Classic Presentations Flashcards
(116 cards)
1
Q
Abdominal pIn, Ascites, Hepatomegaly
A
Budd Chiari Syndrome- post hepatic venous thrombosis
2
Q
Achilles tendon xanthoma
A
Familial Hypercholesterolemia- Dec LEL receptor signaling
3
Q
Adrenal Hemorrhage, Hypotension, DIC
A
Waterhouse Friedrichsen syndrome- meningococcemia
4
Q
Arachnodactyly, lends dislocation, aortic dissection, hyperflexible joints
A
Marfan Syndrome- fibrillin syndrome
5
Q
Athlete with polycythemia
A
secondary to EPO injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease- vertebral Tb
7
Q
Bilateral hilar LAD, uvevitis
A
Sarcoidosis- noncaseating granulomas
8
Q
blue sclera
A
Osteogenesis Imperfecta- Type 1 collegen defect
9
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
10
Q
Butterfly facial rash and raynaud phenomenon in a young female
A
SLE
11
Q
Cafe-au - lait spots, Lisch nodules (iris hamartomas)
A
NFB type 1 + pheochromocytoma + optic gliomas
12
Q
Cafe-au-lait spots, polycystic fibrous dysplasia, percocious puberty, multiple endocrine abnormalities
A
McCune- Albright syndrome- mosaic G protein signaling mutation
13
Q
Calf pseudohypertrophy
A
Muscular dystrophy (normally Duchenne’s): X linked recessive deletion of dystrophin gene
14
Q
Cherry red spot macula
A
tay sachs- ganglioside accumulation
Niemann Pick- sphingomyelin accumulation
central retinal artery occlusion
15
Q
Chest pain on exertion
A
Angina- stable= with moderate exertion, unstable= minimal exertion.
16
Q
Chest pain, pericardial effusion/ friction rub, persistent fever following MI
A
Dressler’s syndrome- AI mediated post MI fibrinous pericarditis 1-12 weeks after an episode
17
Q
Child uses ams to stand up from squat (Gower’s sign0
A
Duchenne muscular dystrophy
18
Q
Child with a fever that later develops red rash on face that spreads to the body
A
slapped cheeks= erythema infectosum/ fifth disease= parvovirus B19)
19
Q
Chorea, dementia, caudate degeneration
A
Huntingdon disease- CAG repeat expansion, AD
20
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, and myoglobinuria
A
McArdle’s disease= muscle glycogen phosphorylase deficiency
21
Q
Cold intolerance
A
Hypothyroidism
22
Q
Conjugate lateral gaze palsy, Horizontal diplopia
A
NO- damage to MLF, bilat MS, or unilateral stroke
23
Q
Continuous machinery heart murmus
A
PDA- close with indomethacin, open or maintain with misoprostol
24
Q
Cutaneous/dermal edema due to CT tissue deposition
A
Myxedema from hypothyroidism, pretibial myxedema= Graves disease
25
Dark Purple Skin/ Mouth Nodules
Kaposi's sarcoma, associated with HHV-8, in AIDS
26
Deep, Labored breathing, hyperventilation
Kussmal breathing- diabetic ketoacidosis
27
Dermatitis, Dementia, Diarrhea
Pellagra= Niacin/ B3 deficiency
28
Dilated Cardiomypoathy, edema, alcoholism or malnutrition
Wet Beriberi= Thiamin/ B1 deficiency
29
Dor or Cat bite resulting in infection
Pasturella multocida- cellulitis at inoculation site
30
Dry eyes, Dry mouth, arthritis
| cant see, can't spit, can't climb shit
Sjogrens syndrome- autoimmune destruction of exocrine glands
31
Dysphagia (esophogeal webs), glossitis, Fe deficiency anemia
Plummer Vinson Syndrome that may progress to esophogeal squamous cell dysmotility
32
Elastic skin, hypermotibility of joints
Ehlers- Danlos Syndrome- type III collagen defect
33
enlarged, hard left supraclavicular LN
virchows node- abdominal mets
34
Erythroderma, LAD, hepatosplenomegaly, atypical T cells
sezary syndrome- cutaenous T cell lymphoma or mycosis fungoides
35
facial muscle spasm on tapping
Chvostec sign- hypocalcemia
36
Fat, female, forty, and fetile
risk factors for cholelithiasis (cholesterol gallstones)
37
Fever, chills, HA, myalgia following antibiotics for syphillis
Jarisch- herxheimer rxn= rapid lysis of spirochetes resulting in toxin release
