Rapid Review-Classic Presentations

Front 1

Clinical Presentation:
Abdominal pain, ascites, hepatomegaly

Back 1

Diagnosis/Disease:
Budd-Chaiari syndrome (posthepatic venous thrombosis)

Front 2

Clinical Presentation:
Achilles tendon xanthoma

Back 2

Diagnosis/Disease:
Familial hypercholesterolemia (decrease LDL receptor signaling)

Front 3

Clinical Presentation:
Adrenal hemorrhage, hypotension, DIC

Back 3

Diagnosis/Disease:
Waterhouse-Friderichsen syndrome (meningococcemia)

Front 4

Clinical Presentation:
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Back 4

Diagnosis/Disease:
Marfan's syndrome (fibrillin defect)

Front 5

Clinical Presentation:
Athlete wiht polycythemia

Back 5

Diagnosis/Disease:
Erythropoietin injection

Front 6

Clinical Presentation:
Back pain, fever, night sweats, weight loss

Back 6

Diagnosis/Disease:
Pott's disease (vertebral tuberculosis)

Front 7

Clinical Presentation:
Bilateral hilar adenopathy, uveitis

Back 7

Diagnosis/Disease:
Sarcoidosis (noncaseating granulomas)

Front 8

Clinical Presentation:
Blue sclera

Back 8

Diagnosis/Disease:
Osteogenesis imperfecta (collagen defect)

Front 9

Clinical Presentation:
Bluish line on gingiva

Back 9

Diagnosis/Disease:
Burton's line (lead poisoning)

Front 10

Clinical Presentation:
Bone pain, bone enlargement, arthritis

Back 10

Diagnosis/Disease:
Paget's disease of bone (increase osteoblastic and osteoclastic activity)

Front 11

Clinical Presentation:
Bounding pulses, diastolic heart murmur, head bobbing

Back 11

Diagnosis/Disease:
Aortic regurgitation

Front 12

Clinical Presentation:
"Butterfly" facial rash and Raynaud's phenomenon in a young female

Back 12

Diagnosis/Disease:
Systemic lupus erythematosus (SLE)

Front 13

Clinical Presentation:
Cafe-au-lait spots, Lisch nodules (iris hamartoma)

Back 13

Diagnosis/Disease:
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)

Front 14

Clinical Presentation:
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

Back 14

Diagnosis/Disease:
McCune-Albright syndrome (mosaic G-protein signaling mutation)

Front 15

Clinical Presentation:
Cal pseudohypertrophy (fat and connective tissue in calf)

Back 15

Diagnosis/Disease:
Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene

Front 16

Clinical Presentation:
"Cherry-red spot" on macula

Back 16

Diagnosis/Disease:
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

Front 17

Clinical Presentation:
Chest pain on exertion

Back 17

Diagnosis/Disease:
Angina (stable; moderate exertion; unstable: minimal exertion)

Front 18

Clinical Presentation:
Chest pain, pericardial effusion/friction rub, persistent fever following MI

Back 18

Diagnosis/Disease:
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

Front 19

Clinical Presentation:
Child uses arms to stand up from squat

Back 19

Diagnosis/Disease:
Gower's sign (Duchenne muscular dystrophy)

Front 20

Clinical Presentation:
Child with fever develops red rash on face that spreads to body

Back 20

Diagnosis/Disease:
"slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)

Front 21

Clinical Presentation:
Chorea, dementia, caudate degeneration

Back 21

Diagnosis/Disease:
Huntington's disease (autosomal-dominant CAG repeat expansion)

Front 22

Clinical Presentation:
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Back 22

Diagnosis/Disease:
McArdle's disease (muscle glycogen phosphorylase deficiency

Front 23

Clinical Presentation:
Cold intolerance

Back 23

Diagnosis/Disease:
Hypothyroidism

Front 24

Clinical Presentation:
Conjugate lateral gase palsy, horizontal diplopia

Back 24

Diagnosis/Disease:
Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis],unilateral [stroke])

Front 25

Clinical Presentation:
Continuous "machinery" heart murmur

Back 25

Diagnosis/Disease:
PDA (close with indomethacin; open wiht misoprostol)

Front 26

Clinical Presentation:
Cutaneous/dermal edema due to connective tissue deposition

Back 26

Diagnosis/Disease:
Myxedema (caused by hypothyroidism, Graves' disease [periorbital])

Front 27

Clinical Presentation:
Dark purple skin/mouth nodules

Back 27

Diagnosis/Disease:
Kaposi's Sarcoma (usually AIDS patients [gay dudes]: associated with HHV-8)

Front 28

Clinical Presentation:
Deep, labored breathing/hyperventilation

Back 28

Diagnosis/Disease:
Kussmaul breathing (diabetic ketoacidosis)

