Classic Presentations Flashcards
(118 cards)
1
Q
Abdominal pain
Ascities
Hepatomegaly
A
Budd-Chiari Syndrome
(thrombosis of portal vein)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia
(decreased LDL receptor signaling)
3
Q
Adrenal hemorrhage
Hypotension
DIC
A
Waterhouse-Friderichsen syndrome
(meningococcemia from neisseria menengiditis)
4
Q
Arachnodactyly
Lens dislocation
Aortic dissection
Hyperreflexible 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 tuberculosis)
7
Q
Bilateral hilar adeopathy
Uveitis
A
Sarcoidosis
(noncaseating granuloma)
8
Q
Blue Sclera
A
Osteogenesis Imperfecta
(Collagen type 1 defect)
9
Q
Bluish line on gingiva
A
Burton’s disease
(Lead poisoning)
10
Q
Bone pain
Bone enlargement
Arthritis
A
Paget’s disease of bone
(increase osteoblastic/osteoclastic activity)
(isolated elevated Alkaline phosphatase)
11
Q
Bounding pulses
Diasolic heart murmur (right sternal border)
Head bobbing
A
Aortic regurgitation
12
Q
“Butterfly” facial rash
Raynaud’s phenomenon in young female
A
Systemic lupus erythematosus (SLE)
13
Q
Cafe-au-lait spots
Polycystic fibrous dysplasia
Precocious puberty
A
McCune-Albright syndrome
(mosaic G-protein signaling mutaiton)
14
Q
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
Pheochromocytoma
Optic gliomas
A
Neurofibromatosis type I
15
Q
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
Bilateral acoustic neuromas
A
Neurofibromatosis type 2
16
Q
Gowers’ sign
Calf pseudohypertrophy
A
Muscular dystrophy
(most commonly Duchenne’s)
X linked-recessive deletion of dystrophin gene
17
Q
Cherry red spot on macula
A
Tay-Sachs (gnglioside accumulation)
or
Niemann-Pick (sphingomyelin accumulation)
Symptom due to central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina
(stable: moderate exertion)
(unstable: at rest)
19
Q
Chest pain
Pericardial effusion/friction rub
Persistent fever following MI
A
Dressler’s syndrome
(auto-immune post-MI fibrinous pericardidits)
1-12 weeks after acute episode
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
(autosomal dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
myoglobinuria
A
McArdle’s diease
(muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy
(eye cannot adduct when looking contrallaterally)
Horizontal diplopia
A
Internuclear ophthalmoplegia
(damage to MLF)
Bilateral = multiple sclerosis
Unilateral = stroke
25
Continuous "machinery" heart murmur
PDA (patent ductus arteriosus)
Close with indomethacin (COX inhibitor)
Open with misoprostol
DA stays open in presence of prostaglandins
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedma
(caused by hypothyroidism)
or
(caused by Grave's disease)
periorbital myxedma
27
Dark purple skin/mouth nodules
Kaposi's sarcoma
(associated with HHV-8 in AIDS patients)
28
Deep, labored breathing/hyperventilation
Kussmaul breating (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra
| (Niacin (B3) deficiency)
30
Dilated cardiomyopathy
Edema
Polyneuropathy
Wet beriberi
| (Thiamine [B1] deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida
| (cellulitis at inoculation site)
32
Dry eyes
Dry mouth
Arthritis
Sjogren's syndrome
(autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs)
Glossitis
Iron deficiency anemia
Plummer-Vinson syndrome
(from Iron deficiency, but its the triad of symptoms)
(can 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
| (abdominal metastasis)
36
Erythroderma
Lynphadenopathy
Hepatosplenomegaly
Atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma)
or
Mycosis fungoides
37
Facial muscle spasm on tapping
Chvostek's sign
| (hypocalcemia-facial nerve)
38
Fat
Female
40 yrs old
Fertile
Increased alkaline phosphatase
Acute cholelithiasis
| (bile duct blockage)
39
Fever, chills
Headache
Myalgia following antibiotic treatmet for syphilis
Jarisch-Herxheimer reaction
(rapid lysis of spirochetes results in toxin release)
40
Fever
Cough
Conjunctivitis
