FA Rapid Review: Classic Presentations Flashcards
(115 cards)
1
Q
Abdominal pain
Ascites
Hepatomegaly
A
Budd-Chiari Syndrome (post-hepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial Hypercholesterolemia (2/2 decreased LDL receptor signaling)
3
Q
Adrenal hemorrhage
HoTN
DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Anterior drawer sign
A
ACL injury
5
Q
Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints
A
Marfan syndrome (2/2 Fibrillin defect)
6
Q
Athlete with polycythemia
A
He’s injecting EPO
7
Q
Back pain
Fever
Night Sweats
Wt loss
A
Pott disease (vertebral TB) - Wt loss is key
8
Q
B/L hilar LAD
Uveitis
A
Sarcoidosis (noncaseating granulomas)
9
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
10
Q
Bluish line on gingiva
A
Burton line 2/2 lead poisoning
11
Q
Bone pain
Bone enlargement
Arthritis
A
Paget disease of bone (increased osteoblastic and osteoclastic activity)
12
Q
Bounding pulses
Diastolic murmur
Head bobbing
A
AVR
13
Q
“butterfly” facial rash
Raynaud
young female
A
SLE
14
Q
Cafe-au-lait spots Lisch nodules (iris hamartomas)
A
NF1 (also has pheo and optic gliomas)
15
Q
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine problems
A
McCune Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
DMD (x-linked recessive deletion of dystrophin)
17
Q
Cherry-red spots on macula
A
Tay Sachs (ganglioside accumulation)
or
Niemann-Pick (sphingomyelin accumulation)
2/2 central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina
19
Q
Chest pain
Pericardial effusion/friction rub
Persistent fever following MI (2weeks to months)
A
Dressler syndrome
- autoimmune induced fibrinous pericarditis
20
Q
Child uses arms to stand up from squat
A
Gowers sign from DMD
21
Q
Child w/fever later develops red rash on face –> body
A
Slapped cheeks (erythema infectiosum/fifth disease) 2/2 parvovirus B19
22
Q
Chorea
Dementia
Caudate degeneration
A
HD (AD CAG repeats)
23
Q
Chronic exercise intolerance w/:
- Myalgia
- Fatigue
- Painful cramps
- Myoglobulinemia
A
McArdle disease
- muscle glycogen phosphoryalse deficiency
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy
| Horizontal diplopia
INO 2/2 MLF damage
26
Continuous "Machine-like" murmur
PDA
- close with indomethacin
- keep open with PGE (misoprostol)
27
Cutaneous/dermal edema due to connective tissue deposition
Myxedema from hypothyroidism (Graves disease) esp at pretibial region
28
Dark purple skin/mouth modules in pt with AIDS
Kaposi sarcoma a/w HHV-8
29
Deep, labored breathing/hyperventilation
Kussmaul respirations 2/2 DKA
30
Dermatitis
Dementia
Diarrhea
Niacin B3 def (Pellagra)
31
Dilated CM
Edema
Alcoholism
Malnutrition
Wet beriberi (B1 def)
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
Elastic skin
| Hypermobile joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Dysphagia (esophageal webs)
Glossitis
Fe def anemia
Plummer-vinson syndrome (can progress to esophageal squamous cell carcinoma)
36
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
37
Erythroderma
LAD
Hepatosplenomegaly
Atypical T cells
```
Mycosis fungoides (cutaneous T-cell lymphoma)
or
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
```
38
Facial muscle spasm upon tapping
Hypocalcemia
| Chvostek sign
39
Fat
Female
Forty
Fertile
Cholelithiasis (gallstones)
| - can lead to pancreatitis
40
f/c, h/a, myalgia following antibiotic Tx for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes resulting in toxin release)
41
```
Fever
cough
Conjunctivitis
Coryza
Diffuse rash
```
Measles
42
Fever
Night sweats
Wt Loss
B symptoms (staging) of lymphoma
