What causes Lesch-Nyhan Syndrome?
HGPRT Df. X-Linked Recessive
Green-yellow rings around peripheral cornea
Kayser-Fleiscer rings from Copper Accumulation in Wilson’s Syndrome
Hamartomatous GI Polyps
Hyperpigmentation of Mouth, Feet and Hands
Peutz-Jergers Syndrome
Inherited, benign polyposis can cause bowel obstruction
carries an increased cancer risk - Mainly GI
Hepatosplenomegaly
Osteoporosis
Neurologic Symptoms
Gaucher’s Disease
What causes Gaucher’s Disease
Glucocerebrosidase Df.
Hereditary nephritis
Sensorineural Hearing loss
Cataracts
Alports Syndrome (mutation in the Type IV collagen in GBM)
Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility
Kluver Bucy Syndrome
What causes Kluver-Bucy Syndrome
Bilateral Amygdala lesion
Hyperrefelxia
Hypertonia
Babinki signt present
UMN lesion
Hyporeflexia
hypotonia
Atrophy
Fasciculations
LMN lesion
Hypoxemia
Polycythemia
Hypercapnia
“Blue Bloater” COPD = Chronic Bronchitis due to hyperplasia of the mucous cells
Indurated, ulcerated genital lesion
Non-painful: chancre (Primary Syphilis, Preponema pallidum
Painful, with exudate: chancroid (Haemophilus ducreiyi)
Infant with cleft lip/palate microcephaly holoprosencephaly polydacyly cutis aplasia
Patau’s Syndrome
Trisomy 13
Infant with failure to thrive
Hepatosplenomegaly
Neurodegeneration
Niemann - Pick Disease
What causes Niemann-Pick Disease?
genetic sphingomyelinase deficiency
Infant with hypoglycemia
Failure to thrive
Hepatomegaly
Cori’s Dx
What causes Cori’s Disease?
Debranching Enzyme Df.
Infant with microcephaly
Rocker-bottm feet
Clenched hands
Structural heart defect
Edward’s Syndrome (Trisomy 18)
Jaundice
Palpable distended non-tneder gallbladder
Couvoisier’s sign - distal obstruction of biliary tree
Large rash with bull’s eye appearance
Erythema chronic migraines from Ixodes tick bite
Lyme Dx: Borrelia
Lucid interval after TBI
Epidural hematoma
Most common artery that breaks in a Epidural Hematoma?
Middle Meningeal artery
Male child
Recurrent infections
No Mature B-Cells
Burton’s disease
What causes Burton’s disease?
X-Linked agammaglobulinemia
Mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in PLT aggregation due to lack of GpIIb/IIIa)
Cause of Glanzmann’s thrombasthenia
defect in PLT aggregation due to lack of GpIIb/IIIa
Muffled heart sounds
distended neck veins
Hypotension
Beck’s triad of cardiac tamponade
Multiple colon polyps
Osteomas/ soft tissue tumors
impacted/supernumarary teeth
Gardner’s syndrome (subtype of FAP)
“Thyroidization” of the Kidneys: with which Disorder is it associated?
Chronic Pyelonephritis
recently hospitalized patient displays spastic quadriplegic…what could have happened and why?
Central Pontine Myelinolysis: Destroys the corticospinal tracts creating a “locked in Syndrome”
Note: Locked in Syndrome can also be caused by an occlusion of the basilar artery
Triad: dysarthria, dysphagia, and head/neck muscle weakness that presents in addition to quadriplegia
The other half of Central Pontine Myelinolysis: Pseudobulbar palsy. Demyelination of: CN IX: can't talk CN X: can't swallow CN XI: head and neck muscle weakness
This is called pseudo bulbar because it is a DEMYELINATING disorder, which by definition means that you are affecting the axons. Bulbar palsy however, is caused by degeneration of the associated nuclei of the CN listed above.
Rapid correction of Hypernatremia leads to
Cerebral edema
Rapid correction of Hyponatremia
Central pontine myelinolysis
Capropedal spasm
Spasmodic movement of the hands +/- feet
Caused by Hypocalcemia
Chvostek’s sign
twitching if the jaw by tapping the mandibular nerve.
Early onset ataxia with repeated sinopulmonary infections, and then abnormal dilatations of the capillary vessels of the eye.
ARDx: Faulty DNA Repair after Ionizing radiation
Ataxia-Telangiectasia
Chromosomal Instability Ds
- Ataxia-Telangiectasia: Unable to repaire non-homologous end-joining caused by Ionizing radiation
- Xeroderma Pigmentosa: NER: UV Light (premature skin aging and increased risk of skin cancer = malignant melanoma and SCC)
- Fanconi syndrome: HS of DNA to cross-linking agents
- Bloom Syndrome: Generalized chromosomal instability - increased susceptibility to neoplasms
- HNPCC: defect in MMR
Neurofibrillary tangles
Alzheimer’s Dx
Loss of neurons in the substantial nigra pars compacta
PDx
Presents with memory impairment, cogwheel rigidity, bradykinesia, masked facies. The dementia is gradual
Bilateral Atrophy of the Caudate and putamen
Huntington’s
In addition: Caudate atrophy shows
dilation of the frontal horns of the lateral ventricles, and microscopy of the atrophic areas reveals gliosis and neuronal loss
Posterior DCML demyelination
B12 or syphilis
Lewy bodies
PDx OR
Lewy Body dementia
VMN
Nml: satiety
AB: hyperphagia
(+) letpin
LMN
Nml: hunger
AB: Anorexia
(-) leptin
AMN
N: heat dissipation via PSNS
A: hypothermia
PMN
N: Heat conservation via the SNS
A: hypothermia
Arcuate
Secretes DA to (-) PRL, GHRH, GnRH
PVNM
ADH, CRH, Oxytocin, TRH secretion
Supraoptic Nucleus
ADH and Oxytocin secretion
Suprachiasmatic Nucleus
Circadian rhythm and pineal gland function (melatonin)
Jet Lag represents disorder in what hypothalamic nucleus?
