Classic Presentations Flashcards by Hannah Dzimitrowicz

Budd-Chiari syndrome

posthepatic venous thrombosis (abdominal pain, ascites, hepatomegaly)

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Familial Hypercholesterolemia (decreased LDL receptor signaling)

achilles tendon xanthoma

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Waterhouse-Friderichsen Syndrome (meningococcemia)

adrenal hemorrhage, hypotension, DIC

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ACL injury

Anterior “drawer sign” +

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Marfan syndrome (fibrillin defect)

arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

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Secondary to erythropoietin injection

athlete with polycythemia

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Pott disease (vertebral TB)

Back pain, fever, night sweats, weight loss

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Sarcoidosis (noncaseating granulomas)

bilateral hilar adenopathy, uveitis

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Osteogenesis imperfecta (type I collagen defect)

blue sclera, multiple fractures

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Burton line (lead poisoning)

bluish line on gingiva

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Paget disease of bone (increased osteoblastic and osteoclastic activity)

bone pain, bone enlargement, arthritis

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Aortic regurgitation

bounding pulses, diastolic murmur, head bobbing

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Systemic Lupus Erythematosus

“butterfly” facial rash, Reynaud phenomenon in a young female

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Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)

Cafe-au-lait spots, Lisch nodules (iris hamartomas)

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McCune-Albright Syndrome (mosaic G protein signaling mutation)

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

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Muscular dystrophy (usually Duchenne); X-linked recessive deletion of dystrophin gene

calf pseudohypertrophy

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

Cherry red spots on macula

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

Chest pain on exertion

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

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

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Gower’s sign (Duchenne muscular dystrophy)

Child uses arms to stand up from squat

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“Slapped Cheeks” (erythema infectiousu/5th disease; parvovirus B19)

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

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Huntington disease (autosomal dominant CAG repeat expansion)

Chorea, dementia, caudate degeneration

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McArdle Disease (muscle glycogen phosphorylase deficiency)

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

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Hypothyroidism

Cold intolerance

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Internuclear ophthalmoplegia (damage to MLF; bilateral-MS; unilateral-stroke)

Conjugate lateral gaze palsy, horizontal diplopia

PDA (close with indomethacin; open or maintain with misoprostol)

Continuous "machine-like" heart murmur

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

Cutaneous/dermal edema due to connective tissue deposition

Kaposi sarcoma, associated with HHV8

dark purple skin/mouth nodules in a patient with AIDS

Kussmaul respirations (diabetic ketoacidosis)

deep, labored breathing/hyperventilation

Pellagra (niacin/Vit B3 deficiency)

dermatitis, dementia, diarrhea

Wet beriberi (thiamine/Vit B1 deficiency)

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Pasturella multocida (cellulitis at inoculation site)

dog or cat bite resulting in infection

Sjogren syndrome (autoimmune destruction of exocrine glands)

dry eyes, dry mouth, arthritis

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

dysphagia (esophageal webs), glossitis, iron deficiency anemia

Ehlers-Danlos syndrome (Type III collagen defect)

elastic skin, hypermobility of joints

Virchow node (abdominal metastasis)

enlarged, hard left supraclavicular node

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

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Chvostek sign (hypocalcemia)

facial muscle spasm upon tapping

Cholelithiasis (gallstones)

fat, female, 40, fertile

Jarish-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

fever, chills, headache, myalgia following antibiotic treatment for syphillis

Measles

fever, cough, coryza, conjunctivitis, diffuse rash

B symptoms (staging) of lymphoma

fever, night sweats, weight loss

Peryonie disease (connective tissue disorder)

fibrous plaques in soft tissue of penis

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

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

Kayser-Fleischer rings (copper accumulation from Wilson disease)

Green-yellow rings around peripheral cornea

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

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Gaucher disease (glucocerebrosidase deficiency)

hepatosplenomegaly, osteoporosis, neurologic symptoms

Alport syndrome (mutation in collagen IV)

hereditary nephritis, sensorineural hearing loss, cataracts

Kluver-Bucy syndrome (bilateral amygdala lesion)

hyperphagia, hypersexuality, hyperorality, hyperdocility

UMN damage

hyperreflexia, hypertonia, Babinski sign present

LMN damage

hyporeflexia, hypotonia, atrophy, fasciculations

"Blue bloater" (chronic bronchitis, hyperplasia of mucosal cells)

hypoxemia, polycythemia, hypercapnia

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

indurated, ulcerated genital lesion

Patau syndrome (trisomy 13)

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

Niemann-Pick disease (genetic sphingomyelinase deficiency)

infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

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

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Edwards syndrome (Trisomy 18)

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

Courvoisier sign (digital obstruction of biliary tree)

jaundice, palpable distended non-tender gallbladder

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

large rash with bullseye appearance

Epidural hematoma (middle meningeal artery rupture)

lucid interval after traumatic brain injury

Bruton disease (X-linked agammaglobulinemia)

male child, recurrent infections, no mature B cells)

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

mucosal bleeding and prolonged bleeding time

Beck triad of cardiac tamponade

muffled heart sounds distended neck veins hypotension

Gardner syndrome (subtype of FAP)

multiple colonic polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

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

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury; waiter's tip)

neonate with arm paralysis following difficult birth

Sheehan syndrome (pituitary infarction)

no lactation postpartum, absent menstruation, cold intolerance

Multiple sclerosis

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

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

oscillating slow/fast breathing

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

painful blue fingers/toes, hemolytic anemia

Raynaud phenomenon (vasospasm in extremities)

painful, pale, cold fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

painful, raised red lesions on pad of fingers/toes

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

painless erythematous lesions on palms and soles

Cancer of the pancreatic head obstructing bile duct

painless jaundice

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

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

MEN 1 (AD)

pancreatic, pituitary, parathyroid tumors

Nephrotic syndrome

periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

"Pink puffer" (emphysema: centriacina (smoking); panacinar (alpha 1 antitrypsin deficiency)

Pink complexion, dyspnea, hyperventilation

Fanconi syndrome (proximal tubular reabsorption defect)

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

Classic Presentations Flashcards

(79 cards)