Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd chiari syndrome (posthepatic venous thrombus)
2
Q
Achilles tendon xanthoma
A
familial hypercholesterolemia (dec LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic disection, hyperflexible joints
A
Marfans Syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
EPO injection
6
Q
Backpain, fever, night sweats, weight loss
A
Pott’s Disease (vertebral tuberculosis)
7
Q
Bilateral hilar adenopathy, uveitis
A
sarcoidosis (noncaseating granulomas)
8
Q
Blue Sclera
A
Osteogenesis Imperfecta (collegen 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 of bone (inc osteblastic and osteoclastic activity)
11
Q
Bounding pulse, diastolic heart murmur, arthritis
A
Aortic regurgitation
12
Q
“butterfly” facial rash and raynauds phenomenon in a young female
A
systemic lupus erythematosus
13
Q
cafe au lait spots, lisch nodules (iris hamartoma)
A
Neurofibromatosis Type I (+pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+bilateral acoustic neuromas)
14
Q
cafe au lait spots, polyostolic fibrous dysplasia, precocious puberty
A
McCune-Albright syndrome (mosaic G-protien signaling mutation)
15
Q
Calf pseudo-hypertrophy
A
Muscular Dystrophy (MC Duchenne's) X-linked recessive deletion of dystrophin gene
16
Q
“Cherry-red spot” on macula
A
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina (staple: moderate exertion, unstable: minimal exertion)
18
Q
Chest pain, pericardial effusion/friction rub, persisten fever following MI
A
Dressler’s syndrome
auto immune mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode
19
Q
Child uses arms to stand up from a squat
A
gowers sign
Duchenne muscular dystrophy
20
Q
Child with fever develops a red rash on face that spread to body
A
“slapped checks” (erythma infectiousum/fifth disease: parvo B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal dominant)
CAG repeat
22
Q
Chronic exercise intolaerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdles disease (muscle glycogen phosphyrlase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear opthalmoplegia (damage to MLF: bilateral [multiple sclerosis], unilateral [stroke])
25
Continuous "machinery" heart murmur
PDA
| closes with indomethacin; open with misoprostol/PGE1
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, grave's disease [periorbital]
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDs patient; HHV-8)
28
deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
pellagra (niacin [vit B3] deficiency)
30
dilated cardiomyopathy, edema, polyneuropathy
wet beriberi (thiamine [vit B1] deficiency)
31
dog or cat bite resulting in infection
pasteurella 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 progress to esophageal squamous carcinoma)
34
Elastic skin, hypermobility of of joints
Ehlers-Danlos Syndrome (Type III collagen defect)
35
Enlarged, hard left supraclavicular node
virchow's node (abdominal mets)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
37
Facial muscle spasm on tapping
Chvostek's sign (hypocalcemia)
38
Fate, female, forty, fertile
Acute cholelithiasis (bile duct blockage)
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid release of spirochetes result in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
measles (morbillivirus)
41
Fever, night sweats, weight loss
B symptoms (lymphoma)
42
Fibrous plaques in soft tissues of penis
Peyronie's disease (connective tissue disorder)
43
Gout, mental retardation, self-mutilation behavior in boy
Lesch-Nyhan syndrome
| (HGPRT deficiency) X-linked recessive
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from wilson's disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
| genetic benign polyposis can cause bowel obstruction; inc cancer risk
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's Disease
| glucocerebrosidase def
47
Hereditary nephritis, sensorineural hearing loss, cataracts
```
Alport syndrome
(mutation in alpha chain of collagen type 4)
```
48
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-bucy syndrome (bilateral amygdala lesion)
50
hyperrefleia, hypertonia, positive babinski
UMN damgage
51
Hypertension, hypokalemia, metabolic alkalosis
conn's syndrome
52
hyporeflexia, hypotonia, atrophy
LMN damage
53
Hypoxemia, polycythemia, hyprcapnia
"Blue bloater"
| Chronic bronchitis: hyperplasia of mucous cells)
54
Indurated, ulcerated genital lesions
Nonpainful: chancre (Primary syphilis, Treponema pallidum)
| Painful, with exudate: chancroid (Hameophilus ducreyi)
55
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-pick disease (genetic sphinogomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive, and hepatomegaly
cori's disease (deb ranching enzyme deficiency)
57
Infant with microcephaly, rocker bottom feet, clenche d hands, and structural heart defect
Edward's syndrome (trisomy 18)
58
Keratin pearls on skin biopsy
Squamous cell carcinoma
59
Large rash with bull's-eye apperance
