Classic Presentations M--Z Flashcards
Male child, recurrent infections, no mature B-cells
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthemia (defect in platelet aggregation due to lack of GpIIb/IIIa
Muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
Multiple colonic polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP), mismatch repair defact, autosomal dominant APC gene
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe 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 syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
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, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extrememities)
Painful, raised red lesions on pad of fingers/toes
Osler nodes (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
MEN1 (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 syndrome (proximal tubular reabsorption defect)
Pruritic, purple, polygonal planar papules and plaques (6Ps)
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Pupil accomodates but does not react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillan Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palm and soles
Coxsackie A, secondary syphilis, Rock Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussuception (infants)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of 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 disease (nigrostriatal dopamine deletion)
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, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Singlar palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s Syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
Addison disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary 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, petchiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden 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 7 palsy)
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27 (Reiter’s syndrome)
Vascular birthmark (port-wine stain)
Hemangioma (benign but associated with Sturge-Weber syndrome [neuro-oculo cutaneous syndrome])
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage
