Classic Presentations Flashcards by Cody Krueger

abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

How well did you know this?

Not at all

Perfectly

achilles tendon xanthoma

Familial hypercholesterolemia ( decreased LDL receptor signaling

How well did you know this?

Not at all

Perfectly

adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

How well did you know this?

Not at all

Perfectly

Anterior “drawer sign” +

Anterior cruciate ligament injury

How well did you know this?

Not at all

Perfectly

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin defect)

How well did you know this?

Not at all

Perfectly

Athlete with polycythemia

Secondary to erythropoietin injection

How well did you know this?

Not at all

Perfectly

Back pain, fever, night sweats, weight loss

Pott disease (vertebral TB)

How well did you know this?

Not at all

Perfectly

Blue sclera

Osteogenesis imperfecta (type I collagen)

How well did you know this?

Not at all

Perfectly

Bluish line on gingiva

Burton line (lead poisoning)

How well did you know this?

Not at all

Perfectly

Bone pain, bone enlargement, arthritis

Paget disease of bone (increaesed osteo - blastic/clastic activity)

How well did you know this?

Not at all

Perfectly

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

How well did you know this?

Not at all

Perfectly

“Butterfly” facial rash and Raynaud phenomenon in young female

Systemic Lupus erythematosus

How well did you know this?

Not at all

Perfectly

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

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

How well did you know this?

Not at all

Perfectly

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

McCune-Albright Syndrome (mosaic G-protein signaling mutation

How well did you know this?

Not at all

Perfectly

Calf pseudohypertrophy

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

How well did you know this?

Not at all

Perfectly

“Cherry-red spots” on macula

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

How well did you know this?

Not at all

Perfectly

Chest pain on exertion

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

How well did you know this?

Not at all

Perfectly

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

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

How well did you know this?

Not at all

Perfectly

Child uses arms to stand up from squat

Gowers sign (Duchenne muscular dystrophy)

How well did you know this?

Not at all

Perfectly

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

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

How well did you know this?

Not at all

Perfectly

Chorea, dementia, caudate degeneration

Huntington disease (autosomal dominant CAG repeat expansion)

How well did you know this?

Not at all

Perfectly

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

McArdle disease (muscle glycogen phosphorylase deficiency)

How well did you know this?

Not at all

Perfectly

Cold intolerance

Hypothyroidism

How well did you know this?

Not at all

Perfectly

Conjugate lateral gaze palsy, horizontal diplopia

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

How well did you know this?

Not at all

Perfectly

Continuous "machine-like" heart murmur

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

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Graves disease (pretibial)

Dark purple skin/mouth nodules in a patient with AIDS

Kaposi Sarcoma, associated with HHV-8

Deep labored breathing/hyperventilation

Kussmaul respirations (diabetic ketoacidosis)

Dermatitis, dementia, diarrhea

Pellagra (niacin, vitamin B3 deficiency)

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine, vitamin B1 deficiency)

Dog or cat bit resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

Dry eyes, dry mouth, arthritis

Sjogren syndrome (autoimmune destruction of exocrine glands)

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (type III collagen defect)

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

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

Facial muscle spasm upon tapping

Chvostek sign (hypocalcemia)

Fat, female, forty, and fertile

Cholelithiasis (gallstones)

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

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

Fever, cough, conjuctivitis, coryza, diffuse rash

Measles (Rubeola)

Fever, night sweats, weight loss

B symptoms (staging) of lymphoma

Fibrous plaques in soft tissue of penis

Peyronie disease (connective tissue disorder)

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

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

Green-yellow rings around peripheral cornea

Kayser-Fleischer rings (copper accumulation from Wilson disease)

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

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

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Gaucher disease (glucocerebrosidase deficiency)

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in collagen IV)

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

Hyperreflexia, hypertonia, Babinksi sign present

UMN damage

Hyporeflexia, hypotonia, atrophy, fasiculations

LMN damage

Hypoxemia, polycythemia, hypercapnia

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

Indurated, ulcerated genital lesion

nonpainful: chancre (primary syphilis, treponema pallidum) -- Painful w/ exudate: chanroid (Haemophilus ducreyi)

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

Patau syndrome (trisomy 13)

Infant with failure to thrive, hepatosplenomegaly and neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Infant w/ hypoglycemia, failure to thrive, and hepatomegaly

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

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

Edwards syndrome (trisomy 18)

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal obstruction of biliary tree)

Large rash with bull's-eye appearance

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

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery)

Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

Mucosal bleeding and prolonged bleeding time

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

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

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

Gardner syndrome (subtype of FAP)

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

Neonate with arm paralysis following difficult birth

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

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (pituitary infarction)

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

Oscillating slow/fast breathing

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

Painful blue fingers/toes, hemolytic anemia

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

Painful, pale, cold fingers/toes

Raynaud phenomenom

Painful, raised red lesions on pad of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

painless jaundice

Cancer of the pancreatic head obstructing bile duct

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

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

Pancreatic, pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hyperchoesterolemia

Nephrotic syndrome

Pink complexion, dyspnea, hyperventiliation

"Pink puffer" (emphysema: centriacinar (smoking), panacinar (a1-antitrypsin deficiency)

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

Fanconi syndrome (proximal tubular reabsorption defect)

Classic Presentations Flashcards

(78 cards)