Classic presentation Flashcards
(118 cards)
1
Q
abdominal pain ascites hepatomegaly
A
budd chiari syndrome - post hepatic venous thrombosis
2
Q
achilles tendon xanthoma
A
familial hypercholesterolemian dec LDL R signaling
3
Q
adrenal hemorrhage- hypotension-DIC
A
waterhouse-friderichsen syndrome- meningococcemia
4
Q
arachnodactylyl lens dislocation- aortic dissection- hyperflexable joints
A
marfans syndrome -fibrillin defect
5
Q
athlete w polycthemia
A
secondary to erythropoietin injection
6
Q
back pain fever night sweats weight loss
A
potts disease -vertebral tuberculosis
7
Q
bilateral hilar adenopathy- uveitis
A
sarcoidosis- noncaseating granulomas
8
Q
blue sclera
A
osteogenesis imperfecta type 1 collagen defect
9
Q
bluish line on gingiva
A
burtons line -lead poisoning
10
Q
bone pain- bone enlargement- arthritis
A
pagets disease of the bone- increase osteoblastic & osteoclastic activity
11
Q
bounding pulses, diastolic heart murmur- head bobbing
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aortic regurg
12
Q
butterfly facial rash, Raynouds phenomenon in young female-
A
SLE
13
Q
cafe au laits spots - lisch nodules- iris hamartoma-
A
Neurofibromatosis type 1- pheochromocytoma- optic gliomas
14
Q
cafe au lait spots - polyostotic fibrous dysplasia precocious puberty, multiple endocrine abnormalities
A
McCune albright syndrome- mosaic G protein signaling mutation
15
Q
calf pseudohypertrophy
A
muscular dystrophy most commonly Duchenne’s- Xlinked-Recessive deletion of dystrophin gene
16
Q
cherry red spot on macula
A
tay-sachs- ganglioside accumulation or niemann pick spningomyelin accumulation- central retinal A occlusion.
17
Q
chest pain on exertion
A
angina- stable with moderate exertion, unstable with minimal exertion.
18
Q
chest pain pericardial effusion/friction rub -persistant fever following MI
A
Dresslers syndrome- autoimmune-mediated post MI fibrinous pericarditis, 1-2 weeks after acute episode.
19
Q
child uses arms to stand up from squat
A
gowers sign- duschenne muscular dystrophy
20
Q
child w fever later develops red rash on face that spreads to body
A
slapped cheeks- eryethema infectiousum-5ths disease parovirus B19
21
Q
chorea, dementia, cuadate degeneration
A
huntingtons disease- AD CAG repeat expansion
22
Q
chronic exercise intolerance with myalgia fatique painful cramps myoglobinuria-
A
McArdles disease- muscle glycogen phosphorylase deficiency.
23
Q
cold intolerance
A
hypothyroidism
24
Q
conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear opthalmoplegia- damage to MLF- b/l MS or if unilateral from a stroke
25
continuous machinery heart murmur
PDA Closes with indomethacin -open or maintain w. misoprostol
26
cutaneous dermal edema due to CT deposition
myxedema caued by hypothyroidism, graves diseases- pretibial
27
dark purple skin/mouth nodules
kaposies sarcoma- usually AIDS pts MSM- associated w HHV8
28
deep labored breathing hyperventilation
kussmauls breathing diabetic ketoacidosis
29
dermatitis dementia diarrhea
pellagra - niacin(VitB3) deficiency
30
dilated cardiomyopathy- edema- alcholism or malnutrition
wet. beriberi- thiamin(Vit B1) deficiency
31
dog or cate bite results in infection
pasteurella multocida- cellulitis @ inoculation site
32
dry eyes, dry mouth arthritis-
sjorgrens syndrome- Autoimmune destruction of exocrine glands
33
dysphagia-esophageal webs- glossitis, iron deficiency anemia
plummer-vinsons syndrome- progress to esophageal squamous cell carcinoma
34
elastic skin- hypermobility of joints
ehlers Danlos syndrome- type 3 collagen defect
35
enlarged, hard left supraclavicular node
virchows node - abdominal mets
36
erythroderma- lymphadenopathy- hepatosplenomegaly- atypical T cells
Sezary syndrome- cutaneous T cell lymphoma or mycosis fungiodes
37
facial muscle spasms on tapping
chvosteks sign- hypocalcemia
38
fat female forty and fertile
cholelithiasis- gall stones
39
fever chills HA myalgia following abx tx for syphilis
Jarisch herxheimer rxn- rapid lysis of spirochetes results in toxin release
40
fever cough conjunctivitis coryza diffuse rash
measles- morbillivirus
41
fever night sweats weight loss
B symptoms staging of lymphoma
42
fibrous plaques in soft tissue of penis
peyronies disease- CT disorder.
