Clinical Presentations Flashcards
Achilles tendon xanthoma
Familial hypercholesterolemia (decreases LDL receptor signaling)
Adrenal hemorrhage, HoTN, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
+ Anterior drawer sign
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to EPO injection
Back pain, fever, night sweats, wt loss
Pott’s disease (vertebral TB)
B/l Hilar LAD, hypercalcemia, hypercalcuria, elevated ACE levels, non-caseating granulomas
Sarcoidosis
Blue Sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthiritis
Paget disease of the bone (increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash & Raynauds in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal a. occlusion
Chest pain on exertion
Angina (stable: with moderate exertion, unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune mediated post-MI fibrinous pericarditis, 1-2 Wks after acute episode)
Child uses arms to stand up from squat
Gowers sign (Duchenne Muscular Dystrophy)
Child with fever later develops red rash on face that spreads to body
“Slapped Cheeks” (erythema infectiosum/fifth disease: Parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington Disease (autosomal dominant, CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobulinuria
McArdle disease (m. glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
INO (internuclear opthalmoplegia): damage to MLF, b/l MS, u/l stroke
Continuous “machine-like” Heart murmur
PDA (close with indomethacin, open or maintain with misoprostol)
Cutaneous/dermal edema due to CT deposition
Myxedema (caused by HYPOthyroidism, Grave’s Disease»_space; pretibial)