Classic Presentations Flashcards

(127 cards)

1
Q

Abdominal Pain
Ascites
Hepatomegaly

A

Budd Chiari Syndrome

Post hepatic venous 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 xanthoma

A

Familiar Hypercholesterolemia

DEC LDL receptor signaling

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4
Q

Adrenal Hemorrhage
Hypotension
DIC

A

Waterhouse-Friderichsen syndrome

meningococcemia

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5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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6
Q

Anterior “drawer sign” (+)

A

Anterior cruciate ligament injury

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7
Q

Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints

A
Marfan syndrome 
(fibrillin defect) 

Chromosome 15*

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8
Q

Athlete with polycythemia

A

2’ 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 adenopathy

Uveitis

A

Sarcoidosis

non caseating granulomas

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12
Q

Black escar on face of DKA patient

A

Mucor or Rhizopus fungal infection

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13
Q

Blue sclera

A
Osteogenesis imperfecta 
(Type I 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
Arthritis

A

Paget disease of bone

INC osteoblastic and osteoclastic activity

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16
Q

Bounding pulses
Diastolic heart murmur
Head bobbing

A

Aortic Regurgitation

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17
Q

Young female
“Butterfly” facial rash
Raynaud phenomenon

A

Systemic lupus erythematosus

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18
Q
Cafe-au-lait spots 
Lisch nodules (iris hamartoma) 
Cutaneous neurofibromas 
Pheochromocytomas 
Optic Gliomas
A

Neruofibromatosis type I
Pheochomocytoma
Optic gliomas

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19
Q

Cafe-au-lait spots (unilateral)
Polyostotic fibrous dysplasia
Precocious 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 d/t X-linked recessive frameshift mutation of dystrophin gene

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21
Q

Cervical lymphadenopathy
Desquamating rash
Coronary aneurysms
Red conjuctivae and tongue

A

Kawasaki disease
(treat with IV Ig and aspirin)

*Fever for 5 days

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22
Q

“Cherry Red spots” on macula

A
Tay-Sachs (ganglioside accumulation) 
or 
Niemann-Pick (Sphingomyelin accumulation) 
or 
Central retinal artery occlusion
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23
Q

Chest pain on exertion

A

Angina

  • Stable: moderate exertion
  • Unstable: with minimal exertion or rest
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24
Q