Coryza (cold symptoms like inflammed nasal mucosa)
Diffuse rash
Measles
| (Morbillivirus)
41
Fever
Night sweats
Weight loss
B symptoms
| (lymphoma)
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout
Mental retardation
Self-mutilating behavior in a boy
Lesch-Nyhan syndrome
(HGPRT deficiency)
(X-linked recessive)
44
Green-yellow rings around cornea
Kayser-Fleischer rings
(copper accumulation from Wilson's disease)
45
Hamartomatous GI polyps
Hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
(genetic benign polyposis can cause bowel obstruction)
(increased cancer risk)
46
Hepatosplenomegaly
Osteoporosis
Neurologic symptoms
Gaucher's disease
| (glucocerebrosidase deficiency)
47
Hereditary nephritis
Sensorineural hearing loss
Cataracts
Alport syndrome
(mutation in alpha chain of collagen type IV)
48
Hypercoagulability
(leading to migrating DVTs and vasculitis)
Trousseau's sign
| (adenocarcinoma of pancreas or lung)
49
Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility
Kluver-Bucy syndrome
| (bilateral amygdala lesion)
50
Hyperreflexia
Hypertonia
Positive Babinski sign
Upper motor neuron lesion (UMN)
51
Hypertension
Hypokalemia
Metabolic alkalosis
Conn's syndrome
52
Hyporeflexia
Hypotonia
Atrophy
Lower motor neuron lesion (LMN)
53
Hypoxemia
Polycythemia
Hypercapnia
"Blue bloater" chronic bronchitis
| (hyperplasia of mucous cells, COPD)
54
Nonpainful indurated, ulcerated genital lesion
Chancre
(1o syphilis, Treponema pallidum)
55
Painful indurated, ulcerated genital lesion with exudate
Chancroid (Haemophilus ducreyi)
56
Infant with failure to thrive
Hepatosplenomegaly
Neurodegeneration
Niemann-Pick disease
(genetic sphingomyelinase deficiency)
57
Infant with hypoglycemia
Failure to thrive
Hepatomegaly
Cori's disease
| (debranching enzyme deficiency)
58
Infant with microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defect
Edwards' syndrome
| (trisomy 18)
59
Keratin pearls on skin biopsy
Squamous cell carcinoma
60
Large rash with bull's eye appearance
Erythema chronicum migrans from tick bite
(Lyme disease: Borrelia)
61
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
62
Male child
Recurrent infections
no mature B cells
Bruton's disease
| (X-linked agammaglobulinemia)
63
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia
(defect in platelet aggregation due to lack of GpIIb/IIIa)
64
Multiple colon polyps
Osteomas/soft tissue tumors
Impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
65
Myopathy (infantile hypertrophic cardiomyopathy)
Exercise intolerance
Pompe's diease
(lysosomal alpha-1,4-glucosidase deficiency)
66
Necrotizing vasculitis (lungs)
Necrotizing glomerulonephritis
Wegener's (c-ANCA positive)
and
Goodpasture's syndrome (anti-basement memberane antibodies)
67
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy
(superior trunk [C5-C6] brachial plexus injury])
"waiter's tip"
68
No lactation postpartum
Absent menstruation
Cold intolerance
Sheehan's syndrome
| (pituitary infarction)
69
Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear ophthalmoplegia
Multiple sclerosis
70
Oscillating slow/fast breathing
Cheyne-Stokes respirations
(central apnea in CHF)
or
(increased intracranial pressure)
71
Painful blue fingers/toes
Hemolytic anemia
Cold agglutinin disease
(autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
72
Painful, pale, cold fingers/toes
Raynaud's syndrome
| (vasospasm in extremities)
73
Painful, raised lesions on palms and soles
Osler's node
| (infective endocardidits)
74
Painless erythematous lesions on palms and soles
Janeway lesions
| (infective endocardidits)
75
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
76
Palpable purpura on buttocks/legs
joint pain
abdominal pain (child)
Henoch-Schonlein purpura
(IgA vasculitis affecting skin and kidneys)
77
Pancreatic tumor
Pituitary tumor
Parathyroid tumor
MEN 1
| (autosomal dominant)
78
Pink complexion
