classic presentations Flashcards
1
Q
abdominal pain, ascites, hepatomegaly
A
budd-Chiari syndrome
2
Q
achilles tendon xanthoma
A
familial hypercholesterolemia (decreased LDL receptor signaling
3
Q
adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome
4
Q
arachnodactlyly, lens dislocation, aortic dissectoin, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
secondary to EPO injection
6
Q
back pain, fever, night sweats, weight loss
A
Pott’s disease
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
blue sclera
A
osteogenesis imperfecta (collagen I defect)
9
Q
bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
bone pain, bone enlargement, arthritis
A
Paget’s disease (increased osteoblastic and osteoclastic activity)
11
Q
boudning pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation
12
Q
butteryfly facial rash and Raynaud’s phenomenon
A
SLE
13
Q
cafe au lait spots, Lisch nodules (iris hamartoma)
A
NF-1
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 (Duchenne’s ) x-linked recessvie deletion fo dystrophin gene
16
Q
cherry red spot on macula
A
Tay sachs (ganglioside accumulation) or Niemmann-Pick (sphingomyelin accumulation)
17
Q
chest pain on exertion
A
angina
18
Q
chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler’s syndrome (autoimmune-mediated post MI fibrinous pericarditis 1-12 wks post MI)
19
Q
child uses arms to stand up from squat
A
Gower’s sign (Duchenne muscular dystrophy)
20
Q
child with fever later develops red rash on face that spreads to body
A
slapped cheeks (erythema infectiosum/fifh disease: parvovirus B19)
21
Q
chorea, dementia, caudate degeneration
A
Huntington’s disease (AD with CAG repeat expansion)
22
Q
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
23
Q
cold intolerance
A
hypothyroidism
24
Q
conjugate lateral gaze palsy, horizontal diploplia
A
internuclear ophthalmoplegia (damage to MLF; bilateral [MS] unilateral [stroke])
25
continuous machinery heart murmur
PDA (close with indomethacin, open or maintain with misoprostol)
26
cutaneous/dermal edema due to connective tissue deposition
myxedema (hypothroidism, Grave's disease [pretibial]
27
dark purple skin/mouth nodules
Kaposi's sarcoma (usuallyAIDS patients [MSM] assoc with HHV-8])
28
deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
dermatitis, dementia, diarrhea
Pellagra (niacin[B3] deficiency)
30
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamine [B1]deficiency)
31
dog or cat bite resulting in infection
pasteruella multocida (cellulitis at inoculation site)
32
dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
33
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progresss to esophageal squamous cell carcinoma)
34
elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
36
erythroderma, LAD, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
37
facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
38
fat, female, forty, fertile
Cholelithiasis
39
fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
fever, cough, conjunctivitis, coryza, diffuse rash
measles
41
fever, night sweats, weigh loss
B symptoms (staging) of lymphoma
42
fibrous plques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
gout, mental retardation, self mutilation in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
44
green-yellow rings around perpheral cornea
Kayser-FLeischer rings (copper accumulation from Wilson's disease)
45
Hamartomatous GI polyps, hyperpigmentationof mouth, feet, hands
Peutz-Jeghers syndrome (inherited benign poyposis can cause bowel obstruciton , increased cancer risk, mainly GI)
46
hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
47
Herditary nephritis, sensorinerual hearing loss, cataracts
Alport sydnrome (mutation of alpha chain of collage IV)
48
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
hyperreflexia, hypertonia, Babinski present
UMN damage
50
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
51
hypoxemia, polycycthemia, hypercapnia
blue bloater (chrnoic bronchitis; hyperplasia of mucous cells)
52
indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilis, Treponema pallidum)
| painful, with exudate: chancroid (Haemophilus ducreyi)
53
infant with cleft lip/palate, microcephaly, or holoprosencephaly, polydactlyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
infant with failure to thrive, hepatosplenomegaly,a nd neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
56
infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
57
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruciton fo biliary tree)
58
large rash with bull's eye apearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease :Borrelia)
59
Lucid interval after traumatic brian injury
epidural hematoma (middle meningeal artery rupture)
60
male child, recurrent infections, no mature B cells
Bruton's disease ( x-linked agammaglobulinemia)
61
mucosal bleeding and prolonged bleeding time
Glnzman'ns thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa
62
muffled heart sounds, distened neck veins, hypotension
Beck's triad of cardia tamponade
63
multiple colon polyps, osteomas/ soft tissue tumors, impacted/supernumery teeth
Gardner's syndrome (subtype of FAP)
64
myopathy (infantile hypertrophic caridomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
65
neonate with arm paralysis follownig difficult birth
Erb-Duchenne palsy (superior trunk [C5-c6] bracila plexus injury; waiter's tip)
66
no lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
67
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
68
oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
69
painful blud fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumoniae, infectious mono)
70
painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
71
painful raised lesions on pad of fingers and toes
Osler's node (infective endocarditis, immune complex deposition)
72
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
73
painless jaundice
cancer of pancreatic head obstructing bile duct
74
palpable purpura on butt/legs, joint pain, abdomina pain, hematuria
Henoch, Schonlein purpura (IgA vasculitis affecting skin and kidneys)
75
pancreatic, pituitary, parathyroid tumors
MEN1 (auto dominant)
76
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
77
pink complexion, dyspnea, hyperventilation
pink puffer (emphysema: centriacinar [ smoking], panacina[ alpha 1 antitrypsin deficiency])
78
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
79
positive anterior drawer sign
ACL injury
80
pruritic, purple, polyganal, planar, papules and plaques
Lichen Planus
81
ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
82
pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
rapidly progressive leg weakness that ascends following GI/ Upper respiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
84
rash on palms and soles
Coxsackia A, secondary syphilis, Rocky Mountain spotted fever
85
recurrent colds, unusual eczema, high serum IgE
hyper IgE syndrome (Job's syndorme : neutrophil chemotaxis abnormality)
86
Red currant jelly sputum in alcoholic or diabetic patient
Klebsiella pneumoniae
87
red currant jelly stools
acute mesenteric ischemia (adults) intussusception (infants)
88
red, itchy, swollen rash of nipple/areola
Paget's disease (underlying neoplasm)
89
red urin in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
90
renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
92
retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis0
93
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia
94
severe RLQ pain with palpation of LLQ
Rovsing's sign (acute appendicitis)
95
severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
96
short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair, often progresses to AML)
97
single palmar crease
Simian crease (Down)
98
situs inverus, chronic sinusitis, bronchiectasis infertility
Kartagener's sydnrome (dynein arm defect affecting cilia)
99
skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha MSH production)
100
slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X linked missnese 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 genital
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
Turner syndrome (45, XO)
106
sudden swollen/painful big toe join, tophi
Gout/podagra (hyperuricemia)
107
swollen gums, mucosal bleeding, poor wound healing, spots on skin
scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
108
swollen, hard, painful finger joints
osteoarthritis (osteophytes on PIP [ bouchard's nodes], DIP[Heberden's nodes])
109
systolic ejection murmur(drescendo-decrescendo)
aortic valve stenosis
110
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD ret mutation)
111
thryoid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B (AD ret mutation)
112
toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
113
unilater facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
114
urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
115
vascular birhtmark (port-wine stain)
hemangioma (benign, but associated with Sturge-Weber syndrome)
116
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients )
117
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whipplei, PAS positive)
118
Worst headache of my life
subarachnoid hemorrhage
