Classic Presentations Flashcards Preview

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Flashcards in Classic Presentations Deck (55):
1

Abdominal pain, ascites, hepatomegaly

Budd Chiari

2

Athlete with polycythemia

Erythropoietin injection

3

Bilateral hilar adenopathy, uveitis

Sarcoidosis

4

Bluish line on gingiva

Lead poisoning

5

NF-1

1) Cafe au lait
2) Lische nodules -> iris hamartoma
3) Pheochromocytoma
4) Optic glioma

6

McCune Albright

1) Mosiac G-protein signaling mutation
2) Cafe au lait, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

7

Child with fever later develops red rash on face that spreads to body

Parvovirus B19

8

Conjugate lateral gaze palsy, horizontal diplopia

MLF
Bilateral -> MS
Unilateral -> stroke

9

Dry eyes, dry mouth, arthritis

Sjogren's

10

Plummer Vinson syndrome

1) Glossitis, iron-deficiency anemia, esophageal web
2) Risk of esophageal squamous cell carcinoma

11

Enlarged, hard left supraclavicular node

Virchow's triad -> abdominal met

12

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells

1) Sezary syndrome -> cutaneous T-cell lymphoma/ Mycosis fungiodes

13

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles

14

Fibrous plaques in soft tissue of penis

Peyronie's disease

15

Hamartomatous GI polyps, hyper-pigmentation of mouth, feet, hands

Peutz-Jeghers -> bowel obstruction, risk of cancer

16

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Gaucher's

17

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome -> alpha chain mutation of collagen IV

18

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver Bucy -> bilateral amygdala lesion

19

Hypoxemia, polycythemia, hypercapnia

Blue bloater -> bronchitis

20

Painful indurated, ulcerated genital lesion with exudate

Chancroid -> Haemophilus ducreyi

21

Non-painful indurated, ulcerated genital lesion

Chancre -> syphilis

22

Infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Patau syndrome (trisomy 13)

23

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Neimann-Pick

24

Infant with hypoglycemia, failure to thrive and hepatosplenomegaly

Cori's disease (debranching enzyme)

25

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Edward's syndrome (trisomy 18)

26

Jaundice, palpable distended, non-tender gallbladder

Courvoisier's sign (distal obstruction of the biliary tree)

27

Lucid internal after traumatic brain injury

Epidural hematoma -> middle meningeal

28

Mucosal bleeding and prolonged bleeding time

Glazmann's -> GpIIb/IIIa

29

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

Gardner's syndrome (subtype of FAP)

30

Infantile hypertrophic cardiomyopathy, exercise intolerance

Pompe's -> lysosomal alpha 1,4 glucosidase deficiency

31

Neonate with arm paralysis after birth

C5-C6 brachial plexus injury

32

Cheyne Stokes respirations

CHF OR increased intracranial pressure

33

Painful blue fingers and toes with hemolytic anemia

Cold agglutination disease -> mycoplasma pneumonia or infectious mononucleosis

34

Painless jaundice

Pancreatic head cancer

35

Palpable purpura on butt/legs, joint pain, abdominal pain, hematuria

Henoch-Schonlein purpura -> IgA

36

Pink completion, dyspnea, hyperventilation

Pink puffer -> emphysema

37

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

Fanconi syndrome -> proximal tubular reabsorption defect

38

Pruritic, purple, polygonal planer papules and plaques

Lichen planus

39

Pupil accommodates but doesn't react

Argyll Robertson pupil

40

Guillan Barre

1) Ascends
2) "acute autoimmune inflammatory demyelinating polyneuropathy"

41

Rash on palms and soles

1) Coxsackie
2) Secondary syphilis
3) Rocky Mountain spotted fever

42

Red current jelly stools in an adult

Acute mesenteric ischemia

43

Red urine in morning, fragile RBCs

Proxysmal nocturnal hemoglobinuria

44

VHL

1) Renal cell carcinoma (bilateral)
2) Hemangioblastomas
3) Angiomatosis
4) Pheochromocytoma

45

Retinal hemorrhage with pale center

Roth's spots -> bacterial endocarditis

46

Severe jaundice in neonate

Crigler-Najjar (unconjugated)

47

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

Fanconi's anemia -> genetic loss of DNA crosslink repair, often progresses to AML

48

Slow, progressive muscle weakness in boys

Becker's muscle dystrophy -> X-linked missense mutation in dystrophin

49

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

Koplik spots -> measles/ rubeola virus

50

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (secondary syphilis)

51

Strawberry tongue

1) Scarlet fever
2) Kawasaki's disease
3) Toxic shock syndrome

52

Swollen, hard, painful finger joints

Osteoarthritis

53

Systolic ejection murmurs (crescendo-decresendo)

Aortic stenosis

54

Unilateral dropping involving the forehead

Facial nerve (LMN) palsy

55

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's disease (tropheryma whipplei)