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

A
Dressler syndrome 
(autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)
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25
Chest pain with ST depressions on EKG
Unstable angina (tropins negative) or NSTEMI (troponins positive)
26
Child uses arms to stand up from squat
Gowers sign (Duchenne muscular dystrophy)
27
Child with fever later develops red rash on face that spreads to body
"Slapped cheeks" - Erythema infectiosum aka - fifth disease aka - Parvo virus B19
28
Cholera, dementia, caudate degeneration
Huntington disease (AD CAG repeat expansion) *DNA disease
29
Chorio-retinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
``` McArdle diseaes (Skeletal muscle glycogen phosphorylase deficiency) ```
31
Cold Intolerance
Hypo-thyroidism
32
Conjugate horizontal gaze palsy, horizontal diplopia
Inter-nuclear ophthlmoplegia (damage to MLF; may be unilateral or bilateral)
33
Continuous "machine-like" heart murmur
PDA - Close with indomethacin - open/maintain with PGE analogs
34
Cutaneous/dermal edema d/t connective tissue deposition
Myxedema - hypo-thyroidism - Grave's diseae (pre-tibial)
35
Cutaneous flushing, diarrhea, bronchospam
Carcinoid syndrome - right sided cardiac valvular lesions - INC 5-HIAA
36
Dark purple skin/mouth nodules in patient with AIDS
Kaposi sarcoma (HHV-8)
37
Deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
38
Dermatitis, dementia, diarrhea
Pellagra (Niacin/B3 deficincy) *NAD/Tryptophan def
39
Dilated cardiomypathy Edema Alcoholism or malnutrition
``` Wet beriberi (Thiamine B1 deficiency) ```
40
Dog/Cat bite resulting in infection
Pasteurella multocida | cellulitis at inoculation site
41
Dry eyes Dry mouth Arthritis
Sjogren | Autoimmune destruction of EXO-crine glands
42
Dysphagia (esophageal webs) Glossitis Iron deficiency anemia
Plummer-Vinson Syndrome | May progress to esophageal squamous cell carcinoma
43
Elastic skin Hypermobility of joints INC bleeding tendency
Ehlers-Danlos syndrome - Type V collagen defect - Type III collagen defect seen in *vascular subtype of ED
44
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis
45
Episodic vertigo Tinnitus Hearing loss
Meniere disease | *INC volume and pressure of vestibular endolymph
46
Erythro-derma Lymphadenopathy Hepato-Splenomegaly atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) Sezary syndrome (mycosis fungoides + malignant T cells in blood)
47
Facial muscle spasm upon tapping
Chvostek sign (hypO-calcemia)
48
Fat Female Fertil Forty
Cholelithiasis (gallstones)
49
``` Fever Chills Headache Myalgia following antibiotic Tx for syphilis ```
Jarisch-Herxheimer reaction | rapid lysis of spirochetes results in endo-toxin release
50
``` Fever Cough Conjunctivitis Coryza Diffuse rash ```
Measles
51
Fever Night sweats Weight loss
B symptoms (staging) of lymphoma
52
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (Connective tissue disorder)
53
Golden brown rings around peripheral cornea
Kayser-Fleischer | copper accumulation from Wilson Disease)
54
Gout Intellectual disability Self mutilating behavior Boy
Lesch-Nyhan syndrome - HGPRT deficiency - X-linked recessive
55
``` Hamartomatous GI polyps Hyperpigmentation (muscutaneous macules) of: - mouth - feet - genitalia ```
Peutz-Jeghers syndrome - inherited - benign polyposis can cause bowel obstruction - INC cancer risk, mainly GI
56
``` Hepato-Splenomegaly Pancytopenia Osteoporosis Aseptic necrosis of the femur Bone crisis ```
Gaucher disease - Glucocerebrosidase deficiency * BONY disease
57
Hereditary nephritis Sensorineural hearing loss Cataracts
Alport syndrome Collagen type IV mutation
58
Hyper-Phagia Hyper-Sexuality Hyper-Orality Hyper-Docility
Kluver-Bucy Syndrome Bilateral Amygdala lesion
59
Hyper-Reflexia Hyper-Tonia Babinski (+)
UMN lesion
60
Hypo-Reflexia Hypo-Tonia Atrophy Fasciculations
LMN lesion
61
Hypoxemia Polycythemia Hyper-Capnia
BLUE bloater - Chronic bronchitis - Hyperplasia of mucous cells
62
Indurated, ulcerated genital lesion
Pain-LESS - Chancre (1' Syphilis/T pallidum) Pain-FULL + Exudate: Chancroid (H ducreyi)
63
Infant with "cherry red" spot on macula Hepatosplenomegaly Neurodegeneration
Niemann-Pick disease genetic sphingomylinase deficiency
64
Infant with cleft lip/palate Microcephaly or holo-prosen-cephaly Polydactyly Cutis aplasia
Patau syndrome Trisomy 13
65
Infant with hypO-glycemia | Hepatomegaly
``` Cori disease (debranching enzyme deficiency) -or- Von Gierke disease (glucose-6-phosphatase deficiency, more severe) ```
66
