Classic Presentations - Rapid Review

Front 1

Abdominal pain, ascites, hepatomegaly

Back 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Front 2

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

Back 2

Clostridium difficile infection

Front 3

Achilles tendon xanthoma

Back 3

Familial hypercholesterolemia (decreased LDL receptor signaling)

Front 4

Adrenal hemorrhage, hypotension, DIC

Back 4

Waterhouse-Friderichsen syndrome (meningococcemia)

Front 5

Anaphylaxis following blood transfusion

Back 5

IgA deficiency

Front 6

Anterior "drawer sign" ⊕

Back 6

Anterior cruciate ligament injury

Front 7

Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

Back 7

Marfan syndrome (fibrillin defect)

Front 8

Athlete with polycythemia

Back 8

2° to erythropoietin injection

Front 9

Back pain, fever, night sweats

Back 9

Pott disease (vertebral TB)

Front 10

Bilateral acoustic schwannomas

Back 10

Neurofibromatosis type 2

Front 11

Bilateral hilar adenopathy, uveitis

Back 11

Sarcoidosis (noncaseating granulomas)

Front 12

Black eschar on face of patient with diabetic ketoacidosis

Back 12

Mucor or Rhizopus fungal infection

Front 13

Blue sclera

Back 13

Osteogenesis imperfecta (type I collagen defect)

Front 14

Bluish line on gingiva

Back 14

Burton line (lead poisoning)

Front 15

Bone pain, bone enlargement, arthritis

Back 15

Paget disease of bone (increased osteoblastic and osteoclastic activity)

Front 16

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

Back 16

Aortic regurgitation

Front 17

"Butterfly" facial rash and Raynaud phenomenon in a young female

Back 17

Systemic lupus erythematosus

Front 18

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

Back 18

Neurofibromatosis type I

Front 19

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Back 19

McCune-Albright syndrome (mosaic G-protein signaling mutation)

Front 20

Calf pseudohypertrophy

Back 20

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

Front 21

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

Back 21

Kawasaki disease (treat with IVIG and aspirin)

Front 22

"Cherry-red spots" on macula

Back 22

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

Front 23

Chest pain on exertion

Back 23

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

Front 24

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

Back 24

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

Front 25

Chest pain with ST depressions on EKG

Back 25

Unstable angina (troponins − ) or NSTEMI (troponins +)

Front 26

Child uses arms to stand up from squat

Back 26

Duchenne muscular dystrophy (Gowers sign)

Front 27

Child with fever later develops red rash on face that spreads to body

Back 27

Erythema infectiosum/fifth disease ("slapped cheeks" appearance, caused by parvovirus B19)

Front 28

Chorea, dementia, caudate degeneration

Back 28

Huntington disease (autosomal dominant CAG repeat expansion)

Front 29

Chorioretinitis, hydrocephalus, intracranial calcifications

Back 29

Congenital toxoplasmosis

Front 30

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Back 30

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

Front 31

Cold intolerance

Back 31

Hypothyroidism

Front 32

Conjugate horizontal gaze palsy, horizontal diplopia

Back 32

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

Front 33

Continuous "machine-like" heart murmur

Back 33

PDA (close with indomethacin; keep open with PGE analogs)

Front 34

Cutaneous/dermal edema due to connective tissue deposition

Back 34

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

Front 35

Cutaneous flushing, diarrhea, bronchospasm

Back 35

Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)

Front 36

Dark purple skin/mouth nodules in a patient with AIDS

Back 36

Kaposi sarcoma, associated with HHV-8

Front 37

Deep, labored breathing/hyperventilation

Back 37

Diabetic ketoacidosis (Kussmaul respirations)

Front 38

Dermatitis, dementia, diarrhea

Back 38

Pellagra (niacin [vitamin B3] deficiency)

Front 39

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Back 39

Wet beriberi (thiamine [vitamin B1] deficiency)

Front 40

Dog or cat bite resulting in infection

Back 40

Pasteurella multocida (cellulitis at inoculation site)

