Rapid Review Flashcards

1
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin mutation)

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2
Q

Thyroid and parathyroid tumors, pheoc

A

MEN 2A (RET mut)

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3
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil)

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4
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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5
Q

Cutaneous flushing, diarrhea, bronchospasm, right-sided valvular lesions

A

Carcinoid syndrome

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6
Q

Chest pain on exertion

A

Angina

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7
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

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8
Q

Elastic skin, hypermobile joints, incr bleeding tendency

A

Ehlers-Danlos (type V collagen defect)

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9
Q

Cafe au lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

NF1

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10
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

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11
Q

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

A

Henoch-Schonlein purpura (IgA vasculitis)

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12
Q

Mucosal bleeding and prolonged bleeding times

A
Glanzmann thrombasthemia (lack of GpIIb/IIIa leads to impaired aggregation)
Bernard-Soulier (lack of GpIb leads to impaired plt-vWF adhesion)
Immune thrombocytopenia (anti-GpIIb/IIIa antibodies)
TTP (inhibition of defic of ADAMTS13)
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13
Q

Rapidly progressive limb weakness that ascends following GI/URI infection

A

Guillian-Barre

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14
Q

Intestinal obstruction at rectosigmoid junction in infant

A

Hirschprung (Down)

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15
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva and tongue, hand-foot changes

A

Kawasaki

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16
Q

Dark purple skin/mouth nodules in AIDS patient

A

Kaposi sarcoma (HHV-8)

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17
Q

Enlarged hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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18
Q

Pancreatic (ZE syndrome, insulinoma, VIPoma), pituitary, parathyroid tumors

A

MEN I

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19
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma) that can present with Sezary syndrome (T cells in blood) and Pautrier microabscesses

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20
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (Osteophytes:Bouchard nodes on PIP, Heberden on DIP)

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21
Q

Dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

Wet beriberi (B1 deficiency)

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22
Q

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

A

McArdle dz (skeletal muscle glycogen phosphorylase deficiency)

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23
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast

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24
Q

Red “currant jelly” sputum

A

Klebsiella pneumonia

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25
Q

Calf pseudohypertrophy

A

Muscular dystrophy

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26
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha 1,4-glucosidase defic)

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27
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis

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28
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme defic) or Von Gierke (Gluc-6-phosphatase defic)

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29
Q

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

A

Dressler syndrome

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30
Q

Continuous machine-like heart murmur

A

PDA

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31
Q

Painful raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

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32
Q

Facial muscle spasm upon tapping

A

Chvostek sign of hypocalcemia

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33
Q

Short stature, cafe au lait spots, thumb/radial defects, incr incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (loss of DNA crosslink repair)

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34
Q

Urethritis, conjunctivitis, arthritis in male

A

Reactive arthritis assoc with HLA-B27

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35
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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36
Q

Anaphylaxis after blood transfusion

A

IgA deficiency

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37
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease

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38
Q

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

A

Fanconi syndrome (dysfunction of proximal convoluted tubule)

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39
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

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40
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

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41
Q

Retinal hemorrhages with pale centers

A

Roth spots

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42
Q

Deep labored breathing/hyperventilation

A

Kussmaul respirations of DKA

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43
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis

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44
Q

Vascular birthmark (port-wine stain)

A

Nevus flammeus assoc with Sturge-Weber

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45
Q

Painful finger/toes changing color from white to blue to red with cold or stress

A

Raynaud phenomenon

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46
Q

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

A

Patau syndrome (trisomy 13)

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47
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (centriacinar from smoking, panacinar from A1AT deficiency)

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48
Q

Kyphoscoliosis, foot abnormalities (pes cavus=high arch), hypertrophic cardiomyopathy, gait ataxia, loss of position and vibration sense

A

Friedreich ataxia (frataxin mutation)

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49
Q

Back pain, fever, night sweats

A

Pott Disease

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50
Q

Bilateral acoustic schwannomas

A

NF2

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51
Q

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

A

Erythema infectiosum/fifth dz (Parvo B19)

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52
Q

Large rash with bull’s-eye

A

Erythema chronicum migrans from Ixodes bite

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53
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (Addison)

54
Q

Tay-Sachs vs Niemann-Pick

A

Both: neuro degeneration and Cherry red macular spots. Hepatosplenomegaly only with NM

55
Q

Bilateral RCC, hemangioblastoma, angiomatosis, pheo

A

VHL

56
Q

Periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

57
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

58
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

59
Q

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

A

Gardner syndrome (subtype of FAP)

60
Q

Painless jaundice

A

Cancer of pancreatic head that obstucts bile duct

61
Q

Fat, female, forty, and fertile

A

Cholelithiasis

62
Q

Nystagmus, intention tremor, scanning speech, bilateral INO

A

MS

63
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

INO from damage to MLF

64
Q

Angiokeratomas, peripheral neuropathy, glomerulopathy

A

Fabry

65
Q

Streak ovaries, congenital heart dz, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema

