Rapid Review Classcial Presentations2 Flashcards
CLINICAL PRESENTATION
DIAGNOSIS/DISEASE
Abdominal pain, ascites, heptomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholestrolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen sydrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott’s disease (vertebral tuberculosis)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease of bone ( increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
Systemic lupus erythematosus
Caf_-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Caf_-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple edocrine abnormalities
McClune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystropy ( most commonly Duchenne’s): X-linkage recessive deletion of dystrophin gene
“Cherry-red spot” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery 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’s syndrome (autoimmune-mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gowers’ sign (Duschenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks” (erythema infectiosum/fifth disease: parovirus B19)
Chorea, dementia, caudate degeneration
Huntington’s disease (autosomal-dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (muscle glycogen phosphorylase 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 (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
Kaposi’s sarcoma (usually AIDS patients [MSM]: associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dialated cardiomyopathy, edema, alcoholism or malnutrition
Wet berberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasturella 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 cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchow’s node (abdominal metastasis)
Erythroderma, lymphadenopathy, heptosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, female, forty and fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes resuls in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, 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’s disease)
Hamartomatous GI polyps, hyperpigmenation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstuction; Increased cancer risk, mainly GI)
Heptosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)