Rapid Review: Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia
- LDLR mutation = decr LDL receptor signaling
- LDL R binds ApoB on LDL
- Rx (Heterozygotes)
- Statins
- BAS: cholestyramine, colesevelam
- Rx (Homozygotes)
- LDL apheresis
- Liver transplant
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhous-Friderichsen syndrome (mengiococcemia)
Gram neg diplococci with capsule and pilus
How is it different from N. gonorrhea?
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome
- Fibrillin defect
5
Q
Athlete with polycythemia
A
EPO injection
6
Q
Back pack, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis
- Noncaseating granulomas
8
Q
Blue sclera
A
Osteogenesis imperfecta
- Collagen defect, exposes veins
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
- Incr osteoblast AND osteoclast activity
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
- Acute: e.g. endocarditis
- Florid CHF 2/2 LV overload
- Chronic:
- LV eccentric adaptation and hypertrophy
- Inital compensation and then later decompensation
- Physical exam
- Waterhammer pulse
- Rapid upstroke and collapse of carotid artery pulse (Corrigan’s pulse)
- Low diastolic and incr pulse pressure
- Head nodding in time with heartbeat
Other diastolic heart murmurs: PR, MS (opening snap with mid-diastolic rumbling), TS
12
Q
“Butterfly” facial rash, Raynaud’s phenomenon in young female
A
Systemic lupus erythematosus
13
Q
Cafe-au-lait spots, pigmented hamartomas on iris,
plus:
a) pheochromocytoma, optic glioma
b) bilateral acoustic neuromas
A
a) NF1
b) NF2
Pigmented hamartomas on iris = Lisch nodules
14
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
A
McCune-Albright syndrome
- Post-zygotic mutation in GNAS1 (guanine
- Mosiac G-protein signaling mutation, prevents downregulation of cAMP
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
- Niemann-Pick
- Sphingomyelinase deficiency
- Sphingomyelin accumulation
- Tay-Sachs
- Hexosaminidase A
- Ganglioside (GM2) accumulation
- Central retinal artery occlusion
17
Q
Chest pain on exertion
A
Angina
- Stable: moderate exertion
- Unstable: minimal exertion
18
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
19
Q
Child uses arms to stand up from squat
A
Gowers’ sign
- Duchenne muscular dystrophy
20
Q
Child with fever develops red rash on face that spreads to body
A
“Slapped cheeks”
- Erythema infectiosum/fifth disease
- Parvovirus B19
21
Q
Chorea, dementia, caudate degeneration
A
Huntington’s disease
- AD CAG repeat expansion
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful, cramps myoglobinuria
A
McArdle’s disease
- Muscle glycogen phosphorylase deficiency
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gazepalsy, horizontal diplopia
A
Internuclear ophthalmoplegia
- Damage to MLF
- Types
- Bilateral: multiple sclerosis
- Unilateral: stroke
25
Continuous "marchinery" heart murmur
PDA
* Close with indomethacin
* Open with misoprostol
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema
* Etiologies
* Hypothyroidism
* Graves' disease (hyperthyroid): pretibial
* infiltrative thyroid dermopathy ![]()
27
Dark purple skin/mouth nodules
Kaposi's sarcoma
* AIDS patients
* HHV-8 associated
28
Deep, labored breathing/hyperventilation
Kussmaul breathing
* Diabetic ketoacidosis
29
Dermatitis, dementia, diarrhea
Pellagra
* Niacin (Vit B3) deficiency
30
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi
* Thiamine (B1) deficiency
31
Dog or car bite resulting in infection
* Pasteurella multicida*
* Cellulitis at inoculation site
32
Dry eyes, dry mouth, arthritis
Sjogren's syndrome
* Autoimmune destruction of exocrine glands
33
Dysphagia (esopheal webs), glossitis, iren deficiency anemia
Plummer-Vinson syndrome
* May progress to esophageal squamous cell carcinoma
34
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome
* Type III collagen defect
35
Enlarged, hard left supraclavicular node
Virchow's node (adominal metastasis)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
1. Sézary sydrome: cutaneous T cell lymphoma (a type of nHL)
2. Mycosis fungoides
37
Facial muscle spasm upon tapping
Chvostek's sign
* Hypocalcemia
38
Fat, female, forty, and fertile
Acute cholelithiasis
* Bile duct blockage
39
Fever, chills, headache, myalgia following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction
* Rapid lysis of spirochetes results in toxin release
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
