Classic Presentations Flashcards by Lauren V

What is this presentation?

Abdominal pain, Ascites, Hepatosplenomegaly

Budd-Chiari (Post-hepatic venous thrombosis)

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Achilles tendon xanthoma

Familial hypercholesterolemia

Deficient LDL receptor

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Adrenal hemorrhage
Hypotension
DIC

Waterhouse-Friderichsen Syndrome

Meningococcemia

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What is this presentation?

Arachnodactyly (long/slender fingers)
Lens dislocation
Aortic dissection
Hyperflexible joints

Marfan’s

Fibrillin defect

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What is this presentation?

Athlete w/ polycythemia

Secondary to erythropoietin injection

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What is this presentation?

Back pain
Fever
Night sweats
Weight loss

Pott’s disease

Vertebral tuberculosis

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Bilateral hilar adenopathy

Uveitis

Sarcoidosis

Noncaseating granulomas

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What is this presentation?

Blue sclera

Fractures

Osteogenesis Imperfecta

Type 1 collagen deffect

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Bluish line on gingiva

Burton’s line

LEAD poisoning

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Bone pain
Bone enlargement
Arthritis

Paget’s disease of bone

High osteoBLASTIC and osteoCLASTIC activity

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What is this presentation?

Bounding pulses
Diastolic heart murmur
Head bobbing

Aortic regurgitation

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What is this presentation?

Butterfly facial rash
Raynaud’s phenomenon
Young female

SLE

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What is this presentation?

Cafe au lait spots
Iris harmatoma (Lisch nodules)
Pheochromocytoma
Optic gliomas

NF-1

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What is this presentation?

Cafe au lait spots
Precocious puberty
Polyostotic fibrous dysplasia
Multiple endocrine abnormalities

McCune-Albright syndrome

Mosaic G protein signaling mutation

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What is this presentation?

Calf pseudohypertrophy

Muscular dystrophy, usually Duchenne’s

X-linked recessive deletion of DYSTROPHIN

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What is this presentation?

“Cherry red spot” on macula

Tay-Sachs: GM2 ganglioside accumulation
or
Neimann-Pick: Sphingomyelin accumulation
or
Central retinal artery occlusion

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What is this presentation?

Chest pain on exertion

Angina

Stable: Moderate exertion

Unstable: Minimal exertion

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What is this presentation?

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

Dressler’s syndrome
(FIBRINOUS PERICARDITIS)

Autoimmune-mediated post-MI
1-2 weeks afterward

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What is this presentation?

Child uses arms to stand up from squat

Gower’s sign:

Duchenne’s muscular dystrophy

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What is this presentation?

Child w/ fever later develops:
rash on face –> body

“Slapped cheeks”

Erythema infectiosum/fifth disease

Parvovirus B19

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What is this presentation?

Chorea
Dementia
Caudate degeneration

Huntington’s disease

Autosomal DOMINANT CAG repeat expansion

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What is this presentation?

Chronic exercise intolerance w/
Myalgia
Fatigue
Painful cramps
Myoglobinuria

McArdle’s disease

Muscle glycogen phosphorylase deficiency

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What is this presentation?

Cold intolerance

Hypothyroidism

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What is this presentation?

Conjugate lateral gaze palsy

Horizontal diplopia

Internuclear ophthalmoplegia
(Damage to MLF)

Bilateral: MS
Unilateral: Stroke

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# What is this presentation? Continuous "machinery" heart murmur

PDA CLOSE w/ INDOMETHACIN MAINTAIN OPEN w/ MISOPROSTOL

# What is this presentation? Cutaneous/dermal edema

Myxedema (CT deposition) Due to: Hypothyroidism Grave's disease (Pre-tiblal deposition)

# What is this presentation? Dark purple skin/mouth nodules

Kaposi's sarcoma | AIDS; associated w/ HHV-8, enveloped DNA virus

# What is this presentation? Kussmal breathing: Deep, labored breathing/hyperventilation

DKA (Diabetic ketoacidosis)

