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Flashcards in Clinical Presentation/Diagnois or Disease Deck (118):
1

Abdominal Pain, ascites, Hepatomegaly

Budd-Chiari syndrome( posthepatic venous thrombosis)

2

Achilles tendon xanthoma

Familial hypercholesterolemia ( decreased LDL receptor signaling)

3

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

4

Anterior "drawer sign"

Anterior cruciate ligament injury

5

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin defect)

6

Athlete with polycythemia

2ndary to erythropoietin injection

7

Back pain, fever, night sweats, weight loss

Pott disease (vertebral TB)

8

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

9

Blue sclera

Osteogenesis imperfecta (type I collagen defect)

10

Bluish line on gingiva

Burton line(lead poisoning)

11

Bone pain, bone enlargement, arthritis

Paget disease of bone ( increased osteoblastic and osteoclastic activity)

12

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

13

"Butterfly" facial rash and Raynaud phenomenon in a young female

Systemic lupus erythematosus

14

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

Neurofibromatosis type I( +pheochromocytoma, optic gliomas)

15

Cafe-au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormality

McCune-Albright syndrome (mosaic G-protein signaling mutation)

16

Calf pseudohypertrophy

Muscular dystrophy ( most commonly Duchenee): X-linked recessive deletion of dystrophin gene

17

"Cherry-red spots" on macula

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation, central retinal artery occlusion

18

Chest pain on exertion

Angina( Stable: with moderate exertion; unstable: with minimal exertion)

19

Chest pain, pericardial effusion/friction rub/ persistent fever following MI

Dressler syndrome ( autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

20

Child uses arms to stand up from squat

Gowers sign (Duchenee muscular dystrophy)

21

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

"Slapped cheeks" (erthema infectiosum/fifth disease: parvovirus B19)

22

Chorea, dementia, caudate degeneration

Huntington disease ( autosomal dominant CAG repeat expansion)

23

Chronic exercise intolerance with myalgia, fatique, painful cramps, myoglobinuria

McArdle disease ( muscle glycogen phosphorylase deficiency)

24

Cold intolerance

Hypothyoidism

25

Conjugate lateral gaze palsy, horizontal diplopia

Internuclear opthalmoplegia (damage to MLF; bilateral ( multiple sclerois), unilateral (stroke)

26

Coninous "machine-like" murmur

PDA (close with indomethacine; open or maintain with misoprostol)

27

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Graves disease {pretibial})

28

Infant with hypoglycemia, failure to thrive and hepatomegaly

Cori disease ( debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

29

Dark purple skin/mouth modules in a patients with AIDS

Kaposi sarcoma, associated with HHV-8

30

Deep, Labored breathing/Hyperventilation

Kussmaul respiration (diabetic ketoacidosis)

31

Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

32

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine [vit B1] deficiency)

33

Dog or cat bit resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

34

Dry eyes, dry mouth, arthritis

Sjogren syndrome (autoimmune destruction of exocrine glands)

35

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma

36

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (trype III collage defect)

37

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

38

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + maliganant T cells in blood)

39

Facial muscle spasm upon tapping

Chvostek sign (hypocalcemia)

40

Fat, female, forty and fertile

Cholelithiasis (gallstones)

41

Fever, Chills, headache, myalgia following antibiotic treatment for syphilis

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

42

Fever, Cough, conjuctivitis, coryza, diffuse rash

Measles

43

Fever, night sweats, weight loss

B symptoms (staging) of lymphoma

44

Fibrous plaques in soft tissue of penis

Peyronie disease ( connective tissue disorder)

45

Gout, intellectual disability, self-mutilating behavior in a boy

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

46

Green-yellow rings around peripheral cornea

Kayser-Fleischer rings (copper accumulation from Wilson disease)

47

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk- mainly GI

48

Hepatosplenomegaly, osteoprosis, neurologic symptoms

Gaucher disease (glucocerebrosidase deficiency)

49

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in collagen IV)

50

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluber-Bucy syndrome (bilateral amygdala lesion)

51

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

52

Hyporeflexia, hypotonia, atrophy, fasiculations

LMN damage

53

Hypoxemia, polycythemia, hypercapnia

"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

54

Indurated, ulcerated genital lession

nonpainful: chancre ( primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

55

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

Pataue syndrome (trisomy 13)

