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Classic Presentations FA Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent abx

A

C. diff. infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL signaling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friedrichsen syndrome (meningococcemia usually from Neisseria meningitidis)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Positive anterior drawer sign

A

ACL injury

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7
Q

Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

A

Marfan syndrome

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8
Q

Athlete with polycythemia

A

Exogenous EPO use

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9
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (non-caseating granulomas)

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12
Q

Black eschar on face of patient with DKA

A

Mucor or Rhizopus infection

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13
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (Pb poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increased osteoclastic and osteoblastic activity)

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16
Q

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

A

Aortic regurgitation

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17
Q

Butterfly facial rash, Raynaud phenomenon in young female

A

SLE

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18
Q

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type 1

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19
Q

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

A

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

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy (usually Duchenne, X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctive an tongue, hand and foot changes

A

Kawasaki disease (treat with IVIG and ASA)

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22
Q

Cherry red spots on macula

A

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

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23
Q

Chest pain on exertion

A

Angina (stable : with moderate exertion :: unstable : minimal exertion or at rest)

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24
Q

Chest pain, pericardial effusion, persistent fever post-MI

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months post-MI)

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25
Q

Chest pain with ST depression on EKG

A

+ troponins : NSTEMI :: - troponins : unstable angina

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26
Q

Child uses arms to stand from a squat

A

Duchenne muscular dystrophy (Gowers sign)

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27
Q

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

A

Erythema infectosum (fifth disease) “slapped-cheek appearance” caused by parvovirus B19

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28
Q

Chorea, dementia, caudate degenration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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29
Q

Chorioretinits, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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30
Q

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

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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31
Q

Cold intolerance

A

Hypothyroidism

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32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF, can be unilateral or bilateral)

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33
Q

Continuous “machine-like” heart murmur

A

Patent ductus arteriosus (close with indomethacin, keep open with PGE analogues)

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34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Graves disease (pre-tibial))

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right sided valvular lesions and increased 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in AIDS patient

A

Kaposi sarcoma, associated with HHV-8

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37
Q

Deep, labored breathing/hyperventilation

A

DKA (Kussmaul respirations)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (B3 deficiency)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (B1 deficiency)

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40
Q

Dog or cat bite resulting in infection

A

Pasturella multocida (cellulitis at inoculation site)

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjögren syndrome

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42
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (risk of squamous cell carcinoma)

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43
Q

Elastic skin, hypermobile joints, increased bleeding tendency

A

Ehler-Danlos syndrome (type V collagen defect, if vascular subtype then type III collagen defect)

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44
Q

Enlarged, hard left supraclavicular node

A

Virchow node, abdominal metastasis

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45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

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46
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

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

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47
Q

Facial spasm upon tapping

A

Chvostek sign (hypocalcemia)

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48
Q

Fat, female, forty, fertile

A

Gallstones

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49
Q

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

A

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

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50
Q

Fever, cough, conjunctiva, coryza, diffuse rash

A

Measles

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51
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

52
Q

Fibrous plaques in soft tissue of penis with curvature

A

Peyronie disease (CT disorder)

53
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Cu)

54
Q

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

A

Lesch-Nyhan syndrome (XLR HGPRT deficiency)

55
Q

Hamartomous GI polyps, hyperpigmentation of mouth, feet, hands and genitals

A

Peutz-Jehgers syndrome (benign polyposis, with risk of bowel obstruction and GI malignancy)

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic nectrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, senorineural hearing loss, cataracts

A

Alport syndrome (type IV collagen defect)

58
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Klüver-Bucy syndrome (bilateral amygdala lesions)

59
Q

Hyperreflexia, hypertonia, positive Babinski

A

UMN lesion

60
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN lesions

61
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (mucous cell hyperplasia, “blue bloater”

62
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre of 1˚ syphilis

Painful with exudate: chancroid of H. ducreyi

63
Q

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

A

Trisomy 13 Patau syndrome

64
Q

Infant with hypoglycemia and hepatomegaly

A

Cori disease (de-branching enzyme deficiency) or Von Gierke disease (G-6-phosphatase deficiency (more severe))

65
Q

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

A

Edwards syndrome (trisomy 18)

66
Q

Jaundice, palpable, non-distended gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

67
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme disease)

68
Q

Lucid interval following TBI

A

Epidural hematoma (MMA rupture)

69
Q

Male child, recurrent infections, no mature B-cells

A

Bruton disease (XLR agammaglobulinemia)