Front 29

Clinical Presentation:
Dermatitis, dementia, diarrhea

Back 29

Diagnosis/Disease:
Pellagra (niacin [vitamin B3] deficiency)

Front 30

Clinical Presentation:
Dilated cardiomyopathy, edema, polyneuropathy

Back 30

Diagnosis/Disease:
Wet beriberi (thiamine [vitamin B1] deficiency)

Front 31

Clinical Presentation:
Dog or cat bite resulting in infection

Back 31

Diagnosis/Disease:
Pasteurella multocida (cellulitis at inoculation site)

Front 32

Clinical Presentation:
Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Back 32

Diagnosis/Disease:
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Front 33

Clinical Presentation:
Elastic skin, hypermobility of joints

Back 33

Diagnosis/Disease:
Ehlers-Danlos syndrome (type III collagen defect)

Front 34

Clinical Presentation:
Enlarged, hard left supraclavicular node

Back 34

Diagnosis/Disease:
Virchow's node (abdominal metastasis)

Front 35

Clinical Presentation:
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Back 35

Diagnosis/Disease:
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

Front 36

Clinical Presentation:
facial muscle spasm upon tapping

Back 36

Diagnosis/Disease:
Chvostek's sign (hypocalcemia)

Front 37

Clinical Presentation:
Fat, femal, forty, and fertile

Back 37

Diagnosis/Disease:
Acute cholelithiasis (bile duct blockage)

Front 38

Clinical Presentation:
Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Back 38

Diagnosis/Disease:
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

Front 39

Clinical Presentation:
Fever, cough, conjunctivitis, coryza, diffuse rash

Back 39

Diagnosis/Disease:
Measles (Morbillivirus)

Front 40

Clinical Presentation:
Fever, night sweats, weight loss

Back 40

Diagnosis/Disease:
B symptoms (lymphoma)

Front 41

Clinical Presentation:
Fibrous plaques in soft tissue of penis

Back 41

Diagnosis/Disease:
Peyronie's disease (connective tissue disorder)

Front 42

Clinical Presentation:
Gout, mental retardation, self-mutilating behavior in a boy

Back 42

Diagnosis/Disease:
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

Front 43

Clinical Presentation:
Green-yellow rings around peripheral cornea

Back 43

Diagnosis/Disease:
Kayser-Fleischer rings (copper accumulation from Wilson's disease)

Front 44

Clinical Presentation:
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Back 44

Diagnosis/Disease:
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)

Front 45

Clinical Presentation:
Hepatosplenomegaly, osteoporosis, neurologic symptoms

Back 45

Diagnosis/Disease:
Gaucher's disease (glucocerebrosidase deficiency)

Front 46

Clinical Presentation:
Hereditary nephritis, sensorineural hearing loss, cataracts

Back 46

Diagnosis/Disease:
Alport syndrome (mutation in alpha chain of collagen IV)
"can't see, can't pee, can't hear"

Front 47

Clinical Presentation:
Hypercoagulability (leading to migrating DVTs and vasculitis)

Back 47

Diagnosis/Disease:
Trousseau's sign (adenocarcinoma of pancreas or lung)

Front 48

Clinical Presentation:
Hyperphagia, hypersexuality, hyperorality, hyperdocility

Back 48

Diagnosis/Disease:
Kluver-Bucy syndrome (bilateral amygdala lesion)

Front 49

Clinical Presentation:
Hyperreflexia, hypertonia, positive Babinski sign

Back 49

Diagnosis/Disease:
UMN damage

Front 50

Clinical Presentation:
Hypertension, hypokalemia, metabolic alkalosis

Back 50

Diagnosis/Disease:
Conn's syndrome

Front 51

Clinical Presentation:
Hyporeflexia, hypotonia, atrophy

Back 51

Diagnosis/Disease:
LMN damage

Front 52

Clinical Presentation:
Hypoxemia, polycythemia, hypercapnia

Back 52

Diagnosis/Disease:
"Blue bloater" (chronic bronchitis; hyperplasia of mucous cells)

Front 53

Clinical Presentation:
Indurated, ulcerated genital lesion

Back 53

Diagnosis/Disease:
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)

Front 54

Clinical Presentation:
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Back 54

Diagnosis/Disease:
Niemann-Pick disease (genetic sphingomyelinase deficiency)

Front 55

Clinical Presentation:
Infant with hypoglycemia, failure to thrive, and hepatomegaly

Back 55

Diagnosis/Disease:
Cori's disease (debranching enzyme deficiency)

Front 56

Clinical Presentation:
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Back 56

Diagnosis/Disease:
Edwards' syndrome (trisomy 18)