Suprachiasmatic nucleus
Dyssynchrony between the body’s circadian rhythms and the environment (i.e. light): insomnia, daytime sleepinesss, dec. work performance, GI issues, and malaise.
Input into the Suprachiasmatic nucleus comes from ___
Photosenstative ganglion in the retina = retina hypothalamic tract.
the suprachiasmatic regulates the circadian rhythm by modulating ___
modulates body temperature (inc. in morning) cortisol levels (why its higher with no sleep) melatonin levels (induction of sleep). should be highest at night, lowest in the middle of the night
Traveling which direction takes a longer time to resynchronize the suprachiastmatic nucleus?
Eastward travel > Westward
its easier to lengthen the sleep/wake cycle than it is to shorten it.
sudden spike in prolactin that is drug induced
typically antipsychotics that have more D2>5HTx. these would be typical anti-psychotics
galactorrhea
regulated by increased prolactin. normal post-delivery, abnormal any other time
tuberoinfundibulnar dopaminergic pathway
connects the hypothalamus and the pituitary gland. DA (-) PRL release.
Sx of high prolactin (with no tumor)
galactorrhea
changes in menstrual cycle
Sexual dysfunction
Mesolimbic - mesocortical pathway
regulates behavior and is the most disrupted in Schizophrenia, where the tonic control of the Mesolimbic pathway over the mesocortical is missing
Nigrostriatal pathway
Substantia nigra to the caudate nucleus and the putamen (in this sentence both PDx and HDx is covered).
This pathway has DA (-) ACh release
Why can the Tx with high dose anti-psychotics present with parkinsonian features?
because they disrupt the DA (-) over ACh in the nigrostriatal pathway that controls movement (via basal ganglia)
What are the 3 important DA pathways?
- Tuberoinfundibular (DA (-) PRL release)
- Nigrostriatal (DA (-) ACh)
- Mesolimbic-Mesocortical (DA (-) 5HTx)
Necrosis due to ischemic injury presents with what two features? Which organ is the one exception to the rule?
Ischemia will almost always lead to Coagulative Necrosis. the one organ that is exempt is the brain, which presents with liquifactive necrosis.
- Presents with initial preservation of cytoarchictecture
- a nucleated eosinophillic cytoplasm
- eventual Leukocytes clean up the mess
Liquifactive necrosis is due to _____, and presents with what features?
Causes: focal bacterial infections that (+) WBC reaction
Predominant form of necrosis in the brain
1. Necrotic cells are digested, no cytoarchitecture preserved
2. viscous liquid mass made
3. necrotic fluid becomes filled with pus, and is assoc. with abscess formation in the peripheral tissues. In the brain it will be CSF-filled spaces.
Fat Necrosis
Seen with acute pancreatitis - enzymatic activation will self-digest.
Seen with saponification (chalky -white deposits that form with FFA)
Note: this is also seen in the gut. it is not recommended to take calcium with fatty foods - will not absorb.
Caseous necrosis
TB infection (MC) Histoplasma Cryptococcus Coccidioses Cheesy tan-white gross appearance Consits of fragmented cells surrounded by M0 = granuloma
Left MCA stroke
R. hemiparesis
Dysphagia
the brain will present with full on liquifactive necrosis in __ Days
10
Fibrinoid necrosis
Histologic pattern of injury seen in the vessel walls that are affected by:
Vasculits (i.e. PAN)
Malignant HTN
DM
Non-enzymatic Fat necrosis occurs due to
trauma
MC is the female breast
often mistaken for a tumor
Broca’s Aphasia
"Broca = Broken Speech" Broadman Area 44/45 Communication motor planning Patient will be able to talk but they have to think about how to make every word. Comprehension is intact, and they have a hard time repeating anything. Associated with r. hemiparesis MCA stroke typically a frustrated patient
Wernicke’s aphasia
Word Salad
Poor comprehension
rep. impaired
Associated with R. Superior visual Field defect
Damage to frontal eye field?
Located directly anterior to the pre-central gyrus
Damage = Ipsilateral deviation
Pre- central gyrus
Primary motor cortex
- dysarthria
- paresis/ paralysis
- trouble moving mouth, tongue, and larynx.
- hemiparesis
- apraxia
- NO language involved.
MCC aseptic meningtitis
Viral
Enteroviruses
coxsackievirus, echovirus, poliovirus, and enterovirus = 90% of cases
HA
Fever
Neck stiffness
Viral Meningitis
Spinal tap will differentiate the types.