A

Turner

66
Q

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

A

Edwards syndrome (trisomy 18)

67
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (neutrophil chemotaxis abnormality)

68
Q

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

A

McCune-Albright (mosaic G-prot signaling mutation)

69
Q

Ab pain, diarrhea, leukocytosis, recent Abx use

A

C diff

70
Q

Dog or cat bite causing infection

A

Pasteurella multocida

71
Q

Vomiting blood following GE lacerations

A

Mallory-Weiss syndrome in alcoholics or bulimics

72
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve palsy (UMN lesions spare forehead)

73
Q

Severe RLQ pain with deep tenderness

A

McBurney sign of acute appendicitis

74
Q

Athlete with polycythemia

A

Erythropoietin injection

75
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

Peutz-Jeghers

76
Q

Anterior drawer sign

A

ACL injury

77
Q

Splinter hemorrhage

A

Bacterial endocarditis

78
Q

Slow, progressive muscle weakness in boys

A

Becker musc dystrophy

79
Q

Butterfly facial rash and Raynaud in young female

A

SLE

80
Q

Hepatosplenomegaly, pancytopenia, aseptic necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase deficiency)

81
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (conn tiss dz)

82
Q

Hypotension, muffled heart sounds, jugular venous distension

A

Cardiac tamponade (Beck’s triad)

83
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign of acute appendicitis

84
Q

Severe jaundice in neonates

A

Crigler-Najjar

85
Q

Systolic ejection murmur (cresc-decresc)

A

Aortic stenosis

86
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia

87
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condyloma lata (secondary syphilis)

88
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

89
Q

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

A

Jarisch-Herxheimer reaction

90
Q

Hyperreflexia, hypertonia, positive Babinski sign

A

UMN damage

91
Q

Inspissated fecal mass obstructing ileum in infant

A

Meconium ileus (CF)

92
Q

Golden brown rings around peripheral cornea

A

Wilson dz

93
Q

Dementia, dermatitis, diarrhea

A

Pellagra (B3 deficiency)

94
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

95
Q

Black eschar on face of patient with DKA

A

Mucor or Rhizopus infection

96
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

97
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

98
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (Type IV collage mutation)

99
Q

Single palmar crease

A

Down syndrome

100
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune anemia [IgM and complement] caused by Mycoplasma pneum, mono, CLL

101
Q

Cutaneous/dermal edema due to conn tiss deposition

A

Myxedema (caused by hypothyroidism and Graves)

102
Q

Posterior drawer sign

A

PCL injury

103
Q

Thyroid tumor, ganglioneuromas, pheo, marfanoid habitus

A

MEN 2B (RET mut)

104
Q

Dysphagia (esophageal webs), glossitis, iron defic anemia

A

Plummer-Vinson

105
Q

Sudden swollen painful big toe joint/tophi

A

Gout/podagra

106
Q

Inability to flex MCP and extend DIP and PIP joints

A

Klumpke palsy “claw hand” (inferior trunk [C8-T1] brachial plexus injury)

107
Q

Strawberry tongue

A

Scarlet fever

Kawasaki

108
Q

Red currant jelly stools

A

Acute mesenteric ischemia (adults), intussusception (kids)

109
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friederichson

110
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu (hereditary hemorrhagic telangiectasia)

111
Q

Dry eyes, dry mouth, arthritis

A

Sjogren

112
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

113
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener (dynein arm defect of cilia)

114
Q

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

A

Lesch-Nyhan (HGPRT defic) (X-linked)

115
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

116
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone

117
Q

Constipation, abdominal pain, anemia, neurologic deficits in a child

A

Lead poisoning

118
Q

Indurated, ulcerated genital lesion (painful and painless)

A

Painful: chancroid (haemophilus ducreyi)
Painless: chancre (primary syphilis)

119
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury) “waiter’s tip”

120
Q

Cherry-red spots on macula

A

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

121
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

122
Q

Krabbe vs Metachromatic leukodystrophy

A

Both: neuro degen, peripheral neuropathy. Optic atrophy only in Krabbe

123
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (Vitamin C defic: can’t hydroxylate proline/lysine for collagen synthesis)

124
Q

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

A

Koplik spots (measles/rubeola)

125
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari

126
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic regurgitation

127
Q

Child uses arms to stand up from squat

A

Gowers sign: Duchenne musc dystrophy

128
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

129
Q

Chorea, dementia, caudate degeneration

A

Huntington’s

130
Q

Sarcomas, breast cancer, brain tumor, adrenocortical carcinmoa, leukemia

A

Li-Fraumeni