Front 57

Clinical Presentation:
Keratin pearls on a skin biopsy

Back 57

Diagnosis/Disease:
squamous cell carcinoma

Front 58

Clinical Presentation:
Large rash with bull's-eye appearance

Back 58

Diagnosis/Disease:
Erythema chronicum migrans from Ixodes tick bite (lyme disease: Borrelia)

Front 59

Clinical Presentation:
Lucid interval after traumatic brain injury

Back 59

Diagnosis/Disease:
Epidural hematoma (middle meningeal artery rupture)

Front 60

Clinical Presentation:
Male child, recurrent infections, no mature B cells

Back 60

Diagnosis/Disease:
Burton's disease (X-linked agammaglobulinemia)

Front 61

Clinical Presentation:
Mucosal bleeding and prolonged bleeding time

Back 61

Diagnosis/Disease:
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Front 62

Clinical Presentation:
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Back 62

Diagnosis/Disease:
Gardner's syndrome (subtype of FAP)

Front 63

Clinical Presentation:
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Back 63

Diagnosis/Disease:
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)

Front 64

Clinical Presentation:
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

Back 64

Diagnosis/Disease:
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)

Front 65

Clinical Presentation:
Neonate with arm paralysis following difficult birth

Back 65

Diagnosis/Disease:
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury; "waiter's tip")

Front 66

Clinical Presentation:
No lactation postpartum, absent menstruation, cold intolerance

Back 66

Diagnosis/Disease:
Sheehan's syndrome (pituitary infarction)

Front 67

Clinical Presentation:
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Back 67

Diagnosis/Disease:
Multiple sclerosis

Front 68

Clinical Presentation:
Oscillating slow/fast breathing

Back 68

Diagnosis/Disease:
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

Front 69

Clinical Presentation:
Painful, pale, cold fingers/toes

Back 69

Diagnosis/Disease:
Raynaud's syndrome (vasospasm in extremities)

Front 70

Clinical Presentation:
Painful, raised red lesions on palms and soles

Back 70

Diagnosis/Disease:
Osler's node (infective endocarditis)

Front 71

Clinical Presentation:
Painless erythematous lesions on palms and soles

Back 71

Diagnosis/Disease:
Janeway lesions (infective endocarditis)

Front 72

Clinical Presentation:
Panless jaundice

Back 72

Diagnosis/Disease:
Cancer of the pancreatic head obstructing bile duct

Front 73

Clinical Presentation:
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)

Back 73

Diagnosis/Disease:
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

Front 74

Clinical Presentation:
Pancreatic, pituitary, parathyroid tumors

Back 74

Diagnosis/Disease:
MEN 1 (autosomal dominant)

Front 75

Clinical Presentation:
Pink complexion, dyspnea, hyperventilation

Back 75

Diagnosis/Disease:
"Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency)

Front 76

Clinical Presentation:
Polyuria, acidosis, growth failure, electrolyte imbalances

Back 76

Diagnosis/Disease:
Fanconi's syndrome (proximal tubular reabsorption defect)

Front 77

Clinical Presentation:
Positive anterior "drawer sign"

Back 77

Diagnosis/Disease:
Anterior cruciate ligament (ACL) injury

Front 78

Clinical Presentation:
Ptosis, miosis, anhidrosis

Back 78

Diagnosis/Disease:
Horner's syndrome (sympathetic chain lesion)

Front 79

Clinical Presentation:
Pupil accommodates but doesn't react

Back 79

Diagnosis/Disease:
Argyll Robertson pupil (neurosyphilis) (prostitute's pupil)

Front 80

Clinical Presentation:
Rapidly progressive leg weakness that ascends (following GI/URI)

Back 80

Diagnosis/Disease:
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

Front 81

Clinical Presentation:
Rash on palms and soles

Back 81

Diagnosis/Disease:
Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever

Front 82

Clinical Presentation:
Recurrent colds, unusual eczema, high serum IgE

Back 82

Diagnosis/Disease:
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)

Front 83

Clinical Presentation:
Red "currant jelly" sputum in alcoholic or diabetic patients

Back 83

Diagnosis/Disease:
Klebsiella pneumoniae

Front 84

Clinical Presentation:
Red, itchy, swollen rash of nipple/areola

Back 84

Diagnosis/Disease:
Paget's disease of the breast (represents underlying neoplasm)

Front 85

Clinical Presentation:
Red urine in the morning, fragile RBCs

Back 85

Diagnosis/Disease:
Paroxysmal nocturnal hemoglobinuria

Front 86

Clinical Presentation:
Renal cell carcinoma (bilateral); hemangioblastomas, angiomatosis, pheochromocytoma

Back 86

Diagnosis/Disease:
von Hibbel-Lindau disease (dominant tumor suppressor gene mutation)

