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STEP 1 FIRST AID REVIEW > Classic Presentations > Flashcards

Classic Presentations Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (post hepatic venous thrombosis)

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2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium Difficile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signalling)

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4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior drawer sign +

A

ACL injury

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7
Q

Arachnodactylyl, lens dislocation (upwards), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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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 (noncaseating granulomas)

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12
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A

Osteogenesis imperfecta (type 1 collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increase osteoblastic and osteoclastic activity)

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16
Q

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

A

Aortic regurgitation

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17
Q

Butterfly facial rash and Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

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18
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas

A

Neurofibromatosis type 1

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19
Q

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

A

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

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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21
Q

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

A

Kawasaki disease (treat with IVIG and ASA)

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22
Q

“Cherry-red spots” on macula”

A

Tay-Sachs (GM 2 ganglioside accumulation due to lack of Hex-A)
or
Neumann-Pick (sphingomyelin accumulation due to deficiency of sphingomyelinase)
or
Central retinal artery occlusion

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23
Q

Chest pain on exertion

A

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

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24
Q

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

A

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

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25
Q

Chest pain with ST depression on EKG

A 
Unstable angina (if neg- trop)
NSTEMI (if pos+ trop)
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26
Q

Child uses arms to stand from squat

A

Duchenne muscular dystrophy (Gower’s sign)

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27
Q

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

A

Erythema infectiosum/ fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

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28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

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29
Q

Chorioretinitis, 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 opthalmoplegia (damage to MLF; may be unilateral or bilateral)

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33
Q

Continuous “machine like” murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

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34
Q

Cutaneous/ dermal edema due to connective tissue deposition

A

Myxedema (caused by hypothyroidism, Grave’s disease if pretibial)

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35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right-sided cardiac valvular lesions, increase in 5-HIAA)

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36
Q

Dark purple skin/mouth nodules in patients with AIDS

A

Kaposi sarcoma, associated with HHV-8

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37
Q

Deep, laboured breathing / hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

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38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin -Vit B3- def)

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39
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine -VitB1- def)

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40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

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42
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal SCC)

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43
Q

Elastic skin, hyper mobility of joints, increased bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

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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 fungicides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungicides + malignant T cells in blood)

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47
Q

Facial muscle spasm upon tapping

A

Chovstek sign (hypocalcemia)

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48
Q

Fat, female, forty, fertile

A

Cholelithiasis

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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, conjunctivitis, 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 abnormal curvature

A

Peyronie disease (connective tissue disorder)

53
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer signs due to copper accumulation)

54
Q

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

A

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

55
Q

Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia

A

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

56
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis

A

Gaucher disease (glucocerebrosidase deficiency)

57
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in collagen IV)

58
Q

Hyperphagia, hyper sexuality, hyperorality, hyper docility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

59
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

60
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

61
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (hyperplasie of mucous cells, “Blue bloater”)

62
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis, treponema pallidum)

Painful, with exudate: chancroid (Haemophilus ducreyi)

63
Q

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

A

Patau syndrome (trisomy 13)

64
Q

Infant with hypoglycaemia, hepatomegaly

A

Cori disease (deb ranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)

65
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

66
Q

Large rash with bull’s-eye appearance

A

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

67
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

68
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

69
Q

Mucosal bleeding and prolonged bleeding time

A

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

70
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

71
Q

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

A

Gardner syndrome (subtype of FAP)

72
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

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

73
Q

Neonate with arm paralysis following difficult birth

A

Erg-Duchenne palsy (superior trunk C5-C6 brachial plexus injury: “waiter’s tip”

74
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

75
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

76
Q

Painful blue fingers/ toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumonia, infectious mononucleosis, CLL)

77
Q

Painful fingers/toes changing colour from white to blue to red with cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

78
Q

Painful, raised red lesions on pads of fingers/ toes

A

Osler nodes (infective endocarditis, immune complex deposition)

79
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli / microabsesses)

80
Q

Painless jaundice

A

Cancer of he pancreatic head obstructing bile duct

81
Q

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

A

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

82
Q

Pancreatic, pituitary, parathyroid tumours

A

MEN 1 (autosomal dominant)

83
Q

Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

84
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer”; centriacinar (smoking) or panacinar (alpha1-antitrypsin deficiency)

85
Q

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

A

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

86
Q

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

A

Lichen planus

87
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

88
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (Argyll Robertson pupil)

89
Q

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

A

Guillain-Barre syndrome (Acute inflammatory demyelinating polyradiculopathy subtype)

90
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

91
Q

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

A

Hyper-IgE - Job syndrome: neutrophil chemotaxis abnormality

92
Q

Red “currant jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

93
Q

Red “currant jelly” stools

A

Acute mesenteric ischema (adults), intussusception (kids)

94
Q

Red, itchy, swollen rash of nipple / areola

A

Paget disease of the breast (sign of underlying neoplasm)

95
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

96
Q

Renal cell carcinoma (bilateral), hemangioblastomas, angioblastomas, pheochromocytoma

A

von Hippel-Lindau disease (dominant tutor suppressor gene mutation)

97
Q

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

A

Parkinson disease (loss of dopaminergic neutrons in substantiated nigra pars compacta)

98
Q

Retinal hemorrhages with pale centres

A

Roth spots (bacterial endocarditis)

99
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

100
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

101
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

102
Q

Short stature, cafe au lait spots, thumb/ radial defects, increased incidence of tutors / leukaemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

103
Q

Single palmar crease

A

Down syndrome

104
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dyne arm defect affecting cilia)

105
Q

Skin hyperpigmentaiton, hypotension, fatigue

A

Primary adrenocortical insufficiency (eg Addison disease causes increased ACTH and increased alpha-MSH production)

106
Q

Slow, progressive muscle weakness in boys

A

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

107
Q

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

A

Koplik spots (measles (rubeola) virus)

108
Q

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

A

Condylomata lata (seconadary syphilis)

109
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

110
Q

“Strawberry tongue”

A

Scarlet fever ; Kawasaki disease

111
Q

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

A

Turner syndrome (45 XO)

112
Q

Sudden swollen/painful big toe joint, tophi

A

Gout / podagra (hyperuricemia)

113
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vit C deficiency; can’t hydroxylate proline / lysine for collagen synthesis)

114
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP (Bouchard notes) and DIP (Herberden nodes))

115
Q

Systolic ejection murmur (crescendo - decrescendo)

A

Aortic stenosis

116
Q

Telangectasias, recurrent epistaxis, skin discolouration, arteriovenous malformations, GI bleeding, hematuria

A

Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangectasias)

117
Q

Thyroid and parathyroid tutors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

118
Q

Thyroid tumors, pheochromochtoma, ganglioneuromatosis

A

MEN 2B (autosomal dominant RET mutation)

119
Q

Toe extension / fanning upon plantar scrape

A

Babinski sign (UMN lesion)

120
Q

Unilateral facial dropping involving forehead

A

LMN facial nerve (CN VII palsy); UMN lesions spare the forehead

121
Q

Urethritis, conjunctivitis, arthritis in males

A

Reactive arthritis associated with HLA-B27

122
Q

Vascular birthmark (port-wine stain) of the face

A

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

123
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

124
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (tropheryma whipplei)

125
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

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