Classic Presentations Flashcards
What is this presentation?
Abdominal pain, Ascites, Hepatosplenomegaly
Budd-Chiari (Post-hepatic venous thrombosis)
What is this presentation?
Achilles tendon xanthoma
Familial hypercholesterolemia
Deficient LDL receptor
What is this presentation?
Adrenal hemorrhage
Hypotension
DIC
Waterhouse-Friderichsen Syndrome
Meningococcemia
What is this presentation?
Arachnodactyly (long/slender fingers)
Lens dislocation
Aortic dissection
Hyperflexible joints
Marfan’s
Fibrillin defect
What is this presentation?
Athlete w/ polycythemia
Secondary to erythropoietin injection
What is this presentation?
Back pain
Fever
Night sweats
Weight loss
Pott’s disease
Vertebral tuberculosis
What is this presentation?
Bilateral hilar adenopathy
Uveitis
Sarcoidosis
Noncaseating granulomas
What is this presentation?
Blue sclera
Fractures
Osteogenesis Imperfecta
Type 1 collagen deffect
What is this presentation?
Bluish line on gingiva
Burton’s line
LEAD poisoning
What is this presentation?
Bone pain
Bone enlargement
Arthritis
Paget’s disease of bone
High osteoBLASTIC and osteoCLASTIC activity
What is this presentation?
Bounding pulses
Diastolic heart murmur
Head bobbing
Aortic regurgitation
What is this presentation?
Butterfly facial rash
Raynaud’s phenomenon
Young female
SLE
What is this presentation?
Cafe au lait spots
Iris harmatoma (Lisch nodules)
Pheochromocytoma
Optic gliomas
NF-1
What is this presentation?
Cafe au lait spots
Precocious puberty
Polyostotic fibrous dysplasia
Multiple endocrine abnormalities
McCune-Albright syndrome
Mosaic G protein signaling mutation
What is this presentation?
Calf pseudohypertrophy
Muscular dystrophy, usually Duchenne’s
X-linked recessive deletion of DYSTROPHIN
What is this presentation?
“Cherry red spot” on macula
Tay-Sachs: GM2 ganglioside accumulation or Neimann-Pick: Sphingomyelin accumulation or Central retinal artery occlusion
What is this presentation?
Chest pain on exertion
Angina
Stable: Moderate exertion
Unstable: Minimal exertion
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
What is this presentation?
Child uses arms to stand up from squat
Gower’s sign:
Duchenne’s muscular dystrophy
What is this presentation?
Child w/ fever later develops:
rash on face –> body
“Slapped cheeks”
Erythema infectiosum/fifth disease
Parvovirus B19
What is this presentation?
Chorea
Dementia
Caudate degeneration
Huntington’s disease
Autosomal DOMINANT CAG repeat expansion
What is this presentation?
Chronic exercise intolerance w/ Myalgia Fatigue Painful cramps Myoglobinuria
McArdle’s disease
Muscle glycogen phosphorylase deficiency
What is this presentation?
Cold intolerance
Hypothyroidism
What is this presentation?
Conjugate lateral gaze palsy
Horizontal diplopia
Internuclear ophthalmoplegia
(Damage to MLF)
Bilateral: MS
Unilateral: Stroke
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
MS
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