Front 41

Dry eyes, dry mouth, arthritis

Back 41

Sjögren syndrome (autoimmune destruction of exocrine glands)

Front 42

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Back 42

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Front 43

Elastic skin, hypermobility of joints, increased bleeding tendency

Back 43

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

Front 44

Enlarged, hard left supraclavicular node

Back 44

Virchow node (abdominal metastasis)

Front 45

Episodic vertigo, tinnitus, hearing loss

Back 45

Meniere disease

Front 46

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Back 46

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)

Front 47

Facial muscle spasm upon tapping

Back 47

Chvostek sign (hypocalcemia)

Front 48

Fat, female, forty, and fertile

Back 48

Cholelithiasis (gallstones)

Front 49

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Back 49

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)

Front 50

Fever, cough, conjunctivitis, coryza, diffuse rash

Back 50

Measles

Front 51

Fever, night sweats, weight loss

Back 51

B symptoms (staging) of lymphoma

Front 52

Fibrous plaques in soft tissue of penis with abnormal curvature

Back 52

Peyronie disease (connective tissue disorder)

Front 53

Golden brown rings around peripheral cornea

Back 53

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

Front 54

Gout, intellectual disability, self-mutilating behavior in a boy

Back 54

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

Front 55

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

Back 55

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

Front 56

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

Back 56

Gaucher disease (glucocerebrosidase deficiency)

Front 57

Hereditary nephritis, sensorineural hearing loss, cataracts

Back 57

Alport syndrome (mutation in collagen IV)

Front 58

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Back 58

Klüver-Bucy syndrome (bilateral amygdala lesion)

Front 59

Hyperreflexia, hypertonia, Babinski sign present

Back 59

UMN damage

Front 60

Hyporeflexia, hypotonia, atrophy, fasciculations

Back 60

LMN damage

Front 61

Hypoxemia, polycythemia, hypercapnia

Back 61

Chronic bronchitis (hyperplasia of mucous cells, "blue bloater")

Front 62

Indurated, ulcerated genital lesion

Back 62

*Nonpainful: chancre (1° syphilis, Treponema pallidum)
*Painful, with exudate: chancroid (Haemophilus ducreyi)

Front 63

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Back 63

Patau syndrome (trisomy 13)

Front 64

Infant with hypoglycemia, hepatomegaly

Back 64

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

Front 65

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

Back 65

Edwards syndrome (trisomy 18)

Front 66

Jaundice, palpable distended non-tender gallbladder

Back 66

Courvoisier sign (distal malignant obstruction of biliary tree)

Front 67

Large rash with bull's-eye appearance

Back 67

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

Front 68

Lucid interval after traumatic brain injury

Back 68

Epidural hematoma (middle meningeal artery rupture)

Front 69

Male child, recurrent infections, no mature B cells

Back 69

Bruton disease (X-linked agammaglobulinemia)

Front 70

Mucosal bleeding and prolonged bleeding time

Back 70

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Front 71

Muffled heart sounds, distended neck veins, hypotension

Back 71

Beck triad of cardiac tamponade

Front 72

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

Back 72

Gardner syndrome (subtype of FAP)

Front 73

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Back 73

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

Front 74

Neonate with arm paralysis following difficult birth

Back 74

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

Front 75

No lactation postpartum, absent menstruation, cold intolerance

Back 75

Sheehan syndrome (pituitary infarction)

Front 76

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Back 76

Multiple sclerosis

Front 77

Painful blue fingers/toes, hemolytic anemia

Back 77

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)

Front 78

Painful fingers/toes changing color from blue to white to red with cold or stress

Back 78

Raynaud phenomenon (vasospasm in extremities)

Front 79

Painful, raised red lesions on pads of fingers/toes

Back 79

Osler nodes (infective endocarditis, immune complex deposition)

Front 80

Painless erythematous lesions on palms and soles

Back 80

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

Front 81

Painless jaundice

Back 81

Cancer of the pancreatic head obstructing bile duct

Front 82

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

Back 82

Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)

Front 83

Pancreatic, pituitary, parathyroid tumors

Back 83

MEN 1 (autosomal dominant)