43
gout mental retardation, self mutilating behavior in a BOY
Lesch- Nyhan syndrome- HGPRT def, X linked recessiv
44
green yellow rings around peripheral cornea
kayser fleischer rings- CU accumulation from wilsons disease
45
Hamartomatous GI polyps hyperpigmentation of mouth feet and hands
peutz jeghers syndrome inherited bening polyposis can cause bowel obstruction and increase in cancer risk mainly GI
46
Hepatosplenomegaly osteoporosis neurologic symptoms
gauchers disease glucocerebrosidase deficiency
47
hereditary nephritis sensorineural hearing loss cataracts
alport syndrome- mutation in alpha chain of collagen IV
48
hyperphagia, hypersexuality, hyperorality hyperdocility
kluver bucy syndrome- bilateral amygdala lesion.
49
hyperflexia hypertonia bainski sign present
UMN damage
50
hyperflexia hypotonia atrophy fasciculation
LMN damage
51
hypoxemia polycythemia, hypercapnia
Blue bloater- chronic bronchitis, hyperplasia of mucous cells
52
indurated ulcerated genital lesions
nonpainful- chancre- 1 syphilis Treponema pllidum. painful w/ exudae chancroid- haemophilus ducreyi
53
infant w cleft lip/ palate microcephaly or holoprosencephaly, polydactyly, cutis aplasia
patau's syndrome - trisomy 13
54
infant w failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann picks disease - genetic sphingomyelinase deficiency
55
infants with hypoglycemia, failure to thrive and hepatomegaly
Coris disease- debranching enzyme deficiency
56
infants with microcephaly rocker bottom feet clenched hands and structural heart defect.
edwards syndrome- trisomy 18
57
jaundice palpable distended non-tender gallbladder
courvoisiers sign- distal obstruction of biliary tree
58
large rash with bulls eye appearannce
erythema chronicum migrans from Ixodes tick bite- lime disease Borrelia
59
lucid interval after traumatic brain injury
epidural hematoma- middle minengeal A Rupture
60
male child recurrent infections no mature B cells
brutons disease X linked agammaglobulinemia
61
mucosal bleeding and prolonged bleeding time
Glanzmanns thrombasthenia- defect in plt aggregation due to lack of GP2b/3a
62
muffled heart sounds, distended neck veins, hypotension
becks triad of cardiac temponade
63
multiple colon polyps- osteomas/soft tissue tumor, impacted supernumerary teeth
gardners syndrome- subtype of FAP
64
myopathy infantile hypertrophic cardiomyopathy exercise intolerance
pompe's disease- lysosomal alpha 1-4 glucosidase deficiency
65
neonate w arm paralysis following difficult birth
Erb- duchenne palsy- superior trunk- C5-C6 brachial plexus injury- waitors tip
66
no lactation postpartum, absent menstruation, cold intolerance
Sheehans sundrome pituitary infarcation.
67
nystagmus intention tremore, scanning speech bilateral Internuclear opthalmoplegia
multiple sclerosis
68
oscillating slow/fast breathing
cheyne stokes respiration- central apnea in CHF or increased ICP
69
painful blue fingers toes, hemolytic anemia
cold agglutinin disease autoimmune hemoltic anemia caused by mycoplasma pneumoniae, infectious mononucleosis
70
painful pale cold finger toes
raynauds phenomenon- vasospasms in extremities
71
painful raised red lesions of pads of fingers/toes
oslers node- infective endocarditis immune complex deposition
72
painless erythematous lesions on palms and soles
janeways lesions- infective endocarditis, septic emboli, microabscesses
73
painless jaundice
cancer of pancreatic head obstructing bile duct
74
palpable purpura on buttocks legs joint pain, abdominal pain child, hematuria.
henoch schonlein purpura- IgA vasculitis affecting skin and kidneys
75
pancreatic pituitary parathyroid tumors
MEN 1 AD
76
periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
77
pink complexion, dyspnea, hyperventilation
pink puffer- emphysema-centriacinar-smoking-- panacinar - alpha1 antitrypsin deficiency
78
polyuria renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets
fanconis syndrome- Proximal tubular reabsorption defect.