Front 87

Clinical Presentation:
Resting tremor, rigidity, akinesia, postural instability

Back 87

Diagnosis/Disease:
Parkinson's disease (nigrostriatal dopamine depletion)

Front 88

Clinical Presentation:
Retinal hemorrhages with pale centers

Back 88

Diagnosis/Disease:
Roth's spots (bacterial endocarditis)

Front 89

Clinical Presentation:
Severe jaundice in neonate

Back 89

Diagnosis/Disease:
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Front 90

Clinical Presentation:
Severe RLQ pain with rebound tenderness

Back 90

Diagnosis/Disease:
McBurney's sign (appendicitis)

Front 91

Clinical Presentation:
Short stature, increased incidence of tumors/leukemia, aplastic anemia

Back 91

Diagnosis/Disease:
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)

Front 92

Clinical Presentation:
Single palm crease

Back 92

Diagnosis/Disease:
Simian crease (Down syndrome)

Front 93

Clinical Presentation:
Situs inversus, chronic sinusitis, bronchiectasis, infertility

Back 93

Diagnosis/Disease:
Kartagener's syndrome (dynein arm defect affecting cilia)

Front 94

Clinical Presentation:
Skin hyperpigmentation

Back 94

Diagnosis/Disease:
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)

Front 95

Clinical Presentation:
Slow, progressive muscle weakness in boys

Back 95

Diagnosis/Disease:
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)

Front 96

Clinical Presentation:
Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Back 96

Diagnosis/Disease:
Koplik spots (measles; rubeola virus)

Front 97

Clinical Presentation:
Smooth, flat, moist white lesions on genitals

Back 97

Diagnosis/Disease:
Condylomata lata (secondary syphilis)

Front 98

Clinical Presentation:
Splinter hemorrhages in fingernails

Back 98

Diagnosis/Disease:
Bacterial endocarditis

Front 99

Clinical Presentation:
"strawberry tongue"

Back 99

Diagnosis/Disease:
Scarlet fever, Kawasaki disease, toxic shock syndrome

Front 100

Clinical Presentation:
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth

Back 100

Diagnosis/Disease:
Turner syndrome (45XO, short stature, webbed neck, lymphedema)

Front 101

Clinical Presentation:
Sudden swollen/painful big toe joint, tophi

Back 101

Diagnosis/Disease:
Gout/podagra (hyperuricemia)

Front 102

Clinical Presentation:
Swollen gums, mucous bleeding, poor wound healing, spots on skin

Back 102

Diagnosis/Disease:
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

Front 103

Clinical Presentation:
Swollen, hard, painful finger joints

Back 103

Diagnosis/Disease:
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])

Front 104

Clinical Presentation:
Systolic ejection murmur (crescendo-decrescendo)

Back 104

Diagnosis/Disease:
Aortic valve stenosis

Front 105

Clinical Presentation:
Thyroid and parathyroid tumors, pheochromocytoma

Back 105

Diagnosis/Disease:
MEN 2A (autosomal dominant ret mutation)

Front 106

Clinical Presentation:
Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Back 106

Diagnosis/Disease:
MEN2B (autosomal dominant ret mutation)

Front 107

Clinical Presentation:
Toe extension/fanning upon plantar scrape

Back 107

Diagnosis/Disease:
Positive Babinski sign (UMN lesion)
(normal in infants)

Front 108

Clinical Presentation:
Unilateral facial drooping involving forehead

Back 108

Diagnosis/Disease:
Bell's palsy (LMN CN VII palsy)

Front 109

Clinical Presentation:
Urethritis, conjunctivitis, arthritis in a male

Back 109

Diagnosis/Disease:
Reactive arthritis associated with HLA-B27

Front 110

Clinical Presentation:
Vascular birthmark (port-wine stain)

Back 110

Diagnosis/Disease:
Hemangioma (benign, but associated with Sturge-Weber syndrome)

Front 111

Clinical Presentation:
Vomiting blood following esophagogastric lacerations

Back 111

Diagnosis/Disease:
Mallory-Weiss syndrome (alcoholic and bulimic patients)

Front 112

Clinical Presentation:
"Waxy" casts with very low urine flow

Back 112

Diagnosis/Disease:
Chronic end-stage renal disease

Front 113

Clinical Presentation:
WBC casts in urine

Back 113

Diagnosis/Disease:
Acute pyelonephritis

Front 114

Clinical Presentation:
Weight loss, diarrhea, arthritis, fever, adenopathy

Back 114

Diagnosis/Disease:
Whipple's disease (Tropheryma whippelii)

Front 115

Clinical Presentation:
"worst headache of my life"

Back 115

Diagnosis/Disease:
Subarachnoid hemorrhage