+/- photophobia, lethargy
Focal Neurologic Signs
Stupor
Photophobia
Fever
Bacterial Meningitis
in only 40% of cases do you see nuchal rigidity
MCC Bacterial Meningitis
S. pneumonia
N. meningitidis
(in neonates = Listeria and GBS)
meningitis + parotitis
seen in 50% of mumps cases
MCC common cold
Coronavirus
Rhinovirus
Adenovirus (Also the MCC of monocular conjunctivitis)
MCC of meningitis in AIDS patients
Cryptococcal Meningitis
DDx: India ink stain
Acute onset difficulty walking with bilateral extremity weakness
Seen with absent DTRs
PMH reveals GI infection
c. jejuni - MCC of infectious diarrhea and it is the
MCC of GBS
Demyelinating syndromes of the peripheral nerves
GBS
Ascending paralysis that can lead to respiratory failure
diplopia
dysphagia
dysphonia
The 3 D’s of Botulinum Toxin
Occurs within 12-46 hrs of exposure
types of botulism
Food-borne
Wound
infant (honey)
confusion
HA
Inflammatory CSF
Meningitis
C. neoformans
- Narrow based buds with thick capsule
- soil/pigeon droppings
- Primary: Lung
- MC: meningoencephalitis
- Can disseminate
DDx: India Ink + Latex agglutination (poly.capsule) of CSF
Growth: Sabouraud’s agar
Methenamine
Mucicarmine stains fo tissue = C. neoformans
Tx of c. neoformans
Amphotericint B + Flucytosine (Acute)
Fluconazole (prophylaxis)
Non-septate hyphae
Wide angle: Mucor/Rhizopus
- love DM/leukemia patients
Narrow angle: Aspergillus
Germ tubes
C. albicans
to see germ tubes you have to incubate at 37 degrees for 3 hours
spherules
Coccidiodes immitis
Lung Dx
Disseminated mycosis
How many Ub indicate destruction tag?
4
Parkin
PINK-1
DJ-1
mutations
ARDx form of PDx (<50y/o)
leads to a breakdown in the Ub-Proteosome system
Histone acetylation promotes_____
euchromatin
Histone deacetylation promotes
Heterochromatin
Df. of bilirubin glucuronidase
Crigler-Najjar Syndrome
Complete Df is fatal
Ophthalmoplegia
Ataxia
confusion
"Eyes, Lies, Capsize" Wernicke Syndrome lethal in 10-20% due to B1 Df. commonly seen in the malnourished (classic patient is an alcoholic)
Will show foci of hemorrhage and necrosis in the MAMILLARY BODIES and PAG
Tx: B1 + Glc
vitamin B1: Rxns
Pyruvate dehydrogenase
alpha-ketoglutarate dehydrogenase
Transketolase (PPP - pensose to G3P)
Wernicke Syndrome: DDx
increase in RBC transketolase levels after B1 infusion
G6PD Df
RLS in PPP: hemolytic anemia
Methylmalonic acid
product of FFA oxidation
converted to succiyl-CoA by methylmalonyl-CoA mutase with the help of B12
B12
Methylmalonyl-CoA mutase
DDx: increased methylmalonic acid, which will not be present in Folic acid df.
why does a df. in B1 lead to Wernicke Syndrome?
the brain can’t utilize glucose as well because it is so critical to the Kreb’s Cycle and the FFA beta-Oxidation
pale catecholaminergic nuclei
pale hair, skin
light eyes
PKU can't use phenylalanine = no DA, NE, E No melatonin (Tyrosinase can't convert nothing)
abdominal pain
neuropsychiatric changes
darkening of urine
acute intermittent porphyria
Valproate in a pregnant woman
Teratogenic
Neural tube defect - meningocele
Why?
Valproate (-) intestinal Folic Acid uptake
coarctation of aorta + bicuspid aortic valve = Most Likely Ds
Turner Syndrome
Duodenal Atresia = associated congenital disorder
Downs
- bilious vomiting w/o abominal distension
Typically seen on 1st day of life
Peristaltic wave may be appreciated
Commonly (+) History of polyhydramnios
Potter Sequence results in
Renal agenesis and Lung hypoplasia
typically spontaneously abort
Lithium in pregnancy
Ebstein’s anomaly
“atrialized RV”
Downward displacement of tricuspid and thin IV septum
Mature defenses
Suppression: intentional withholding of distressing unconscious material
Humor: making light of ___
Altruism: ameliorated feeling of guilt by giving to others without solicitation
Immature defenses
Repression: trigger releases a stored memory
Isolating: distance yourself from a bad memory
emotional lability disruptive behavior dec. need for sleep sexual inappropriateness auditory hallucinations Record of previous episodes
psychotic feature: auditory hallucination
the record of the previous episode will shift this from a DDx of “bipolar Ds, manic episode with psychotic features”
TO
“Schizoaffective Ds”
Schizoaffective Ds
mood symptoms
concurrent symptoms of schizophrenia
at least a 2 eek period in the absence of prominent mood symptoms
paranoid schizophrenics
no mood swings, only paranoia +/-hallucinations
Schizophreniform Ds vs. Schizophrenia
Both have:
- 2+ of delusions, hallucinations, disorganized speech/behavior +/- (-) Sx
Schizophreniform: Sx longer than 1 month but less than 6
Schizoaffective Ds: 2 weeks of schizophrenic Sx with mood symptoms
Tooth crowding
arched palate
long thin face with prominent forehead/jaw
Mental retardation
Fragil X Syndrome
CGG Trinucleotide repeat Ds
> 200 = full blown Ds
Neurologic deficits that cannot be explained by 1 lesion
motor and sensory
suspect MS Patient is MC a female between 20-30 y/o - Optic Neuritis - INO - Cerebellar DysFx - Sensory and Motor symptoms: includes bladder and bowel dysfx
optic neuritis
visual disturbances
Central scotoma
painful eye movements
INO
Internuclear Ophthalmoplegia (INO) impaired eye adduction during the lateral gaze during the lateral gaze due to demyelination of the MLF
Tremor
Ataxia
Nystagmus
Cerebellar DysFx triad
MC Non-Specific Symptom of MS
When is this most pronounced and why?
