Classic Presentations Flashcards

1
Q

Abdominal Pain
Ascites
Hepatomegaly

A

Budd-Chiari syndrome

post-hepatic thrombosis

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2
Q

Abdominal Pain
Diarrhea
Leukocytosis
Recent antibiotic use

A

Clostridium difficile infection

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3
Q

Achilles tendon xanthomas

A

Familial hypercholesterolemia
AKA Type II hyperlipoproteinemia

(decreases LDL receptor signalling)

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4
Q

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-friderichsen syndrome

(meningococcemia)

N. meningitidis

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

positive Anterior “drawer sign”

A

ACL injury (anterior cruciate ligament)

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7
Q

Arachnodactyly
lens dislocation (upward)
Aortic dissection
Hyperflexible joints

A

Marfans syndrome (fibrillin defect)

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8
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

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9
Q

Back pain
Fever
Night sweats

A

Pott disease (vertebral TB)

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10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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11
Q

Bilateral hilar lymhadenopathy

uveitis

A

Sarcoidosis (non-caseating granulomas)

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12
Q

Black eschar on face of patient with DKA

A

mucor or rhizopus fungal infection

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13
Q

Blue scera

A

Osteogenesis imperfecta (type 1 collagen defect)

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14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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15
Q

Bone pain
Bone enlargement
Osteoparosis

A

Pagets disease of the bone

Increase osteoblastic and osteoclastic activity

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16
Q

Bounding pulses
Wide pulse pressure
Diastolic murmur
head bobby

A

Aortic regugitation

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17
Q

“Butterfly” facial rash
Raynaud phenomenon
young female

A

Systemic lupus erythematous

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18
Q
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
Cutaneous neurofibromas 
pheochromocytoma
optic glioma
A

Neurofibromatosis type 1

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19
Q

Cafe-au-lait sits (unilateral)
Polyostotic fibrous displasia
percocious puberty
multiple endocrine abnormalities

A

McCune Albright Syndrome

mosaic G-protein signaling mutation

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20
Q

Calf pseudohypertrophy

A

Muscular dystrophy

most commonly Duchenne, due to x-line recessive frameshift mutation of dystrophin gene

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21
Q
Cervical lymphadenopathy
Desquaminating rash
coronary aneurysms
Red conjunctiva and tongue
Hand-foot changes
Asian race
A

Kawasaki disease
(acute, self-limiting necrotizing vasculitis)

Tx: IVIG and aspirin

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22
Q

“cherry-red” spot on macula

A

Tay Sachs (ganglioside accumulation)

or

Neimann-pick (sphingomyelin accumulation)

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23
Q

Chest pain on exertion

A

Angina

stable: with moderate exertion
(unstable: with minimal exertion or at rest)

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24
Q

Chest pain
Pericardial effusion/friction rub
persistent fever following MI

A

Dressler Syndrome
(auto-immune mediated ost MI fibrinous pericarditis)
(2 weeks to several months after acute MI)

