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