Fatigue
- after taking a hot shower or after strenuous activity unheated environments
Due to decreased axonal transmission associated with increased heat.
heat may also lead to worsening of neuro deficits (heat sensitivity)
Depression
Apathy
Dementia
Choreiform movements
HDx
Progressive
CAG repeat gene
Choreiform Movements
Facial grimacing Ataxia dystonia tongue protrusion writhing movements of the extremities
transient focal neuro Sx that last less than 24 hrs
TIA
amaurosis fugax
Transient monocular blindeness
In TIA = does not progress to optic neuritis
Development of Pruritis when exposed to a hot shower
polycythemia
Caused by HIS release from Basophils
Neuromuscular excitability Irregular course tremors fascicular twitching agitation ataxia delirium
DDx? Tx? Contraindicated Rx?
Chronic Li Toxicity
Gradually develops and will present with neurologic symptoms
Tx: Hemodialysis
contraindicated drugs for Li: Thiazide diuretics ACE-I: impairs CL NSAIDs: impairs CL Non-DHPs
Lithium
Very narrow therapeutic index
Toxicity develops at Cp>=2.0
almost exclusively handled by the kidneys, PCT >60% handling.
Li will impair Na handling, and therefore drop s[Na]. To compensate the kidney tries to take up more Na, but only more Li can come in - this is how you develop Lithium Toxicity
What will worsen Lithium toxicity?
anything that changes the GFR
- Renal Injury
- Toxins
- Drugs
- volume depletion
- decompensated CHF
- cirrhosis
all will lead to an inc. reabsorption of Li and Na
If you have a schizophrenic with HTN and CHF, which drug class should you choose?
Furosemide
DHPs (only!)
ADDx
Hemangioblastomas
VHL
Capillary hemangioblastomas in the Retina/ cerebellum
congenital cysts and/or neoplasms in the:
- Kidney
- Liver
_ Pancreas
Patients are also at risk for bilateral RCC
VHL as a TSG
VHL controls HIF-alpha phosphorylation. When de-phosphorylated, it can combine with HIF-beta = upreg. of GF: VEGF, PDGF, EDGF, FGF…
Von-Recklinghausen’s Dx
Chr. 17: NF-1 ADDx
Almost complete penetrance, but variable expressivity
Inherited PERIPHERAL NS tumor syndrome
- neurofibromas
- optic nerve gliomas
- lisch nodules (copper flecks)
- cafe au lait spots
NF-2
Neurofibromatosis - 2
ADDx
CNS Tumor syndrome
Bilateral cranial nerve VIII schwannomas and multiple meningiomas
Encephalotrigeminal angiomatosis
aka Sturge-Weber Syndrome
Rare
Congenital nerucutaneous Ds
Facial angiomas leptomeningioal angiomas Typically involves V1 and V2 distributions Mental retardation Seizures hemiplegia Skull radiopacities Skull = "tram-track" appearance
Sturge-weber Syndrome
cyts in the kidney
cortial and sub-ependymal hamartomas
Tuberous Sclerosis ADDx Causes cysts in: - kidney - liver - pancreas Also: CNS manifestation: - Hamartomas Skin: - cutaneous angiofibromas - Visceral cysts Tuberous Sclerosis is the MCC: - Renal Angiomyolipomas - Cardiac rhabdomyomas
Biggest complication in TS
Seizures
- epistaxis
- GI bleeding
- hematuria
Osler-Weber-Rendu Syndomre (HHT)
ADDx of congential telangiectasias
Rupture of the telangiectasias = Sx
Waddling Gait
Hip instability:
-DMD/ BMD (less)
kyphoscoliosis in a young person
DMD
Marfan’s
lipid accumulation in muscle
Carnitine palmitoyltransferase Df
Proximal muscle weakness W/O proximal muscle weakness
Polymyositis
will show PMN in the myofibers, not near the periphery
Ragged Red fibers
MESLA
MERA
area postrema
On dorsal medulla, near the 4th ventricle
Chemoreceptor trigger zone
area that receives blood from fenestrated capillaries, allowing sampling
Thought to be involved in vomiting reflex to toxins/changes in electrolytes
ASA (anterior spinal artery)
Lateral Corticospinal tract: Medial Lemniscus Caudal Medulla (CN XII) Sx: Contralateral hemiparesis - LE decreased contralateral proprioception Ipsilatral hypoglossal dysfunction (tonge deviates ipsilaterally) Common to present bilatrally
MCA stroke
Contralateral motor and sensory deficit in face + UE>LE + homonymous hemianopia WITH macular involvement (unlike the PCA which does not have macular involvement)
If Temporal lobe: Wernicke’s Aphasia if in the dominant lobe, hemineglect if in the non-dominant lobe
If Frontal Lobe: Broca’s Aphasia
ACA stroke
Motor Cortex: Contralateral paralysis of lower limb
Sensory cortex: Contralateral loss of sensation in LE
Lateral Striate artery stroke
