Classic presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari Syndrome
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. diff
Achilles tendon xanthoma
Familial hypercholesterolemia
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friedrichsen syndrome (disseminated meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior drawer sign
ACL tear
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome
Athlete with polycythemia
Result of erythropoietin injection
Back pain, fever, night sweats
Pott disease
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 infection
Blue sclera
Osteogenesis imperfecta
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash and Raynaud phenomenon in a young female
SLE
Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas
NF type 1
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome
Calf pseudohypertrophy
Muscular dystrophy
Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctivae and tongue
Kawasaki disease
Cherry red spots on macula
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
Chest pain on exertion
Angina
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune post-MI fibrinous pericarditis)
Chest pain with ST depressions on EKG
Unstable angina (-troponin) NSTEMI (+troponin)
Child uses arms to stand up from squat
Gowers sign–Duchenne muscular dystrophy
Child with fever later develops red rash on face that spreads to body
Slapped cheeks–erythema infectiosum/Fifth disease–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 ophthalmoplegia
Continuous machine-like murmur
PDA (close with indomethacin, prop open with prostaglandins)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (pretibial in Graves disease)
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome
Dark purple skin/mouth nodules in AIDS patient
Kaposi sarcoma (HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine deficiency)
Dog or cat bite resulting in infection
Pasteurella multocidaSjogren syndrome
Dry eyes, dry mouth, arthritis
Sjogren syndrome
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
Elastic skin, joint hypermobility, increased bleeding tendency
Ehlers-Danlos syndrome
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)/Sezary syndrome (when it gets into blood)
Facial muscle spasm upon tapping
Chvostek sign of hypocalcemia
Fat, female, forty, fertile
Cholelithiasis (gallstones)
Antibiotic treatment for syphilis–>fever, chills, headache, myalgia
Jarisch-Herxheimer reaction
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, weight loss
B symptoms of lymphoma
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson’s disease)
Gout, intellectual disability, self-mutilation in a boy
Lesch-Nyhan syndrome (HGPRT deficiency)
Hamartomatous GI polyps, hyperpigmentation of hands/feet/genitalia
Peutz-Jeghers syndrome
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher disease
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
“Blue bloater:” chronic bronchitis
Indurated, ulcerated genital lesion
Non-painful: chancre (syphilis)
Painful: chancroid (H. ducreyi)
Infant with cherry-red macula, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (Trisomy 13)
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (G6P deficiency)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Bull’s eye rash
ECM from Ixodes tick carrying borrelia (Lyme disease)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton’s X-linked agammaglobulinemia
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (GPIIb/IIIa deficiency–>problems with platelet aggregation)
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (type of FAP)
Infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe disease
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (C5-C6 injury)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral INO
Multiple sclerosis
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AIHA from mycoplasma pneumoniae, infectious mono, CLL)
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition) "ouch ouch Osler"
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Painless jaundice
Cancer of pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, hematuria
HS purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN I
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink puffer:” emphysema
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the PCT)
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Argyll-Robinson pupil (neurosyphilis)
Rapidly progressive ascending limb weakness following GI/URI
Guillain-Barre
Rash on palms and soles
Coxsackie A, secondary syphilis, RMSF
Recurrent cold abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome)
Red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Red currant jelly stools
Intussusception
Red, itchy, swollen rash of nipple/areola
Paget disease
Red urine in the morning, fragile RBCs
PNH
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson’s
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (loss of DNA crosslink repair)
Single palmar crease
Down syndrome (Trisomy 21)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome
Skin hyperpigmentation, hypotension, fatigue
Primary adrenal insufficiency (leads to increased ACTH and MSH production)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles, rubeola virus)
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (secondary syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
Strawberry tongue
Scarlet fever, Kawasaki disease
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (Vitamin C deficiency–>can’t hydroxylate proline and lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis
Bouchard nodes on PIP
Heberden nodes on DIP (old Mrs Heberden lives far away)
Crescendo-decrescendo systolic ejection murmur
Aortic stenosis
Telangiectasias, recurrent epistaxis, skin discoloration, AVM, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
Thyroid and PTH tumors, pheochromocytoma
MEN 2A syndrome (RET mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEB 2B (RET mutation)
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping INVOLVING forehead
LMN CN VII lesion
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27 (Reiter’s syndrome)
Vascular birthmark (port-wine stain) of the face
Nevus flammeus
Vomiting blood following gastroesophageal laceration
Mallory-Weiss syndrome
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
Worst headache of my life
Subarachnoid hemorrhage
Gynecomastia+peptic ulcer disease
Cimetidine