* Morbillibivirus, a type of Paramyxovirus
41
Fever, night sweats, weight loss
B symptoms
* Lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's disease
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43
Gout, mental retardation, self-mutilation behavior in a boy
Lesch-Nyhan syndrome
* HGPRT deficiency
* X-linked recessive
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings
* Cu accumulation from Wilson's disease
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
* Genetic benign polyposis can cause bowel obstruction
* Incr cancer risk
46
HSM, osteoporosis, neurologic symptoms
Guacher's disease
* Glucocerebrosidase deficiency
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome
* Mutation in alpha chain of collagen IV
48
Hypercoagulabilty (leading to migrating DVTs and vasculitis)
Trousseau's syndrome
* Migratory thrombophlebitis associated with malignancies--successive crops of tender nodules in affected veins
* Adenomacarcinoma of pancreas or lung
49
Hyperphagia, hypersexualit, hyperorality, hyperdocility
Kluver-Bucy syndrome
* Bilateral amygdala lesion
50
Hyperreflexia, hypertonia, positive Babinksi sign
UMN damage
51
Hypertension, hypokalemia, metabolic alkaloosis
Conn's syndrome
52
Hyporeflexia, hypotonia, atrophy
LMN damage
53
Hypoxemia, polycythemia, hypercapnia
"Blue bloater"
* Chronic bronchitis: hyperplasia of mucus membranes
54
Indurated, ulcerated genital lesion
1. Non-painful
2. Painful, with exudate
1. Chancre
1. Primary syphillis
2. *Treponema pallidum*
2. Chancroid
1. *Haemophilus ducreyi*
55
Infant with failure to thrive, HSM, neurodegeneration
Niemann-Pick disease
* Genetic sphingomyelinase deficiency (AR)
* Spingomyelin accumulation
* Foamy macrophages
* Death by 2-3 yrs
56
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart disease
Edwards' syndrome (Trisomy 18)
57
Keratin pearls on skin biopsy
Squamous cell carcinoma
58
Large rash with bull's eye appearance
Erythema chronicum migrans
* Iodes 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
* BTK defect
* Tyrosine kinase gene: blocks pro-B cells from forming pre-B cells
* B-cell disease
* Normal pro-B, decr maturation, decr number of B cells, ALL Ig's decreased
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's thombasthenia
* Defect in platelet aggregation due to lack of GpIIb/IIIa
* Bleeding time is a measure of platelet function! Early bleeding.
62
Multiple colon polyps, osteomas/soft tissue tumors, exercise intolerance
Gardner's syndrome (FAP subtype)
63
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe's disease (GSD)
* Lysosomal alpha-1,4 glucosidase deficiency (acid maltase)
* Glycogen accumulation
* Cardiomegaly and systemic findings leading to early death
* "Pompe's trashes the Pump" (heart, liver, muscle)
64
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
1. Wegener's
1. c-ANCA
2. Goodpasture's
1. Anti-GBM
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, scanning speach, bilateral intranuclear opthalmoplegia
Multiple sclerosis
* Bilateral INO (esp young pt) = MLF lesion
* Disorder of conjugate gaze
* MLF connects:
* PPRF-abducens nucleus
* Contralateraloculomotor nucleus
* Ex) RIGHT INO = lesion to RIGHT MLF = inability to adduct RIGHT eye on L gaze
68
Oscillating slow/fast breathing
Cheyne-Stokes respirations
* Central apnea in CHF, OR
* Increased ICP
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin diease
* Autoimmune hemolytic anemia
* anti-RBC antibody, usually IGM
* Binds RBCs, activates complement, MAC destroys cells
* Primary
* Idiopathic
* Secondary
* Adults: CLL, lymphoma, infection
* Kids: *Mycoplasma pneumonia, i*nfectious mononucleosis
70
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
71
Painless, erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
72
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
73
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Henoch-Schönlein purpura
* IgA vasculitis affecting skin and kidneys
74
Pancreatic, pituitary, parathyroid tumors
MEN 1
* Autosomal dominant
75
Pink complexion, dyspnea, hyperventilation
"Pink puffer"
Emphysema
1. Centroacinar: smoking
2. Panacinar: alpha1-antitrypsin deficiency
76
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome
* Proximal tubular reabsorption defect
77
Positive anterior "drawer sign"
ACL injury
78
Ptosis, miosis, anhidrosis
Horner's syndrome
* Sympathetic chain lesion
79
Pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphillis)