Striatum and internal capsule are affected:
Contralateral hemiparesis/ hemiplegia
Common cause of lateral striate artery stroke
lacunar infarct (Charcot-Buchard) secondary to HTN
which stroke is common bilaterally
ASA stroke
Medial medullary syndrome
infarct of paramedian branches of ASA and vertebral
arteries
Sx:
Contralateral LE hemiparesis with Decreased proprioception (“slapping foot gait”)
Ipsilateral paralysis of the tongue to the ipsilateral side of the lesion (so opposite the LE)
Lateral meduallay (Wallenberg’s ) Syndrome
Caused by a PICA stroke
“Vomiting, Vertigo, Nystagmus” +
Contralateral Loss of pain and temp sensation
Ipsilateral deficits of:
CN V, VIII, IX, X, XI; and horner’s Syndrome
AICA Stroke
Classic Sx: Vomiting, Vertigo, Nystagmus and PARALYSIS of the face with preserved touch sensation
Lateral pons: CN nuclei affected
Vestibular nuclei: Vertigo, Vomiting, Nystagmus
Facial Nucleus: decreased taste from anterior 2/3 of the tongue (CN VII),
Spinal Trigeminal nucleus: decreased pain and temp sensation
cochlear nucleus: decreased hearing ipsilaterally
Sympathetic fibers: decreased corneal reflex
Ipsilateral Horner’s Syndrome: decreased lacrimation, salivation (PSNS)
Middle and inferior cerebellar peduncles:
ataxia
dysmetria
Lateral Pontine Syndrome
Facial nucleus effects are specific to AICA
“If the face droops, then the AICA’s Pooped”
sudden onset HA
Partial loss of vision
Contralateral Homonymous hemianopia with macular sparing
PCA stroke
occipital cortex, visual cortex
Contralateral hemianopia with macular sparing
A. Comm Stroke
Common site of saccular (berry) aneurysm = impingement on cranial nerves
leads to visual field defects
Lesions are typically aneurysms, not strokes
P.Comm Stroke
Common site of saccular aneurysm
CN III palsy
“Down and Out”
Ptosis
Pupil dilation
CN III palsy
“worst HA of your life”
Sub-arachnoid hemorrhage
Classically: rupture of a berry aneurysm
Berry Aneurysm
MCC of Sub A hemorrhage:
At the circle of willis
rupture = SAH: there will be NO focal neuro deficits if it is a SAH
Can see bi-temporal hemianopia with compression of the optic chasm = if still an aneurysm
ADPKD, EDS, Marfans are Genetic disorders classically associated with Berry Aneurysms
cuneus vs. lingual gyrus
cuneus: upper 1/2 of retina
lingual: lower 1/2 of retina
Acute onset
painless
complete loss of vision in one eye
Occlusion of the central retinal artery
_____ can block tolerance to morphine
Ketamine: (-) NMDA (R)
Dextromethorphan: (-) NMDA, reverses tolerance
up-reg glutamate in NMDA (R) which will lead to inc. (P) or inc NO levels, which mediate morphine tolerance
NE
- as a hormone
- as a NT
Hormone: attention and impassivity
NT: post-ganglionic neurons to (+) SNS
Innervation to the tongue
Motor: CN XII, except the palatoglossus (CN X)
General Sensory:
Anterior 2/3: CN V3
Posterior 1/3: CN IX
Posteror area of the tongue root and taste buds of the larynx and esophagus: CN X
Gustatory:
ant. 2/3: chorda tympani of the CN VII
same for post 1/3 and larynx/esophagus as it is for sensory
terminal sulcus and foramen cecum of the tongue
Think of an Arrow:
terminal sulcus is the front full edge (triangle), the foramen cecum is the tip.
the wood stick and back is going to be the anterior 2/3 of the tongue and is innervated by CN XII, V3, and the chorda tympani of the VII for motor, sensory, and taste, respectively
+/- history of aneurysm
AMS (+)
neurological deficits
DDx? Tx?
Vasospasm post sub-A hemorrhage
Treat with Nimodipine
generalized muscle stiffness
shaking of one hand
3 weeks ago he had a psychotic episode
Drug-induced parkinsonism - D2 (R) (-) Anti-Psychotics: T>A (Haloperidol is the most) Anti-emetics/ GI motility agents: Prochorperazine, metoclopramide
Sx: Prominent rigidity & bradykinesia
Tremor at rest and postural
Masked facies
Tx: dec. / stop Rx, Anti-cholinergics (Trihexyphenidyl, benztropine), Amanatadine (anti-viral with (+) DA)
Trihexylphenidyl
Benztropine
used to reverse Drug induced parkinsonism
these are CNS acting anti-Mx(R)
In what time period would it make sense to suspect Drug induced parkinsonism
first 3 mod of Tx
Person comes in with Drug induced Parkinsonism - give him Levodopa right?
Bromocriptine?
No - it can precipitate psychosis
In what patient population are trihexyphenidyl and benztropine contraindicated?
