Classic Presentation Flashcards
(121 cards)
1
Q
Achilles tendon xanthoma
Decrease LDL receptor signaling
A
Familial hypercholesterolemia
2
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
3
Q
Anterior “drawer sign” +
A
ACL Injury
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexibility joints
A
Marfan Syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott disease (vertebral TB)
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 line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
Increase in osteoblastic and osteoclastic activity
A
Paget disease of bone
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
“Butterfly” facial rash and Raynaud phenomenon in a young female
A
SLE
13
Q
Café-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I ( + pheochromocytoma, optic gliomas)
14
Q
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Mosaic G-protein signaling mutation
A
McCune-Albright syndrome
15
Q
Calf pseudohypertrophy
Most common muscular dystrophy
X-linked recessive
A
Duchenne (dystrophin gene defect)
16
Q
“Cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphyngomyelin accumulation)
Central retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina (stable: with mod exertion; unstable: with min exertion)
18
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
Child uses arms 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
Slapped cheeks
A
Erythema infectiosum
Fifth disease
Parvovirus B19
21
Q
Chorea, dementia, caudate degeneration
Autosomal dominant CAG repeat expansion
A
Huntington disease
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Muscle glycogen phosphorylase deficiency
A
McArdle disease
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
25
Continuous "machine-like" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
27
Dark purple skin/mouth nodules in a patient with AIDS
| Associated with HHV-8
Kaposi sarcoma
28
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
32
Dry eyes, dry mouth, arthritis
| Autoimmune destruction of exocrine glands
Sjögren syndrome
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
May progress to esophageal squamous cell carcinoma
Plummer-Vinson syndrome
34
Elastic skin, hyper mobility of joints
| Type III collagen defect
Ehlers-Danlos syndrome
35
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
```
Mycosis fungoides (cutaneous T-cell lymphoma)
Sézary syndrome (mycosis fungoides + malignant T cells in blood)
```
37
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
38
Fat, female, forty, and fertile
Cholelithiasis
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes result in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
41
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
43
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase risk, mainly GI)
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
| Glucocerebrosidase deficiency
Gaucher syndrome
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation of collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral 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
Nonpainful, ulcerated genital lesion
Chancre, lymphagranuloma venereum, granuloma inguinale
53
Painful, ulcerated genital lesion
Chancroid, herpes
54
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
55
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Genetic sphingomyelinase deficiency
Niemann-Pick disease
56
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)
57
Infant with microcephaly, rocker-bottom feet, clenched hands and structural heart defect
Edwards syndrome (trisomy 18)
58
Jaundice, palpable distended non-tender gallbladder
| Distal obstruction of biliary tree
Courvoisier sign
59
Large rash with bull's eye appearance (erythema chronicum migrans
Lyme disease (Borrelia burgdorferi)
60
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
61
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
62
Mucosal bleeding and prolonged bleeding time
| Defect in platelet aggregate due to lack of GpIIb/IIIa
Glanzmann thrombasthenia
63
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
Multiple colon polyps, osteomas/soft tissue tumors, impacted supernumerary teeth
Subtype of FAP
Gardner syndrome
65
Myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance
Lysosomal alpha 1-4 glucosidase deficiency
Pompe disease
66
Neonate with arm paralysis following difficult birth
| "Waiter's tip"
Erb-Duchenne palsy (superior trunk of C5-C6 brachial plexus injury)
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome
68
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
69
Oscillating slow/fast breathing
| Central apnea in CHF or increase ICP
Cheyne-Stokes respirations
70
Painful blue fingers/toes, hemolytic anemia
| Autoimmune disease caused by Mycoplasma pneumoniae, infectious mononucleosis
Cold agglutinin disease
71
Painful, pale, cold fingers/toes
Raynaud phenomenon
72
Painful, raised red lesions on pad of fingers/toes
| Infective endocarditis, immune complex deposition
Osler nodes
73
Painless erythematous lesions on palms and soles
| Infective endocarditis, septic emboli/microabscesses
Janeway lesions
74
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
Palpable purpura on buttocks and legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
| Autosomal dominant
MEN I
77
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
78
Pink complexion, dyspnea, hyperventilation
| Alpha 1-antitrypsin deficiency
"Pink puffer" (emphysema: centriacinar [smoking], panacinar
79
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Proximal tubular reabsorption defect
Fancompni syndrome
80
Pruritic, purple, polygonal planar papules and plaques (6P's)
Lichen planus
81
Ptosis, miosis, anhydrosis
Horner syndrome (sympathetic chain lesion)
82
Pupil accommodates but does not react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome
84
Rash on palms and soles
Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever
85
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
86
Red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
87
Red currant jelly stools
Acute mesenteric ischemia (adults), intussusception (infants)
88
Red, itchy, swollen rash of nipple/areola
| Sign of underlying neoplasm
Paget disease of the breast
89
Red urine in the morning, fragile RBC's
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma (bilateral), hemangioblatomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease
92
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
93
Severe jaundice in neonate
| Congenital unconjugated hyperbilirubinemia
Crigler-Najjar syndrome
94
Severe RLQ pain with palpation of LLQ
Rovsing sign
95
Severe RLQ pain with rebound tenderness
McBurney sign
96
Short stature, increase incidence of tumors/leukemia, aplastic anemia
Genetic loss of DNA crosslink repair; often progresses to AML
Fanconi anemia
97
Single palmar crease
Down syndrome
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Dynein arm defect affecting cilia
Kartagener syndrome
99
Skin hyperpigmentation, hypotension, fatigue
| Primary adrenocortical insufficiency causes increase ACTH and alpha-MSH production
Addison disease
100
Slow, progressive muscle weakness in boys
| X-linked missense mutation in dystrophin;less severe than Duchenne
Becker muscular dystrophy
101
Small, irregular red spots on buccal/lingual mucos with blue-white centers
Koplik spots
102
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata
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, lymphedem
Turner syndrome (45, XO)
106
Sudden swollen/painful big toe joint, tophi
Gout/podagra
107
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy
108
Swollen, hard, painful finger joints
Osteoarthritis
109
Osteophytes on PIP
Bouchard nodes
110
Osteophytes on DIP
Heberden nodes
111
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
112
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
113
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B
114
Toe extension/fanning upon plantar scrape
Babinski sign
115
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
116
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
| Rieter syndrome
117
Vascular birthmark (port wine stain)
Hemangioma (associated with Sturge-Weber syndrome)
118
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome
119
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
120
"Worst headache of my life"
Subarachnoid hemorrhage
121
Abdominal pain, ascites, hepatomegaly
| Post hepatic venous thrombosis
Budd-Chiari Syndrome