38
fever, cough, conjuctivitis, coryza, diffuse rash
Measles (morbillovirus)
39
Fever, night sweats, weight loss
B symptoms- staging of lymphoma
40
fibrous plaques in soft tissue of penis
Peyronies disease (CT tissue disorder)
41
Gout, MR, self mutilating behavior in a boy
Lesh- Nyhan syndrome- HGPRT deficiency- X recessive
42
Green- yellow rings around peripheral cornea
Kayser Fleisher rings= Cu buildup in Wilson's disease
43
Hamartomatous GI pyolyps, hyperpigmentation of mouth/feet/hands
Peutz- Jeger's syndrome- inherited, benign polyposis that can cause bowel obstruction, inc cancer risk, mostly GI
44
Hepatosplenomegaly, osteoperosis, neurologic symptoms
Guacher's disease- glucocerebrosidase deficiency
45
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome- mutation in alpha chain oc collagen IV
46
Hyperphasia, Hypersexuality, Hyperorality, Hyperdocility
Kluver- Bucy syndrome- bilateral amygdala lesion
47
Hyperreflexia, hypertonia, babinski's sign
UMN lesion
48
Hyporelfexia, hypotonia, atrophy, fasciculations
LMN damage
49
Hypoxemia, polycythemia, hypercapnia
COPD- blue bloater, hyperplasia of mucous cells
50
Indurated, Ulcerated genital lesions
Non painful= primary syphillis, chancre- treponema pallidum
| Painful with exudate= Chancroid- Haemophilis ducreyi
51
Infant with left lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome- trisomy 13
52
Infant with FTT, hepatosplenomegaly, and neurodegeneration
Niemann Pick disease- genetic sphingomyelinase deficiency
53
Infant with with hypoglycemia, FTT, and Hepatomegaly
Cori disease- deficiency of debranching enzyme
54
Infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edward syndrome Trisomy 18
55
Jaundice, palpable, distended, and non tender gall bladder
Courvoisier's sign- distal obstruction of biliary tree
56
Large rash with bull's eye appearance
Erythema Chronicum migrans from ioxdes tick- lyme disease, borellia
57
Lucide interval after traumatic brain injury
Epidural hematoma- MMA rupture
58
Male child, recurrent infections, no mature B cells
Bruton's disease ( X- linked agammabulinemia)
59
Mucosal bleeding and prolonged bleeding time
Glanzman's thrombocytopenia- defected in platelet aggregation due to lack of GpIIb/IIIa
60
Muffled heart sounds, distended neck veins, hypotension
Becks triad of cardiac temponade
61
Multiple colon polyps, osteomas/ soft tissue tumors, impacted supernumeray teeth
Gardner's syndrome- subtype of FAP
62
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease- lysosomal alpha 1,4 glucosidase deficiency
63
Neonate with arm paralysis following long difficult birth
erb- duchenne palsy- superior trunk C5-C6 brachial plexus injury= waiters tip
64
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome- pituitary infarction
65
Nystagmus, intention tremor, scanning speech, bilateral INO
MS
66
oscillating slow/ fast breathing
Cheyne Stokes respirations- central apnea in CHF or inc ICP
67
Painful blue fingers/toes, hemolytic anemia
cold agglutinin disease- AI hemolytic anemia caused by M. Pneumonia, or infections mono
68
Painful, raised red lesions on pads of fingers and toes
Osler's node- infective endocarditis, immune complex deposition
69
Painless erythematous lesions on palms and soles
Janeway lesions- infective endocarditis, septic emboli, microabscesses
70
Painless Jaundice
Cancer of the pancreatic head obstructing the bile duct
71
Palpable purpura on buttocks/ legs, joint pain, abdominal pain in a child, hematuria
Henoch Schonlein purpura- IgA vasculitis of skin and kidneys
72
Pancreatic, pituitary, and parathyroid tumors
MEN 1- AD
73
Periorbital and/ or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
74
Pink complexion, dyspnea, hypoventialtion
pink puffer- emphysema.
