Rapid Review - Classic Presentations Flashcards
1
Q
Abdominal pan, ascites, hepatomegaly
A
Budd-Chiari (post-hepatic venous thrombosis)
2
Q
Achilles Tendon Xanthoma
A
Familial Hypercholesterolemia Fucked up LDLR
3
Q
Adrenal Hemorrhage, hypotension, DIC
A
Waterhouse Friederichsen Syndrome, Meningococcus
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan Syndrome
5
Q
Athlete with Polycythemia
A
EPO injection
6
Q
Back Pain, Fever, Night Sweats, Weight Loss
A
Pott’s disease
7
Q
Bilateral hular adenopathy, uveitis
A
Sarcoidosis
8
Q
Blue Sclerae
A
Osteogenesis imperfecta; Collagen I defect
9
Q
Bluish line on gingiva
A
Burton’s line; Lead poisoning
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone; Up osteoblastic and osteoclastic activity (osteoclast problem)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic Regurgitation
12
Q
Butterfly Facial rash, Raynaud’s in a young female
A
SLE
13
Q
Café au lait spots, Lisch nodules (iris hamartomas)
A
NF1 (+ pheo, optic glioma)
14
Q
Café au lait spots, Lisch nodules (iris hamartomas)
A
NF2 (Bilateral acoustic gliomas)
15
Q
Café au lait spots, polyostic fibrous dysplasia, precocious puberty
A
McCune Albright Syndrome, Mosaic G-protein signaling mutation
16
Q
Calf Pseudohypertrophy
A
Muscular dystrophy; X-linked recessive deletion in Dystrophin gene
17
Q
Cherry-red spot on macula
A
Tay-Sachs (ganglioside accumulation), Niemann-Pick (sphingomyelin accumulation), Central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina; Stable: moderate exertion, unstable: minimal exertion
19
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)
20
Q
Child uses arms to stand up from squat
A
Gower’s sign (think Duchenne muscular dystrophy)
21
Q
Child with fever 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
Huntingon’s disease; AD CAG repeat expansion
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease; Myophosphorylase deficiency, Glycogen storage disorder type V
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy, horizontal diplopia
INO (damage to MLF) 2/2 MS if bilateral, stroke if unilateral
26
Continuous "machinery-like" murmur
PDA; (close with indomethacin, open with misoprostol)
27
cutaneous/dermal edema due to connective tissue deposition
Myxedema- caused by hypothyroidism. Periorbital? think Grave's
28
Dark Purple skin/mouth nodules
Kaposi Sarcoma; Seen in AIDS, caused by HHV-8
29
Deep, labored breathing/hyperventilation
Kussmaul Breathing (DKA)
30
Dermatitis, dementia, diarrhea
Pellagra; Niacin (B3) deficiency
31
Dilated CM, edema, polyneuropathy
wet beriberi; Thiamine (B1) deficiency
32
Dog/cat bote resulting in infection
Pasteurella Multocida; Cellulitis at inoculation site
33
Dry eyes, dry mouth, arthritis
Sjögren's syndrome; Autoimmune destruction of exocrine glands
34
Dysphagia (esophageal webs), glossitis, iron deficiency, anemia
Plummer-Vinson Syndrome- can progress to esophageal SCC)
35
Elastic skin, hypermobility of joints, bad healing
Ehlers-Danlos syndrome; Collagen III defect
36
Enlarged, hard left supraclavicular node
Virchow's node; Abdominal mets
37
Erythroderma, LAD, HSM, atypical T cells
Sézary syndrome (T-cell lymphoma) or mycosis fungoides
38
Facial muscle spasm upon tapping
Chvostek sign; Hypocalcemia
39
Fat, Female, Forty, Fertile
Acute cholelithiasis
40
Fever, chills, HA, myalgia following antibiotic antibiotic treatment for syphilis
jarisch-Herxheimer reaction; Rapid spirochete lysis causes release of toxin)
41
Fever, Cough, Conjunctivitis, Coryza, diffuse rash
Measles; Morbillivirus
42
Fever, night sweats, weight loss
B symptoms; Lymphoma
43
Fibrous plaques in soft tissue of penis
Peyronie's disease; connective tissue disorder
44
Gout, MR, self-mutilating behavior in a boy
Lesch Nyhan syndrome; HGPRT deficiency, X-linked, recessive
45
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings, wilson's disease
46
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome, genetic benign polyposis can cause bowel obstruction, increased cancer risk
47
HSM, osteoporosis, neuro Sxs
Gaucher's disease; Glucocerebrase deciciency, also think Ashkenazi Jews
48
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome; Mutation of alpha chain in collagen IV
49
Hypercoagulability, migratory DVTs and vasculitis
Trousseau's sign (adenocarcinoma of the pancreas or lung)
50
Hyperphagia, hypersexuality, hyperorality, Hyperdocility
Klüver-Bucy syndrome; Bilateral amygdala lesion
51
Hyperreflexia, hypertonia, Babinski
UMN damage
52
Hypertension, Hypokalemia, Metabolic Alkalosis
Conn syndrome
53
Hyporeflexia, hypotonia, atrophy
LMN damage
54
hypoxemia, polycythemia, hypercapnia
Chronic Bronchitis-Blue bloater, hyperplasia of mucous cells
55
Indurated, ulcerated genital lesion
Non painful: chancre (1o syph), painful, with exudate: chancroid (haemophilus ducreyi)
56
Infant with FTT, HSM, nerodegeneration
Niemann-Pick disease; Genetic sphingomyelinase deficiency, Ashkenazi Jews
57
Infant with hypoglycemia, FTT, and hepatomegaly
Cori's Dz- Debranching enzyme deficiency
58
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defects
