Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decr LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friedrichsen syndrome (meningococcemia)
Arachnodactyly (fingers are long, slender, and curved. They look like a spider’s legs), lens dislocation, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrillin defect)
Athlete with polycythemia
secondary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott’s disease (vertebral tuberculosis)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (non-caseating granuloma)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burtons line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease of bone (incr osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young woman
Systemic lupus erythematosus
Cafe’-au-lait spots, Lisch nodules (iris hamartoma)
Neurfibromatosis type I (+ pheochromcytoma, optic gliomas)
Cafe’-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright Syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (Duchenne’s most commonly): X-linked deletion of dystrophin gene
“Cherry-red spot” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Angina (stable with moderate exertion; unstable with minor exertion)
Chest pain, pericardial effusion, persistent fever following MI
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stan up from squat
Gower’s 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’s disease (autosomal-dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machinery” heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/ dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Grave’s disease [pretibial])
Dark purple skin/ mouth nodules
Kaposi’s sarcoma (usually AIDS patients [MSM]: associated with HHV-8)
Deep, labored breathing/ hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [B3] deficiency)
Dilated cardiomyopathy, edema, alcholism 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
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
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchow’s node (abdominal metastasis)
Erythroderma, lympadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, female, forty, 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 (an acute inflammatory contagious disease involving the upper respiratory tract), diffuse rash
Measles (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in the soft tissue of the penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings arond peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson’s disease)
Hamartomatous GI polyps, hyperpigmentation of hands/ feet/ mouth
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (Glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of 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: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)
infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori’s disease (debranching enzyme deficiency)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward’s 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/head injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton’s disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/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: “waiters 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 cause by Mycoplasma pneumonia, infectious mononucleosis)
Painful, pale, cold fingers/ toes
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 (infectious endocarditis, septic emboli/ microabscesses)
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
Palpable purpura on the buttocks/ legs, joint pain, abdominal pain (child), hematuria
Henoch-Schoenlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome (proximal tubular reabsorption defect)
Positive anterior “drawer sign”
Anterior cruciate ligament injury
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
Ptosis, miosis, anhidrosis
Horner’s syndrome (sympathetic chain)
Pupil accommodates but doesn’t react to light
Argyll Robertson pupil (neurosyphilis)
Rapidly progressing leg weakness that ascends following GI/ upper respiratory tract infection.
Guillain-Barre’ syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
Recurrent colds, 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
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/ areola
Paget’s disease of the breast (indicates underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability
Parkinson’s disease (nigrostriatal dopamine depletion)
Retinal hemorrages 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’s sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney’s sign (appendicitis)