43
Fibrinous plaques in soft tissue of penis
Peyronie disease (connective tissue d/o)
44
Gout
Intellectual disability
Self-mutilating behavior in a boy
Lesch-Nyhan syndrome
HCPRT deficiency
X-linked recessive
45
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings of Wilson
46
Hamartomatous GI polyps
| Hyperpigmentation of mouth, feet, hands
Peutz-Jeghers syndrome
- inherited
- benign polyposis that can cause obstruction
- incrased cancer risk, mainly GI
47
Hepatosplenomegaly
Osteoporosis
Neurologic sxs
```
Gaucher disease (HSM, bone, brain)
- glucocerebrosidase def
```
48
Hereditary nephritis
Sensorineural hearing loss
Cataracts
Alport syndrome
| - mut collagen IV
49
Hyperphagia
Hypersexual
Hyperoral
Hyperdocile
Kluver Bucy
| - b/l amygdala lesion
50
Hyperreflexia
Hypertonia
Babinksi
UMN damage
51
Hyporeflexia
Hypotonia
atrophy
fasciculations
LMN damage
52
Hypoxemia
Polycythemia
Hypercapnia
Chronic bronchitis: hyperplasia of mucus cells
53
Indurated
| Ulcerated genital lesion
Nonpainful = chancre of syphilis
| Painful w/exudate= chancroid of haemophilus ducreyi
54
```
Infant:
cleft
microcephaly or holoprosencephaly
polydatyly
cutis aplasia
```
Patau syndrome (trisomy 13)
55
Infant:
FTT
HSM
Neurodegeneration
Niemann-Pick disease
| - genetic sphingomyelinase deficiency
56
Infant:
FTT
HSM
Hypoglycemia
```
Cori disease
- debranching enzyme def
OR
Von Gierke disease
- glucose-6-phosphatase def (more severe)
```
57
```
Infant:
microcephaly
rocker-bottom feet
clenched hands
structural heart defect
```
Edwards syndrome (trisomy 18)
58
Jaundice
| Palpable distended non-tender gallbladder
Courvoisier sign
| - distal obstruction of biliary tree
59
Large rash w/bull's eye apperance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease Borrelia)
60
Lucid interval after traumatic brain injury
Epidural hematoma
61
Male child w/recurrent infections and no mature B cells
Bruton disease
| - X-linked agammaglobulinemia
62
Mucosal bleeding
| Prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
Multiple colon polyps
Osteomas/Soft tissue tumors
Impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic CM)
| Exercise intolerance
Pompe disease
| - lysosomal alpha-1,4-glucosidase deficiency
65
Neonate:
| Arm paralysis after birth
Erb-Duchenne palsy - Waiter's tip
| C5-C6 brachial plexus injury
66
No lactation postpartum
Absent Menstruation
Cold intolerance
Sheehan syndrome (pituiary infarction)
67
Nystagmus
Intention Tremor
Scanning speech
bilateral INO
MS
68
Oscillating slow/fast breathing
Cheyne-Strokes respiration
| 2/2 central apnea in CHF OR increased ICP
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia)
| - 2/2 mycoplasma pneumoniae, infectious mono
70
Painful
Pale
Cold fingers/toes
Raynaud phenomenon (vasospasm of extremities)
71
Painful, raised red lesion on pad of fingers/toes
```
Osler nodes (infective endocarditis)
- IC deposits
```
72
Painless erythematous lesions on feet and hands
```
Janeway lesions (infective endocarditis)
- septic emboli and microabscesses
```
73
Painless jaundice
Cancer of pancreatic head obstructing the bile duct
74
Palpable purpura on butt/legs
Joint pain
Abd pain
Hematuria
Henoch-Schonlein purpura
| - IgA vasculitis
75
Pancreas
Parathyroid
Pituitary tumors
MEN-1
- autosomal dominant
- MEN have 1 P-nis
76
Periorbital/peripheral edema
Proteinuria
Hypoalbuminemia
Hypercholesterolemia
Nephrotic syndrome
77
Pink Complexion
Dyspnea
Hyperventilation
Emphysema
- if central acinar = smoking
- if pan acinar = antitrypsin def
78
```
Polyuria
RTA type II