- elderly
- closed - angle glaucoma
- BPH
can also cause dry mouth and suppurative parotitis
Used to Tx:
Seizures
Anxiety Disorders
Muscles Spasms
Benzodiazepine: Diazepam modulates GABA-A (R) CNS depressant with significant abuse potential Drug abuse Sx: Mild euphoria relaxation mild amnesia sedation slurred speech dec. RR, BP, HR
Indications:
Akathisis
Propanolol - beta blocker
Hemiballismus
contralateral sub-thalmic nucleus
damage MC due to lacunar stroke
classic patient that has lacunar stroke
long-standing poorly controlled HTN
Subthalamic nucleus is located:
ventral to the thalamus, superior to the internal capsule
Wing-beating tremor
Psychosis
Cirrhosis
Kayser-Fleischer rings in cornea
Wilson Disease: Lentiform nucleus (globus pallidus + putamen)
a pure motor or pure sensory deficit would be expected to be localized at _____
the internal capsule= when perf. A are obstructed
Thalamic syndrome
burning on one half of the body post thalamic stroke
“Red Neuron”
Transient severe ischemia, hypoxia, toxicity damage that leads to neuronal cell death
Not seen with normal aging - that would be apoptosis
MCC of metabolic encephalopathy
hypoglycemia
hyperglycemia
hepatic encephalopathy (ammonia toxicity)
Lisch nodules
Hamartomas of the iris: NF-1
Hamartomas of the cornea: Wilson Disease
Nml division of the prosencephalon
5th week of development
Holoprosencephaly is associated with what three conditions:
Trisomy 13 (Patau's syndrome) Trisomy 18 (Edward's Syndrome) FAS
loss of GABA in the brain
HDx
NO in the brain has a unique job - what is it?
formation of new memories - communication between FC, hippocampus, hypothal, cerebellum, olfactory bulb
HDx gene - chr.?
4
Indications:
Absence Sz
Tonic-clonic Sz
In children
Valproate
Indications:
Absence Sz in children
Ethosuximide
VSCC - T- Type (-)
Indications:
Tonic-Clonic Sz
Status Epilepticus
Phenytoin
VSSC (-)
Indications
tonic-clonic Sz
Phenobarbitol
Indications:
Complex Partial Sz
Tonic-Clonic
Adverse Effect?
Carbamazepine
AE: Agranulocytosis, Aplastic Anemia
Drugs that cause agranulocytosis
Clozipine
Carbamazepine
Drugs that cause Aplastic anemia
Carbamazepine
Ischemic-Hypoxic encephalopathy (aka global cerebral ischemia)
You are going to hit your watershed zones and those will go ischemic first.
Borders between the ACA, MCA, and PCA.
ACA-MCA watershed: Frontal lobe about 15 degrees from midline
MCA - PCA watershed: posterior temporal lobe between the occipital/ temporal lobes
these will display wedge shaped infarcts
Loss of O2 to the brain for:
A. 5-10 sec. B. 1+ min. C. 4-5 min. D. Areas hit first E. Areas hit second
A. LOC (syncope) B. stop neuron activity C. permanent damage D. Most sensitive cell groups: Purkinje cell layer of the cortex (5,6), purkinje layer of the cerebellum, and the pyramidal cells of the hippocampus. E. Watershed zones
mu (R) traits
- physical dependence
- Euphoria
- Respiratory and cardiac depression
- Sedation
Kappa (R) traits
Miosis
dysphoria
sedation
delta (R) traits
Anti-depressant effects
Nociception/ orphanin (N/OFQ)
Anxiolysis
Increased appetite
Naloxone
pure -opioid receptor antagonist with the greatest affect at mu (R)
used to pull people off of opioid overdose
Reversal seen in min.
duration is dose-dependent (keep them on a drip - you don’t need them to go back under because the drug hasn’t cleared yet)
It must be given IV because it is inactivated in the liver
Hexamethonium
potent nicotinic receptor antagonist
Phencyclidine (PCP)
Hallucinogen: NMDA (R) (-) = excess relase of (+) NT Sx: Agitation DISSOCIATION: Medium dose VIOLENT BEHAVIOR: High dose
PE:
NYSTAGMUS
ataxia
memory loss
Cocaine
Stimulant: (-) catecholamine reuptake Sx: Euphoria Increased arousal agitation CHEST PAIN HA SEIZURES
PE: Tachycardia HTN MYDRIASIS the word is longer, so its a blown pupil
MI/Stroke: Serious complications due to severe vasoconstriction
Acute intoxication lasts for less than 1 hour.
Methamphetamine
Stimulant: intoxication lasts 20 minutes (longer than PCP) Sx: agitation PSYCHOSIS diaphoresis violent behavior
PE: Tooth decay HTN Tachycardia Choreiform movement
LSD
Hallucinogen Very unpredictable drug Sx: VISUAL HALLUCINATIONS depersonalization Euphoria occasional dysphoria panic
PE:
Mild tachycardia
mild HTN
ALERT AND ORIENTED
Marijuana
Psychoactive Drug Sx: increased appetite euphoria slowed reflexes impaired time perception
PE:
Dry mouth
conjunctival injection
mild tachycardia
Heroin
Opioid Analgesic: Sx: Mild euphoria lethargy coma
PE:
MIOSIS
DECREASED RR - life threatening
DECREASED BOWEL SOUNDS
Don’t be fooled - the BP/HR can be NML to low
Somatozation Dx
Somatoform Ds Pts. with numerous physical complaints over the course of years with no physical cause. Must have started prior to 30yo significant impact on social/occupational Fx Must have at least: - 4 pain symptoms - 2 GI symptoms - 1 sexual problem - 1 pseudoneurologic Sx
Ptosis, Miosis, Anhydrosis, Enophthalmos
Horner’s Syndrome
Ipsilateral interruption of SNS due to impingement (i.e. tumors in the apex of the lung (adenocarcinoma), Pancoast tumors):
1. Partial Ptosis due to denervation of the SNS controlled Muller muscle of the upper eyelid
2. Miosis: SNS fibers are interrupted on their way to the dilator pupillage muscle, = unopposed PSNS
3. anhydrosis: impaired sweating due to no SNS innervation to face
4. enophthalmos - opposite of exophthalmos
With further invasion/ compression, there will be impingement of the brachial plexus = ipsilateral shoulder and arm pain
Compression of the SCA = UE edema
Ipsilateral paralysis of: soft palate pharynx larynx hoarseness dysarthria dysphagia loss of gag reflex
CN X compression
synaptophysin
protein on pre-synaptic vesicles of neurons, neuroendocrine, and neuroectodermal cells.