80
Rapidly progressing leg weakness that ascends following GI/URI
Guillain-Barré syndrome
* Autoimmune actue inflammatory demyelinating polyneuropathy
81
Rash on palms and soles
1. Coxsackie A
1. Picornaviridae (PERCH)
2. Hand-foot-mouth disease
2. Secondary syphillis
3. RMSF
1. *Rickettsia rickettsi*
82
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's syndrome)
* Th cells fail to produce IFN-gamma = neutrophils unable to respond to chemotactic stimuli
* FATED:
* coarse **F**acies
* cold/non-inflammed staph Abcesses
* retained primary Teeth
* incr IgE
* Derm probs (eczema)
83
Red "currant jelly" sputum in alcoholic or diabetic patients
*Klebsiella pneumoniae*
* GNR
* Fast lactose fermenter (like E. coli, Enterobacter)
* Pink colonies on MacConkey's agar
* Abundant polysaccaride capsule
* Mucoid colonies
* Lobar pneumonia
84
Red, itchy, swollen rash of nipple/areola
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Paget's disease of the breast (represents underlying neoplasm)
85
Red urin in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
86
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
* Dominant tumor suppressor gene mutation
87
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease
* Nigrostriatal DA depletion
88
Retinal hemorrhages with pale centers
Roth's spots
* Bacterial endocarditis
89
Severe jaundice in neonate
Crigler-Najjar syndrome
* Congenital unconjugated hyperbilirubinemia
90
Severe RLQ pain with rebound tenderness
McBurney's point
* Appendicitis
91
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia
* Genetic loss of DNA crosslink repair; often progresses to AML
92
Single palm crease
Simian crease
* Down's syndrome
93
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome
* Dynein arm defect affecting cilia
94
Skin hyperpigmentation
Addison's disease
* Primary adrenocortical insufficiency causes incr ACTH and alpha-MSH production
95
Slow progressive muscle weakness in boys
Becker's muscular dystrophy
* X-linked misssense mutation in dystrophin; less severe than Duchenne's
96
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots
* Measles (Rubeola virus)
* Paramyxovirus
* -ssRNA
97
Smooth, flat, moist white lesions on genitals
Condylomata lata
* Secondary syphillis
98
Splinter hemorrhages in fingernails
Bacterial endocarditis
99
Strawberry tongue
1. Scarlet fever
1. GBS
2. Kawasaki disease
3. Toxic shock syndrome
100
Streak ovaries, congenital heart disaese, horseshoe kidney, cystic hygroma at birth
Turner syndrome
* 45,XO
* Short stature, webbed neck, lymphedeoma
101
Sudden swollen/painful big joint, tophi
Gout/podagra
* Hyperuricemia
102
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy
* Vitamin C deficiency
* Can't hydroxylate proine/lysine for collagen synthesis
103
Swollen, hard, painful finger joints
Osteoarthritis
* Osteophytes on PIP (Bouchard's nodes) and DIP (Heberden's nodes)
104
SEM, crescendo-decrescendo
Aortic valve stenosis
105
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
* AD *ret* mutation (proto-oncogene)
106
Thyroid tumors, pheochromocytoma, ganglioneuromatosis/mucosal neuromas
MEN 2B
* AD ret mutation (proto-oncogene)
107
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
108
Unilateral facial drooping involving forehead
Bell's palsy
* LMN CN VII palsy
109
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
110
Vascular birthmark (port-wine stain)
Hemangioma
* Benign, but associated with Sturge-Weber syndrome
* port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma.
* Characterized by abnormal blood vessels on the brain surface
111
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome
* Alcoholic and bulimic patients
112
"Waxy" casts with very low urine flow
Chronic end-stage renal disease
113
WBC casts in urine
Acute pyelonephritis
114
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease
* *Tropheryma whippelii*
* Primarily malabsorption, but may affect any part of the body including the heart, lungs, brain, joints, skin, and the eyes
* Malabsorption (insufficient absorption of nutrients from the diet) leads to wasting and the enlargement of lymph nodes in the abdomen.
* Poor absorption of fat means that many develop steatorrhea (fatty, offensive stool). Depletion of albumin, a blood protein, causes peripheral oedema.
* Neuro: dementia, memory loss, confusion, and decreased level of consciousness
115
"Worst headache of life"
Subarachnoid hemorrhage
