First aid: Classic presentation Flashcards
(120 cards)
1
Q
Clinical presentation:
Abdominal pain, ascites, hepatomegaly
A
Diagnosis/Disease:
Budd-Chiari syndrome
(post-hepatic venous thrombosis)
2
Q
Clinical presentation:
Achilles tendon xanthoma
A
Diagnosis/Disease:
Familial hypercholesterolemia
(dec LDL receptor signaling)
3
Q
Clinical presentation:
Adrenal hemorrhage, hypotension, DIC
A
Diagnosis/Disease:
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Clinical presentation:
Anterior ‘drawer sign’ (positive)
A
Disease/Diagnosis:
Anterior cruciate ligament injury
5
Q
Clinical presentation:
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Disease/Diagnosis:
Marfan syndrome (fibrillin defect)
6
Q
CP
Athlete w/polycythemia
A
D/D
secondary to erythropoietin injection
7
Q
CP
Back pain, fever, night sweats, weight loss
A
D/D
Pott disease (vertebral TB)
8
Q
CP
Bilateral hilar adenopathy, uveitis
A
D/D
Sarcoidosis
(non caseating granulomas)
9
Q
CP
Blue sclera
A
D/D
Osteogenesis imperfecta
(type I collagen defect)
10
Q
CP
Bluish line on gingiva
A
D/D
Burton line (lead poisoning)
11
Q
CP
Bone pain, bone enlargement, arthritis
A
D/D
Paget disease of bone
(increase osteoblastic and osteoclastic activity)
12
Q
CP
Bounding pulses, diastolic heart murmur, head bobbing
A
D/D
Aortic regurgitation
13
Q
CP
Butterfly facial rash and Raynaud phenomenon in a young female
A
D/D
SLE
systemic lupus erythematosus
14
Q
CP
Cafe-au-lait-spots, Laish nodules (iris hamartoma)
A
D/D
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
15
Q
CP
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
D/D
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
CP
Calf-pseudohypertrophy
A
D/D
Muscular dystrophy (most commonly Duchenne):
X-linked recessive deletion of dystrophin gene.
17
Q
A
18
Q
CP
“Cherry-red spots” on macula
A
D/D
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion.
19
Q
CP
Chest pain on exertion
A
D/D
Angina:
- stable: with moderate exertion
- unstable: with minimal exertion
20
Q
CP
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
D/D
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
21
Q
CP
Child uses arms to stand up from squat
A
D/D
Growers sign
(Duchenne muscular dystrophy)
22
Q
CP
Child w/fever later develops red rash on face the spreads to body
A
D/D
‘Slapped checks’
(eryhtema infectiosum/fifth disease’ parvovirus B19)
23
Q
CP
Chorea, dementia, caudate degeneration
A
D/D
Huntington disease
(autosomal dominant CAG repeat expansion)
24
Q
CP
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
D/D
McArdle disease (muscle glycogen phosphorylase deficiency)
25
CP
Cold intolerance
D/D
Hypothyroidism
26
CP
Conjugate lateral glaze palsy, horizontal diplopia
D/D
**Internuclear ophthalmoplegia **
damage to MLF
* bilateral (multiple sclerosis)
* unilateral (storke)
27
CP
Continous 'machine-like' heart murmur
D/D
PDA
* Close w/: indomethacin
* Open or maintain w/: misoprostol
28
CP
Cutaneous/dermal edema due to connective tissue deposition
D/D
Myxedema (caused by hypothyroidism, Graves disease (pretibial))
29
CP
Dark/purple skin/mouth nodules in a patient with AIDS
D/D
Kaposi sarcoma, associated with HHV-8
30
CP
Deep, labored breathing/hyperventilation
D/D
Kussmaul respirations (diabetic ketoacidosis)
31
CP
Dermatitis, dementai, diarrhea
D/D
Pellagra (niacin (vit B3) def)
32
CP
Dilated cardiomyopathy, edema, alcoholism or malnutrition
D/D
Wet beriberi (thiamine (vit B1) def)
33
CP
Dog or cat bite resulting in infection
D/D
*Pasteurella multocida* (celulitis at inoculation site)
34
CP
Dry eyes, dry mouth, arthritis
D/D
Sjorgrem syndrome
(autoimmune destruction of exocrine glands)
35
CP
Dysphagia (esophageal webs) glossitis, ironr def anemai
D/D
Plummer-Vinson syndrome
(may progress to esophageal squamous cell carcinoma)
36
CP
Elastic skin, hypermotility of joints
D/D
Ehlers-Danlos syndrome (type III collagen defect)
37
CP
Enlarged, hard left supraclavicular node
D/D
Virchow node (abdominal metastasis)
38
CP
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
D/D
Mycosis fungoides (cutaneous T-cell lymphoma)
or
Sezary syndrome (mycosis fungoides + malignant T cells in blood).