Erythema chronicum migrans from Ixodes tick bite (lyme disease: Borrelia)
60
Lucid interval after traumatic brain injury
Epidermal hematoma (MMA rupture)
61
Male child, recurrent infections, no mature B cells
Burton's disease (x-linked agammaglobininemia)
62
Mucousal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIa/IIIa
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Garner's Syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
pompe's disease
| lysosomal alpha-1,4-glucosidase deficiency
65
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegeners (C-ANCA)
| Goodpastures (anti-basement membrane ABs)
66
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiters tip")
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
68
Nystagmus, intention tremor, scannin speech, bilateral intranuclear opthalmoplegia
Multiple Sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respiration
| central apnea in CHF or Inc intracranial pressure
70
Painful blue fingers/toes, hemolytic anemia
Cold agglutination disease
| autoimmune hemolytic anemia by M. penumoniae, infectious mononucleosis
71
painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasms in extremities)
72
Painful raised red lesions on palms and soles
Osler's nodes
| infective endocarditis
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
74
Painless jaundice
Cancer of the pancreatic head obstucting the bile duct
75
palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting kidney's)
76
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
77
Pink complexion, dyspnea, hyperventilation
"pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin def])
78
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
79
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
80
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
81
Pupil accommodates but doesn't react
Argyll Roberson pupil (neurosyphilis)
82
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie a, Secondary syphalis, rocky mountain spotted fever
84
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome: neutophil chemotaxis abnormality)
85
Red "current jelly" sputum in alcoholic or diabetic pt
Klebsiella pneumoniae
86
Red, itchy, swollen rash of nipple/areola
paget's disease of the breast (represents underlying neoplasm)
87
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
88
Renal Cell carcinoma (bilateral), hemangioblastomas, anigomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor supressor gene mutation)
89
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
90
Retinal hemorrhages with pale center
Roth's spots (bacterial endocarditis)
91
Sever jaundice in neonate
Crigler-Najjar syndrome (congenital unconjucated hyperbilirubinemia)
92
Sever RLQ apin with rebound tenderness
McBurney's Sign (appendicitis)
93
Short Stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemai (genetic loss of DNA crosslink repair; often progresses to AML)
94
Single palm crease
Simian Crease (down syndrome)
95
Situs inversus, chronic sinusitisus, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
96
Skin hyperpigmentation
Addison's disease
| primary adrenocortical insufficiency causes inc ACTH and alpha-MSH production
97
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (x-linked missnese mutation in dystrophin; less severe thean duchenne's)
98
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
99
smooth, flat, moist white lesions on genitals
Condylomata lata (secondary syphilis)
100
splinter hemorrhages in fingernails
bacterial endocarditis
101
Strawberry tongue
scarlet fever, kawaski disease, toxic shock syndrome
102
steak ovaries, congenital heart disease , horeshoe kidney, cystic hygroma at birth
Turner Syndrome (45XO, short stature, webbed neck, lymphedema)
103
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
104
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vit C def: can't hydoxylate proline/lysine for collagen synth)
105
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [bouchard's nodes], DIP [heberden's nodes]
106
systolic ejection murmur (creschendo-decrescendo)
Aortic valve stenosis
107
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
108
Thyroid tumor, pheochromocytoma, ganglioneuromatosis
MEN 2B (automal dominant ret mutation)
109
Toe extension/fanning upon plantar scrape
Babinski Sign (UMN lesion)
110
Unilateral facial drooping involving forehead
Bell's Palsy (LMN CN VII palsy)
111
Urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
112
Vascular birthmark (port-wine-stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
113
Vomiting blood following esophagogastric lacerations
Mallory-weiss Syndrome (alcoholic and bulimic patients)
114
"waxy" casts with very low urine flow
chronic end stage renal disease
115
WBC casts in urine
Acute Pyelonephritis
116
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (tropheryma whippelii)
117
"worst headache of my life"
subarachnoid hemorrhage