75
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconis syndrome- proximal tubular reabsorption defect
76
Positie anterior drawer sign
ACL injury
77
Puritic, purple, polygonal, planar papules and plaques- the 6 P's
Lichen Planus
78
Ptosis, Miosis, Anhydrosis
Horner's syndrome- SNS chain lesion
79
Pupil accommodates, but doesn't react
Argyll Robertson pupil- neurosyphyllis
80
Rapidly progressive leg weakness that ascents following GI/ Upper respiratory infections
GBS- Acute Autoimmune inflammatory demylenating polyneuropathy
81
Rash on Palms and Soles
Coxackie A, secondary syhphilis, Rocky Mountain Spotted fever
82
Recurrent Colds, unusual eczema, high serum IgE
Hyper IgE syndrome- Job's Syndrome- neutrophil chemotaxis abnormality
83
Red "currant jelly" sputum in an alcoholic or diabetic patient
Klebsiella Pneumoniase
84
Red "currant jelly" stool
Acute mesenteric ischemia- adults
| intusssception- intant
85
Red, itchy, swollen rash or nipple or areola
Paget's disease of the breast- represents an underlying neoplasm
86
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemaglobinuria
87
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von hipple lindau disease- dominant TSG mutation
88
resting tremor, rigidity, akinesia, postural instability
PD
89
Retinal hemorrhages with pale centers
roth spots- bacterial endocarditis
90
Severe Jaundice in Neonate
Crigler- Najjar syndrome congenital uncongigated hyperbilirubinemia
91
severe RLQ pain with plapation of LLQ
Rovsing's sign- acute apendicitis
92
Severe RLQ with rebound tenderness
McBurney's point- acute appendicitis
93
Short stature, inc incidence of turmos/ leukemia, aplastic anemia
Fanconi's anemia- genetic loss of DNA crosslink repair, often progresses to AML
94
Single Palmar crease
Simian crease- Down Syndrome
95
Situs inversus, chronic sinusitis, bronchiectasis, infertility
kartagener's syndrome- dynein arm defect of cilia
96
skin hyper-pigmentation, hypotension, fatigue
addison's disease- primary adrenocortical insufficiency causes increase of ACTH and alpha MSH production
97
slow, progressive muscle weakness in boys
Becker's muscular dystrophy- X linked missense mutation in dystrophin, less severe than Duchenne's
98
small, irregular red spots on buccal/inguinal mucosa with blue-white centers
koplic spots- measles- rubeola virus
99
smooth, flat, moist, painless white lesions on genitals
condyloma lata, secondary syphilis
100
splinter hemorrhages in fingernails
bacterial endocarditis
101
"strawberry tongue"
scarlet fever, kawasaki disease, toxic schock syndrome
102
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lympedema
Turner syndrome- 45, XO
103
sudden swollen/ painful big toe joint, tophi
Gout/ Podagra- hyperuricemia
104
swollen gums, mucosal bleeding, poor wound healing, spots on skin
scurvy- vitamin C defeciency- cant hydroxylate proline and lysine for collagen synthesis
105
swollen, hard, painful finger joints- PIP AND DIP
Osteoarthritis- osteophytes on PIP (broucahrd's nodes), DIP (Herberden's nodes)
106
Systolic ejection murmur- crescendo/decrescendo
aortic valve stenosis
107
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A- AD ret mutation
108
thryroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B- AD ret mutation
109
Toe extenstion, fanning upon planta scrape
babinski sign- UMN lesion
110
Unilateral facial drooping involving forehead
facial nerve palsy- LMN CN VII
111
Urethritis, conjuctivitis, arthritis in male
reactive arthritis assoc with HLA- B27
| cant see, cant pee, cant climb a tree
112
Vascular birthmark (port wine stain)
hemangioma- benign but associated with sturge weber syndrome
113
vomiting blood following gastroesophogeal lacerations
mallory- weiss syndrome- alcoholic and bulemic patients
114
weight loss, diarrhea, arthritis, fever, adenopathy
whipple disease- Trophyerma whippeli
115
worst headache of my life
SAH
116
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FEVERSS
Fever
Erythema Marginatum
Valvular damage
ESR increase
Red hot joints (migratory polyarthritis)
Subcutaneous nodules
Syndenham's chorea
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Rheumatic fever