# What is this presentation? Dermatitis Dementia Diarrhea

Pellagra | B3/Niacin deficiency

# What is this presentation? Dilated cardiomyopathy Edema Alcoholism/malnutrition

Wet beri-beri | Thiamine/B1 deficiency

# What is this presentation? Dog or cat bite --> Infection | w/ cellulitis @ inoculation site

Pasteurella multocida | Gram NEGative, coccobacillus, penicillin-sensitive

# What is this presentation? Dry eyes Dry mouth Arthritis

Sjogren's syndrome | Autoimmune destruction of exocrine glands

# What is this presentation? Dysphagia (esophageal webs) Glossitis Iron deficiency anemia

Plummer-Vinson syndrome (Chronic Iron deficiency anemia--> Thin esophageal web growth) Can progress -->Esophageal SqCC

# What is this presentation? Elastic skin | Hypermobility of joints

Ehlers-Danlos | Type 3 collagen defect

# What is this presentation? Enlarged, hard Left supraclavicular node

Virchow's node | Abdominal metastasis

# What is this presentation? Erythroderma Lymphadenopathy Hepatosplenomegaly Atypical T cells

``` Sezary syndrome (Cutaneous T cell lymphoma= "Mycosis fungoides") ``` Tx: Sunlight exposure, steroids, chemo

# What is this presentation? Facial muscle spasm upon tapping

Chvostek's sign | HYPOcalcema

# What is this presentation? Fat Female Forty Fertile

Cholelithiasis | Gallstones

# What is this presentation? ``` Following ANTIBIOTIC TX for SYPHILLIS: Fever Chills Headache MYALGIA ```

Jarisch-Herxheimer reaction | Rapid lysis of spirochetes-->toxin release

# What is this presentation? ``` Fever Cough Conjunctivitis Coryza (nasal inflammation) Diffuse RASH ```

Measles (Morbillivirus)

# What is this presentation? Fever Night sweats Weight loss

B symptoms of lymphoma

# What is this presentation? Fibrous plaques in soft tissue of penis

Peyronie's disease | CT disorder

# What is this presentation? Boy Gout Mental retardation Self-mutilating behavior

Lesch-Nyhan (HGPRT deficiency-->Uric acid buildup) X linked

# What is this presentation? Green-yellow rings around peripheral cornea

Kayser-Fleischer rings: Wilson's disease | Copper accumulation

# What is this presentation? Harmatomatous GI polyps | Hyperpigmentation of mouth/hands/feet

Peutz-Jeghers syndrome (Inherited. GI cancer risk) Benign polyposis can cause GI obstruction

# What is this presentation? Hepatosplenomegaly Osteoporosis Neurologic symptoms

Gaucher's disease | Deficient glucocerebrosidase

# What is this presentation? Hereditary nephritis Sensorineural hearing loss Cataracts

Alport syndrome (Mutation in Alpha chain of collagen type 4)

# What is this presentation? Hyperphagia Hypersexuality Hyperorality

Kluver-Bucy syndrome | Bilateral amygdala lesion

# What is this presentation? Hyperreflexia Hypertonia Babinski's sign

UMN damage

# What is this presentation? Hyporeflexia Hypotonia Atrophy Fasiculations

LMN damage

# What is this presentation? Hypoxemia Polycythemia Hypercapnia (High CO2)

"Blue bloater" | Chronic bronchitis: Hyperplasia of mucous cells

# What is this presentation? Indurated, ulcerated genital lesion

Nonpainful: Chancre (primary syphillis: Treponema pallidum, gram NEG spirochete) Painful w/ exudate: Chancroid (Haemophilus ducreyi (fastidious gram NEG coccobacillus; chocolate agar; tx: macrolide & 3rd gen cephalosporin)

# What is this presentation? ``` Infant Cleft palate Microcephaly or Holoprosencephaly Polydactyly Cutis aplasia, absent skin/scars ```

Patau's (Trisomy 13)

# What is this presentation? Infant Failure to thrive Hepatosplenomegaly Neurodegeneration

Neimann-Pick disease (Sphingomyelinase deficiency, genetic) + cherry red spot on macula

# What is this presentation? Infant Hypoglycemia Failure to thrive Hepatomegaly

Cori's disease | Debranching enzyme deficiency

# What is this presentation? ``` Infant Microcephaly Rocker-bottom feet Clenched hands Structural heart defect ```

Edward's (Trisomy 18)

# What is this presentation? Jaundice | Palpable distended non-tender gallbladder

Courvoisier's sign | Distal obstruction of the biliary tree

# What is this presentation? Large rash w/ bull's eye appearance

Lyme disease (Ixodes tick bite: Borrelia) "Erythema chronicum migrans"

