Classic Presentations M--Z Flashcards Preview

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Flashcards in Classic Presentations M--Z Deck (58):
1

Male child, recurrent infections, no mature B-cells

Bruton disease (X-linked agammaglobulinemia)

2

Mucosal bleeding and prolonged bleeding time

Glanzmann thrombasthemia (defect in platelet aggregation due to lack of GpIIb/IIIa

3

Muffled heart sounds, distended neck veins, hypotension

Beck's triad of cardiac tamponade

4

Multiple colonic polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Gardner syndrome (subtype of FAP), mismatch repair defact, autosomal dominant APC gene

5

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)

6

Neonate with arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")

7

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (pituitary infarction)

8

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

Multiple sclerosis

9

Oscillating slow/fast breathing

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

10

Painful blue fingers/toes, hemolytic anemia

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

11

Painful, pale, cold fingers/toes

Raynaud phenomenon (vasospasm in extrememities)

12

Painful, raised red lesions on pad of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

13

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

14

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

15

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

16

Pancreatic, pituitary, parathyroid tumors

MEN1 (autosomal dominant)

17

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Nephrotic syndrome

18

Pink complexion, dyspnea, hyperventilation

"pink puffer" (emphysema: centriacinar (smoking), panacinar (alpha1-antitrypsin deficiency)

19

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

Fanconi syndrome (proximal tubular reabsorption defect)

20

Pruritic, purple, polygonal planar papules and plaques (6Ps)

Lichen planus

21

Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

22

Pupil accomodates but does not react

Argyll Robertson pupil (neurosyphilis)

23

Rapidly progressive leg weakness that ascends following GI/upper respiratory infection

Guillan Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

24

Rash on palm and soles

Coxsackie A, secondary syphilis, Rock Mountain spotted fever

25

Recurrent colds, unusual eczema, high serum IgE

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

26

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

27

Red "currant jelly" stools

Acute mesenteric ischemia (adults), intussuception (infants)

28

Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underlying neoplasm)

29

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

30

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

31

Resting tremor, rigidity, akinesia, postural instability

Parkinson disease (nigrostriatal dopamine deletion)

32

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

33

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

34

Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

35

Severe RLQ pain with rebound tenderness

McBurney sign (acute appendicitis)

36

Short stature, increased incidence of tumors/leukemia, aplastic anemia

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

37

Singlar palmar crease

Down syndrome

38

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener's Syndrome (dynein arm defect affecting cilia)

39

Skin hyperpigmentation, hypotension, fatigue

Addison disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)

40

Slow, progressive muscle weakness in boys

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

41

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Koplik spots (measles; rubeola virus)

42

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (secondary syphilis)

43

Splinter hemorrhages in fingernails

Bacterial endocarditis

44

"Strawberry tongue"

Scarlet fever, Kawasaki disease, toxic shock syndrome

45

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

Turner syndrome (45, XO)

46

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

47

Swollen gums, mucosal bleeding, poor wound healing, petchiae

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

48

Swollen, hard, painful finger joints

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

49

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

50

Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant ret mutation)

51

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

52

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

53

Unilateral facial drooping involving forehead

Facial nerve (LMN CN 7 palsy)

54

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27 (Reiter's syndrome)

55

Vascular birthmark (port-wine stain)

Hemangioma (benign but associated with Sturge-Weber syndrome [neuro-oculo cutaneous syndrome])

56

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

57

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (tropheryma whipplei)

58

"Worst headache of my life"

Subarachnoid hemorrhage