First Aid 2012 Rapid Review: Classic disease presentations Flashcards
(116 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
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
EPO injections
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (non-caseating granulomas)
8
Q
Blue sclera
A
Osteogenesis imperfecta (collagen 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 (increased osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic murmur, head bobbing
A
Aortic regurgitation
12
Q
“Butterfly” facial rash, Raynaud’s phenomenon in young female
A
SLE
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartomas)
A
NF Type1 (+pheochromocytoma and optic gliomas) NF Type 2 (+bilateral acoustic neuromas)
14
Q
Cafe-au-lait spots, polyostoic fibrous dysplasia, precocious puberty
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene
16
Q
“Cherry-red” spot on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
17
Q
Chest pain, pericardial effusion/friction rub, persistent fever after MI
A
Dressler syndrome (autoimmune post MI fibrinous pericarditis, 1-12 weeks after acute episode)
18
Q
Child uses arm to stand up from squat
A
Gower’s sign (DMD)
19
Q
Child with fever develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectiosum/5th disease/parvovirus B19)
20
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease (AD CAG repeat expansion)
21
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria)
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
22
Q
Cold intolerance
A
Hypothyroidism
23
Q
Conjugate lateral gase palsy, horizontal diplopia
A
Internuclear opthalmoplegia (damage to MLF; B/L –> MS, U/L –> stroke)
24
Q
Continuos “machinery”-like murmur
A
PDA (close with indomethacin, open with misoprostol)
25
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [periorbital])
26
Dark purple skin/mouth nodules
Kaposi's sarcoma (associated with HHV-8 and HIV)
27
Deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
28
Dermatitis, dementia, diarrhea
Pellagra - Niacin (B3) deficiency
29
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi - Thiamin (B1) deficiency
30
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
31
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
32
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
33
Elastic skin, joint hypermobility
Ehlers-Danlos syndrome (type III collagen defect)
34
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
35
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides
36
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
37
Fat, female, forty and fertile
Acute cholelithiasis (bile duct blockade)
38
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
39
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
40
Fever, night sweats, weight loss
B symptoms (lymphoma)
41
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
42
Gout, mental retardation, self-mutilation behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
43
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
44
Hamartomatous GI polyps, hyperpigmentatin of mouth, feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)
45
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucoerebrosidase deficiency)
46
Hereditary nephritis, sensory neural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collage IV)
47
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (B/L amygdala lesion)
49
Hyperreflexia, hypertonia, positive Babinski sign
UMN damage
50
Hypertension, hypokalemia, metabolic alkalosis
Conn's syndrome
51
Hyporeflexia, hypotonia, atrophy
LMN damage
52
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucus cells)
53
Indurated, ulcerated genital lesion
Non-painful --> chancre (primary syphilis, Treponema pallidum)
Painful, with exudate --> chancroid (Haemophilus ducreyi)
54
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
56
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
57
Keratin pearls on skin biopsy
Squamous cell carcinoma
58
Large rash with Bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
59
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
60
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthemia (defect in platelet aggregation due to lack of GpIIb/IIIa)
62
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth)
Gardner's syndrome (subtype of FAP)
63
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
64
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-BM antibodies)
65
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, B/L internuclear opthalmoplegia
Multiple Sclerosis
68
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AIHA caused by Mycoplasma pneumoniae, infectious mononucleosis)
70
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
71
Painful, raised red lesions on palms and soles
Osler's nodes (infective endocarditis)
72
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
73
Painless jaundice
Cancer of pancreatic head obstructing bile duct
74
Palpable purpura on buttocks/legs, joint pain, abdominal pain, child
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
76
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centroacinar --> smoking, panacinar --> alpha-1 antitrypsin deficiency)
77
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (PCT reabsorption defect)
78
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
79
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
80
Pupil accommodates but does not react
Argyll Robertson pupil (neurosyphilis)
81
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
82
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
83
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
84
Red "current jelly" sputum in alcoholic od diabetic patient
Klebsiella pneumoniae
85
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
86
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
87
Renal cell carcinoma (B/L), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
88
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
89
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
90
Sever jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
91
Sever RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
92
Short stature, increased incidence of tumors/leukemias, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair, often progresses to AML)
93
Single palm crease
Simian crease (Down syndrome)
94
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting celia)
95
Skin hyperpigmentation
Addison's disease (primary adrenocortical insufficiency causes increase in ACTH and alpha-MSH production)
96
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less sever than Duchenne's)
97
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
98
Smooth, flat, moist white lesions on genitalia
Condylomata lata (secondary syphilis)
99
Splinter hemorrhages in fingernails
Bacterial endocarditis
100
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
101
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth
Turner Syndrome (45 XO, short stature, webbed neck, lymphedema)
102
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
103
Swollen gums, mucus bleeding, poor wound healing, spots on skin
Scurvy (Vitamin C deficiency --> can't hydroxylate proline/lysine for collagen syntesis)
104
Swollen hard painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
105
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
106
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
107
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
108
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
109
U/L facial drooping involving forehead
Bell's palsy (LMN CN VII palsy)
110
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
111
Vascular birth mark (port wine stain)
Hemangioma (benign, but associated with Sturge-Webber syndrome)
112
Vomiting blood following esophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
113
"Waxy" casts with very low urine flow
Chronic end-stage renal disease
114
WBC casts in urine
Acute pyelonephritis
115
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippellii)
116
"Worst headache of my life"
Subarachnoid hemorrhage
