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FA RR > FA RR - Clinical Presentation/Disease DX > Flashcards

FA RR - Clinical Presentation/Disease DX Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd Chiari Syndrome (posthepatic venous thrombosis)

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2
Q

Achilles tendon xanthoma

A

Familial Hypercholesterolemia (DEC LDL receptor signaling)

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3
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen Syndrome (meningococcemia)

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4
Q

Anterior drawer sign (+)

A

ACL injury

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5
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan Syndrome (fibrillin defect)

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6
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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7
Q

Back pain, fever, night sweats, weight loss

A

Pott Disease (vertebral TB)

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8
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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9
Q

Blue sclera

A

Osteogenesis Imperfecta

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10
Q

Bluish line on gingiva

A

Burton Line (lead poisoning)

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11
Q

Bone pain, bone enlargement, arthritis

A

Paget Disease of bone (INC osteoblastic & osteoclastic activity)

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12
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic Regurgitation

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13
Q

Butterfly facial rash & Raynaud phenomenon in a young female

A

SLE

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14
Q

Cafe au lait spots, Lisch nodules (iris hamartoma)

A

Neurofibromatosis Type I (+ pheochromocytoma, optic gliomas)

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15
Q

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

A

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

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16
Q

Calf pseudohypertrophy

A

Muscular Dystrophy; MC: Duchenne (XR deletion of dystrophin gene)

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17
Q

Cherry red spots on macula

A

Tay-Sachs (ganglioside accumulation)orNiemann-Pick (sphingomyelin accumulation)central retinal artery occlusion

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18
Q

Cherry red spots on macula

A

Tay-Sachs = ganglioside accumulationorNiemann-Pick = sphingomyelin accumulationcentral retinal artery occlusion

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19
Q

Chest pain on exertion

A

Angina- Stable: with moderate exertion- Unstable: with minimal exertion

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20
Q

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

A

Dressler Syndrome = AI mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode

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21
Q

Child uses arms to stand up from squat

A

Gowers Sign (Duchenne Muscular Dystrophy)

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22
Q

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

A

“Slapped cheeks” = Erythema Infectiosum/Fifth Disease: Parvovirus B19

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23
Q

Chorea, dementia, caudate degeneration

A

Huntington Disease (AD, CAG repeat expansion)

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24
Q

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

A

McArdle Disease (muscle glycogen phosphorylase deficiency)

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25
Q

Cold intolerance

A

Hypothyroidism

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26
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; B/L = MS, U/L = stroke)

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27
Q

Continuous machine-like heart murmur

A

PDA Close with Indomethacin Open/maintain with Misoprostol

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28
Q

Cutaneous/dermal edema d/t connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves Disease [pretibial])

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29
Q

Dark purple skin/mouth nodules in a PT with AIDS

A

Kaposi Sarcoma (associated with HHV-8)

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30
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (DKA)

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31
Q

Dermatitis, dementia, diarrhea

A

Pellagra (Niacin [B3] deficiency)

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32
Q

Dilated cardiomyopathy, edema, alcoholism ir malnutrition

A

Wet beriberi (Thiamine [B1] deficiency)

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33
Q

Dog or cat bite resulting in infection

A

Pasturella multocida (cellulitis at inoculation site)

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34
Q

Dry eyes, dry mouth, arthritis

A

Sjrogen Syndrome = AI destruction of exocrine glands

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35
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma)

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36
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos Syndrome (Type III collagen deficit)

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37
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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38
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma)orSezary Syndrome (mycosis fungoides + malignant T cells in blood)

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39
Q

Facial muscle spasm upon tapping

A

Chvostek Sign (hypocalcemia)

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40
Q

Fat, female, forty, & fertile

A

Cholelithiasis (gallstones)

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41
Q

Fever, chills, headache, myalgia following Ab treatment for syphilis

A

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

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42
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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43
Q

Fever, night sweats, weight loss

A

B symptoms (staging) of lymphoma

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44
Q

Fibrous plaques in soft tissue of penis

A

Peyronie Disease (connective tissue disorder)

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45
Q

Gout, intellectual disability, self mutilating behavior in a boy

A

Lesch-Nyhan Syndrome = HGPRT deficiency, XR

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46
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson Disease)

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47
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers Syndrome (inherited, benign polyposis can cause bowel obstruction; INC cancer risk, mainly GI)

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48
Q

Hepatosplenomegaly, osteoperosis, neurologic symptoms

A

Gaucher Disease = glucocerebrosidase deficiency

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49
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport Syndrome (mutation incollagen IV)

50
Q

Hyperphagia, hypersexuality, hyperorality hyperdocility

A

Kluver-Bucy Syndrome = B/L amygdala lesion

51
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

52
Q

Hyporeflexia, hypotonia, atrophy, fasiculations

A

LMN damage

53
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

54
Q

Indurated, ulcerated genital lesion

A

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

55
Q

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

A

Patau Syndrome (Trisomy 13)

56
Q

Infant with failure to thrive, hepatosplenomegaly, & neurodegeneration

A

Niemann-Pick Disease (genetic sphingomyelinase deficiency)

57
Q

Infant with hypoglycemia, failure to thrive, & hepatomegaly

A

Cori Disease = debranching enzyme deficiencyorVon Gierke Disease = glucose-6-phosphatase deficiency (more severe)

