Common Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly (abnormally long and slender digits), lens dislocation, aortic dissection,hyperflexible joints
Marfan’s syndrome (fibrillin defect)
Anaphylaxis following blood transfusion
IgA Deficiency
Positive “Anterior Drawer” Sign
Anterior Cruciate Ligament Injury
Athlete with polycythemia
2° to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott’s disease (vertebral tuberculosis)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease ofbone (increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
Systemic lupus erythematosus
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Cafe-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’s): X-linked recessive deletion of dystrophin gene
“Cherry-red spot” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Cervical Lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
Kawasaki Disease (treat with IVIG and aspirin)
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
Chest pain with ST depressions on EKG
Unstable angina (troponins -) or NSTEMI (troponins +)
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 Bl9)
Chorea, dementia, caudate degeneration
Huntington’s disease (autosomal-dominant CAG repeat expansion)
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (skeletal muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate horizontal gaze palsy unilaterally, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; likely stroke)
Continuous “machine-like” heart murmur
PDA (close with indomethacin; open or maintain with misoprostol or other PGE analogs)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves’ disease [pretibial])
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi’s sarcoma (usually AIDS patients [MSM]: associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
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 (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren’s syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may 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 seen in vascular subtype of Ehlers-Danlos)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma), or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Episodic Vertigo, tinnitus, hearing loss
Meniere Disease
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza(rhinitis), diffuse rash
Measles (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson Disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of type IV collagen)
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 (abnormally high hematocrit), hypercapnia
“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidwn) Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome (trisomy 1 3)
Infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia and hepatomegaly
Cori disease (debranching enzyme deficiency), has normal blood lactate.
Von Gierke disease (glucose-6-phosphatase deficiency, more severe) has elevated blood lactate.
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards’ syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier’s sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearance
Erythema chronicum migrans 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’s disease (X-Iinked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of Gpllb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth
Gardner’s syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe’s disease (lysosomal alpha-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud’s phenomenon (vasospasm in extremities)
Painful, raised red lesions on pad of fingers/toes
Osler’s node (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN l (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink puffer” (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/ upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job’s syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Reel “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (represents underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Linclau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Retinal hemorrhages with pale centers
Roth’s spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing’s sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney’s sign (acute appendicitis)
Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi’s anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Single palmar crease
Simian crease (Down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
Primary Adrenocortical insufficiency (e.g. Addison disease), causes increased ACTH and increased alpha-MSH production
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-Iinkecl missense mutation in clystrophin; less severe than Duchenne)
Small, irregular reel spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2° syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
“Strawberry tongue”
Scarlet fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP (Bouchard’s nodes], DIP (Heberden’s nodes])
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy); UMN lesions spare the forehead
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Vascular birthmark (port-wine stain)
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s disease (Tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage vs. Meningitis
Conjugate horizontal gaze palsy bilaterally, horizontal diplopia
Internuclear opthalmoplegia (damage to the MLF; bilateral is usually multiple sclerosis)