# What is this presentation? Lucid interval after TBI

Epidural hematoma | Middle meningial artery rupture

# What is this presentation? Male child Recurrent infections No mature B cells

Bruton's disease | X-linked agammaglobinemia

# What is this presentation? Mucosal bleeding | Prolonged bleeding time

Glanzmann's thrombasthenia (Defect in platelet aggregation due to lack of GP2b/3a)

# What is this presentation? Muffled heart sounds Distended neck veins Hypotension

Cardiac tamponade | Beck's triad

# What is this presentation? Multiple colon polyps Osteomas/soft tissue tumors Impacted/supernumerary teeth

Gardner's syndrome | Subtype of GAP

# What is this presentation? Myopathy (infantile hypertrophic cardiomyopathy) | Exercise intolerance

Pompe's: Glycogen storage disease 2 | Lysosomal a-1,4 glucosidase deficiency

# What is this presentation? Neonate w/ arm paralysis following difficult birth

Erb-Duchenne palsy (Waiter's tip) | C5-C6 brachial plexus injury

# What is this presentation? No lactation postpartum Absent menstruation Cold intolerance

Sheehan's syndrome (pituitary infarction)

# What is this presentation? Nystagmus Intention tremor Scanning speech Bilateral internuclear opthalmoplegia

# What is this presentation? Oscillating slow/fast breathing

Cheyne-Stoke's respirations (Central apnea in CHF or Increased ICP)

# What is this presentation? Painful blue fingers/toes | Hemolytic anemia

Cold agglutinin disease (Autoimmune when body is at low temps, IgM directed against RBC's --> hemolytic anemia) Caused by: Mycoplasma pneumoniae EBV

# What is this presentation? Painful, pale, cold fingers/toes

Raynaud's phenomenon | Vasospasm in extremities

# What is this presentation? PainFUL, raised red lesions of | finger pads and toes

Osler's node | Infective endocarditis; immune complex deposition

# What is this presentation? PainLESS erythematous lesions on palms and soles

Janeway lesions (Infective endocarditis Septic emboli/microabcesses)

# What is this presentation? Painless jaundice

Cancer of the pancreatic head --> Obstruction of the bile duct

# What is this presentation? Palpable purpura on buttocks/legs Joint pain Abdominal pain (child) Hematuria

Henoch-Schonlein purpura | IgA vasculitis affecting skin & kidneys

# What is this presentation? Tumors of: Pancreas Pituitary Parathyroid

MEN 1 (autosomal dominant)

# What is this presentation? Periorbital and/or peripheral edema Proteinuria Hypoalbuminemia Hypercholesterolemia

Nephrotic syndrome

# What is this presentation? Pink complexion Dyspnea Hyperventilation

"Pink puffer" Emphysemia Centriacinar: Smoking Panacinar: a1-antitrypsin deficiency

# What is this presentation? ``` Polyuria Renal tubular acidosis type 2 Growth failure Electrolyte imbalances Hypophosphatemic rickets ```

Fanconi's syndrome | Proximal tubule reabsorption defect

# What is this presentation? Positive "anterior drawer" sign

ACL (Anterior cruciate ligament) injury

# What is this presentation? Pruritic, purple, polygonal planar | papules and plaques (6 P's)

Lichen planus | Unknown pathology; Chronic mucucutaneous disease

# What is this presentation? Ptosis Miosis (pupil CONSTRICTION) Anhydrosis

Horner's Syndrome | Sympathetic chain lesion

# What is this presentation? Pupil accomodates but doesn't react

Argyll Robertson pupil | (Neuro Syphillis)

# What is this presentation? Rapidly progressive leg weakness that ASCENDS | following a GI infection

Guillan Barre (acute autoimmune inflammatory demyelinating polyneuropathy)

# What is this presentation? Rash on palms and soles

Coxsackie A Secondary syphillis Rocky Mountain spotted fever (tickborne Rickettsia rickettsii)

# What is this presentation? Recurrent colds Unusual eczema High serum IgE

Hyper-IgE syndrome (Job's Syndrome)... Neutrophil CHEMOTAXIS abnormality

# What is this presentation? Red "currant jelly" sputum | Alcoholic or diabetic patients

Klebsiella pneumoniae | Gram NEG, encapsulated, lactose fermenting

# What is this presentation? Red "currant jelly" stools

Acute mesenteric ischemia (adults) | Intussusception (infants)

# What is this presentation? Red, itchy, swollen rash of nipple/areola

Paget's disease of the breast | underlying ductal adenocarcinoma

