Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abdominal pain, diarrhea, leukoytosis, recent abx use
C. difficile infx
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Meningococcemia (Waterhouse-Friederichsen syndrome)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior drawer sign positive
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
EPO injection
Back pain, fever, night sweats
Pott disease (vertebral TB)
Bilateral acoustic schwannomas
NF 2
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Black eschar on face of Pt with DKA
Mucor or rhizopus fungal infx
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Blueish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (increased osteoblastic/clastic activity - lamellar bone resembling mosaic)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud phenomenon in young female
SLE
Café au lait spots, Lisch nodules (iris hamaratoma), cutaneous neurofibromas, pheochromocytomas, optic glicomas
NF I, pheochromocytoma, optic gliomas
Café au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, 2/2 X-linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
Kawasaki disease (treat with IVIG and ASA)
“Cherry red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (spihingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion/rest)
CP, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
CP with ST depressions on EKG
Unstable angina (troponins negative) or NSTEMI (troponins positive)
Child uses arms to stand up from squat
Gowers sign (Duchenne MD)
Child with fever later develops red rash on face that spreads to body
Slapped cheek aka erythema infectiosum/fifth disease - Parvovius B19
Chorea, dementia, caudate degeneration
Huntington’s disease (autosomal dominant CAG repeat expansion)
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxo
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Cold interolerance
Hypothyroidism
Conjugate horizontal gaze palsy, horizonal diplopia
INO (damage to MLF; may be unilateral or bilateral)
Continuous “machine-like” murmur
PDA (close with indomethacin, open/maintain with PGE)
Cutaneous/dermal edema due to CT deposition
Myxedema (hypothyroidism, Graves disease [pre-tibial])
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)
Dark purple skin/mouth nodules in a Pt with AIDS
Kaposi sarcoma, HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, Fe-deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints, incresed bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following abx treatment for syphilis
Jarisch-Herxheimer reaction 2/2 rapid lysis of spirochetes resulting in endotoxin release
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweater, weight loss
B symptoms of lymphoma
Fibrous plaques in soft tissue of penis w/ abnormal curvature
Peyronie disease (CT disorder)
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (Wilson disease, copper metabolism)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Hamartomaous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased CA risk, mainly GI)
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (type IV collagen mutation)