CNS tumors will frequently stain (+) for:
Synaptophysin
Glial CNS tumors will always stain (+) for:
GFAP (+)
astrocytomas
ependymomas
oligodendrogliomas
sudden onset left eye pain that has lasted for 30 minutes then resolved spontaneously.
+
Jaw pain that starts in the middle of a meal
Giant Cell Temporal Arteritis
will cut off circulation to the working muscles of mastication (and tongue claudication is actually a thing)
presents in the elderly
MC Sx: HA
scalp tenderness, especially during hair combing
inflamed temporal artery can sometimes be palpated as firm painful subcutaneous cord in the temporal region
50%: polymyalgia rheumatica that is worse in the mornings
When the suspicion is high - check ESR, if elevated - DO NOT WAIT FOR BIOPSY - START ON PREDNISONE LEST THEY LOSE AN EYE.
The ESR will always be high
Jaw claudication +
ESR > 1000mm/hr
giant cell temporal arteritis
delirium
acute onset mental status change in the setting of a medical condition
- causes global memory impairment with fluctuations of consciousness.
When considering delirium as a DDx look for things that would either (a) change the electrolyte balance (i.e. dialysis) or (b) infection
ADx
irreversible and progressive memory loss that leads to compromise in all facets of life.
this will develop over the course of years
Remote memory is initially spared, and there is never a loss of consciousness
breif psychotic disorder
pschyotic symptoms that last for a few hours - month
the patient will return to the same pre-morbid state that he was once the episode concludes
Vascular dementia
(aka Multi-infarct dementia)
Additive effects will have (+) focal neurologic deficits
Delirium vs. Dementia
Onset: Acute Vs. Gradual
Consciousness: Impaired vs. intact
Course: Waxing and Waning vs. additive and progressive
Prognosis: reversible vs. irreversible
Memory impairment: global vs. remote memory is spared
On Histology:
- cell body rounding
- displacement of nuclei
- dispersion of the Nissl Substance
what happened?
axonal section and reaction
when an axon is severed there is “Wallerian degeneration”: degeneration of axon and myelin distal and proximal to the site of injury
Wallerian degeneration
- occurs where a segment of axon is separated from the soma
- 1- swelling and irregularity in the distal axon
- 2- w/in 1 week the axon is destroyed
- 3- fragments are digested by schwann cells and M0
this degeneration is bidirectional
What changes occur in the neuronal cell body seen after an axonal section?
AXONAL REACTION
- cellular edema
- swollen, rounded, with the nucleus displaced to the periphery
- Nissl substance becomes fine, granular, and is dispersed throughout the cytoplasm (aka central chromatolysis)
When does “axonal reaction” become visible
24-48 hrs post injury
Maximal changes in the neuronal body occur ~ 12 days post-injury.
this increased change represents a high turn over of protein in order to regenerate the axon.
irreversible cell injury will be seen as__?
Hypoxia/ ischemia/ toxic injury will show:
- shrunken cell
- pyknotic nucleus
- deeply eosinophilic cytoplasm
- LOSS of Nissl substance
in terms of nissl substance, how can you differentiate an axonal reaction vs. apoptosis due to ischemic cell injury?
the nissl substance is lost in ischemic injury. it is just disbanded in axonal injury
loss of size and number of neurons would indicate that there was___?
compression atrophy
mass affect, ICP
infarcts of the anterior pons will affect what tracts?
corticospinal (pyramidal) tracts
corticobulbar tracts
pontine nuclei and pontocerebellar fibers
damage to the corticospinal tracts at the level of the pons =
CL hemiparesis and (+) babinski sign
damage to the corticobulbar tract
CL facial palsy and dysarthria
damage to the pontine and pontocerebellar fibers during damage to the pons
Ataxic hemiparesis:
- CL dysmetria
- CL dysdiadochokinesisa
part of cerebellar processes
difference between a lesion in the cerebellum and the pons?
in the cerebellum = ipsilateral deficit
in the pons = contralateral deficit at the basis pontis because at this level the fibers enter the cerebellum enter via the CL peduncle
what is the only CN that will present with a contralateral deficit?
the trochlear nerve - the only once to decussate before innervating its target.
Causes of Conductive hearing loss
- Cerumen impaction
- Cholesteatoma
- Otosclerosis
- External or middle ear tumors
- Tympanic membrane rupture
- severe otitis media
Causes of senorineural hearing loss
- congenital
- Meniere’s Dx
- ototoxic drugs
(i. e. aminoglycosides)
ototoxic drugs
Aminoglycosides
Abnormal rinne test means that:
bone > air
conductive hearing loss
Abnormal Weber Test
the sound will localize to the affected ears, instead of being even in both ears:
conductive
Conductive hearing loss
a problem in the sound transduction mechanism, but not reception.
causes lateralization to the affected are as the conduction deficit masks the ambient noise in the room
sensorineural hearing loss
will cause laterlization to the unaffected ear as the unimpaired inner ear can better sense the vibration
Low Potency Typical Antipsychotic medication:
Sedation (H1 block)
Anti-ACh effects (ACh block)
Orthostatic Hypo-TN (alpha-1 block)
Ex:
Chlorpromazine
Thiroidazine
High Potency Typical Antipsychotic drugs:
EPSx: Due to D2 block Acute Dystonia Akathisia Akinesia Parkinsonism
Ex:
Haloperidol
Fluphenazine
Hyperglycemia as an anti-psychotic Rx - Most likely what class?