Dyspnea
Hyperventilation
"Pink puffer"- Emphysema
(centroacinar [smoking])
(panacinar [alpha1-antitrypsin deficiency])
79
Polyuria
Acidosis
Growth Failure
Electrolyte imbalances
Fanconi's syndrome
(Proximal tubular reabsorption defect)
80
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
81
Ptosis
Anhydrosis
Miosis
Horner's syndrome
| (Face sympathetic chain lesion)
82
Pupil accommodates but does not react
Argyll Robertson pupil (neruosyphillis)
83
Rapidly progressive leg weakness that ascends
(following GI or upper respiratory infection)
Guillain-Barre syndrome
| (autoimmune acute inflammatory demyelinating polyneuropathy)
84
Rash on Palms and Soles
Coxsackie A
Rocky mountain spotted fever (Rikettsia Rickettsii)
2o Syphillis
(you drive CARS with palms and soles)
85
Recurrent colds
Unusual eczema
High Serum IgE
Hyper-IgE syndrome
| (Job’s syndrome: neutrophil chemotaxis abnormality)
86
Red “current jelly” sputum in alcoholic or diabetic patient
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 (anemia)
```
Paroxysmal nocturnal hemoglobinuira
89
Renal cell carcinoma (bilateral)
Hemangioblastoma
Angiomatosis
Pheochromocytoma
Von Hippel-Lindau disease
| (dominant tumor suppressor gene mutation)
90
Restring tremor
Rigidity
Akinesia
Postural instability
Parkinson’s disease
| (nigrostraitial dopamine deplethion)
91
Retinal hemorrhages with pale centers
Roth’s spots
| (bacterial endocarditis)
92
Severe jaundice in neonate
Crigler-Najjar syndrome
| (congenital unconjugated hyperbilirubinemia)
93
Severe RLQ pain with rebound tenderness
McBurney’s sign (appendicitis)
94
Short stature
Increased incidence of tumors/leukemia
Aplastic anemia
## Footnote
Fanconi’s anemia
(genetic loss of DNA crosslink repair)
(often progress to ALS)
95
Single palm crease
Simian crease
| (Down syndrome)
96
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility
Kartagener’s syndrome
| (dynein arm defect affecting cilia)
97
Skin hyperpigmentation
Addison’s disease
(increased ACTH and alpha-MSH production)
| (1o adrenocortical insufficiency)
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
## Footnote
Koplik spots
| (measles; rubeola virus)
100
Smooth, flat, moist white lesions on genitals
Condylomata lata (2o syphilis)
101
Splinter hemorrhage in fingernails
Bacterial endocardidits
102
Strawberry tongue
Scarlet fever
Kawasaki disease
Toxic shock syndrome
103
Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth
Turner syndrome
(45XO)
(short stature, webbed neck, lymphedema)
104
Sudden swollen/painful big toe joint
Tophi (deposit of urate crystals)
Gout/podagra
| (hyperuricemia)
105
Swollen gums
Mucous bleeding
Pour wound healing
Spots on skin
Scurvy
(vitamin C deficiency)
(cannot hydroxylate proline/lysine for collagen synthesis)
## Footnote
106
Swollen, hard, painful finger joints
Osteoarthritis
(osteophytes on PIP [Bouchard’s nodes])
(osteophytes on DIP [Heberden’s nodes])
107
Systolic ejection murmur
(crescendo-decresendo)
Aortic valve stenosis
108
Thyroid tumors
Parathyroid tumors
Pheochromocytoma
MEN 2A
| (autosomal dominant ret mutation)
109
Thyroid tumors
Pheochromocytoma
Ganglioneuromatosis
MEN 2B
| (autosomal dominant ret mutation)
110
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
111
Unilateral facial drooping involving forehead
Bell’s palsy (LMN VII palsy)
112
Urethritis
Conjuctivitis
Arthritis
All in a male
Reactive arthritis associated with HLA-B27
113
Vascular birthmark (port-wine stain)
Hemangioma
| (Benign but associated with Sturge-Weber syndrome)
114
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome
| (alcoholic and bulimic patients)
115
“Waxy” casts with very low urine flow
Chronic end-stage renal disease
116
WBC casts in urine
Acute pyelonephritis
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s disease
| (Tropheryma whippelii)
118
“Worst headache of my life”
Subarachnoid hemorrhage