Growth Failure
Electrolyte imbalance
Hyphosphatemic rickets
```
Fanconi syndrome
| - proximal tubule reabsorption defect
79
Pruritic, purple, polygonal planar papules and plaques (6P's)
Lichen planus
80
Ptosis
Miosis
Anhydriasis
Horner syndrome
81
Pupil accomidates but doesn't react
Argyll Robertson pupil of syphilis
82
Rapidly progressive leg weakness that ascends following GI/respiratory infection
GBS (acute autoimmune inflammatory demyelinating polyneuroapthy)
83
Rash on palms and soles
Coxsackie A
Secondary Syphilis
Rocky Mountain Spotted fever
84
Recurrent colds
Unusual eczema
High Serum IgE
Hyper-IgE syndrome = Job Syndrome
| - neutrophil chemotaxis abnormality
85
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
86
Red, itchy, swollen rash of nipple/areola
Paget disease of breast
| - sign of underlying neoplasm
87
Red urine in morning
| Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
88
Renal cell carcinoma (b/l)
Hemangioblastomas
Angiomatosis
Pheochomocytoma
VHL
| - TSG mutation
89
```
Resting tremor
Rigid
Akinesia
Shuffling gait
Postural instability
```
PD (nigrostriatal depletion of dopamine secreting neurons)
90
Retinal hemorrhages w/pale centers
Roth spots
| - bacterial endocarditis
91
Severe jaundice in neonate
Cirgler-Najjar syndrome
| - congenital unconjugated hyperbilirubinemia
92
Severe RLQ pain w/palpation of LLQ
Rovsing's sign for acute appendicitis
93
Severe RLQ pain w/rebound tenderness
McBurney sign for acute appendicitis
94
short stature
increased incidence of tumors/leukemia
aplastic anemia
Fanconi anemia
- genetic loss of DNA crosslink repair
- often progress to AML
95
Single palmar crease
Down syndrome
96
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility
Kartagener syndrome
| - dynein arm defect affecting cilia
97
Skin hyperpigmentation
HoTN
Fatigue
Addison disease
| - primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production
98
Slow, progressive muscle weakness in boys
Becker muscular dystrophy
| - X-linked missense mutation on dystrophin
99
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots in measles and rubeola virus
100
smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
101
splinter hemorrhages on nailbeds
Bacterial endocarditis
102
Strawberry tongue
Kawasaki
Scarlet fever
Toxic shock syndrome
103
```
Streak ovaries
congenital heart defects
horseshoe kidney
cystic hygroma at birth
short stature
webbed neck
lymphedma
```
Turner syndrome (45,XO)
104
sudden/swollen big toe joint, tophi
Gout or podagra (hyperuricemia)
105
Swollen gums
mucosal bleeding
poor wound healing
petechiae
Scurvy (vit C def)
| - can't hydoxylate proline/lysine for collagen synthesis
106
Swollen, hard, painful finger joints
OA
- osteophytes on PIP (bouchard nodes)
- osteophytes on DIP (Heberden nodes)
107
systolic ejection murmur (crescendo-decrescnedo)
AVS
108
thyroid tumors
parathyroid tumors
pheochromocytoma
MEN2A
| - AD ret mutation
109
thyroid tumors
pheochromocytoma
ganglioneuromatosis
MEN2B
| - AD ret mutation
110
Urethritis
Conjunctivitis
Arthritis in a male
Reactive arthritis a/w HLA-B27
111
Vascular birthmark (port-wine stain)
Hemangioma
| - benign but a/w Sturge Weber syndrome
112
```
Wt loss
diarrhea
arthritis
fever
adenopathy
```
Whipple disease
| - Tropheryma whipplei
113
what causes brown pigment stones
biliary tract infection
114
what causes black pigment stones
intravascular hemolysis
115
what are RFs for biliary sludge (5)
1. gallbladder hypomotility
2. pregnancy
3. rapid weight loss
4. prolonged use of TPN
5. high spinal cord injuries