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25
Chest pain with ST depression
Unstable angina (with neg troponin) or NSTEMI (positive troponin)
26
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gower's sign)
27
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/ fifth disease ("slapped cheek" appearance, caused by parvovirus B19)
28
Chorea dementia caudate degeneration
Huntington's disease | autosomal dominant CAG repeat expansion
29
Chorioretinitis hydrocephalus intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance with myalgia Fatigue Painful cramps Myoglobinuria
``` McArdle disease (skeletal muscle glycogen phosphorylation deficiency) (glycogenolysis deficiency) ```
31
Cold intollerance
hypothyroid
32
Conjugate horizontal gase palsy | horizontal diplopia
Internuclear opthalmoplegia | damage to MLF, may be u/l or b/l
33
Continuous "machine-like" heart murmur
PDA | close with indomethacin, NSAID (keep open with PGE analogs)
34
Cutaneous/dermal edema due to connective tissue disorer
Myxedema (caused by hypothyroidism, grave's disease) esp. pre-tibial
35
Cutaneous flushing diarrhea bronchospasm
Carcinoid syndrome | right-sided cardiac valvular lesion, increase serotonin (5-HIAA)
36
Dark purple skin/mouth nodules in patient with HIV
Kaposi sarcoma (HHV-9)
37
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
38
Dermatitis Dementia Diarrhea
Pellagra (niacin deficiency) Niacin = vit. B3
39
Dilated cardiomyopathy edema alcoholism, or malnutrition
Wet beri beri (thiamine deficiency) thiamine = vitamine B1
40
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at innoculation site) tx: penicillin
41
Dry eyes Dry mouth Arthritis
``` Sjogren syndrome (autoimmune destruction of exocrine glands) ```
42
Dysphagia (esohageal webs) Glossitis Iron deficiency anemia
Plummer-Vinson syndrome | may progress to esophageal squamous cell carcinoma
43
Elastic skin hypermobility of joints increased bleeding tendency
Ehlers-Danlos syndrome (type V collage defect) Type II collagen defect seen in vascular subtype of ED
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
45
Episodic vertigo tinnitus hearing loss
Meneire disease
46
Erythroderma Lymphadenopathy hepatosplenomegaly Atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
47
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
48
Fat Female Forty Fertile
Cholelithiasis (gall stones)
49
Fever, cells, headache, mayalgia | following antibiotic tx for syphyllis
Jarisch-Herheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
50
Fever, cough, conjunctivitis, coryza, diffuse rash
measles
51
Fever, night sweats, weight loss
B symptoms of lymphoma
52
fibrous plaques in soft tissue of penis with abnl curvature
Peyronie's disease (connective tissue disorder)
53
Golden brown rings around peripheral cornea
Wilson disease (Kayser-fleischer rings due to copper accumulation
54
Gout Intellectual disability Self-mutilating behavior in a boy
Lesch Nyhan HGPRT deficiency X-linked recessive
55
Hamartomatous GI polyps | Hyperpygmentation of mouth, feet, genitalia
Peutz-Jegher syndrome Bowl obstruction autosomal dominant (mutation in STK11, serine threonine kinase tumor suppressor gene) Increased risk for malignancy
56
``` Hepatosplenomegaly Pancytopenia Osteoporosis Aseptic necrosis of femoral head Bone crisis ```
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis sensorineural hearing loss cataracts
Alport syndrome | mutation in collagen IV
58
Hyperphagia Hypersexuality Hyperorality Hypercacility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia Hypertonia Babinski sign
UMN damage
60
Hyporeflexia hypotonia atrophy fasciulations
LMN damage
61
Hypoxemia polycythemia hypercapnia
Chronic bronchitis | hyperplasia of mucus cells, blue bloaters
62
Indurated, ulcerated genital lesions
Nonpainful: chancre (syphilis) Painful with exudate: Chancroid (haemophilus ducreyi)
63
Infant with cleft palate microcephaly or holoprosencephaly polydactyly cutis aplasia
Patau syndrome (trisomy 13)
64
Infants with hypoglycemia and hepatomegaly
Cori disease (debranching enzyme deficiency) Van Gierke disease (glucose-6-phosphate deficiency, more severe)
65
jaundice | palpable distended non-tender gallbladder
``` Courvoisier sign (distal malignant destruction of biliary tree) ```
66
Infants with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards Syndrome | trisomy 18
67
Large rash with bulls-eye appearance
Lyme disease Borrelia From ixodes tick bite tx: doxycycline
68
Lucid interval after TBI
Epidermal hematoma (middle meningeal artery rupture)
69
Male child, recurrent infections, no mature B cells
Burton disease (x-inked agammaglobulinemia)
70
Mucosal bleeding | Prolonged bleeding time
Glanzmann thrombobasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
71
Muffled heart sounds distended neck veins hypotension
Beck triad of cardiac tamponade
72
Multiple colon polyps Osteomas/soft tissue tumors impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
73
Myopathy (infantile hypertrophic cardiomyopathy) | exercise intollerance
``` Pompe disease (lysosomal alpha-1,4-glucosidase deficiency) ```
74
Neonate with arm paralysis following birth
