Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (post hepatic venous thrombosis)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium Difficile infection
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signalling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior drawer sign +
ACL injury
Arachnodactylyl, lens dislocation (upwards), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweats
Pott disease (vertebral TB)
Bilateral acoustic schwannomas
Neurofibromatosis Type 2
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
Blue sclera
Osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (increase osteoblastic and osteoclastic activity)
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas
Neurofibromatosis type 1
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signalling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Kawasaki disease (treat with IVIG and ASA)
“Cherry-red spots” on macula”
Tay-Sachs (GM 2 ganglioside accumulation due to lack of Hex-A)
or
Neumann-Pick (sphingomyelin accumulation due to deficiency of sphingomyelinase)
or
Central retinal artery occlusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or a rest)
Chest pain, pericardial effusion/ friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
Chest pain with ST depression on EKG
Unstable angina (if neg- trop) NSTEMI (if pos+ trop)
Child uses arms to stand from squat
Duchenne muscular dystrophy (Gower’s sign)
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/ fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)
Continuous “machine like” murmur
PDA (close with indomethacin; keep open with PGE analogs)
Cutaneous/ dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave’s disease if pretibial)
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increase in 5-HIAA)
Dark purple skin/mouth nodules in patients with AIDS
Kaposi sarcoma, associated with HHV-8
Deep, laboured breathing / hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
Dermatitis, dementia, diarrhea
Pellagra (niacin -Vit B3- def)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine -VitB1- def)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal SCC)
Elastic skin, hyper mobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungicides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungicides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chovstek sign (hypocalcemia)
Fat, female, forty, fertile
Cholelithiasis
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles