Rapid Review Classic Presentations Fa 2011

Front 1

Abdominal pain, ascites, hepatomegaly

Back 1

Budd-Chiari syndrome(posthepatic venous thrombosis)

Front 2

Achilles tendon xanthoma

Back 2

Familial Hypercholestrolemia

Front 3

Adrenal hemorrhage, hypotension, DIC

Back 3

waterhouse-fridericksen syndrome(secondary to neisseria meningitidis infection)

Front 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

genetic inheritance?

Back 4

Marfan's Syndrome(fibrillin defect)

autosomal dominant

Front 5

Athlete with polycythemia

Back 5

Erythropoietin injection

Front 6

lower Back pain, fever, night sweats, weight loss

Back 6

Pott's disease(vertebral tuberculosis)

haematogenous spread of tuberculosis from other sites, often pulmonary
Back pain = THORACOLUMBAR

Front 7

Bilateral hilar adenopathy, uveitis(iris, ciliary body, choroid)

Back 7

Sarcoidosis(non-caseating granulomas)

Front 8

Blue Sclera

Back 8

Osteogenesis Imperfecta(Type I collagen defect)

OI Type I is autosomal dominant
OI Type II is fatal in the neonatal period

Type I Collagen - Present in Bones, Skin, Tendon, Cornea, Dentin, late wound repair

As such symptoms present with Blue Sclera(connective tissue translucence due to crappy collagen), Brittle Bones, Dental Imperfections, and hearing loss(middle ear bones crappy)

Front 9

Bluish line on gingiva

Back 9

Burton's line(lead poisoning)

Front 10

Bone pain, bone enlargement, arthritis

Back 10

Paget's Disease of bone(increased osteoblastic and osteoclastic activity)

Front 11

Paget's Disease associations

Back 11

Thought to be associated with paramyxovirus, increased serum calcium, phosphorus and PTH. Also, increased Alk Phos. Mosaic Bone Pattern; long bone chalk-stick fractures.

Increased blood flow from increased AV shunts in bone may cause high output heart failure. Can also lead to osteogenic sarcoma.

Front 12

Bounding pulses, diastolic heart murmur, head bobbing

Back 12

Aortic regurgitation

Bounding pulse is a medical sign characterized as a leaping and forceful pulse that quickly disappears.

In aortic insufficiency (AI), when the pressure in the left ventricle falls below the pressure in the aorta, the aortic valve is not able to completely close. This causes a leaking of blood from the aorta into the left ventricle. This means that some of the blood that was already ejected from the heart is regurgitating back into the heart.

Front 13

Cafe-au-lait spots, Lisch Nodules(iris hamartoma)

Back 13

Neurofibromatosis Type I(Also associated with skeletal disorders(scoliosis) and optic pathway gliomas

Front 14

Cafe-au-lait spots, polyostotic fibrous dypslasia(a form of dysplasia affecting more than one bone), precocious puberty

Back 14

McCune-Albright Syndrome (mosaic G protein signaling mutation)

Front 15

Calf pseudohypertrophy

Back 15

Muscular Dystrophy(most commonly Duchenne's)

Front 16

"Cherry-red spot" on macular

Back 16

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

Front 17

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

Back 17

Dressler's Syndrome(autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

Front 18

Child uses arms to stand up from squat

Back 18

Gower's Sign(Duchenne muscular dystrophy; X-linked recessive deleted dystrophin gene)

Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal lamina (extracellular matrix) through a protein complex containing many subunits
The absence of dystrophin permits excess calcium to penetrate the sarcolemma (cell membrane). Alterations in these signalling pathways cause water to enter into the mitochondria which then burst. In skeletal muscle dystrophy, mitochondrial dysfunction gives rise to an amplification of stress-induced cytosolic calcium signals and an amplification of stress-induced reactive-oxygen species (ROS) production. In a complex cascading process that involves several pathways and is not clearly understood, increased oxidative stress within the cell damages the sarcolemma and eventually results in the death of the cell. Muscle fibers undergo necrosis and are ultimately replaced with adipose and connective tissue.

Front 19

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

Back 19

"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus b19)

Front 20

Chorea, dementia, caudate degeneration

genetic inheritance?

Back 20

Huntington's Disease(autosomal-dominant CAG repeat expansion)

Front 21

Chronic exercise intolerance with myalgia, fatigue, painful cramps

Back 21

McArdle's disease(muscle glycogen phosphorylase deficiency)

Myophosphorylase is the form of the glycogen phosphorylase found in muscle. Myophosphorylase is involved in the breakdown of glycogen to glucose for use in muscle. The enzyme removes 1,4 glycosyl residues from outer branches of glycogen and adds inorganic phosphate to form glucose-1-phosphate. Cells form glucose-1-phosphate instead of glucose during glycogen breakdown because the polar, phosphorylated glucose cannot leave the cell membrane and so is marked for intracellular catabolism.