79
posterior anterior drawer sign
anterior cruciate ligament injury
80
pruritic purple, polygonal planar papules and plaques- 6 Ps
lichen planus
81
ptosis miosis anhidrosis
horners syndrome- sympathetic chain lesions
82
pupil accomodates but doesnt react
argyll robertson pupil - neurosyphilis
83
rapidly progressive leg weakness that ascends following GI URT infection
guillains barre syndrome- acute autoimmune inflam. demyelinating polyneuropathy
84
rash on palms and soles
cox A, 2 syphilis, rocky mountain spotted fever
85
recurrent colds, unusual eczema high serum IgE
hyper-IgE syndrome - jobs syndrome- neutrophil chemotaxis abnormality
86
red currant jelly sputum in alcoholic or diabetic pts
Klebsiella pneumoniae
87
red currant jelly stools
acute mesenteric ischemia adults, intussusception- infants
88
red itchy swollen rash on nipple/areola
pagets disease of the breast represents underlying neoplasm
89
red urine in the morning fragile RBCs
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma-b/l hemangioblastomas, angiomatosis-pheochromocytoma
von hippel-lindaus disease- Dominant tumor suppressor gene mutation
91
resting tremor rigidity, akinesia, postural instability
parkinsons disease-nigrostriatal dopamine depletion
92
retinal hemorrhages with pale centers
roths spots- bacterial endocarditis
93
severe jaundice in neonate
criglers najjar syndrome- congenital unconjugated hyperbilirubinemia
94
severe RLQ pain with palpation of LLQ
rovsing sign- acute appendicitis
95
Severe RLQ pain w rebound tenderness
mcburneys sign- appendicitis
96
short stature, increase tumors leukemia, aplastic anemia
fanconi's anemia- genetic loss of DNA crosslink repair- often progress to AML
97
Single palmar crease
Simian crease-down syndrome-
98
situs inversus, chronic sinusitis, bronchiectasis, infertility
kartageners syndrome- dynein arm defect affecting cilia
99
skin hyperpigmentation, hypotension fatigue
addisons disease primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production
100
slow progressive muscle weakness in boys
beckers muscular dystrophy- X linked missense mutation in dystrophin, less severe than duchenne's
101
small irregular red spots on buccal lingual mucosa with blue white centers
koplik spots- measles- rubeola virus
102
smooth flat moist painless white lesions on genitals
condylomata lata- secondary syphilis
103
splinter hemorrhages in fingernails
bacterial endocarditis
104
strawberry tongue
scarlet fever, kawasaki disease toxic shock syndrome
105
streak ovaries, congenital heart disease horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
turners syndrome 45 XO
106
sudden swollen painful big toe joint tophi
gout podagra- hyperuricemia
107
swollen gums mucosal bleeding - poor wound healing spots on skin.
scurvy- vit C def -cant hydroxylate proline and lysine for collagen synthesis
108
swollen hard painful finger joints
osteoarthritis- osteophytes on PIP-bouchards nodes and DIP heberdens nodes
109
systolic ejection murmor- crescendo-decrescendo
aortic valve stenosis
110
thyroid and parathyroid tumors- pheochronocytoma
MEN2A- autosomal dominant RET mutation
111
Thyroid Tumors, ganglioneuromatosis
MEN2B autosomal dominent RET mutation
112
toe extension- fanning upon plantar scrape
babinski sign- UMN lesions
113
unilateral facial drooping involves the forehead
facial nerve LMN CN 7 palsy
114
urethritis conjunctivitis arthritis in a male-
reactive arthritis associated with HLA-B27
115
Vascular birthmark- port wine stain
hemangioma - benign but associated with sturge weber syndrome
116
vomiting blood following Gastroesophageal laceration
mallory-weiss syndrome- alcoholic or bulimic pts.
117
weight loss diarrhea, arthritis, fever adenopathy
whipples disease -- tropheryma whipplei
118
worst headache of my life
subarachnoid hemorrhage.