58
Q

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

A

Edwards Syndrome (Trisomy 18)

59
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier Sign = distal obstruction of biliary tree

60
Q

Large rash with bull’s eye appearance

A

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

61
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (MMA rupture)

62
Q

Male child, recurrent infections, no mature B cells

A

Bruton Disease (X-linked agammaglobulinemia)

63
Q

Mucosal bleeding & prolonged bleeding time

A

Glanzmann thrombasthenia = defect in platelet aggregation d/t lack of Gp IIb/IIIa

64
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck Triad of cardiac tamponade

65
Q

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

A

Gardner Syndrome (subtype of Familial Adenomatous Polyposis)

66
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe Disease = lysosomal alpha-1,4-glucosidase deficiency

67
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne Palsy (superior trunk [C5-C6] brachial plexus injury; waiter’s tip)

68
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan Syndrome (pituitary infarction)

69
Q

Nystagmus, intention tremor, scanning speech, B/L internuclear ophthalmoplegia

A

Multiple Sclerosis

70
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or INC ICP)

71
Q

Painful blue fingers/toes, hemolytic anemia

A

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

72
Q

Painful, pale, cold fingers/toes

A

Raynaud Phenomenon (vasospasm in extremities)

73
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler Nodes (infective endocarditis, immune complex deposition)

74
Q

Painless erythematous lesions on palms and soles

A

Janeway Lesions (infective endocarditis, septic emboli/microabscesses)

75
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing the bile duct

76
Q

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

A

Henoch-Schonlein Purpura (IgA vasculitis affecting skin & kidneys)

77
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN I (AD)

78
Q

Hypoxemia, polycythemia, hypercapnia

A

“Blue bloater” = chronic bronchitis: hyperplasia of mucous cells

79
Q

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

A

Nephrotic syndrome

80
Q

Pink complexion, dyspnea, hyperventilation

A

“Pink puffer” = Emphysema- Centriacinar = smoking- Panacinar = alpha1-antitrypsin deficiency

81
Q

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

A

Fanconi Syndrome = proximal tubular reabsorption defect

82
Q

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

A

Fanconi Syndrome = proximal tubular reabsorption defect

83
Q

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

A

Lichen Planus

84
Q

Ptosis, miosis, anhydrosis

A

Horner Syndrome = sympathetic chain lesion

85
Q

Pupil accommodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

86
Q

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

A

Guillain-Barre Syndrome = acute AI inflammatory demyelinating polyneuropathy

87
Q

Rash on palms & soles

A

Coxsackie A, secondary syphilis, Rocky Mountain Spotted Fever

88
Q

Recurrent colds, unusual eczema, high serum IgE

A

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

89
Q

Red currant jelly sputum in alcoholic or diabetic PTs

A

Klebsiella pneumoniae

90
Q

Red currant jelly stools

A

Acute mesenteric ischemia (adults)orIntussusception (infants)

91
Q

Red, itchy, swollen rash of nipple/areola

A

Paget Disease of breast (sign of underlying neoplasm)

92
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

93
Q

Renal cell carcinoma (B/L), hemangioblastomas, angiomatosis, pheochtomocytoma

A

von Hippel-Lindau Disease = dominant tumor suppressor gene mutation

94
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson Disease = nigrostriatal dopamine depletion

95
Q

Retinal hemorrhages with pale centers

A

Roth Spots = bacterial endocarditis

96
Q

Severe jaundice in neonate

A

Crigler-Najjar Syndrome = congenital unconjugated hyperbilirubinemia

97
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing Sign = acute appendicitis

98
Q

Severe RLQ pain with rebound tenderness

A

McBurney Sign = acute appendicitis

99
Q

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

A

Franconi Anemia = genetic loss of DNA crosslink repair; often progresses to AML

100
Q

Single palmar crease

A

Down Syndrome

101
Q

Situs invertus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener Syndrome = dynein arm defect affecting cilia

102
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison Disease = primary adrenocortical insufficiency causes INC ACTH & INC alpha-MSH production

103
Q

Slow, progressive muscle weakness in boys

A

Becker Muscular Dystrophy = X-linked missense mutation in dystrophin; less severe than Duchenne

104
Q

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

A

Koplik Spots = measles; rubeola virus

105
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

106
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

107
Q

Strawberry tongue

A

Scarlet FeverKawasaki DiseaseToxic Shock Syndrome

108
Q

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

A

Turner Syndrome (45 XO)

109
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

110
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy = Vitamin C deficiency (can’t hydroxylate proline/lysine for collagen synthesis)

111
Q

Swollen, hard, painful finger joints

A

Osteoarthritis; osteophytes on:- PIP = Bouchard Nodes- DIP = Heberden Nodes

112
Q

Systolic ejection murmur (cresendo-decresendo)

A

Aortic valve stenosis

113
Q

Thyroid & parathyroid tumors, pheochromocytoma

A

MEN 2A (AD ret mutation)

114
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN 2B (AD ret mutation)

115
Q

Toe extension/fanning upon plantar scrape

A

Babinski Sign = UMN lesion

116
Q

U/L facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

117
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

118
Q

Vascular birthmark (port-wine stain)

A

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

119
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss Syndrome (alcoholic & bulemic PTs)

120
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple Disease (Tropheryma whipplei)

121
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

FA RR (4 decks)

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