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Flashcards in FA: Rapid Review 2 Deck (63):
1

Infant with hyopglycemia, FTT and hepatomegaly

Cori disease (debranching enZ deficiency) or Von Gierke Diseaes (Glucose-6-phosphatase deficiency more severe)

2

Infant w/ microcephaly, rocker-bottom feet, clenched hands and structual heart defect

Edwards syndrome (trisomy 18)

3

Jaundice, palpable distended non-tender GB

Corvoisier sign (distal obstruction of biliary tree)

4

Large rash w/ bull's eye apperance

Eythema chronicum migrans from ixodes tick bite or Lymes

5

Lucid interval after traumatic brain injury

Epidermal hematoma (middle meningeal artery rupture)

6

Male child, recurrent infections, no mature B cells

Bruton disease (X linked agammaglobulinemia)

7

Mucosal bleeding and prolonged bleeding time

Glanxmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

8

Muffled heart sounds, distened neck veins, hypotension

Beck triad of cardiac tamponade

9

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeary teeth

Gardner Syndrome (subtype of FAP)

10

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

11

Noenate with arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk, C5-C6, brachial plexus injury; waiters tip)

12

No lactation postpartum, absent menstration, cold intolerance

Sheehan syndrome (pituitary infarction)

13

Nystagmas, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple Sclerosis

14

Oscillating slow/fast breathing

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

15

Painful blue fingers/toes, hemolytic anemia

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

16

Painful, pale, cold fingers/toes

Raynaud phenomenon (vasospasm in extremeties)

17

Painful, raised red lesions on pad of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

18

Painless erythematous lesions on palms and soles

Janeway lesions (ineffective endocarditis, septic emboli/ microabscesses)

19

Painless jaundice

Cancer of pancreatic head obstructing bile duct

20

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

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

21

Pancreatic, pituitary, parathyroid turmors

MEN 1 (autosomal dominant)

22

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

Nephrotic syndrome

23

Pink complexion, dyspnea, hyperventilation

"Pink Puffer" (emphysema; centriacinar [smoking], panacinar [alpha-1-trypsin deficiency].

24

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

Fanconi syndrome (proximal tubular reabsorption defect)

25

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

Lichen planus

26

Ptosis, miosis, anhidrosis

Horner Syndrome (sympathetic chain lesion)

27

Pupil accommodates but doesn't react

Argyll Roberson pupil (neorosyphilis)

28

Rapidly progressive leg weakness that ascends following GI/UR infection)

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

29

Rash on palms and soles

Coxsackie A, secondary syphyilis, Rocky Mountain spotted fever

30

Recurrent colds, unusual eczema, high serum IgE

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

31

Red 'currant jelly' sputum in alcoholic or diabetic patients

Kleibsiella pneumoniae

32

Red 'currant jelly' in stools

Acute mesenteric ischemia (adults), intussusception (infants)

33

Red, itchy, swollen rash of nipple/areola

Paget disease of breast (sign of underlying neoplasm)

34

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

35

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

von Hippel-Landau disease (dominant tumor suppresor gene mutation)

36

Resting tremor, rigidity, akinesia, postural instability

Parkinson disease (nigrostriatal dopamine depletion)

37

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

38

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

39

Severe RLQ pain with palpation of LLQ

Rosving sign (acute appendicitis)

40

Severe RLQ pain with rebound tenderness

McBurney sign (acute appendicitis)

41

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

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

42

Single palmar crease

Down syndrome

43

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dyenin arm defect affecting cilia)

44

Skin hyperpigmentation, hypotension, fatigue

Addison disease, primary adrenocortical insufficiency causes increase ACTH and increase alpha MSH production

45

Slow, progressive muscle weakness in boys

Becker musclular dystrophy (x-linked missense mutation in dystrophin; less severe than Duchenne)

46

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

Koplik spots (measels; rubeola virus)

47

Smooth, flat, moist, painless white lesions on genitals

Conndylomata lata (secondary syphilis)

48

Splinter hemorrhages in fingernails

Bacterial endocarditis

49

Strawberry tongue

Scarlet fever, Kawasaki disease, toxic shock syndrome

50

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

Turner syndrome (45, XO)

51

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

52

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Scurvy (vit C deficiency; cant hydroxylate proline/lysine for collagen synthesis

53

Swollen, hard, painful finger joints

Osteoarthritis (osteophytes on PIP; Bouchards nodes; DIP (Heberden nodes)

54

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

55

Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant ret mutation)

56

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

57

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

58

Unilateral facial drooping involving forehead

Facial nerve (LMN CN VII palsy)

59

Urethritis, conjuctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

60

Vascular birthmark (port-wine-stain)

Hemangioma (benign, but associated with Sturge-Weber syndrome)

61

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss Syndrome (alchoholic and bulimic patients)

62

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (Tropheryma whipplei)

63

"Worst headache of my life"

Subarachnoid hemorrhage