Classic Presentatios Flashcards
(118 cards)
1
Q
Abdominal Pain, Ascites, Hepatomegaly
A
Budd-Chiari Syndrome (Posthepatic venous thrombosis)
2
Q
Achilles’ tendon xanthoma
A
Familial hypercholesterolemia (Decreased LDL Receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen Syndrome (meningococcemia)
4
Q
(+) Anterior “drawer sign”
A
Anterior Cruciate Ligament Injury - Make sure you know the two attachment points: Lateral Femoral Condyle to the intercondyloid eminence of the tibia
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyper flexible joints
A
Marian Syndrome (Fibrillin defect - abnormal connective tissue)
Autosomal Dominance
6
Q
Athlete with Polycythemia
A
Secondary to erythropoietin injection
7
Q
Back pain, fever, night sweats, weight loss
A
Pott disease (vertebral TB)
8
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (Non-caseating granulomas)
9
Q
Blue sclara
A
Osteogenesis Inperfecta (Type I collagen defect)
10
Q
Bluish line on gingiva
A
Burton line (Lead poisoning)
11
Q
Bone pain, bone enlargemening, arthritis
A
Paget disease of bone (Increased Osteoblastic and Osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
“Butterfly” facial rash and raynaud phenomenon in a young female
A
Systemic Lupus Erythematosus
14
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+ pheochormocytoma, optic gliomas)
15
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene
17
Q
“Cherry-red spots” on macula
A
Tay-sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion
19
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)
20
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
21
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (Erythema infectiosum/fifth disease” parvovirus B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (autosomal dominant CAG repeat expansion)
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (msucle glycogen phosphorylase deficiency)
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (Damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
26
Continuous "machine-like" heart murmur
Patent Ductus Arteriosis (close with indomethaacin; open or maintain with misoprostol)
27
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
28
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
29
Deep, labored breathing/hyperventilating
Kussmaul respirations (diabetic ketoacidosis)
30
Dermatitis, dementia, diarrhea
Pellagra (niacine [vitamine B3] deficiency)
31
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet Beriberi (thiamine [vitamin B1] deficiency
32
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
33
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
34
Dysphagia (esophageal web), glossitis, irnon deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
35
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
36
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
37
Erythoderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungioides + malignant T cells in blood)
38
Facial muscle spasm upon tapping
Chovostek sign (hypocalcemia)
39
fat, female, forty, and fertile
Cholelithiasis (gallstones)
40
Fever, chills, headache, myalgia following following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes result in toxin release)
41
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
42
Fever, night sweats, weight loss
B symptoms (staging) lymphoma
43
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
44
Gout, intellectual disability, self-mutilation behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
45
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
46
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
47
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
48
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
51
Hyporeflexia, hypotonia, atrophy, fasciulations
LMN damage
52
Hypoxemia, polycytemia, hypercapnia
"blue bloater" (chronic bronchitis" hyperplasia of mucous cells)
53
Indurated, ulcerated genital lesion
Nonpainful: Chancre (Primary syphilis, Treponema Pallidum)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
54
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polycatyly, cutis aplasia
Patau syndrome (trisomy 13)
55
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase 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
Courvoisier sign (distal obstruction of biliary tree)
59
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme dsease: Borrelia)
60
Lucid Interval after traumatic brain injury
Epidermal 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 (PT and PTT)
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Fardner syndrome (subtype of FAP)
65
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
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 menstration, cold intolerance
Sheehan syndrome (pituitary infarction)
68
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
70
Painful blue fingers/toes, hemolytic anemia
Cold agglutination disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
71
Painful, pale, cold finders/toes
Reynaud phenomenon (vasospasm in extremities)
72
Painful, raised red lesions on pad of fingers and toes
Osler nodes (inefective endocarditis, immune complex deposition)
73
Painless erythematous lesion on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
74
painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
77
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic Syndrome
78
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphasema: centriacinar [smoking], panacinar [alpha 1-antitrypsin deficiency])
79
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (promimal tubular reabsorption defect)
80
Pruritic, purporle, polygonal planar papapules and plaques
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner syndrome (sympatheic chain lesion)
82
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends following GI/Upper respiratory infection
Guillain-Barre syndrome (actue autoimmune inflammatory demyelinating polyneuropathy)
84
Rash on palms and soles
Coxackie A, Secondary Syphilis, Rock Mountain Spotted Fever
85
Recurrent colds, unusual exczema, high serum IgE
Hyper IgE syndrome (Job 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 disease of breast (sign of underlying neoplasm)
89
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pehochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
92
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
95
Sever RLQ pain with rebound pain
McBurney sign (acute appendicitis)
96
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progression to AML)
97
Single palmar crease
Down syndrome
98
Situs inversus, chornic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotension, fatigue
Addision disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)
100
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's muscular dystrophy)
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 syphillis)
103
Splinter hemorrhages in fingernails
Bacterial endocarditis
104
"strawberry tounge"
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) due to non-disjunction
106
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
107
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvey (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
108
Swollen, hard, painful finger joints
Osteoartritis (Osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
109
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
110
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
111
Thyroid, 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, conjunctivitis, arthritis in a male
Reactive arthritis associate with HLA-B27
115
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
116
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
118
"worst headache of my life"
Subarachnoid Hemorrhage