39
CP
Facial muscle spasm upon tapping
D/D
Chvostek sign (hypocalcemia)
40
CP
Fat, female, forty, fertile
D/D
Cholelithiasis (gallstones)
41
CP
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
D/D
Jarish-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
42
CP
Fever, cough, conjunctivitis, coryza, diffuse rash
D/D
Measles
43
CP
Fever, night sweats, weight loss
D/D
B symptoms (staging) of lymphoma
44
CP
Fibrous plaques in soft tissues of penis
(istugfur Allah!)
D/D
Peyronie disease (CT disorder)
45
CP
Gout, intellectual disability, self mutilating behavior in a boy!
D/D
Lesch-Nyhan syndrome
(HGPRT def, X-linked recessive)
46
CP
Gree-yellow rings around peripheral cornea
D/D
Kayser-Fleischer rings (copper accumulation for Wilson disease)
47
CP
Hamartomatous GI polyps, hyperpigmentatoin of mouth/feet/hands
D/D
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increase cancer risk, mainly GI)
48
CP
Hepatosplenomegaly, osteoporosis, neurologic symptoms
D/D
Gaucher disease (glucocerebrosidase deficiency)
49
CP
Hereditary nephritis, sensorineural hearing loss, cataracts
D/D
Alport syndrome (mutation in collagen IV)
50
CP
Hyperphagia, hypersexuality, hyperorality, hyperdocility
D/D
Kluver-Bucy syndrome (bilateral amygdala lesion)
51
CP
Hyperreflexia, hypertonia, Babinski sign _present_
D/D
UMN damage
52
CP
Hyporeflexia, hypotonia, atrophy, fasciculations
D/D
LMN damage
53
CP
Hypoxemia, polycythemia, hypercapnia
D/D
'blue bloater'
chronic broncitis: hyperplasia of mucous cells
54
CP
Indurated, ulcerated genital lesoin
D/D
* **non painful**: chancre (primary: syphilis, *Treponema pallidum *)
* **Painful, with exudate:** chancroid (*Haemophilus ducreyi)*
55
CP
Infant w/cleft lip/palate, microcephaly, or holoprosencephaly, polydactyly, cutis aplasia
D/D
Patau syndrome (trisomy 13)
56
CP
Infant with failure to thrive, hepatosplenomegaly and neurodegeneration
D/D
Neimann-Pick disease
(genetic sphinogmyelianse deficiency)
57
CP
Infant with hypoglycemia, failure to thrive, and hepatomegaly
D/D
Cori disease (debranching enzyme deficiency)
or
von Gierke disease (G-6-P def, more severe)
58
CP
Infant w/microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
D/D
Edwards syndrome (trisomy 18)
59
CP
Jaudice, palpable distended non-tender gallbladder
D/D
Courvoisier sign (distal obstruction of biliary tree)
60
CP
Large rash w/bull's eye appearance
D/D
Erythema chronicum migrans from *Ixodes *tick bite (Lyme disease)
61
CP
Lucid interval after traumatic brain injury
D/D
Epidural hematoma (middle meningeal artery rupture)
62
CP
Male child, recurrent infections, no mature B-cells
D/D
Bruton disease (X-linked agammaglobulinemia)
63
CP
Mucosal bleeding and prolonged bleeding time
D/D
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
64
CP
Muffled heart sounds, distended neck veins, hypotension
D/D
Beck triad of cardiac temponade
65
66
CP
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
D/D
Gardner syndrome (subtype of FAP)
67
CP
Myopathy (inflantile hypertrophic cardiomyopathy), excercise intolerance
D/D
Pompe-disease (lysosomal alpha-1,4 glycosidase deficiency)
68
CP
Neonate with arm paralysis following difficult birth
D/D
Erb-Duchene palsy (superior trunk (C5-6) brachial plexus injury 'waiter's tip)
69
CP
No lactation postpartum, absent menstruation, cold intolerance
D/D
Sheehan syndrome (pituitary infarction)
70
CP
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
D/D
Multiple sclerosis
71
CP
Oscillating slow/fast breathing
D/D
Cheyne-Stroke respirations (central apnea in CHF or increase in intracranial pressure)
72
CP
Painful blue fingers/toes, hemolytic anemia
D/D
Cold agglutinin disease (autoimmune hemolytic anemia caused by *Mycoplasma pneumoniae, *infectious mononucleosis)
73
CP
Painful, pale, cold finregs/toes
D/D
Raynaud phenomenon (vasospasm in extremities)
74
CP
Painful, raised red lesions on pad of fingers/toes
D/D
Osler nodes (infective endocarditis, septic emboli/microabscesses)
75
CP
Painless erythematous lesions on palm and soles
D/D
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
76
CP
Painless jaundice
D/D
Cancer of the pancreatic head obstructing bile duct
77
CP
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
D/D
HSP (Henoch-Schonelin purpura) IgA vasculitis affecting skin and kidneys
78
CP
Pancreatic, pituitary, parathyroid tumors
D/D
MEN I (autosomal dominant)
79
CP
Periorbital and/or perihperal edema, proteinuria, hypoalbuminemia, hypercholesterolemia
