Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd chiari syndrome (posthepatic venous thrombus)
Achilles tendon xanthoma
familial hypercholesterolemia (dec LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic disection, hyperflexible joints
Marfans Syndrome (fibrillin defect)
Athlete with polycythemia
EPO injection
Backpain, fever, night sweats, weight loss
Pott’s Disease (vertebral tuberculosis)
Bilateral hilar adenopathy, uveitis
sarcoidosis (noncaseating granulomas)
Blue Sclera
Osteogenesis Imperfecta (collegen I defect)
Bluish line on gingiva
Burton’s Line (lead poisoning)
Bone Pain, bone enlargement, arthritis
Paget’s disease of bone (inc osteblastic and osteoclastic activity)
Bounding pulse, diastolic heart murmur, arthritis
Aortic regurgitation
“butterfly” facial rash and raynauds phenomenon in a young female
systemic lupus erythematosus
cafe au lait spots, lisch nodules (iris hamartoma)
Neurofibromatosis Type I (+pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+bilateral acoustic neuromas)
cafe au lait spots, polyostolic fibrous dysplasia, precocious puberty
McCune-Albright syndrome (mosaic G-protien signaling mutation)
Calf pseudo-hypertrophy
Muscular Dystrophy (MC Duchenne's) X-linked recessive deletion of dystrophin gene
“Cherry-red spot” on macula
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
Chest pain on exertion
Angina (staple: moderate exertion, unstable: minimal exertion)
Chest pain, pericardial effusion/friction rub, persisten fever following MI
Dressler’s syndrome
auto immune mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode
Child uses arms to stand up from a squat
gowers sign
Duchenne muscular dystrophy
Child with fever develops a red rash on face that spread to body
“slapped checks” (erythma infectiousum/fifth disease: parvo B19)
Chorea, dementia, caudate degeneration
Huntington’s disease (autosomal dominant)
CAG repeat
Chronic exercise intolaerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdles disease (muscle glycogen phosphyrlase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF: bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machinery” heart murmur
PDA
closes with indomethacin; open with misoprostol/PGE1
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, grave’s disease [periorbital]
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDs patient; HHV-8)
deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
pellagra (niacin [vit B3] deficiency)
dilated cardiomyopathy, edema, polyneuropathy
wet beriberi (thiamine [vit B1] deficiency)
dog or cat bite resulting in infection
pasteurella multocida (cellulitis at inoculation site)
dry eyes, dry mouth, arthritis
sjogren’s syndrome
autoimmune destruction of exocrine glands
Dysphagia (esophageal webs) glossitis, iron deficiency anemia)
Plummer-Vinson syndrome (may progress to esophageal squamous carcinoma)
Elastic skin, hypermobility of of joints
Ehlers-Danlos Syndrome (Type III collagen defect)
Enlarged, hard left supraclavicular node
virchow’s node (abdominal mets)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm on tapping
Chvostek’s sign (hypocalcemia)
Fate, female, forty, fertile
Acute cholelithiasis (bile duct blockage)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid release of spirochetes result in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
measles (morbillivirus)
Fever, night sweats, weight loss
B symptoms (lymphoma)
Fibrous plaques in soft tissues of penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilation behavior in boy
Lesch-Nyhan syndrome
(HGPRT deficiency) X-linked recessive
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from wilson’s disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
genetic benign polyposis can cause bowel obstruction; inc cancer risk
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s Disease
glucocerebrosidase def