Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd Chiari

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2
Q

Athlete with polycythemia

A

Erythropoietin injection

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3
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis

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4
Q

Bluish line on gingiva

A

Lead poisoning

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5
Q

NF-1

A

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

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6
Q

McCune Albright

A

1) Mosiac G-protein signaling mutation

2) Cafe au lait, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

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7
Q

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

A

Parvovirus B19

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8
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

MLF
Bilateral -> MS
Unilateral -> stroke

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9
Q

Dry eyes, dry mouth, arthritis

A

Sjogren’s

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10
Q

Plummer Vinson syndrome

A

1) Glossitis, iron-deficiency anemia, esophageal web

2) Risk of esophageal squamous cell carcinoma

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11
Q

Enlarged, hard left supraclavicular node

A

Virchow’s triad -> abdominal met

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12
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells

A

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

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13
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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14
Q

Fibrous plaques in soft tissue of penis

A

Peyronie’s disease

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15
Q

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

A

Peutz-Jeghers -> bowel obstruction, risk of cancer

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16
Q

Hepatosplenomegaly, osteoporosis, neurologic symptoms

A

Gaucher’s

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17
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome -> alpha chain mutation of collagen IV

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18
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver Bucy -> bilateral amygdala lesion

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19
Q

Hypoxemia, polycythemia, hypercapnia

A

Blue bloater -> bronchitis

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20
Q

Painful indurated, ulcerated genital lesion with exudate

A

Chancroid -> Haemophilus ducreyi

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21
Q

Non-painful indurated, ulcerated genital lesion

A

Chancre -> syphilis

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22
Q

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

A

Patau syndrome (trisomy 13)

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23
Q

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

A

Neimann-Pick

24
Q

Infant with hypoglycemia, failure to thrive and hepatosplenomegaly

A

Cori’s disease (debranching enzyme)

25
Q

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

A

Edward’s syndrome (trisomy 18)

26
Q

Jaundice, palpable distended, non-tender gallbladder

A

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

27
Q

Lucid internal after traumatic brain injury

A

Epidural hematoma -> middle meningeal

28
Q

Mucosal bleeding and prolonged bleeding time

A

Glazmann’s -> GpIIb/IIIa

29
Q

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

A

Gardner’s syndrome (subtype of FAP)

30
Q

Infantile hypertrophic cardiomyopathy, exercise intolerance

A

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

31
Q

Neonate with arm paralysis after birth

A

C5-C6 brachial plexus injury

32
Q

Cheyne Stokes respirations

A

CHF OR increased intracranial pressure

33
Q

Painful blue fingers and toes with hemolytic anemia

A

Cold agglutination disease -> mycoplasma pneumonia or infectious mononucleosis

34
Q

Painless jaundice

A

Pancreatic head cancer

35
Q

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

A

Henoch-Schonlein purpura -> IgA

36
Q

Pink completion, dyspnea, hyperventilation

A

Pink puffer -> emphysema

37
Q

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

A

Fanconi syndrome -> proximal tubular reabsorption defect

38
Q

Pruritic, purple, polygonal planer papules and plaques

A

Lichen planus

39
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil

40
Q

Guillan Barre

A

1) Ascends

2) “acute autoimmune inflammatory demyelinating polyneuropathy”

41
Q

Rash on palms and soles

A

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

42
Q

Red current jelly stools in an adult

A

Acute mesenteric ischemia

43
Q

Red urine in morning, fragile RBCs

A

Proxysmal nocturnal hemoglobinuria

44
Q

VHL

A

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

45
Q

Retinal hemorrhage with pale center

A

Roth’s spots -> bacterial endocarditis

46
Q

Severe jaundice in neonate

A

Crigler-Najjar (unconjugated)

47
Q

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

A

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

48
Q

Slow, progressive muscle weakness in boys

A

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

49
Q

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

A

Koplik spots -> measles/ rubeola virus

50
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

51
Q

Strawberry tongue

A

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

52
Q

Swollen, hard, painful finger joints

A

Osteoarthritis

53
Q

Systolic ejection murmurs (crescendo-decresendo)

A

Aortic stenosis

54
Q

Unilateral dropping involving the forehead

A

Facial nerve (LMN) palsy

55
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s disease (tropheryma whipplei)