Atypical
it is the most with Olanzapine
tabes dorsalis
due to tertiary neurosyphilis
occurs in < 10%
longest latency period, occurring 20-30 years post primary infection
spirochetes target the sensory dorsal roots, and eventually demyelinate and cause axonal damage in the DCML
Lancinating pains paresthesias loss of vibratory and position sense arreflexia Argyll Robertson pupils (+) romberg sign
Loss of proprioception is compensated by visual cues - however with loss of night time vision - there will be stumbling
argyll robertson pupils
HIGHLY SPECIFIC SIGN FOR NEUROSYPHILIS
pupils that are non-reactive to light but will constrict during accommodation
Meckel’s diverticulum: Cause
how many GI layers
Failure to obliterate the omphalomesteric duct.
Has all three layers:
Mucosa, Submucosa, and Muscularis
Meckel’s diverticulum: MC presentation
Painless Melena or with intestinal obstruction that causes RLQ pain
Bloody stools that are dark are due to the gastric acid that is being secreted into the lower GI tract (where it doesn’t belong)
An inflamed Meckel’s diverticulum can mimic___
Appendicitis
colicky Abd. pain
“Red Current Jelly Stools”
Intussusception
Imperforate anus
Failure of Hindgut formation/ malformation
Neonate
failure to pass meconium
Bilious vomiting
Abd. distention
Hirschprung’s Disease
MC Rx that cause ED
SSRIs SNS blockers (clonidine, methyldopa, BB)
MC traumatic causes that lead to ED
Recent pelvic trauma
Prostate surgery
Priapism
MC met to the ovary
Gastric CA
“Krukenburg Tumor”
Krukenburg tumor
Sister-Mary-Joseph Nodule
Virchow’s node
Metastasis of Gastric CA
Periodic, Non-peristaltic contractions of the esophagus
Diffuse Esophageal Spasm (DES)
Several segments will contract at the same time, preventing peristalsis
Often painful (can mimic angina pectoris). Differentiated because the chest pain is not associated with exertion, and is not resolved by rest.
Pleuritic Chest pain
coughing
dyspnea
hemoptysis
PE
RUQ pain
Radiation to back/neck
worse with meals
cholecystitis
may also see:
fever
nausea
vomiting
Hydrocele
Collection of peritoneal fluid within the tunica vaginalis
the peritoneal tissue = processus vaginalis - if this fails to obliterate = increased risk for hydrocele that can even move up into the abdomen
HNPCC I vs. II
HNPCC I: Adenocarcinoma of the colon < 50 yo
HNPCC II: HNPCC I that can co-present (in same person or in family tree) with endometrial and ovarian CA, Stomach CA, Pancreatic CA, or urothelial tract + others
Cirrhosis
Kayser-Fleisher Rings
CNS involvement
Wilson’s disease
cirrhosis pancreatic fibrosis DM cardiomyopathy secondary hypogonadism
Hemochromatosis
Urinary Retention Prolonged QRS/QT interval SZs Orthostatic Hypotension Tyramine Reaction Sedation Depression Rx
TCADs
clomipramine has a high side effect of:
SZs
it is a TCAD
patient is admitted for \_\_\_\_ badness\_\_\_. next day presents with: - disorientation - abdominal distention - flapping tremor (asterixis) - gynecomastia - decreased liver span
Hepatic encephalopathy
What mediates all the symptoms of Hep. B infection, EXCEPT the hepatic s/sx
Immune complex deposition
sterility thick mucous in lungs pancreatic insufficiency Mucous plugging of biliary ducts (leads to obstructive biliary cirrhosis), and salivary ducts Frequent URIs Bilateral sinusitis Nasal polyps
CF
Calcinosis Raynaud's (can lead to fingertip ulceration) Esophageal dymotility Sclerodactyly Telangeictasia
CREST Syndrome
(+) anti-mitochondrial Ab.
Systemic sclerosis that involves the skin of the face and fingers
CD4 cells are induced to produce tons of collagen = excessive tissue fibrosis
Esophageal dysmotility is a resutlt of atrophy and fibrous replacement of esophageal muscles, and the LES will become atonic and dilated = severe reflux
Hepatomegaly
Abdominal pain
Ascites
Liver is grossly swollen, reddish purple with a TENSE capsule
Budd-Chiari Syndrome
Severe centrilobular congestion and necrosis are present
we are really worried about these patients getting in any hard contact in the liver = can break the capsule = hemorrhage
Normal liver with signs of portal HTN
pre-cirrhotic pathology
clot in the portal vein before the liver.
Ascites is uncommon, but esophageal ruptured varices are common
Fibrates inhibit what enzyme
7-alha-hydroxylase
inhibits the production of cholesterol to bile salts, which has the potential to lead to cholesterol stones
epigastric pain
vomiting
EtOH in PSH
DDx: Pancreatic pseudocyst
MCL:
MCL: lesser peritoneal sac - bordered by the stomach, duodenum and transverse colon.
it will be posterior to the stomach