Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukoytosis, recent abx use
A
C. difficile infx
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL receptor signaling)
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Meningococcemia (Waterhouse-Friederichsen syndrome)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Anterior drawer sign positive
A
ACL injury
7
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
Athlete with polycythemia
A
EPO injection
9
Q
Back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
Bilateral acoustic schwannomas
A
NF 2
11
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of Pt with DKA
A
Mucor or rhizopus fungal infx
13
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
14
Q
Blueish line on gingiva
A
Burton line (lead poisoning)
15
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increased osteoblastic/clastic activity - lamellar bone resembling mosaic)
16
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
“Butterfly” facial rash and Raynaud phenomenon in young female
A
SLE
18
Q
Café au lait spots, Lisch nodules (iris hamaratoma), cutaneous neurofibromas, pheochromocytomas, optic glicomas
A
NF I, pheochromocytoma, optic gliomas
19
Q
Café 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, 2/2 X-linked recessive frameshift mutation of dystrophin gene)
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
A
Kawasaki disease (treat with IVIG and ASA)
22
Q
“Cherry red spots” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (spihingomyelin accumulation), central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion/rest)
24
Q
CP, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
25
CP with ST depressions on EKG
Unstable angina (troponins negative) or NSTEMI (troponins positive)
26
Child uses arms to stand up from squat
Gowers sign (Duchenne MD)
27
Child with fever later develops red rash on face that spreads to body
Slapped cheek aka erythema infectiosum/fifth disease - Parvovius B19
28
Chorea, dementia, caudate degeneration
Huntington's disease (autosomal dominant CAG repeat expansion)
29
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxo
30
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
Cold interolerance
Hypothyroidism
32
Conjugate horizontal gaze palsy, horizonal diplopia
INO (damage to MLF; may be unilateral or bilateral)
33
Continuous "machine-like" murmur
PDA (close with indomethacin, open/maintain with PGE)
34
Cutaneous/dermal edema due to CT deposition
Myxedema (hypothyroidism, Graves disease [pre-tibial])
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)
36
Dark purple skin/mouth nodules in a Pt with AIDS
Kaposi sarcoma, HHV-8
37
Deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
38
Dermatitis, dementia, diarrhea
Pellagra (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
41
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
42
Dysphagia (esophageal webs), glossitis, Fe-deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
43
Elastic skin, hypermobility of joints, incresed bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype)
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 Sézary syndrome (mycosis fungoides + malignant T cells in blood)
47
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
48
Fat, female, forty, fertile
Cholelithiasis (gallstones)
49
Fever, chills, headache, myalgia following abx treatment for syphilis
Jarisch-Herxheimer reaction 2/2 rapid lysis of spirochetes resulting in endotoxin release
50
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
51
Fever, night sweater, weight loss
B symptoms of lymphoma
52
Fibrous plaques in soft tissue of penis w/ abnormal curvature
Peyronie disease (CT disorder)
53
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (Wilson disease, copper metabolism)
54
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomaous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased CA risk, mainly GI)
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (type IV collagen mutation)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia, hypertonia, + Babinski
UMN lesion
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN lesion
61
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
62
Indurated, ulcerated genital lesion
Painless: chancre of primary syphilis, treponema pallidum; Painful, with exudate: chancroid (haemophilus ducreyi)
63
Infant with "cherry red" spot on macula, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
64
Infant with cleft lip/palate, microcephaly, or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
65
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (G6P deficiency, more severe)
66
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
67
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree, likely pancreatic CA)
68
Large rash with bull's eye apperance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
69
Lucid interval after TBI
Epidural hematoma (middle meningeal artery rupture)
70
Male child, recurrent infection, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
71
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
72
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
73
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
74
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
75
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-6] brachial plexus injury: "waiter's tip")
76
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
77
Nystagmus, intention tremor, scanning speech, bilateral INO
Multiple sclerosis
78
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)
79
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
80
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
81
Painless erythematous lesions on palms/soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
82
Painless jaundice
Cancer of pancreatic head obstructing bile duct
83
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
84
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
85
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
86
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])
87
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of proximal convoluted tubule)
88
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
89
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
90
Pupil accomodates but doesn't react
Argyll-Robinson pupil (neurosyphilis)
91
Rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
92
Rash on palms and soles
Coxsackie A, secondary syphilis, RMSF
93
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
94
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
95
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (children)
96
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (underlying malignancy)
97
Red urine in morning, fragile RBCs
Paroxsymal nocturnal hemoglobinuria
98
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytosis
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
99
Resting tremor,rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of DA neurons in substantia nigra pars compacta)
100
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
101
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
102
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
103
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
104
Short stature, café au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
105
Single palmar crease
Down syndrome
106
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
107
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (e.g. Addison disease) causes increased ACTH and increased alpha-MSH production
108
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
109
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
110
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (secondary syphilis)
111
Splinter hemorrhages in fingernails
Bacterial endocarditis
112
"Strawberry tongue"
Kawasaki disease; scarlet fever
113
Streak ovaries, congenital heart disease (coarctation), horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45 XO)
114
Sudden swollein/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
115
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
116
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
117
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
118
Telangiectasias, recurrent epistaxis, skin discoloration, AVMs, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
119
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant Ret mutation)
120
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant Ret mutation)
121
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
122
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
123
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
124
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
125
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
126
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Trophyeryma whipplei)
127
"Worst headache of my life"
Subarachnoid hemorrhage
128
Asplenic patient
Encapsulated microbes, especially SHiN (S. penumo >> H. influenzae, N. meningitidis)
129
Branching rods in oral infection, sulfur granules
Actinomyces
130
Chronic granulomatous disease
Catalase positive microbes (esp. S. aureus)
131
Facial nerve palsy
Borrelia burgdorferi (Lyme)
132
Fungal infection in diabetic or immunocompromised patient
Mucor or Rhizopus spp.
133
Health care provider
HBV (needlestick)
134
Neutropenic patients
Candida (systemic) or aspergillus
135
Organ transplant recipient
CMV
136
PAS+
Whipple disease (tropheryma whipplei)
137
Pediatric infection
H. flu
138
PNA in CF, burn infx
Pseudomonas
139
Pus, empyema, abscess
S. aureus
140
Rash on hands and feet
Coxsackie A virus, Treponema pallidum, Rickettsia rickettsii
141
Sepsis/meningitis in newborn
GBS
142
Surgical wound
S. aureus
143
Traumatic open wound
Clostridium perfringes