Front 22

Cold Intolerance

Back 22

Hypothyroidism

Front 23

Conjugate lateral gaze palsy, horizontal diplopia

Back 23

Internuclear ophthalmoplegia
(damage to MLF, which connects CN III and CN VI)

unilateral condition probably due to stroke.
***bilateral condition A/W multiple sclerosis

When looking to the left, the left nucleus of CN VI fires, which contracts the left lateral rectus and stimulates the contralateral(right) nucleus of CN III via the right MLF to contract the right medial rectus

Front 24

Continuous "machinery" heart murmur

close with?
open with?

Back 24

PDA(close with indomethacin, a prostaglandin inhibitor; open with misoprostol, a prostaglandin analogue)

Front 25

Cutaneous/dermal edema due to connective tissue deposition

Back 25

Myxedema (hypothyroidism, Grave's disease)

connective tissue deposition: glycosaminoglycans, hyaluronic acid, and other mucopolysaccharides

Front 26

Dark purple skin/mouth nodules

Back 26

Kaposi's sarcoma(usually AIDS patients[gay men]: associated with HHV-8)

Front 27

Deep, labored breathing/hyperventilation

Back 27

Kussmaul breathing (diabetic ketoacidosis)

Front 28

Dermatitis, Dementia, diarrhea

Back 28

Pellagra(niacin [Vitamin B3] deficiency)

Front 29

Dilated cardiomyopathy, edema, polyneuropathy

Back 29

Wet beriberi (Thiamine[vitamin B1] deficiency)

Front 30

Dog or cat bite resulting in infection

Back 30

Pasteurella Multocida(cellulitis at inoculation site)

Front 31

Dry eyes, dry mouth, arthritis

Back 31

Sjogren's syndrome (autoimmune destruction of exocrine glands)

-- can lead to dental carries, "dust in eye"

Front 32

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Back 32

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

Front 33

Elastic skin, hypermobility of joints

Back 33

Ehler Danlos syndromes (colalgen defect, usually type III)

Type III collagen(Reticulin) -- early granulation tissue, blood vessels

Front 34

Enlarged, hard left supraclavicular node

Back 34

Virchow's node(abdominal metastasis)

Front 35

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Back 35

Sezary syndrome (Cutaneous T-cell lymphoma) or mycosis fungoides

Front 36

Facial muscle spasm upon tapping

Back 36

Chvostek's sign(hypocalcemia)

Front 37

Fat, female, forty, fertile

Back 37

Acute cholelithiasis

Front 38

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

Back 38

Jarisch-Herxheimer reaction -- rapid lysis of spirochete results in toxin release

Front 39

Fever, cough, conjunctivitis, coryza, diffuse rash

Back 39

Measles(Paramyxovirus-Morbillivirus)

Front 40

Fever, night sweats, weight loss

Back 40

B cell lymphoma symptoms

Front 41

Fibrous plaques in soft tissue of penis

Back 41

Peyronie's Disease

Front 42

Gout, mental retardation, self-mutilating behavior in boy

Back 42

Lesch-Nyhan Syndrome (HGPRT deficiency, X-linked) - Decreased purine salvage

Front 43

Green-yellow rings around peripheral cornea

Back 43

Kayser-Fleisher Rings - copper accumulation from Wilson's disease

Front 44

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Back 44

Peutz-Jeghers Syndrome(genetic benign polyposis can cause bowel obstruction; increase cancer risk)

Front 45

Hepatosplenomegaly, osteoporosis, neurologic symptoms(mostly in type II)

Back 45

Gaucher's disease (glucocerebrosidase deficiency)

Front 46

Hereditary nephritis, sensorineural hearing loss, cataracts

Back 46

Alport's syndrome(Type IV collagen mutation)

Front 47

Hypercoagulability (leading to migrating DVTs and vasculitis)

Back 47

Trousseau's Sign (adenocarcinoma of pancreas or lung)

Front 48

Hyperphagia, Hypersexuality, Hyperorality, Hyperdocility

Back 48

Kluver-Bucy syndrome (bilateral amygdala lesion)

Front 49

Hypertension, Hypokalemia, metabolic alkalosis

Back 49

Conn's Syndrome(primary hyperaldosteronism)

Front 50

Hypoxemia, polycythemia, hypercapnia

Back 50

Diffusion disorder - "Blue Bloater" from chronic bronchitis leading to hyperplasia of mucous cells

Front 51

Indurated, ulcerated genital lesion

Back 51

Nonpainful: chancre(Primary syphilis from Treponema Pallidum, a spirochete)
Painful, with exudate: chancroid(Haemophilus Ducreyi)

Front 52

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Back 52

Niemann-Pick disease(genetic sphingomyelinase deficiency)

Front 53

Infant with hypoglycemia, failure to thrive and hepatomegaly

Back 53

Cori's disease(debranching enzyme deficiency)

Front 54

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

Back 54

Edward's Syndrome(Trisomy 18)

Front 55

Jaundice, RUQ pain, fever

Back 55

Charcot's Triad(ascending cholangitis)

Front 56

Keratin pearls on a skin biopsy

Back 56

Squamous cell carcinoma(lung or cervix)

Front 57

Large rash with bull's-eye appearance

Back 57

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

Front 58

Lucid interval after traumatic bgrain injury

Back 58

Epidural hematoma(middle meningeal artery rupture)

Front 59

Male child, recurrent infections, no mature B cells

Back 59

Bruton's disease(X-linked agammaglobulinemia)

Front 60

Mucosal bleeding and prolonged bleeding time

Back 60

Glanzmann's Thrombasthenia(defective platelet aggregation due to lack of GP IIb/IIIa)

Front 61

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

Back 61

Gardner's Syndrome(subtype of FAP)

Front 62

Necrotizing vasculitis(lungs), and necrotizing glomerulonephritis

Back 62

Wegener's(c-ANCA) and Goodpastures(anti-basement membrane antibodies)

Front 63

Neonate with arm paralysis following difficult birth

Back 63

Erb-Duchenne palsy(superior trunk[c5-c6] brachial plexus injury:"waiter's tip")

Front 64

No lactation postpartum, absent menstruation, cold intolerance

Back 64

Sheehan's syndrome(pituitary infarction)

Front 65

Nystagmus, intention tremor, scanning speech('other' Charcot's Triad), bilateral internuclear ophtalmoplegia

Back 65

Multiple Sclerosis

Front 66

Oscillating slow/fast breathing

Back 66

Cheyne-Stokes respirations(Central apnea in CHF or increased intracranial pressure)

Front 67

Painful blue fingers/toes, hemolytic anemia

Back 67

Cold agglutinin disease(autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono(EBV))

Front 68

Painful, pale, cold fingers/toes

Back 68

Raynaud's syndrome(vasospasm in extremities)

Front 69

painful, raised red lesions on palms and soles

Back 69

Osler's node(infective endocarditis)

Front 70

Painless erythematous lesions on palms and solesd

Back 70

Janeway lesions(infective endocarditis)

Front 71

Painless jaundice

Back 71

Cancer of the pancreatic head obstructing bile duct

Front 72

Palpable purpura, joint pain, abdominal pain(child)

Back 72

Henoch-Schonlein Purpura(IgA vasculitis affecting skin and kidneys)

Front 73

Pancreatic, pituitary, parathyroid tumors

Back 73

Wermer's Syndrome(MEN 1)

Front 74

Polyostic Fibrous dysplasia, precocious puberty, cafe au lait spots, short stature in a girl

Back 74

McCune Albright syndrome

Front 75

"currant jelly" stool

Back 75

intussusception

Front 76

Rusty colored sputum

Back 76

Strep Pneumoniae

Front 77

Pink complexion, dyspnea, hyperventilation

Back 77

"pink puffer"
emphysema: centroacinar[smoking], panacinar[alpha 1 antitrypsin deficiency])

Front 78

Polyuria, acidosis, growth failure, electrolyte imbalances

Back 78

Fanconi's Syndrome(proximal tubular reabsorption defect)

Front 79

Positive anterior "drawer's sign"

Back 79

Anterior cruciate ligament injury

Front 80

Ptosis, miosis, anhidrosis

Back 80

Horner's Syndrome(sympathetic chain lesion) (pancoast's tumor of the lung)

Front 81

Pupil accommodates but doesn't react

Back 81

Argyll Robertson pupil(neurosyphilis)

Prostitute's pupil

Front 82

Rapidly progressive leg weakness that ascends(following GI/upper respiratory infection), ascending motor paralysis

Back 82

Guillain-Barre syndrome
autoimmune acute inflammatory demyelinating polyneuropathy

Front 83

rash on palms and soles

Back 83

secondary syphilis, rocky mountain spotted fever, coxackievirus A(hand, foot mouth disease)

Front 84

recurrent colds, unusual eczema(TRUNKAL vs flexor), high serum IgE

Back 84

Job's syndrome(hyper-IgE syndrome: neutrophil chemotaxis abnormality)