Edward's syndrome, trisomy 18
59
Keratin Pearls on a skin biopsy
SCC
60
Large rash with bull's eye apperance
Erythema Chronicum migrans from ixodes tick bite, lyme disease, borrelia
61
Lucid interval after TBI
Epidural Hematoma- middle meningeal artery
62
Male child, recurrent infections, no mature B cells
Bruton's dz' X-linked agammaglobulinemia
63
Mucosal bleeding, prolonged bleeding time
Glanzmann's thrombasthenia; defect in GPIIb/IIIa
64
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome; subtype of FAP
65
Myopathy, infantile hypertrophic CM, exercise intolerance
Pompe's dz; lysosomal alpha1,4 glucosidase deficiency
66
Necrotizing vasculitis (lungs) and necrotizing GN
Wegener's (c-ANCA) and Goodpasture's dz (anti BM abs)
67
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy; superior trunk brachial plexus injury; waiter's tip
68
No lactation post-partum absent menstruation, cold intolerance
Sheehan's syndrome; pituitary infarction
69
Nystagmus, intention tremor, scanning speech, bilateral INO
MS
70
Oscilating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
71
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma, infectious mono)
72
Painful, pale, cold fingers/toes
Raynaud's
73
Painful, raised red lesions on palms and soles
Osler's nodes (SBE)
74
Painless erythematous lesions on palms and soles
Janeway lesions (SBE)
75
Painless Jaundice
Pancreatic Head adenocarcinoma obstructing bile duct
76
Child with palpable purpura on buttocks/legs, joint pain, abdominal pain
Henoch-Schönlein purpura; IgA vasculitis affecting skin and kidneys
77
Pancreatic, pituitary, parathyroid tumors
MEN I (AD)
78
Pink complexion, dyspnea, hyperventilation
Emphysema; pink puffer; centroacinar from smoking, panacinar from alpha1-antitrypsin deficiency
79
Polyuria, acidosis, growth failure, electrolyte imbalance
Fanconi's syndrome (proximal tubular reabsoprtion defect)
80
Positive anterior drawer sign
ACL injury
81
Ptosis, miosis, anhydrosis
horner's syndrome (sympathetic chain lesion)
82
Pupil accommodates but doesn't react
Argyll-Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends (following GI/URI)
Guillain-Barré syndrome; autoimmune acute inflammatory demyelinating polyneuropathy
84
Rash on palms and soles
Coxsacke A, 2 syphilis, Rocky Mountain Spotted Fever
85
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job's syndrome; neutrophil chemotaxis abnormality)
86
Red currant jelly sputum in alcoholic or DM pt
Klebsiella pneumoniae
87
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
88
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
89
Bilateral renal cell carcinoma, hemangioblastomas, angiomatosis, pheo
von Hippel-Landau dz; dominant tumor suppressor gene mutation
90
Resting Tremor, rigidity, akinesia, postural instability
Parkinson's disease; nigrostriatal dopamine delpletion
91
Retinal hemorrhages with pale centers
Roth's spots (SBE)
92
Severe jaundice in a neonate
Crigler-Najjar syndrome; congenital unconjugated hyperbilirubinemia
93
severe RLQ pain (Mc Burney's point) with rebound tenderness
Appendicitis
94
Short stature, increased incidence of tumors/leukemia, aplastic anemia
fanconi's anemia: genetic loss of DNA cross-link repair; often progresses to AML
95
Single palm crease
simian crease in Down syndrome
96
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome: dynein arm defect affecting cilia
97
skin hyperpigmentation
Addison's disease (1o adrenocortical insufficiency causes increased ACTH and MSH production)
98
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy: X-linked missense mutation in dystrophin, less severe than duchenne's)
99
Small, irregular red spots on buccal/lingual mucosa with blue/white centers
Koplik spots (measles; rubeola virus)
100
Smooth, flat, moist white lesions on genitals
condylomata lata (2o syphilis)
101
Splinter hemorrhages in fingernails
SBE
102
Strawberry tongue
Scarlet fever, Kawasaki, Toxic Shock Syndrome
103
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth
Turner syndrome: 45XO, short stature, webbed neck, lymphedema, coarctation
104
Sudden swollen/painful big toe joint, tophi
Podagra/gout
105
Swollen, hard, painful finger joints
Osteoarthritis
106
Osteophytes on PIP
Bouchard's nodes
107
Osteophytes on DIP
Heberden's nodes
108
Systolic ejection murmur (crescendo decrescendo)
Aortic Stenosis
109
Parathyroid and Thyroid (medullary) tumors, Pheochromocytoma
MEN 2A: AD ret mutation
110
Ganglioneuromas, Marfanoid habitus, Thyroid tumors (medullary), Pheo
MEN 2B: AD ret mutation
111
Unilateral facial drooping involving forehead
Bell's palsy; LMN CN CVII palsy
112
Urethritis, Conjunctivitis, Arthritis in a male
Reactive arthritis; associated with HLA B-27 (MHC-I)
113
Infant with port-wine stain in V1, seizures, glaucoma
Sturge-Weber syndrome
114
Vomiting blood following esophagogastric laceration
Mallory-Weiss syndrome (EtOH, Bulimia)
115
"Waxy" casts with very low urine flow
Chronic ESRD
116
WBC casts in urine
Acute Pyelo
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (trophyrema whippelii)
118
Worst headache of life
SAH