D/D
Nephrotic syndrome
80
CP
Pink complexion, dyspnea, hyperventilation
D/D
'Pink puffer' emphysema
* centriacinar (smoking)
* panacinar (alpha-1 antitrypsin def)
81
CP
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophophatemic rickets
D/D
fancoi syndrome
(proximal tubular reabsorption defect)
82
CP
Pruritic, purple, poylgonal planar papules and plaques (6 P's)
D/D
Lichen planus
83
CP
Ptosis, miosis, anhidrosis
D/D
Horner syndrome (sympathetic chain lesions)
84
CP
Pupil accommodates but doesn't react
D/D
Argyll Robinson pupil (neurosyphilis)
85
CP
Rapidly progressive leg weakness, that ascends following GI/upper respiratory infection
D/D
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
86
CP
Rash on palms and soles
(3 things)
D/D
Coxsackie A
secondary syphilis
Rocky Mountain spotted fever
87
CP
Recurrent colds, unusual eczema, high serum Ig
D/D
Hyper-IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)
88
CP
Red 'currant jelly' sputum in alcoholic or diabetic patients
D/D
## Footnote
*Klebsiella pneumoniae*
89
CP
Red 'currant' jelly stools
D/D
Acute mesenteric ischemia (adults), intussuception (infants)
90
CP
Red, itchy, swollen rash of nipple/areola
D/D
Paget disease of the breast
(sign of underlying neoplasm)
91
CP
Red urine in the morning, fragile RBCs
D/D
Paroxysmal nocturnal hemoglobinuria
92
CP
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
D/D
von Hippel-Lindau disease
(dominant tumor suppressor gene mutation)
93
CP
Resting tumor, rigidity, akinesia, postural instability
D/D
Parkinson disease
(nigrostriatal dopamine depletion)
94
CP
Retinal hemorrhages with pale centers
D/D
Roth spots (bacterial endocarditis)
95
CP
Severe jaundice in neonate
D/D
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubemia)
96
CP
Severe RLQ pain w/palpation of LLQ
D/D
Rovsing sign (acute appendicitis)
97
CP
Severe RLQ pain with rebound tenderness
D/D
McBurney sign (acute appendicitis)
98
CP
Short stature, increase incidence of tumors/leukemia, aplastic anemia
D/D
fanconi anemia (genetic loss of DNA crosslink repair, often progress to AML)
99
CP
Single palmar crease
D/D
Down syndrome
100
CP
Situs inversus, chronic sinusitis, bronchiectasis, infertility
D/D
Kartagener syndrome
(dynein arm defect affecting cilia)
101
CP
Skin hyperpigmentation, hypotension, fatigue
D/D
Addison disease
(primary adrenocortical insufficiency causes, increase ACTH, and increase in alpha-MSH production)
102
CP
Slow progressive muscle weakness in boys
D/D
Becker muscular dystrophy
(X-linked missense mutation in dystrophin, less severe than Duchenne)
103
CP
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
D/D
Koplick spots
(measles, rubeola virus)
104
CP
Smooth, flat, moist, painless white lesions on genitals
D/D
Condylomata lata
(secondary to syhpilis)
105
CP
Splinter hemorrhages in fingernails
D/D
Bacterial endocarditis
106
CP
Strawberry tongue
D/D
Scarlet fever, kawaskai disease, toxic shock syndrome
107
CP
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hydroma at birth, short stature, webbed neck, lymphedema
D/D
Turner syndrome (45, XO)
108
CP
Sudden swollen/painful big toe joint, tophi
D/D
Gout/Podagra (hyperuricemia)
109
CP
Swollen gum, mucosal bleeding, poor wound healing, petechiae
D/D
Scurvy
(_vitamin C deficiency_: can't hydroxylate proline/lysine for collagen synthesis)
110
CP
Swollen, hard, painful fingers joints
D/D
Osteoarthritis (osteophytes on PIP (bouchard nodes), DIP (Heberden nodes))
111
CP
Systolic ejection murmur (crescendo-decresendo)
D/D
Aortic valve stenosis
112
CP
Thyroid and parathyroid tumors, pheochromocytoma
D/D
MEN 2A (autosomal dominant ret mutation)
113
CP
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
D/D
MEN 2B (autosomal dominant ret mutation)
114
CP
Toe extension/fanning upon plantar scrape
D/D
Babinski sign (UMN lesion)
115
CP
Unilateral facial drooping involving forehead
D/D
facial nerve
(LMN CN VII palsy)
116
CP
Urthritis, conjunctivitis, arthritis in a male
D/D
Reactive arthritis associated with HLA-B27
117
CP
Vascular birthmark (port-wine stain)
D/D
Hemangioma (benign, but associated with Sturge-Weber syndrome)
118
CP
Vomiting blood following gastroesophageal lacerations
D/D
Mallory-Weiss syndrome
(alcoholic and bulimic patients)
119
CP
weight loss, diarrhea, arthritis, fever, adenopathy
D/D
Whipple disease (*Tropheryma whipplei)*
120
CP
'Worst headache of my life'
D/d
Subarachnoid hemorrhage