# What is this presentation? Red urine in the morning | Fragile RBC's

Paroxysmal nocturnal hemoglobinuria | Complement-induced hemolytic anemia

# What is this presentation? Kidney: Renal cell carcinoma (bilateral) Hemangioblastomas Angiomatosis Pheochromocytoma

Von Hippel-Lindau disease | Dominant VHL tumor supressor mutation

# What is this presentation? Resting tremor Rigidity Akinesia Postural instability

Parkinson's | Substantia Nigra destruciton; dopamine loss

# What is this presentation? Retinal hemorrhages w/ pale centers

Roth's spots | Bacterial endocarditis

# What is this presentation? Severe jaundice in a neonate

Crigler-Najjar syndrome (Congenital UGT1A1 defect: UPD glucuronosyltransferase 1) High unconjugated bilirubin in serum

# What is this presentation? Severe RLQ pain w/ palpation of LLQ

Rovsing's sign | Acute appendicitis

# What is this presentation? Severe RLQ pain w/ rebound tenderness

McBurney's sign | Appendicitis

# What is this presentation? Short stature High incidence of tumors/leukemia Aplastic anemia

Fanconi's anemia (Genetic loss of DNA crosslink repair) Often progresses --> AML

# What is this presentation? Single palmar crease

Simian crease: Down's Syndrome

# What is this presentation? Situs inversus (mirrored organs) Chronic sinusitis Bronchiectasis Infertility

Kartagener's syndrome | dynein arm defect affecting cilia

# What is this presentation? Skin hyperpigmentation Hypotension Fatigue

Addison's disease (primary adrenocortical insufficiency --> High ACTH and high a-MSH production)

# What is this presentation? Slow, progressive muscle weakness in boys

Becker's muscular dystrophy (X-linked missense mutation in dystrophin) Less severe than Duchenne's

# What is this presentation? Small, irregular red spots with blue/white centers on buccal/lingual mucosa

Koplik spots | Measles: Rubeola paramyxovirus

# What is this presentation? Small, flat, moist, painless white lesions on genitals

Condylomata lata | secondary syphillis

# What is this presentation? Splinter hemorrhages in fingernails

Bacterial endocarditis

# What is this presentation? "Strawberry tongue"

Scarlet fever Kawasaki disease Toxic shock syndrome

# What is this presentation? ``` Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth (lymph lesion on jaw) Short stature Webbed neck Lymphedema ```

Turner's syndrome (45, XO)

# What is this presentation? Sudden swollen/painful big toe joint | Tophi

Gout/podagra | Hyperuricemia

# What is this presentation? Swollen gums, mucosal bleeding, poor wound healing, spots on skin

Scurvy | Vit C deficiency; can't hydroxylate proline/lysine for collagen synthesis

# What is this presentation? Swollen, hard, painful finger joints

Osteoarthritis Osteophytes on: PIP: Bouchard's nodes DIP: Heberden's nodes

# What is this presentation? Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

# What is this presentation? Tumors of: Thyroid Parathyroid Phenochromocytoma

MEN 2A | Autosomal DOMINANT Ret mutation

# What is this presentation? Tumors of: Thyroid Pheochromocytoma Ganglioneuromatosis

MEN 2B | Autosomal DOMINANT Ret mutation

# What is this presentation? Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

# What is this presentation? Unilateral facial drooping INVOLVING forehead

Facial nerve (LMN CN 7 palsy)

# What is this presentation? In a male: Urethritis Conjunctivitis Arthritis

Reactive arthritis | associated w/ HLA-B27

# What is this presentation? Vascular birthmark (port wine stain)

Hemangioma (benign) Associated w/ Sturge-Weber syndrome: glaucoma, seizures, mental retardation, ipsilateral leptomeningeal angioma

# What is this presentation? Vomiting blood after gastroesophageal lacerations

Mallory-Weiss syndrome (Tears at esophagus/stomach junction) From bulimia and alcoholism

# What is this presentation? ``` Weight loss Diarrhea Arthritis Fever Adenopathy ```

Whipple's disease | Tropheryma whipplei, gram POS actinobacteria, but found to be gram neg in lab staining

# What is this presentation? "Worst headache of my life"

Subarachnoid hemorrhage | often a ruptured aneurysm

Classic Presentations Flashcards

(118 cards)