Clinical Presentation Flashcards
1
Q
Cutaneous/Dermal Edema due to CT deposition
A
Myxedema (caused by hypothyroidism, Grave’s Disease [periorbital])
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 Fridrichesin syndrome (meningoccemia)
4
Q
Arachnodactyly, Lens dislocation, Aortic Dissection, Hyperflexible Joints
A
Marfan’s Syndrome (fibrillin defect)
5
Q
Athlete w/Polycythemia
A
EPO injection
6
Q
Back Pain, Fever, Night Sweats, Weight Loss
A
Pott’s Disease (vertebral TB)
7
Q
Bilateral Hilar Adenopathy. Uveitis
A
Sarcoidosis (noncaseating granuloma)
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 (increase osteoblastic and osteoclastic activity)
11
Q
Bounding Pulses, Diastolic Heart Murmur, Head Bobbing
A
Aortic Regurgitation
12
Q
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
A
Systemic Lupus Erythematosus
13
Q
Cafe au lait spots, Lisch Nodules (iris hamartoma)
A
Neurofibromatosis Type I (+pheochromocytoma, optic gliomas); Neurofibromatosis Type II (+bilateral acoustic neuromas)
14
Q
Cafe au lait spots, Polyostotic 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 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 weels after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gower’s sign (Duchenne Muscular Dystrophy)
20
Q
Child w/fever develops red rash on face that spreads to body
A
“Slapped Cheeks” (erythema infetiosum/5th disease: parvovirus B19)
21
Q
Chorea, Dementia, Caudate Degeneration
A
Huntington’s Disease (AD CAG repeat expansion)
22
Q
Chronic Exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s Disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear Ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]
25
Continual "machinery" heart murmur
PDA (close w/Indomethacin; open w/Misoprostol)
26
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients [gay men]: associated w/HHV-8)
27
Deep, labored breathing/hyperventilation
Kussmal's breathing (DKA)
28
Dermatitis, Dementia, Diarrhea
Pellegra (Niacin [vitamin B3] deficiency)
29
Dilated Cardiomyopathy, Edema, Polyneuropathy
Wet Beriberi (thiamine [vitamin B1 deficiency])
30
Dog or Cat bite resulting in infection
*Pasteurella Multocida* (cellulitis at inoculation site)
31
Dry eyes, dry mouth, arthritis
Sjorgen'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, hypermobility of joints
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 mycoses fungoides
36
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
37
Fat
Female
Forty
Fertile
Acute Cholelithiasis (bile duct blockage)
38
Fever, chills, H/A, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
39
Fever, cough, conjunctivitis, coryza, diffuse rash
Mealers (morbillivirus)
40
Fever, Night Sweats, Weight Loss
B symptoms (lymphoma)
41
Gout, Mental retardation, self mutilating behavior in boy
Lesch-Nyhan Syndrome (HGPRT deficiency, X-Linked Recessive)
42
Green yellow rings around peripheral cornea
Kayser Flesicher rings (copper accumulations from Wilson's Disease)
43
Hamartomatous GI polyps
Hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polypsis can cause bowel obstruction; increase cancer risk)
44
Hepatosplenomegaly
Osteoporosis
Neurologic Sx
Gaucher's Disease
| (glucocerebrosidase deficiency)
45
Hereditary Nephritis
Sensorineural Hearing Loss
Cataracts
Alport Syndrome
(mutation in alpha chain of collagen IV)
46
Hypercoagulability (leading to migrating DVTs and Vasculitis)
Trosseau's Sign (adenocarcinoma of pancreas or lung)
47
Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility
Kluver-Bucy Syndrome
| (bilateral amygdala lesion)
48
Hyperreflexia
Hypertonia
Positive Babinski sign
UMN damage
49
HTN
Hypokalemia
Metabolic Alkalosis
Conn's Syndrome
50
Hyporeflexia
Hypotonia
Atrophy
LMN damage
51
Hypoxemia
Polycythemia
Hypercapnia
"Blue Bloater" (chronic bronchitis: hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful: chancre (Primary Syphilis, *Treponema pallidum*)
Painful w/exudate: chancroid (*Haemophilus ducreyi*)
53
Infant w/failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
54
Infant w/hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease
| (debranching enzyme deficiency)
55
Infant w/microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
56
Keratin pearls on skin biopsy
Squamous cell carcinoma
57
Large rash w/bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite
(Lyme Disease: Borrelia)
58
Lucid interval after traumatic brain injury TBI
Epidural hematoma
| (middle meningeal artery rupture)
59
Male child
Recurrent Infections
No mature B cells
Bruton's Disease
| (X linked ammaglobulinemia)
60
Mucosal Bleeding and Prolonged Bleeding Time
Glanzmann's Thrombasthenia
