Classic Presentations Flashcards
Given the clinical presentation provide the diagnosis/disease (etiology) (118 cards)
1
Q
Mucosal bleeding and prolonged bleeding time
A
Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
2
Q
Thyroid and parathyroid tumors, pheochromocytoma
A
MEN 2A (autsomal dominant ret mutation)
3
Q
Erythroedema, lymphadenopathy, hepatosplenomegaly, atypical T cells
A
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
4
Q
Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration
A
Niemann-Pick disease (genetic sphingomyelinase deficiency)
5
Q
Hepatosplenomegaly, osteoporosis, neurologic symptoms
A
Gaucher’s disease (glucocerebrosidase deficiency)
6
Q
Hypoxemia, polycythemia, hypercapnia
A
“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)
7
Q
Large rash with bullseye appearance
A
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
8
Q
Achilles tendon xanthoma
A
Familial hypercholesterolamis (dec LDL receptor signaling)
9
Q
Painful, raised lesions on pad of fingers/toes
A
Osler’s noder (infectious endocarditis, immune complex deposition)
10
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
11
Q
Single palmar crease
A
Simian crease (Down syndrome)
12
Q
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
A
MEN 2B (autosomal dominant ret mutation)
13
Q
Blue sclera
A
Osteogenesis imperfecta (type 1 collagen defect)
14
Q
Red urine in the morning, fragile RBC’s
A
Paroxysmal nocturnal hemoglobinuria
15
Q
Child uses arms to stand up from squat
A
Gower’s sign (Duchenne muscular dystrophy)
16
Q
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
A
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
17
Q
Positive anterior “drawer sign”
A
Anterior cruciate ligament (ACL) injury
18
Q
Rash on palms and soles
A
Coxsackie A, 2o syphilis, Rocky Mountain spotted fever
19
Q
Fever, cough, conjunctivitis, coryza, diffuse rash
A
Measles/Rubeola (Morbillivirus [paramyxomirus])
20
Q
Dark purple skin/mouth nodules
A
Kaposi’s sarcoma (usually AIDS patient [MSM]: associated w/ HHV-8
21
Q
Pupil accomodates but doesn’t react
A
Argyll Robertson pupil (neurosyphilis)
22
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear opthalmoplegia (damage to MLF [medial longitudinal fasiculus]; bilateral [multiple sclerosis], unilateral [stroke])
23
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (autosomal dominant CAG repeat expansion)
24
Q
Swollen, hard, painful finger joints
A
Osteoarthritis (osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes])
25
Fever, night sweats, weight loss
B-sypmtoms (staging) of lymphoma
26
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi's syndromes (proximal tubular reabsorption defect)
27
Facil muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
28
Infant w/ hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
29
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
30
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
31
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
32
Severe RLQ pain with palpation of LLQ
Rovsing's sign (acute appendicitis)
33
Bone pain, bone enlargement, arthritis
Paget's disease of bone (increased osteoblastic and osteoclastic activity)
34
Slow, progressive muscle weakness in boys
Becker's muscular dystophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
35
Male child, recurrent infections, no mature B cells
Bruton's diesase (X-linked agammaglobulinemia)
36
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friedrichsen syndrome (meningococcemia)
37
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
38
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
39
Streak ovaries, congenital heart disease, horeshow kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
40
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombus)
41
"Worst headache of my life"
Subarachnoid hemorrhage
42
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
43
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle's disease (muscle glycogen phosphorylase deficiency)
44
Bluish line on gingiva
Burton's line (lead poisoning)
45
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
46
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
47
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein pupura (IgA vasculitis affecting skin and kidneys)
48
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
49
Hamartomatous GI polyps, hyper-pigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstructions; increased cancer risk, mainly GI)
50
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
51
Lucide interval after traumatic brain injury
Epidural hematoma (middle menigeal artery rupture)
52
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
53
Multiple colon polyps, osetomas/soft tissue tumors, impacted/supernumary teeth
Gardner's syndrome (subtype of Familial Adenomatous Polyposis [FAP])
54
Hyperphagia, hypersexuality, hyperorality, hyperdocility,
Kluver-Bucy syndrome (bilateral amygdala lesion)
55
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromacytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
56
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
57
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion)
58
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
59
"Butterfly" facial rash and Raynoud's phenomenon in a young female
Systemic lupus erythematous
60
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
61
Cutaneous/dermal edema due to connective tissue depletion
Myxedema (caused by hypothyroidism, Graves' disease [pretibial])
62
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfans syndrome (fibrillin defect)
63
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyam syndrome (HGPRT deficiency, X-linked recessive)
64
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
65
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
66
Continuous "machinery" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
67
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
68
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
69
Weight loss, diarrhea, arthitis, fever, adenopathy
Whipple's disease (*Tropheryma whipplei*)
70
Severe RLQ with rebound tenderness
McBurney's sign (appendicitis)
71
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
72
"Cherry-red spot" on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
73
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
74
Cafe-au-lait spots, polyostotic fibrous dysplasia, precosious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
75
Urethritis, conjunctivits, arthritis in a males
Reactive arthritis (Reiter's syndrome) associated with HLA-B27
76
Resting tremor, rigidity, alkinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
77
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
78
Periorbital and/or peripheral edema, poteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
79
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency
80
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type 1 (+pheochromocytoma, optic gliomas)
81
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
82
Hyporeflexia,hypotonia, atrophy, fasciculations
LMN (lower motor neuron) damage
83
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha 1,4-glucosidase deficiency)
84
Splinter hemorrhages in fingernails
Bacterial endocarditis
85
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene
86
Pancreatic, pituitary, and parathyroid tumors
MEN 1 (autosomal dominant)
87
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
88
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect)
Edward's syndrome (trisomy 18)
89
Deep labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
90
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
91
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
92
Rapidly progressive leg weakness that ascends following GI/URI
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
93
Green-yellow rings around peripheral of cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
94
Dysphagia (esophageal webs) glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
95
Athlete w/ polycythemia
2ndary to erythropoietin injection
96
Toe extension/fanning upon plantar scrape
Babinski sign (upper motor neuron [UMN] lesion)
97
Red "currant jelly" sputum in alcoholic or diabetic patients
*Klebsiella pneumoniae*
98
Cold intolerance
Hypothyroidism
99
Indurated, ulcerated, genital lesion
Non-painful: chance (primary syphilis, Treponema pallidium) Painful, with exudate: chancroid (Haemophilus ducreyi)
100
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granuloma)
101
Red "currant jelly" stool
Acute mesenteric ischemia (adults), intussusception (infants)
102
Unliateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
103
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
104
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
105
Hyperreflexia, hypertonia, Babinski sign present
UMN (upper motor neuron) damage
106
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
107
Back pain, fever, night sweats, weight loss
Pott's disease (vertebral tuberculosis)
108
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles/rubeola [paramyxovirus])
109
Elastic skin, hyper-mobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
110
Skin hyperpigmentation, hypotension, fatigue
Addison's disease (1o adrenocortical insufficiency causes both increased ACTH and alpha-MSH production)
111
Child w/ fever later develops red rash on face that spreads to body
"Slapped checks" (erythema infectiosum/fifth disease: parvovirus B19)
112
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
113
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by *Mycoplasma pneumoniae*, infectious mononucleosis)
114
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
115
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
116
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2o syphilis)
117
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
118
Dog or cat bite resulting in infection
*Pasteurella multocida* (cellulitis at inoculation)
