Classic Presentations Flashcards
Abd. pain, ascities, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abd. pain, diarrhea, leukocytosis, recent antibiotic use
C. Diff infxn
Achilles tendon xanthoma
Type IIa dyslipidemia Familial hypercholesterolemia- AD (Defective/absent LDL receptors - normal B-100 ligand)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (menigococcemia)
Anaphylaxis following blood transfusion, airway/GI infxns, autoimmune disease, atopy, majority asymptomatic
IgA deficiency (failed IgA B cell maturation - most common 1° immunodeficiency)
Anterior “Drawer” test
ACL injury
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete w/ polycythemia
2° to erythropoietin injection
Back pain, fever, night sweats
Pott Disease (vertebral TB)
Bilateral acoustic schwannomas
NF2 - Autosomal dominant - Merlin (schwannomin) protein on 22q
Bilateral hilar lymphadenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Black eschar on face of patient w/ diabetic ketoacidosis
Mucor or Rhizopus fungal infxn
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 (3 stages: Lytic - osteoclastic; mixed - osteoclast/blastic; sclerotic - osteoblasts; quiescent - minimal osteoclast/blast activity) - “Breakdown, both, and growth”
Bounding pulses, wide pulse pressure, diastolic heart murmur, and head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
NF1 (von Recklinghausen disease) - Autosomal dominant - Ras GTPase on 17q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (Mutation in G-protein signaling - Pt. must be mosaic)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctive and tongue, hand-foor changes
Kawasaki disease (IVIG and ASA)
“Cherry-red spots” on macula
Tay-sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occulsion
Chest pain on exertion
Angina (stable w/ moderate exertion - goes away in 20 mintues or with nitro; unstable w/ minimal exertion or at rest - not relieved by nitro)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune mediated post-MI fibrinous pericarditis, 2 weeks to months after acute MI)
Chest pain w/ ST depression on EKG
Unstable angina (negative troponin) or NSTEMI (positive troponin)
Child uses arms to stand up
DMD - Gower’s sign
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/Fifth’s 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” heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (Presents as exopthalmos/pretibial myxedema in Graves disease or periorbital edema in Hashimoto’s thyroiditis)
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (R. sided cardiac valvular lesions, elevated 5-HIAA)
Meconium ileus at birth (inspissated green fecal mass in ileum)
CF (Although only 10-20% of infants w/ CF will have meconium ileus at birth, almost all born with meconium ileus will be Dx w/ CF.)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma (due to HHV8)
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respiration)
Dermatitis, dementia, diarrhea
Pellagra (niacin - B3 - deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine - B1 - deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (2° esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (can progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos Syndrome (Type V collagen defect; Type III collagen defect 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 on tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic Rx for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
4 C’s: cough, conjunctivitis, coryza, Koplik spots (white/blue sores in prodromal period)
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissues of penis with abnormal curvature
Peyronie disease (CT disorder)
Golden brown rings around peripheral cornea
Wilson Disease (Kayser-Fleischer rings - copper accumulation)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstrxn; increase cancer risk, mainly GI)
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis
Gaucher disease (glucocerebroside deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen 4)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinkski sign +
UMN damage (everything is up)
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells - “blue bloater”)
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or hosloprosencephaly, polydactyly, cutis aplasia
Patau syndrome (Trisomy 13)
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency)
VonGierke disease (G6PD, more severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (Trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distant malignant obstruction of biliary tree)
Large rash with bull’s eye appearance
Erythema chronicum migans from Ixodes tick bite (Lyme disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma (Middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