Erb-duchenne palsy (superior trun C5-c6 brachial plexus injury) "waiters-tip"
75
No lactation post partum absent menstruation cold intollerance
Sheehan syndrome (pituitary infarction)
76
Nystagmus Intention tremor Scanning speech Bilateral internuclear opthalmoplegia
Multiple sclerosis
77
Painful blue fingers/toes | hemolytic anemia
Cold agglutination disease (auto-immune hemolytic anemia caused by mycoplama pneumonia, infectious mononucleosis, CLL)
78
painful fingers/toes that change color from white to blue with cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
Painful, raised red lesions on palm and soles
janeway lesions (infective endocarditis, septic emboli/microabscesses)
80
Painless jaundiece
Cancer of the pancreatic head obstructing bile duct
81
Palpable purpura on buttocks/legs joint pain abdominal pain (child) hematuria
Henoch-Shonlein purpura (IgA vasculitis affecting skin and kidneys)
82
Pancreatic, pituitary, parathyroid tumors
MEN 1 (Autosomal dominant)
83
Periorbital and/or peripheral edema proteinuria (>3.5 g/day) hypoalbuminemia Hypercholesterlemia
Nephrotic syndrome
84
Pink complexion dyspnea hyperventilation
Emphysema ("pink puffer", centriacinar (smoking) or panacinar (alpha1 anti-trypsin deficiency))
85
``` Polyuria Renal tubular acidosis type II growth failure electrolyte imbalances hypophosphatemic rickets ```
Falconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
86
Pruritic, purple, polygonal planar papules and plaques (6 p's)
Lichen planus
87
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
88
Pupil accommodates but doesn't react
Neurosyphilis (argyll robertson pupil)
89
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demylenating polyradiculopathy subtype)
90
Rash on palms and soles
Coxsackie A, Secondary syphilis Rocky mountain spotted fever
91
Recurrent cold noninflamed abscesses unusual eczema high serum IgE
hyper IgE (Job syndrome, abnormal neutrophil chemotaxis)
92
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
93
Red "currant Jelly" stools
Acute mesenteric ischemia (adults) | Inussusception (children)
94
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
95
Red urine in the morning | Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
96
Renal cell carcinoma (b/l) hemangioblastoma angiomatosis pheochromocytomai
Von Hipple-lindau disease (dominant tumor suppressor gene mutation) down regulates a transcription factor (HIF-1) involved in the expression of VEG-F and erythropoieten
97
``` Resting tremor Rigidity Akinesia Postural instability shuffling gat ```
Parkinson's disease (loss of dopaminergic neurons in substantia nigra)
98
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
99
Severe jaundice in neonate
Crigler-Nejjar syndrome (congenital unconjugated hyperbilirubinemia)
100
Severe RLQ pain with palpation of LLQ
Rovsing's sign (acute appendicitis)
101
Severe RLQ pain with deep tenderness
McBurney's sign (acute appendicitis)
102
``` Short stature Cafe au-lait spots thumb/radial defects Increased incidence of tumors/leukemia aplastic anemia ```
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
103
Single palmar crease
Down syndrome
104
Situs inversus Chronic sinusitis bronchiestasis infertility
Kartagener syndrome (dynein arm defect affecting cilia)
105
skin hyperpigmentation hypotension fatigue
primary adrenocotical insufficiency (ex: addison's disease) | Causes increased ACTH and Increased Alpha-MSH production)
106
Slow, progressive muscle weakness in boys
Becker Muscular dystrophy (x-linked missense mutation in dystrophin, less severe than duchenne)
107
Small, irregular red sots on buccal/lingual mucosa with blue/white centers
Koplik spots (measels)
108
Smooth, moist, painless wart-like lesion on genitals
Condyloma lata (secondary syphilis)
109
Splinter hemorrhages in fingernails
Bacterial endocarditis
110
"Strawberry tongue"
Scarlet fever | Kawasaki disease
111
``` Streak ovaries Congenital heart disease Horse shoe kidney cystic hygroma at birth Short stature Webbed neck Lymphedema ```
Turner syndrome (45, XO)
112
Sudden swollen/ painful big toe joint | Tophi
Gout (hyperuricemia)
113
Systolic ejection murmur (Crescendo-decrescendo)
Aortic stenosis
114
``` Telangiectasia Recurrent epistaxis Skin discoloration Arteriovenous malformations GI bleeding Hematuria ```
Osler-Weber-Rendu syndrome | Hereditary hemorrhagic telangiectasia
115
Thyroid and parathyroid tumors | Pheochromocytoma
MEN2A | autosomal dominant RET mutation
116
Thyroid tumor Pheochromocytoma Ganglioneuromatosis
MEN2B | AD RET mutation
117
Toe extension/fanning upon palmar scrape
Babinski sign (UMN lesion)
118
Unilateral facial drooping involving forehead)
LMN facial nerve palsy UMN lesion spare the forehead
119
Urethritis Conjunctivitis arthritis in a male
Reactive arthritis associated with HLA-B27
120
Vascular birthmark (port wine stain) on face
Nevus flammeus (benign, but associated with sturge-weber syndrome)
121
Vomiting blood following gastroesophageal laceration
Mallory-Weiss syndrome | alcoholic and bulimic patients
122
Weight loss diarrhea fever Lymphadenopahty
Whipple disease (Tropheryma whipplei)
123
"Worst headache of my life"
Subarachnoid hemorrhage