Classic Presentations FA Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abdominal pain, diarrhea, leukocytosis, recent abx
C. diff. infection
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friedrichsen syndrome (meningococcemia usually from Neisseria meningitidis)
Anaphylaxis following blood transfusion
IgA deficiency
Positive anterior drawer sign
ACL injury
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome
Athlete with polycythemia
Exogenous EPO use
Back pain, fever, night sweats
Pott disease (vertebral TB)
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Bilateral hilar adenopathy, uveitis
Sarcoidosis (non-caseating granulomas)
Black eschar on face of patient with DKA
Mucor or Rhizopus infection
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton line (Pb poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (increased osteoclastic and osteoblastic activity)
Bounding pulses, wide pulse pressure, diastolic murmur, head bobbing
Aortic regurgitation
Butterfly facial rash, Raynaud phenomenon in young female
SLE
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type 1
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 (usually Duchenne, X-linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctive an tongue, hand and foot changes
Kawasaki disease (treat with IVIG and ASA)
Cherry red spots on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal occlusion
Chest pain on exertion
Angina (stable : with moderate exertion :: unstable : minimal exertion or at rest)
Chest pain, pericardial effusion, persistent fever post-MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months post-MI)
Chest pain with ST depression on EKG
+ troponins : NSTEMI :: - troponins : unstable angina
Child uses arms to stand from a squat
Duchenne muscular dystrophy (Gowers sign)
Child with fever later develops red rash on face that spreads to body
Erythema infectosum (fifth disease) “slapped-cheek appearance” caused by parvovirus B19
Chorea, dementia, caudate degenration
Huntington disease (autosomal dominant CAG repeat expansion)
Chorioretinits, 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 ophthalmoplegia (damage to MLF, can be unilateral or bilateral)
Continuous “machine-like” heart murmur
Patent ductus arteriosus (close with indomethacin, keep open with PGE analogues)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease (pre-tibial))
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right sided valvular lesions and increased 5-HIAA)
Dark purple skin/mouth nodules in AIDS patient
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilation
DKA (Kussmaul respirations)
Dermatitis, dementia, diarrhea
Pellagra (B3 deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (B1 deficiency)
Dog or cat bite resulting in infection
Pasturella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjögren syndrome
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (risk of squamous cell carcinoma)
Elastic skin, hypermobile joints, increased bleeding tendency
Ehler-Danlos syndrome (type V collagen defect, if vascular subtype then type III collagen defect)
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 spasm upon tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, fertile
Gallstones
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
Fever, cough, conjunctiva, coryza, diffuse rash
Measles