Classic Presentations Flashcards by caleb cadis

Classic presentation

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

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Classic presentation

Achilles Tendon xanthoma

Familial Hypercholesterolemia ( \/ LDL receptor signaling)

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Classic presentation

Adrenal hemorrorhage, hypotension, DIC

Waterhous-Friderichsen syndrome (meningococcemia)

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Classic presentation

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan’s syndrome (fibrilin defect)

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Classic presentation

Athlete with polycythemia

Erythropoetin injection

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Classic presentation

Back pain, fever, night sweats, weight loss

Pott’s disease (vertebral tuberculosis)

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Classic presentation

Bilateral hilar adenopathy, uveitis

Sarcoidosis ( noncaseating granulomas)

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Classic presentation

Blue sclera

Osteogenesis imperfecta (collagen defect)

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Classic presentation

Bluish line on gingiva

Burton’s line (lead poisoning)

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Classic presentation

Bone pain, bone enlargement, arthitis

Paget’s disease of bone (/\ osteoblastic and osteoclastic activity)

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Classic presentation

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

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Classic presentation

“Butterfly” facial rash and Raynaud’s phenomenon in young female

SLE (Systemic Lupus Erythematosus)

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Classic presentation

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

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

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Classic presentation

Calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene

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Classic presentation

“Cherry-red spot” on macula

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

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Classic presentation

Chest pain on exertion

Angina (stable: moderate exertion; unstable: minimal exertion)

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Classic presentation

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

Dressler;s syndrome (Autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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Classic presentation

Child uses arms to stand up from squat

Gower’s sign (Duchenne muscular dystrophy)

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Classic presentation

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

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

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Classic presentation

Chorea, dementia, caudate degeneration

Huntington’s disease (Auto DOMINANT CAG repeat expansion)

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Classic presentation

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

McArdle’s disease (muscle glycogen phosphorylase deficiency)

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Classic presentation

Cold intolerance

Hypothyroidism

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Classic presentation

Conjugate lateral gaze palsy, horizontal diplopia

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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Classic presentation

Continuous “machinery” heart murmur

PDA (close with indomethacin; open with misoprostol)

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# Classic presentation Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Grave's disease [periorbital])

# Classic presentation Dark purple skin/mouth nodules

Kaposi's sarcoma (usually AIDS patients [gay men]: a/w HHV-8)

# Classic presentation Deep, labored breathing/hyperventilation

Kussmaul breathing (diabetic ketoacidosis)

# Classic presentation Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

# Classic presentation Dilated cardiomyopathy, edema, polyneuropathy

Wet beriberi (thiamine [vitamin B1] deficiency)

# Classic presentation Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

# Classic presentation Dry eyes, dry mouth, arthritis

Sjogren's syndrome (autoimmune destruction of exocrine glands)

# Classic presentation Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

# Classic presentation Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (type III collagen defect)

# Classic presentation Enlarged, hard left supraclavicular node

Virchow's node (abdominal metastasis)

# Classic presentation Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungiodes

# Classic presentation Facial muscle spasm upon tapping

Chvostek's sign (HYPOcalcemia)

# Classic presentation Fat, female, forty, and fertile

Acute cholelithiasis (bile duct blockage)

# Classic presentation Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Jarisch-Herxheimer reaction (rapid lysis of sprichetes results in toxin release)

# Classic presentation Fever, cough, conjectivitis, coryza, diffuse rash

Measles (Morbillivirus)

# Classic presentation Fever, night sweats, weight loss

B symptoms (lymphoma)

# Classic presentation Fibrous plaques in soft tissue of penis

Peyronie's disease (connective tissue disorder)

# Classic presentation Gout, mental retardation, self-mutilation behavior in a boy

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

# Classic presentation Green-yellow rings around peripheral cornea

Kayser-Fleischer rings (copper accumulations from Wilson's disease)

# Classic presentation Hamartomous GI polyps, hyperpigmentation of mouth/feet/hands

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; /\ cancer risk)

# Classic presentation Hepatosplenomegaly, osteoporosis (bone crises), neurologic symptoms, macrophages that look like crumpled tissue paper

Gaucher's disease (glucocerebrosidase deficiency) the most common lysosomal storage disease

# Classic presentation Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutations in Alpha chain of collagen IV)

# Classic presentation Hypercoagulability (leading to migrating DVT's and vasculitis)

Trousseau's syndrome (adenocarcinoma of pancrease or lung)

# Classic presentation Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

# Classic presentation Hypertension, hypokalemia, metab olic alkalosis

Conn's syndrome

# Classic presentation Hyporeflexia, hypotonia, atrophy

LMN damage

# Classic presentation Hypoxemia, polycythemia, hypercapnia

"blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

# Classic presentation Indurated, ulcerated genital lesion

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

# Classic presentation Infant with failure to thrive, hepatosplenomagaly, neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

# Classic presentation Infant with hypoglycemia, failure to thrive, and hepatomegaly

Cori's disease (debranching enzyme deficiency)

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

Edward's syndrome (trisomy 18)

# Classic presentation Keratin pearls on a skin biopsy

Squamous cell carcinoma

# Classic presentation Large rash with bull's-eye appearance

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

# Classic presentation Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

# Classic presentation Male child, reccurent infections, no mature B cells

Bruton's disease (X-linked agammaglobulinemia)

# Classic presentation Mucosal bleeding and prolonged bleeding time

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

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

Gardner's syndrome (subtype of FAP)

# Classic presentation Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)

# Classic presentation Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

Wegener's (c-ANCA +) and Goodpasture;s syndromes (anti-basement membrane antibodies)

# Classic presentation Neonate with arm paralysis following difficult birth

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

# Classic presentation No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarction)

# Classic presentation Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

# Classic presentation Oscilating slow/fast breathing

Cheyne-Stokes respirations (central apnea in CHF or /\ intracranial pressure)

# Classic presentation Painful blue fingers/toes, hemolytic anemia

Cold agglutinin disease (autoimmune hymolytic anemia caused by Mycoplasma pneumoniase, infectious mononucleosis)

# Classic presentation Painful, pale, cold fingers/toes

Raynaud's syndrome (vasospasm in extremities)

# Classic presentation Painful, raised red lesions on palms and soles

Osler's node (infective endocarditis)

# Classic presentation PainLESS erythematous lesions on palms and soles

Janeway lesions (infective endocarditis)

# Classic presentation Painless jaundice

Cancer of the Pancreatic head obstructing bile duct

# Classic presentation Palpable purpura on butt/legs, joint pain, abdominal pain (child)

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

# Classic presentation Pancreatic, pituitary, parathyroid tumors

MEN 1 (auto DOMINANT)

# Classic presentation Pink complexion, dyspnea, hyperventilation

"pink puffer" (emphysema: centrolobular [smoking], panacinar [alpha1-antitrypsin deficiency])

# Classic presentation Polyuria, renal tubular acidosis type II, growth fa ilure, | electrolyte imbalances, hypophosphatem ic rickets

Fanconi's syndrome (proximal tubular reabsorption defect)

# Classic presentation Posistive anterior "drawer sign"

Anterior cruciate ligament (ACL) injury

# Classic presentation Ptosis, miosis, anhidrosis

Horner's syndrome (sympathetic chain lesion)

Classic Presentations Flashcards

Classic presentation (78 cards)