Front 85

Red "currant jelly" sputum in alcoholic or diabetic patients

Back 85

Klebsiella pneumoniae

Front 86

red, itchy, swollen rash of nipple/areola

Back 86

Paget's disease of the breast(represents underlying neoplasm)

Front 87

Red urine in the morning, fragile RBC's

Back 87

Paroxysmal Nocturnal Hemoglobinuria
lack of CD55/CD59 DAF/MIRL

Front 88

Renal Cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma

Back 88

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

Front 89

Resting tremor, rigidity, akinesia, postural instability

Back 89

Parkinson's disease(nigrostriatal dopamine depletion)

Front 90

Restrictive cardiomyopathy(juvenile form: cardiomegaly), exercise intolerance

Back 90

Pompe's disease(lysosomal glucosidase deficiency)

Front 91

Retinal hemorrhages with pale centers

Back 91

Roth's spots(bacterial endocarditis)

Front 92

Severe jaundice in neonate

Back 92

Crigler-Najjar syndrome(congenital unconjugated hyperbilirubinemia)

Front 93

Severe RLQ pain with rebound tenderness

Back 93

McBurney's sign(appendicitis)

Front 94

Short stature, increased incidence of tumors/leukemia, aplastic anemia

Back 94

Fanconi's Anemia(genetically inherited; often progresses to AML)
defective DNA repair

Front 95

Single Palm crease

Back 95

Simian crease(down Syndrome)

Front 96

Situs inversus, chronic sinusitis, bronchiectasis

Back 96

Kartagener's Syndrome
Dynein defect in cilia

Front 97

Skin hyperpigmentation

Back 97

Addison's disease(primary adrenocortical insufficiency of autoimmune or infectious etiology)

Front 98

Slow, progressive muscle weakness in boys

Back 98

Becker's Muscular dystrophy(X-linked, defective dystrophin;less severe than Duchenne's)

Front 99

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

Back 99

Koplik spots(measles) - Cough, coriza, conjunctivitis, Koplik spots

Front 100

Smooth, flat, moist white lesions on genitals

Back 100

Condyloma Lata(secondary syphilis)

Front 101

Splinter hemorrhages on fingernails

Back 101

bacterial endocarditis

Front 102

"strawberry tongue"

Back 102

Scarlet fever, Kawasaki disease, toxic shock syndrome

Front 103

Streak ovaries, congenital heart disease(coarctation of aorta), horseshoe kidney

Back 103

Turner Syndrome(XO, short stature, webbed neck, lymphedema)

Front 104

Sudden swollen/painful big toe joint, tophi

Back 104

Gout/podagra(hyperuricemia)

Front 105

Swollen gums, mucous blereding, poor wound healing, spots on skin

Back 105

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

Front 106

Swollen, hard, painful finger joints

Back 106

Osteoarthritis(osteophytes on PIP[bouchard's nodes], DIP [Heberden's nodes])

Front 107

Systolic ejection murmur(crescendo-decrescendo)

Back 107

Aortic valve stenosis

Front 108

Medullary carcinoma of Thyroid and parathyroid tumors, pheochromocytoma

Back 108

Sipple's syndrome(MEN 2A)

Front 109

Toe extension/fanning upon plantar scrape

Back 109

Babinski's sign(UMN lesion)

Front 110

unilateral facial dropping involving forehead

Back 110

BEll's palsy(LMN CN VII palsy)

Front 111

urethritis, conjunctivitis, arthritis in a male

Back 111

Reiter's syndrome(reactive arthritis associated with HLA-B27)
"Can't see, can't pee, can't climb a tree"

Front 112

Vascular birthmark(port-wine stain)

Back 112

Hemangioma(benign, but a/w Sturge-Weber syndrome)--stays forever

Front 113

Vasculitis from exposure to endotoxin causing glomerular thrombosis

Back 113

Shwartzman reaction(following second exposure to endotoxin0

Front 114

Vomiting blood following esophagogastric lacerations

Back 114

Mallory-Weiss syndrome(alcoholic and bulimic patients)

Front 115

(made by renal tubule)"Waxy" casts with very low urine flow

Back 115

chronic end stage renal disease

Front 116

WBC casts in urine

Back 116

Acute pyelonephritis

Front 117

Weight loss, diarrhea, arthritis, fever, adenopathy

Back 117

Whipple's disease(Tropheryma Whippelii)

Front 118

"worst headache of my life"

Back 118

subarachnoid hemorrhage secondary to a berry aneurysm

Front 119

Bilateral facial drooping involving forehead

Back 119

Guillain Barre Syndrome or lyme disease(borrelia borgdorferi)

Front 120

WBC's in urine(NO CASTS)

Back 120

cystitis