Classic Presentations Flashcards
(116 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiary syndrome (post-hepatic vein thrombosis)
2
Q
Cutaneous/dermal edema due to connective tissue deposition
A
Myxedema (hypothyroidism, Graves Disease - pretibial)
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (dec LDL receptor signaling)
4
Q
Continuous “machine-like” heart murmur
A
PDA (treat with indomethacin to close, misoprostol to keep open)
5
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichson Syndrome (meningococcemia)
6
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral - multiple sclerosis, unilateral - stroke)
7
Q
Anterior “drawer sign” +
A
Anterior cruciate ligament injury
8
Q
Cold intolerance
A
Hypothyroidism
9
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan Syndrome (fibrillind defect)
10
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
11
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
12
Q
Chorea, dementia, caudate degeneration
A
Huntington Disease (autosomal dominant CAG repeat expansion)
13
Q
Back pain, fever, night sweats, weight loss
A
Potts Disease (vertebral TB)
14
Q
Child with fever later develops red rash on face that spreads to body
A
Erythema infectiosum/Fifth’s disease (“slapped cheek rash”) with Parvovirus B19
15
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
16
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
17
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
18
Q
Chest pain, pericardia effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
20
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion, unstable: with minimal exertion)
21
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (inc osteoblastic & osteoclastic activity)
22
Q
“Cherry red spots” on macula
A
Tay-Sach’s disease (ganglioside accumulation), Niemann-Pick disease (sphingomyelin accumulation), central retinal artery occlusion
23
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
24
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
25
"Butterfly" facial rash and Raynaud phenomenon in young female
Systemic Lupus Erythematosus
26
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright Syndrome (mosaic G protein signaling mutation)
27
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
28
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi's sarcoma (HHV 8)
29
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick Disease (genetic sphingomyelinase deficiency)
30
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
31
Infant with cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
32
Dermatitis, dementia, diarrhea
Pellagra (vitamin B3 niacin deficiency)
33
Indurated, ulcerated genital lesion
Painless: Chancre: primary Syphilis
| Painful with exudate: Chancroid: Haemophilus ducreyi
34
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beri beri (vitamin B1 thiamine deficiency)
35
Hypoxemia, polycythemia, hypercapnia
"Blue bloaters" (chronic bronchitis: hyperplasia of mucous cells)
36
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
37
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN lesion
38
Dry eyes, dry mouth, arthritis
Sjogren's Syndrome (autoimmune destruction of exocrine glands)
39
Hyperreflexia, hypertonia, Babinski sign present
UMN lesion
40
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson Syndrome (can lead to esophageal squamous cell carcinoma)
41
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
42
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
43
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome (type IV collagen mutation)
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
46
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary Syndrome (mycosis fungoides + atypical T cells in blood)
47
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, inc cancer risk, mainly GI)
48
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
49
Green-yellow rings around peripheral cornea
Kayser-fleischer rings (copper accumulation in Wilson disease)
50
Fat, female, forty, fertile
Cholelithiasis (gallstones)
51
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
52
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
53
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
54
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
55
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
56
Infant with hypoglycemia, failure to thrive, hepatomegaly
Cori disease (debranching enzyme deficiency, Von Gierke disease (glucose-6-phosphate-dehydrogenase deficiency)
57
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic ricketsk
Fanconi syndrome (proximal tubular reabsorption defect)
58
Infant with microcephaly, rocker bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
59
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])
60
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
61
Periorbital and/or peripheral edema, proteinuria, hypoalbuminuria, hypercholesterolemia
Nephrotic syndrome
62
Large rash with bull's eye appearance
Erythema chronicum migrans (from Ixodes tick bite: Lyme disease, Borrelia borgdorferi)
63
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
64
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery)
65
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch Schonlein purpura (IgA vasculitis affecting skin and kidneys)
66
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
67
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
68
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
69
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
70
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
71
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
72
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
73
Oscillating slow/fast breathing
Cheyne-Stokes respiration (central apnea in CHF or inc intracranial pressure)
74
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4 glucosidase deficiency)
75
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
76
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
77
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
78
Pruritic, purple, polygonal, planar papules and plaques (6 P's)
Lichen planus
79
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
80
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
81
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes] & DIP [Heberden nodes] joints)
82
Pupil accommodates but doesn't react
Argyll-Robertson pupil (neurosyphilis)
83
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydrolyze proline/lysine for collagen synthesis)
84
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy, ascending)
85
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
86
Rash on palms and soles
Coxsackie A, Secondary Syphilis, Rocky Mountain Spotted Fever
87
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45 XO)
88
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
89
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
90
Red "currant jelly" sputum in alcohol or diabetic patients
Klebsielle pneumoniae
91
Splinter hemorrhages in fingernails
Bacterial endocarditis
92
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
93
Smooth, flat, moist, painless white lesions on genitals
Condyloma lata (secondary syphilis)
94
Red, itchy, swollen rash of nipple/areola
Paget disease of breast (sign of underlying neoplasm)
95
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles, rubeola virus)
96
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
97
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
98
Renal cell carinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel Lindau disease (dominant tumor suppressor gene mutation)
99
Skin hyperpigmentation, hypotension, fatigue
Addison disease (primary adrenocortical insufficiency, causes inc ACTH and alpha-MSH prod)
100
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
101
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
102
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
103
Single palmar crease
Down syndrome
104
Severe jaundice in neonates
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
105
Short stature, inc incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair, often progresses to AML)
106
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
107
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
108
"Worst headache of my life"
Subarachnoid hemorrhage
109
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
110
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
112
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
113
Toe extension/fanning upon plantar scrape
Babinsky sign (UMN lesion)
114
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
115
Unilateral facial drooping involving forehead
Facial nerve palsy (LMN CN VII)
116
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis (assoc w HLA-B27)
