Classic Presentations Flashcards
(125 cards)
1
Q
ABD pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis
2
Q
ABD pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium difficile infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decrease LDL receptor signaling)
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Anterior “drawer sign” +
A
Anterior cruciate ligament injury
7
Q
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
Athlete with polycythemia
A
secondary to erythropoietin injection
9
Q
Back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
Bilateral acoustic schwannomas
A
Neurfibromatosis type 2
11
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of patient with diabetic ketoacidosis
A
Mucor or Rhizopus fungal infection
13
Q
Blue sclera
A
Osteogenesis Imperfecta (type I collagen defect)
14
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
15
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increase osteoblast and osteoclast activitiy)
16
Q
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
“Butterfly” facial rash and Raynaud phenomenon in a young female
A
Systemic lupus erythematosus
18
Q
cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
Neurofibromatosis type 1
19
Q
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
20
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene
21
Q
Cervical Lymphadenopathy, desquamating rash, coronary aneurysms, red conjuctivae and tongue, hand-foot changes
A
Kawasaki disease (treat with IVIG and aspirin)
22
Q
“Cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingonyelin accumulation), central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina (stable: with modest exertion; unstable: with minimal exertion or at rest)
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)
25
Chest pain with ST depression
Unstable angina ( - troponins) or NSTEMI ( + troponins)
26
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gower sign)
27
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease ("Slapped Cheeks" appearance, cause by parvovirus B19)
28
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
29
Chorioretinitis, hydrocephalus, intracranial calcifications
congenital Toxoplasmosis
30
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal glycogen phosphorylase deficiency)
31
Cold interolerance
Hypothyroidism
32
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
33
Continuous "machine-like" murmur
PDA (close with indomethacin; keep open with PGE analog)
34
Cutaneous/dermal edema due to connective tissue deposition
myxedema (caused by hypothroidism, Graves disease [pretibial])
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increase 5-HIAA)
36
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi Sarcoma, associated with HHV-8
37
Deep, labored breathing/hyperventilation
DKA (Kussmaul respirations)
38
Dermatitis, dementia, diarrhea
Pellegra (niacin [vitamin B3] deficiency)
39
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
40
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
41
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
42
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
43
Elastic skin, hypermobility of joints, increase bleeding tendency
Ehlers-Danlos syndrome(type V collagen defect, type II collagen defect seen in vascular subtype of ED)
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
Episodic vertigo, tinnitus, hearing loss
Meniere disease
46
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
47
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
48
Fat, female, forty, fertile
Cholelithiasis
49
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
50
Fever, cough, conjuctivitis, coryza, diffuse rash
Measles
51
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
52
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
53
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
54
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands, genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly GI)
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome (mutation in collagen IV)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion
59
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasciculation
LMN damage
61
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, "blue bloater")
62
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
63
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
64
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6-phosphatase deficiency, more severe)
65
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
66
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
67
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: borrelia)
68
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
69
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
70
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
71
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
72
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
73
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
74
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury: "waiter's tip")
75
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
76
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
77
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)
78
Painful finger/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
Painful, raised red lesions on pads of fingers/tos
Osler nodes (infective endocarditis, immune complex deposition)
80
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
82
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
83
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
84
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
85
Pink complexion, dyspnea, hyperventilation
Emohysema ("pink puffer," centriacinar [smoking] or panacinar [alpha1-antitrypsin deficiency])
86
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
87
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
88
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesions)
89
Pupil accommodates but doesn't react
Neurosyphilis (Argyll Robertson pupil)
90
Rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
Rash on palms and soles
Coxsackie A, secondary to syphilis, Rocky Moutain Spotted Fever
92
Recurrent cold (noninflammed) abscess, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
93
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumonia
94
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (child)
95
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
96
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
97
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
98
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
99
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
100
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
101
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
102
Short stature, cafe au liat spots, thumb/radial defects, increase incidence of tumors/leukemia, aplastic anemia
Fanconi syndrome (genetic loss of DNA crosslink repair; often progress to AML)
103
Single palmar crease
Down syndrome
104
Situs inversis (i.e. dextrocardia), chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
105
Skin hyperpigmentation, hypotension, fatigue
Primary Adrenal Insufficiency (Addison's Disease) causes increase ACTH and increase alpha-MSH
106
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
107
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
108
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (Secondary Syphilis)
109
Splinter hemorrhages in fingernails
Bacterial endocarditis
110
"Strawberry tongue"
Scarlet fever / Kawasaki disease
111
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome ( 45, XO )
112
Sudden swollen/painful big toe, tophi
Gout / Podagra (hyperuricemia)
113
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
114
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
115
Systolic ejection murmur (crescendo-decrescendo)
Aortic Stenosis
116
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome / Hereditary Hemorrhagic Telangiectasias
117
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
118
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
119
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
120
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
121
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
122
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
123
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
124
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
125
"Worst headache of my life"
Subarachnoid hemorrhage
