Classic presentations Flashcards
(229 cards)
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (post-hepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrllin)
Athlete with polycythemia
2/2 EPO injection
Back pain, fever, night sweats, weight loss
Pott’s disease 2/2 vertebral TB
Bilateral hilar LAD & uveitis
Sarcoidosis (non-caseating granuloma)
Blue sclera
OI (type 1 collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease (increased blastic and clastic activity)
Bounding pulses, diastolic murmur, head bobbing
AR
Butterfly facial rash and Raynaud’s phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
NF-1 (plus pheochromocytoma, optic glioma)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertropy
Muscular dystrophy (Duchenne)
Cherry-red spot macula
Tay Sachs (ganglioside)
Niemann-Pick (sphingomyelin)
Central retinal artery occlusion
Chest pain on exertion
Angina (stable: moderate; unstable: mild)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome (AI-mediated post MI fibrinous pericarditis): 1-12 weeks following AMI
Child uses arms to stand up from squat
Gower’s sign: DMD
Child with fever later develops rash on face that spreads to body
Parvovirus B19/Erythema infeciosum/Fifth disease “slapped cheek”
Chorea, dementia, caudate degeneration
Huntington’s disease (AD CAG-repeat)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (muscle glycogen phosphorylase deficiency)
Cold intolerance/sensitivity
Hypothyroidism
Conjugate lateral gaze palsy; horizontal diplopia
Internuclear opthalmoplegia (damage to MLF)
Bilateral: MS
Unilateral: stroke