Front 84

Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia

Back 84

Nephrotic syndrome

Front 85

Pink complexion, dyspnea, hyperventilation

Back 85

Emphysema ("pink puffer," centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])

Front 86

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

Back 86

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

Front 87

Pruritic, purple, polygonal planar papules and plaques (6 P's)

Back 87

Lichen planus

Front 88

Ptosis, miosis, anhidrosis

Back 88

Horner syndrome (sympathetic chain lesion)

Front 89

Pupil accommodates but doesn't react

Back 89

Neurosyphilis (Argyll Robertson pupil)

Front 90

Rapidly progressive limb weakness that ascends following GI/upper respiratory infection

Back 90

Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

Front 91

Rash on palms and soles

Back 91

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

Front 92

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

Back 92

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

Front 93

Red "currant jelly" sputum in alcoholic or diabetic patients

Back 93

Klebsiella pneumoniae pneumonia

Front 94

Red "currant jelly" stools

Back 94

Acute mesenteric ischemia (adults), intussusception (children)

Front 95

Red, itchy, swollen rash of nipple/areola

Back 95

Paget disease of the breast (sign of underlying neoplasm)

Front 96

Red urine in the morning, fragile RBCs

Back 96

Paroxysmal nocturnal hemoglobinuria

Front 97

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

Back 97

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

Front 98

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

Back 98

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

Front 99

Retinal hemorrhages with pale centers

Back 99

Roth spots (bacterial endocarditis)

Front 100

Severe jaundice in neonate

Back 100

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Front 101

Severe RLQ pain with palpation of LLQ

Back 101

Rovsing sign (acute appendicitis)

Front 102

Severe RLQ pain with deep tenderness

Back 102

McBurney sign (acute appendicitis)

Front 103

Short stature, café au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

Back 103

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

Front 104

Single palmar crease

Back 104

Down syndrome

Front 105

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Back 105

Kartagener syndrome (dynein arm defect affecting cilia)

Front 106

Skin hyperpigmentation, hypotension, fatigue

Back 106

1° adrenocortical insufficiency (e.g., Addison disease) causes increased ACTH and increased α-MSH production

Front 107

Slow, progressive muscle weakness in boys

Back 107

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

Front 108

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

Back 108

Koplik spots (measles [rubeola] virus)

Front 109

Smooth, moist, painless, wart-like white lesions on genitals

Back 109

Condylomata lata (2° syphilis)

Front 110

Splinter hemorrhages in fingernails

Back 110

Bacterial endocarditis

Front 111

"Strawberry tongue"

Back 111

Scarlet fever, Kawasaki disease

Front 112

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

Back 112

Turner syndrome (45,XO)

Front 113

Sudden swollen/painful big toe joint, tophi

Back 113

Gout/podagra (hyperuricemia)

Front 114

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Back 114

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

Front 115

Swollen, hard, painful finger joints

Back 115

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

Front 116

Systolic ejection murmur (crescendo-decrescendo)

Back 116

Aortic stenosis

Front 117

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

Back 117

Osler-Weber-Rendu syndrome

Front 118

Thyroid and parathyroid tumors, pheochromocytoma

Back 118

MEN 2A (autosomal dominant RET mutation)

Front 119

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Back 119

MEN 2B (autosomal dominant RET mutation)

Front 120

Toe extension/fanning upon plantar scrape

Back 120

Babinski sign (UMN lesion)

Front 121

Unilateral facial drooping involving forehead

Back 121

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

Front 122

Urethritis, conjunctivitis, arthritis in a male

Back 122

Reactive arthritis associated with HLA-B27

Front 123

Vascular birthmark (port-wine stain) of the face

Back 123

Nevus flammeus (benign, but associated with Sturge-Weber syndrome)

Front 124

Vomiting blood following gastroesophageal lacerations

Back 124

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Front 125

Weight loss, diarrhea, arthritis, fever, adenopathy

Back 125

Whipple disease (Tropheryma whipplei)

Front 126

"Worst headache of my life"

Back 126

Subarachnoid hemorrhage