FA Rapid Review: Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (post hepatic venous thrombosis
2
Q
achilles tendon xanthoma
A
Familial hypercholesterolemia (decrease LDL receptor signaling)
3
Q
adrenal hemmorrhage, hypotension, DIC
A
Waterhouse-Friderichsen Syndrome (meningococcemia)
4
Q
arachnodactyly, lens dislocaiton, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrilling defect)
5
Q
athlete with polycythemia
A
Secondary to erythropoietin injection
6
Q
back pain, 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 (type I collagen defect)
9
Q
bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
bone pain, bone enlargemnt, arthritis
A
Paget’s disease of bone (increase osteoblastic and osteoclastic activity)
11
Q
bouding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
“butterfly” facial rash and Raynaud’s phenomenon in young female
A
Systemic Lupus erythematosus
13
Q
Café au lait spots, Lisch Nodules (iris hamartoma)
A
Neurofibromatosis type I (+ pheocromocytoma, optic gliomas)
14
Q
Café au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrin abnormalities
A
McCune-Albright syndrome (mosiac G-protein signalling mutation)
15
Q
calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene</p>
16
Q
“cherry-red spot” on macula
A
Tay-Sachs (ganglioside accumulation), or Neimann- Pick (sphingomyelin accumulation), central retinal artery 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, persistent fever following MI
A
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
child uses arm to stand up from squat
A
Gowers’ sign (Duchenne muscular dystrophy)
20
Q
child with fever later develops red rash on face that spreads to body
A
“slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
21
Q
chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal-dominant 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 diplopia
A
Internuclear opathmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
25
Constant "machinery" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol
26
cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hyperthyroidism, Graves' disease[pretibial])
27
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS pts [MSM]: associated with HHV-8)
28
Deep, labored breathing/ hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin 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 cell carcinoma)
34
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow's nodes (abdominal metastasis)
36
Erythroderma, lymphadenopathy, 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, and fertile
Cholelthiasis (gallstones)
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 (Morbillivirus)
41
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
44
Green-yellow rinks around peripheral cornea
Kayser-Fleisher rings (copper accumulation from Wilson's disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's 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 (bilater amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
50
Hyporeflexia, hypotonia, atrophy fasciculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnia
"blue bloater" (chronic 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, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrive, and hepatosplenomegaly
Cori's Disease (debranching enzyme deficiency
56
Infants with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards' syndrome (trisomy 18)
57
Jaundice, papable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
58
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
59
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
60
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobinemia)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggreation due to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck vein, hypotension
Beck's triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrom (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosmal alpha 1, 4 glucosidase deficiency)
65
Neonate with arm paralysis following difficult birth
Erb-Duchene Palsy (superior trunk [C5-C6] brachial 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 intracranial pressure
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
70
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospansm in extremities)
71
Painful, raised red lesions on pad of fingers/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 the pancreatic head obstructing bile duct
74
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-schonleins purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumores
MEN 1 (autosomal dominant)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic Syndrome
77
Pink complexion, dyspena, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha 1- antitrypsin deficiency])
78
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophasphatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
79
Positive anterior "drawer sing"
Anterior cruciate ligament injury
80
Pruritic, purple, polygonal planer papules and plaques (6 P's)
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
82
Pupil accommadates 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
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
85
Reccurent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's Syndrome: neutrophil chemotaxis abnormality)
86
Red "current jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
87
Red "current jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
88
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
89
Red urine in morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma (bilateral), hemanioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
Resting tremor, rigidity, akinesa, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
92
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
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 tumores/leukemia, aplastic anemia
Fanconi's syndrome (genetic loss of DNA crosslink repair; often progresses to AML)
97
Single palmar crease
Simian crease (Down syndrome)
98
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotension, fatigue
Addison's disease (primary adrenocortical insufficiency causes increase ACTH and increase alpha MSH production)
100
Slow progressive muscle weakness in boys
Becker's 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
Turner 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 (vitamin C defciency: 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 (cresendo-decrescendo)
Aortic valve stenosis
110
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
112
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
113
Unilateral facial drooping involving forehead
Facial Nerve (LMN CN VII palsy)
114
Urethritis, conjunctivits, arthritis in a male
Reactive arthritis associated with HLA B27
115
Vascular birthmark (port-wine stain)
Hemagioma (benign, but associated with Sturge-Weber syndrome)
116
Vomiting blood folling gastroesophageal lacerations
Mallory-Weiss Syndrome (alcoholic and bulimic patients)
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whipplei)
118
"worst headache of my life"
Subarachnoid hemorrhage
