classical presentations 2 Flashcards by Hunter Garrett

infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration

Niemann-Pick disease

genetic sphingomyelinase deficiency

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infant w/ hypoglycemia, failure to thrive and hepatomegaly

Cori’s disease

debranching enzyme deficiency

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

Edward’s syndrome

trisomy 18

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jaundice, palpable distended non-tender gallbladder

Courvoisier’s sign

distal obstruction of biliary tree

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large rash w/ bull’s eye appearance

erythema chronicum migrans from Ixodes tick bite

Lyme disease: Borrelia

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Lucid interval after traumatic brain injury

epidural hematoma

middle meningeal artery rupture

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male child, recurrent infections, no mature B cells

Bruton’s disease

X-linked agammaglobulinemia

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mucosal bleeding and prolonged bleeding time

Glanzmann’s thrombasthenia

defect in platelet aggregation due to lack of GPIIb/IIIa

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muffled heart sounds, distended neck veins, hypotension

beck’s triad of cardiac tamponade

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

Gardner’s syndrome (subtype of FAP)

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myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe’s disease

lysosomal alpha-1,4-glucosidase deficiency

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neonate w/ arm paralysis following difficult birth

Erb-Duchenne palsy

(superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”

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no lactation postpartum, absent menstruation, cold intolerance

Sheehan’s syndrome

pituitary infarction

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nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

multiple sclerosis

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oscillating slow/fast breathing

Cheyne-Stokes respirations

central apnea in CHF or increase intracranial pressure

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painful blue fingers/toes, hemolytic anemia

cold agglutinin disease

AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis

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painful, pale, cole fingers/toes

Raynaud’s phenomenon

vasospasm in extremities

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painful, raised red lesions on pad of fingers/toes

Osler’s node

infective endocarditis, septic emboli/microabscesses

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painful jaundice

cancer of pancreatic head obstructing bile duct

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

Henoch-Schonlein purpura

IgA vasculitis affecting skin and kidneys

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pancreatic, pituitary, parathyroid tumors

MEN I (autosomal dominant)

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

nephrotic syndrome

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pink complexion, dyspnea, hyperventilation

“pink puffer”
(emphysema: centriacinar [smoking],
panacinar=>alpha-1 antitrypsin deficiency

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

Fanconi’s syndrome

proximal tubular reabsorption defect

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positive anterior drawer sign

ACL injury

pruritic, purple, polygonal planar papules, plaques (6 Ps)

Lichen planus

Ptosis, miosis, anhidrosis

Horner's syndrome | sympathetic chain lesion

pupil accommodates but does not react

Argyll Robertson pupil | neurosyphilis

rapidly progressive leg weakness that ascends following GI/URI

Guillain Barre syndrome | acute AI inflammatory demyelinating polyneuropathy

rash on palms and soles

Coxsackie A, 2' syphilis, Rocky Mountain spotted fever

recurrent colds, unusual eczema, high serum IgE

Hyper-IgE syndrome | Job's syndrome: neutrophil chemotaxis abnormality

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

Red "currant jelly" stools

acute mesenteric ischemia (adults); | intussusception (infant up to 2y/o)

red, itchy, swollen rash of nipple/areola

Paget's disease of breast | represents underlying neoplasm

red urine in morning, fragile RBCs

paroxysmal nocturnal hemoglobinuria

renal cell CA (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

von Hippel-Lindau disease | dominant tumor suppressor gene mutation

resting tremor, rigidity, akinesia, postural instability

Parkinson's disease | nigrostriatal dopamine depletion

retinal hemorrhages w/ pale centers

Roth's spots | bacterial endocarditis

sever jaundice in neonate

Crigler-Najjar syndrome | congenital unconjugated hyperbilirubinemia

severe RLQ pain w/ palpation of LLQ

Rovsing's sign | acute appendicitis

severe RLQ pain w/ rebound tenderness

McBurney;s sign | appendicitis

short stature, increase incidence of tumors/leukemia, aplastic anemia

Fanconi's anemia | genetic loss of DNA crosslink repair; often to AML

single palmar crease

Simian crease | Down syndrome

situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener's syndrome | dynein arm defect affecting cilia

skin hyperpigmentation, hypotension, fatigue

Addison's disease | 1' adrenocortical insufficiency causes increase in ACTH and increase alpha-MSH production

slow, progressive muscle weakness in boys

Becker's muscular dystrophy | X-linked missense mutation in dystrophin => less severe than Duchenne's

small, irregular red spots on buccal/lingual mucosa w/ blue-white centers

koplik spots | measles; rubeola virus

smooth, flat, moist, painless white lesions on genitals

condylomata lata | 2' syphilis

splinter hemorrhages in fingernails

bacterial endocarditis

"strawberry tongue"

scarlet fever, kawasaki disease, toxic shock syndrome

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

Turner syndrome | 45, XO

sudden swollen/painful big toe joint, tophi

Gout/podagra | hyperuricemia

swollen gums, mucosal bleeding, poor wound healing, spots on skin

Scurvy | vit C deficiency: cannot hydroxylate proline/lysine for collagen synthesis

swollen, hard, painful finger joints

osteoarthritis (osteophyties on PIP [Bouchard's nodes], DIP [Heberden's nodes])

systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (AD ret mutation)

thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (AD ret mutation)

toe extension/fanning upon plantar scrape

Babinski sign | UMN lesion

unilateral facial drooping involving forehead

Facial nerve | LMN CN 7 palsy

urethritis, conjuctivitis, arthritis in a male

reactive arthritis assoc w/ HLA-B27

vascular birthmark (port-wine stain)

Hemangioma | benign, but assoc w/ Sturge-Weber syndrome

vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome | alcoholic and bulimic patients

weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's disease | tropheryma whipplei

worst headache of my life

subarachnoid hemorrhage

classical presentations 2 Flashcards

(64 cards)