(defcet in platelet aggregation due to lack of GpIIb/IIIa)
61
Multiple colon polyps
osteomas/soft tissue tumors
impacted/supernumerary teeth
Gardner's syndrome
| (subtype FAP)
62
Myopathy (Infantile hypertrophic cardiomyopathy)
Exercise Intolerance
Pompe's Disease
(lysosomal alpha 1,4 glucosidase deficiency)
63
Necrotizing Vasculitis (lungs)
and Necrotizing Glomerulonephritis
Wegener's (C-ANCA +) and
Goodpasture's Syndromes (anti basement membrane ab's)
64
Neonate w/arm paralysis following difficult birth
Erb-DUchenne palsy
(superior trunk C5-6 brachial plexus injury: waiter's tip)
65
No lactation postpartum
Absent mentruation
Cold Intolerance
Sheehan's Syndrome
| (pituitary infarction)
66
Nystagmus
Intention tremor
Scanning speech
Bilateral Internuclear ophthalmoplegia
Multiple Sclerosis
67
Oscillating slow/fast breathing
Cheyne-Stokes respirations
(central apnea in CHF or increased intracranial pressure)
68
Painful blue fingers/toes
Hemolytic Anemia
Cold Agglutinin Disease
(autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
69
Painful, pale, cold fingers/toes
Raynaud's Syndrome
| (vasospasm in extremities)
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-Schonlein Purpura
(IgA vasculitis affecting skin and kidneys)
74
Pancreatic
Pituitary
Parathyroid tumors
MEN 1 (AD)
75
Pink complexion
Dyspnea
Hyperventilation
"Pink Puffer"
(emphysema: centroacinar [smoking]; panacinar: alpha 1 antitrypsin deficiency)
76
Polyuria
Acidosis
Growth Failure
Electrolyte Imbalances
Fanconi's syndrome
(proximal tubular reabsorption defect)
77
Positive Anterior Drawer Sign
Anterior Cruciate Ligament ACL injury
78
Ptosis
Miosis
Anhidrosis
Horner's Syndrome
| (sympathetic chain lesion)
79
Pupil accomodates but DN react
Argyll Robertson pupil
| (neurosyphilis)
80
Rapidly progressive leg weakness that ascends
(following GI/URI)
Guillan-Barre syndrome
(autoimmune acute inflammatory demyelinating polyneuropathy)
81
Rash on palms and soles
Coxsackie A
Secondary Syphilis
Rocky Mountain Spotted Fever
82
Recurrent Colds
Unusual Eczema
High Serum IgE
Hyper IgE Syndrome
(Job's syndrome: neutrophil chemotaxis abnormality)
83
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
84
Red, itchy, swollen rash of nipple/areola
Paget's Disease of the breast
| (representing underluing neoplsm)
85
Red urine in the morning
Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
86
Renal Cell Carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma
vHL Disease
(dominant tumor suppressor gene mutation)
87
Resting tremor
Rigidity
Akinesia
Postural Instability
Parkinson's Disease
| (nigostriatal DA depletion)
88
Retinal Hemorrhages w/pale centers
Roth's spots (bacterial endocarditis)
89
Severe Jaundice in Neonate
Crigler-Najjar Syndrome
(congenital unconjugated hyperbilirubinemia)
90
Severe RLQ pain w/rebound tenderness
McBurney's sign (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 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 increased ACTH and alpha MSH production)
95
Slow, progressive muscle weakness in boys
Becker's Muscular Dystrophy
(X linked missense mutation in dystrophin;
less severe than Duchenne's)
96
Small, irregular red spots on buccal/lingual mucosa w/blue white centers
Koplik Spots
| (measle's; rubeola virus)
97
Smooth, flat, moist white lesions on genitals
Condylomata Lata
| (Secondary syphilis)
98
Splinter Hemorrhages in fingernails
Bacterial Endocarditis
99
"Strawberry Tongue"
Scarlet Fever
Kawasaki Disease
Toxic shock syndrome
100
Steak Ovaries
Congenital Heart Disease
Horseshoe Kidney
Cystic Hygroma at birth
Turner Syndrome
(45X,O, short stature, webbed neck, lymphedema)
101
Sudden swollen/painful big toe joint, tophi
Gout/Podagra
| (hyperuricemia)
102
Swollen Gums
Mucous Bleeding
Poor Wound Healing
Spots on Skin
Scurvy
(vitamin D deficiency: can't hydroxylate proline/lysine for collagen synthesis)
103
Swollen, hard, painful finger joints
Osteoarthritis
(osteophytes on PIP [Buchard's nodes],
DIP [Heberden's nodes])
104
Systolic Ejection Murmur
| (crescendo-decrescendo)
Aortic Valve Stenosis
105
Thyroid and Parathyroid tumors
Pheochromocytoma
MEN 2A
| (AD ret mutation)
106
Thyroid tumors
Pheochromocytoma
Ganglioneuromatosi
MEN 2B (AD ret mutation)
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 Male
Reactive arthritis associated w/HLA-B27
110
Vascular birthmark (port wine stain)
Hemangioma
(benign, but associated w/Sturge-Weber syndrome)
111
Vomiting blood following esophagogastric lacerations
Mallory Weiss Syndrome
| (alcoholic and bulimic patients)
112
"Waxy" casts w/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
| (Tropherma whippelli)
115
"Worst H/A of my life"
Subarachnoid hemorrhage
