Classic Presentations Flashcards
(126 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
C. diff
3
Q
Achilles tendon xanthoma
A
Familial Hypercholesterolemia (low LDL receptor signaling)
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia; N. meningitidis)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Anterior Drawer Sign
A
ACL injury
7
Q
Arachnodactyly, upward lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
Athlete w/ polycythemia
A
Erythropoietin injections
9
Q
Back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
Bilateral acoustic schwannomas
A
Neurofibromatosis type 2
11
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of DKA patient
A
Mucor or Rhizopus fungal infection
13
Q
Blue Sclera
A
Osteogenesis imperfecta (type 1 collagen defect)
14
Q
Bluish line on gingiva
A
Lead poisoning - Burton line
15
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increased osteoblastic and osteoclastic activity)
16
Q
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
Butterfly facial rash & Raynaud phenomenon in young woman
A
Systemic Lupus Erythematosus
18
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas
A
Neurofibromatosis type 1
19
Q
Unilateral cafe-au-lait spots, 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-liked recessive frameshift mutation of dystrophin gene)
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurisms, red conjunctivae and tongue, hand/foot changes
A
Kawasaki disease (tx: IVIG, aspirin)
22
Q
“Cherry red spots” on macula
A
Tay-Sachs (ganglioside accumulation ) or Niemann-Pick (sphingomyelin accumulation); central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina (stable = with moderate 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 w/ ST depressions on EKG
Unstable angina ( ø troponins) or NSTEMI ( + troponins)
26
Child uses arms to stand up from squat
Duchenne Muscular Dystrophy (Gowers sign)
27
Child w/ fever later develops red rash on face that spreads to body
Parvovirus B19 - Erythema infectiosum/fifth disease - "slapped cheeks" appearance
28
Chorea, dementia, caudate degeneration
Huntington Disease (AD; CAG repeat expansion)
29
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Skeletal muscle glycogen phosphorylase deficiency (myophosphorylase deficiency; McArdle disease)
31
Cold intolerance
Hypothyroidism
32
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
33
Continuous "machine-like" heart murmur
PDA (close w/ indomethacin; keep open w/ PGE analogs)
34
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease (pretibial))
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions; increased 5-HIAA)
36
Dark purple skin/mouth nodules in patient with AIDS
Kaposi Sarcoma, associated w/ HHV-8
37
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
38
Dermatitis, dementia, diarrhea
Pellagra (niacin (B3) deficiency)
39
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (Thiamine (B1) deficiency)
40
Dog or cat bite resulting in infection
Pasturella multocida (cellulitis at inoculation site)
41
Dry eyes, dry mouth, arthritis
Sjögren 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, increased bleeding time
Ehlers-Danlos syndrome (type V collagen defect; type III collagen defect seen in vascular subtype of ED)
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastases)
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 (gallstones)
49
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
50
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
51
Fever, night sweats, weight loss
B symptoms 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
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jaghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of the femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
58
Hyperphagia, hyper sexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
61
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells; "blue bloater")
62
Indurated, ulcerated genital lesion
Nonpainful: chancre (1º syphilis, Treponema pallidum)
| Painful, w/ exudate: chancroid (Hemophilus ducreyi)
63
Infant w/ cleft lip/palate, microcephaly/holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
64
Infant w/ hypoglycemia, hepatomegaly
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Cori disease (debranching enzyme deficiency) - less severe
Von Gierke disease (glucose-6-phasphatase deficiency) - more severe
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65
Infant w/ microcephaly, rocker-bottom feet, clenched hands, 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 w/ bulls 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 infection, no B cells
Bruton disease (X-linked agammaglobulinemia)
70
Mucosal bleeding & prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
71
Muffled heart sounds, distended neck veins, hypotension
Cardiac tamponade (Beck triad)
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 w/ 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 M. pneumoniae, infectious mononucleosis, or CLL)
78
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
80
Painless erythematous lesions on palms & soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
Painless jaundice
Cancer of pancreatic head obstructing bile duct
82
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein Purpura (IgA vasculitis affecting skin & kidneys)
83
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
84
Periorbital and/or peripheral edema, proteinuria (>3.5g), hypoalbuminuria, hypercholesterolemia
Nephrotic syndrome
85
Pink complexion, dyspnea, hyperventilation
Emphysema ("pink puffer;" centriacinar (smoker) or panacinar (alpha-1-antitrypsin deficiency))
86
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi Syndrome (multiple combined dysfunction of the PCT)
87
Pruritic, purple, polygonal planar papules & plaques (6 P's)
Lichen planus
88
Ptosis, miosis, anhydrosis
Horner syndrome (sympathetic chain lesion)
89
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
90
Rapidly progressive limb weakness that ascends, following GI/upper respiratory illness
Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
Rash on palms & soles
Coxsackie A, 2º syphilis, Rocky Mountain spotted fever
92
Recurrent cold (non inflamed) abscesses, unusual eczema, high serum IgE
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
93
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
94
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (children)
95
Red, itchy, swollen rash of nipple, areola
Paget disease of breast (sign of underlying neoplasm)
96
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
97
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
98
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons at the substantia nigra pars compacta)
99
Retinal hemorrhages w/ pale centers
Roth spots (bacterial endocarditis)
100
Severe jaundice in neonate
Crigler-Najjar syndrome (congenial unconjugated hyperbilirubinemia)
101
Severe RLQ pain w/ palpation of LLQ
Rovsing sign (acute appendicitis)
102
Severe RLQ pain w/ deep tenderness
McBurney sign (acute appendicitis)
103
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)
104
Single palmar crease
Down syndrome
105
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
106
Skin hyperpigmentation, hypotension, fatigue
1º adrenocortical insufficiency (Addison disease; causes increased ACTH and increased alpha-MSH production)
107
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than DMD)
108
Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
Koplik spots (measles (rubeola) virus)
109
Smooth, moist, painless, wart-like lesions on genitals
Condyloma lata (2º syphilis)
110
Splinter hemorrhages in fingernails
Bacterial endocarditis
111
"Strawberry tongue"
Scarlet fever
| Kawasaki disease
112
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema
Turner Syndrome (45,XO)
113
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
114
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Survy (vitC deficency: can't hydroxylate proline/lysine for collagen synthesis)
115
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes at PIP (Bouchard nodes), DIP (Heberden nodes))
116
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
117
Telangiectasis, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
118
Thyroid & parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
119
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
120
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
121
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
122
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated w/ HLA-B27
123
Vascular birthmark (port wine stain) of the face
Nevus flammeus (benign, but associated w/ Struge-Weber syndrome)
124
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic & bulimic patients)
125
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
126
"Worst headache of my life"
Subarachnoid hemorrhage