70
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (GpIIb/IIIa deficiency leads to poor platelet aggregation)

71
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

72
Q

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

A

Gardner syndrome (type of FAP)

73
Q

Myopathy (infantile hypertrophic CM) and exercise intolderance

A

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

74
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk injury (C5-6), waiter’s tip)

75
Q

No lactation postpartum, 2˚ amenorrhea, cold intolerance

A

Sheehan syndrome (pituitary infarct)

76
Q

Nystagmus, intention tremor, scanning speech, bilateral intranuclear ophthalmoplegia

77
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia from Mycoplasma pneumonia, EBV, CLL)

78
Q

Painful fingers/toes changing colors from white to blue to red eith cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

79
Q

Painful, raised red lesions on pads of fingers and toes

A

Osler nodes (infective endocarditis, IC deposition)

80
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

81
Q

Painless jaundice

A

Cancer of pancreatic head obstructing bile duct

82
Q

Palpable purpura on buttock on buttock and legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schönlein purpura in IgA vasculitis (skin and kidneys)

83
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant)

84
Q

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

A

Nephrotic syndrome

85
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer,” centriacinar (smoking) or panacinar (AAT deficiency))

86
Q

Polyuria, RTA T2, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (PCT resorptive failure)

87
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

88
Q

Ptosis, myosis, anhydrosis

A

Horner syndrome

89
Q

Pupil accomodate, but doesn’t react

A

Neurosyphilis (Argyll-Robertson pupil AKA Whore’s eyes)

90
Q

Rapidly progressive limb weakness ascending post GI/resp. infection

A

Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

91
Q

Rash on palms and soles

A

Coxsackie A, 2˚ syphilis, RMSF

92
Q

Recurrent cold (non-inflamed) abscess, unusual eczema, high IgE

A

Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis irregularity)

93
Q

Red currant jelly sputum in alcoholic or diabetic patient

A

Klebsiella pneumonia PNA

94
Q

Red currant jelly stools

A

Acute mesenteric ischemia (adults), intussusception (kids)

95
Q

Red itchy swollen rash of nipple/areola

A

Paget disease of breast (sign of underlying neoplasm)

96
Q

Red urine in the morning and fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

97
Q

RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease (AD tumor suppressor gene mutation)

98
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

A

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

99
Q

Retinal hemorrhage with pale centers

A

Roth sports (bacterial endocarditis)

100
Q

Sever jaundice in neonate

A

Crigler-Najjar syndrome (increased UCB)

101
Q

Severe RLQ with palpation of LLQ

A

Rovsing sign (acute appendicitis)

102
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

103
Q

Short stature, café-au-lait spots, thumb/radial defects, increased incidence of leukemia/tumors, aplastic anemia

A

Fanconi anemia (genetic loss of DNA cross-link repair, often progresses to AML)

104
Q

Single palmar crease

A

Down syndrome

105
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect)

106
Q

Skin hyperpigmentation, hypotension, fatigue

A

1˚ adrenocortical insufficiency (eg Addison disease) caused by increased ACTH and alpha-MSH

107
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin)

108
Q

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

A

Koplik spots from Measles (rubeola) virus

109
Q

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

A

Condyloma lata (2˚ syphilis)

110
Q

Splinter hemorrhage in fingernails

A

Bacterial endocarditis

111
Q

Strawberry tongue

A

Scarlet fever, Kawasaki disease

112
Q

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

A

Turner syndrome (45, XO)

113
Q

Sudden swollen big toe/ tophi

114
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurcy (Vit. C deficiency; can’t hydroxylate proline/lysine for collagen synthesis)

115
Q

Swollen hand, painful finger joints

A

OA (PIP + DIP)

116
Q

Systolic ejection murmur (crescedo-decrescendo)

A

Aortic stenosis

117
Q

Telangectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangectasia)

118
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (AD RET mutation)

119
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, marfanoid habitus

A

MEN2B (AD RET mutation)

120
Q

Toe extension/fanning on plantar scarpe

A

Babinski sign (UMN lesion)

121
Q

Unilateral facial droop involving forehead

A

LMN facial nerve palsy; UMN would spare forehead

122
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

123
Q

Vascular birth mark (port wine) of the face

A

nevus flammeus (benign, but associated with Sturge-Weber syndrome)

124
Q

Hematemesis following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic or bulemic pts)

125
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease

126
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

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