56

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

57

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

Edwards syndrome (trisomy 18)

58

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal obstruction of biliary tree)

59

Large rash with bull's-eye appearance

Erythema chronicum migrans from Ixodes tick bite ( Lyme disease: Borrelia)

60

Lucid interval after traumatic brain injury

Epidural hematoma ( middle meningeal artery reupture)

61

Male child, recurrent infections, no mature B-cells

Bruton disease ( X-linked agammaglobulinemia)

62

Mucosal bleeding and prolong bleeding time

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

63

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

64

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

Gardner syndrome (subtype of FAP)

65

Myopathy ( infantile hypertrophic cardiomyopathy), exercise intolerance

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

66

Neonate with arm paralysis following difficult birth

Erb-Duchenee palsy (superior trunk (C5-6) bracial plexus injury: "waiters tip")

67

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (pituitary infraction)

68

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

69

Oscillating slow/fast breathing

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

70

Painful blue fingers/toes, hemolytic anemia

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

71

Painful, pale, cold fingers/toes

Raynaud phenomenon (vasospasm in extremities)

72

Painful, raised red lesions on pad of fingers/toes

Osler Nodes (infective endocarditis, immune complex deposition

73

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

74

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

75

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

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

76

Pancreatic, pituitary, parathyroid tumors

MEN1 (autosomal dominant)

77

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

Nephrotic syndrome

78

Pink complexion, dyspnea, hyperventilation

"Pink puffer" (emphysema: centriacinar [smoking], panacincar [a1-antitrypsin deficiency])

79

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

Fanconi syndrome (proximal tubular reabsorption defect)

80

Pruritic, purple, polygonal planar papules and plaques

Lichen planus

81

Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

82

Pupil accommodates but doesn't react

Argyll Robertson pupil (neurosyphilis)

83

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

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

84

Rash on palms and soles

Coxsackie A, 2ndary syphilis, Rocky Mountain spotted fever

85

Reccurrent colds, unusual eczema, high serum IgE

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

86

Red "currant jelly" sputum in alcholic or diabetic patients

klebsiella pneumoniae

87

Red "currant jelly" stuools

Acute mesenteric ischemia (adults), intussusception (infants)

88

Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underyling neoplasm)

89

Red urine in the morning, fragile RBC's

Paroxysmal nocturnal hemoglobinuria

90

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

von Hoppel-Lindau disease (dominant tumor suppresoor gene mutation)

91

Resting tremor, rigidity, akinesia, postural instablitity

Parkinson disease (nigrostriatal dopamine depletion)

92

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

93

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia

94

Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

95

Severe RLQ pain with rebound tenderness

McBurney sign (acute appendicitis)

96

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

Fanconi anemia ( gentic loss of DNA crosslink repair: often progresses to AML)

97

Single palmar crease

Down syndrome

98

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

99

Skin hyperpigmentation, hypotension, fatigue

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

100

Slow, progressive muscle weakness in boys

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

101

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

Koplik spots (measles; rebeola virus)

102

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata ( 2ndary syphilis)

103

Splinter hemorrhages in fingernails

Bacterial endocarditis

104

"Strawberry tongue"

Scarlet fever, Kawasaki disease, toxic shock syndrome

105

streak ovaries, congenital heart disease, horeseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

Turner syndrome ( 45, XO)

106

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

107

Swollen gums, mucosal bleeding, poor wound healing, petechiae

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

108

Swollen, hard, painful finger joints

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

109

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

110

Thyroid and parathyroid tumors, pheochromocytoma

MEN2A (autosomal dominant ret mutation)

111

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

112

Toe extension/fanning upon plantar scrape

Babinski sign ( UMN lesion)

113

Unilateral facial drooping involving forehead

Facial nerve ( LMN CN VII palsy)

114

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

115

Vascular birthmark (port wine stain)

Hemangioma ( benign, but associated with Struge-Weber syndrome

116

Vomiting blood following gastroesphageal lacerations

Mallory-Weiss syndrome ( alcoholic and bulimic patients)

117

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (Tropheryma whipplei)

118

"Worst headache of my life"

Subarachnoid hemorrhage