Infant with microcephaly Rocker-bottom feet Clenched hands structural heart defect
Edwards syndrome Trisomy 18
67
Jaundice | Palpable distended, NON-tender gallbladder
Courvoisier sign | distal obstruction of biliary tree
68
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite | - Lyme disease/Borrelia
69
Lucid interval after traumatic brain injury
Epidural hematoma | - Middle menigeal artery rupture
70
Male child Recurrent infections NO mature B cells
Bruton disease | X linked A-gamma-globinemia
71
Mucosal bleeding | Prolonged Bleeding time
Glanzmann Thrombasthenia Defect in platelet aggregation due to lack of GpIIb/IIIa
72
Muffled heart sounds Distended neck veins hypO-tension
Beck triad of cardiac tamponade *pericardiocentesis
73
Multiple colon polyps Osteomas/soft tissue tumors Impacted/supernumerary teeth
Gadner syndrome | subtype of FAP
74
Myopathy (infantile hypertrophic cardiomyopathy) | exercise intolerance
Pompe disease lysosomal alpha-1-4-glucosidase deficiency
75
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy superior trunk C5-C6 brachial plexus "Waiter's tip"
76
No lactation post-partum Absent menstruation Cold intolerance
Sheehan syndrome (pituitary infarction)
77
Nystagmus Intention tremor Scanning speech Bilateral Internuclear ophthalmoplegia
Multiple sclerosis
78
Pain-ful blue fingers/toes | Hemolytic anemia
Cold agglutinin disease Autoimmune hemolytic anemia caused by: - Mycoplama pneumonia - Infectious mononucleosis - CLL
79
Pain-ful fingers/toes | Changing in color from blue-white-red with cold/stress
Raynaud phenomenon (vasospasm in extremities)
80
Pain-ful, raised nodules on pads of fingers/toes
Osler nodes - Infective endocarditis - Immune complex deposition
81
Pain-LESS erythematous lesions on palms and soles
Janeway lesions - Infective endocarditis - Septic emboli - Microabscesses
82
Painless jaundice
Cancer of the pancreatic head that obstructs the bile duct
83
Palpable purpura on buttocks/legs Joint Pain Abdominal Pain (child) Hematuria
Henoch-Schonlein purpura (HSP) IgA vasculitis affecting - SKIN - KIDNEYS
84
Tumors in - Pancreas - Pituitary - Parathyroid
MEN 1 | - Auto Dominant
85
Peri-orbital and/or peripheral edema Proteinuria HypO-albuminemia Hyper-cholesterolemia
Nephr-O-tic syndrome
86
Pink complexion Dyspnea Hyper-ventilation
Pink Puffer Emphysema - Central acinar (smoker) - Pan acinar (alpha 1 anti trypsin deficiency) - Para-septal / Distal acinar (tall thin, apical bleb)
87
``` Polyuria Renal tubular acidosis type II Growth Failure Electrolyte imbalances Hypo-Phosphatemic rickets ```
Fanconi syndrome - Multiple combined dysfunction of the PROXIMAL convoluted tubule
88
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
89
Ptosis Miosis Anhidrosis
Horner syndrome | - Sympathetic chain lesion
90
Pupil accommodates but does not react
Argyll Robertson Pupil | - Neuro-Syphilis
91
Rapidly progressive limb weakness | Ascends following GI/AURT infection
Guillain-Barre syndrome | - Acute inflammatory de-mylinating poly-radiculo-pathy subtype
92
Rash on palms and soles | DDx:
Coxackie A 2' Syphilis Rocky Mountain spotted fever
93
Recurrent cold (non-inflammed) abscess Unusual eczema HIGH serum IgE
Hyper-IgE syndrome Job syndrome: neutrophil chemotaxis abnormality
94
Red "currant jelly" sputum in - Alcoholics - Diabetics
Klebsiella pneumoniae pneumonia
95
Red "currant jelly" stools in - Adults - Children
Adults: Acute mesenteric ischemia Children: Intussusception
96
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast - sign of underlying neoplasm - * "Ugly nipples"
97
Red urine in the morning | Fragile RBCs
Paroxysmal nocturnal hemo-globin-uria
98
Renal cell carcinoma (bilateral) Hemangio-blastomas Angio-matosis Pheochromocytoma
von Hippel-Lindau disease Dominant tumor suppressor gene mutation
99
``` Resting tremor Rigidity Akinesia Postural instability Shuffling gait ```
Parkinson's disease | loss of dopaminergic neurons in substantia nigra pars compacta
100
Retinal hemorrhages with pale centers
``` Roth spots (bacterial endo-carditis) ```
101
Severe jaundice in neonate
Crigler-Najjar syndrome | congenital uncongugated hyper-bilirubinemia
102
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute AP)
103
Severe RLQ pain with rebound tenderness
McBurney sign (acute AP)
104
``` Short stature Cafe au lait spots Thumb/radial defects INC incidence of tumors/leukemia Aplastic anemia ```
Fanconi anemia - Genetic loss of DNA crosslink repair - Often progresses to AML
105
Single palmar crease
Down syndrome
106
Situs inversus Chronic sinusitis Bronchiectasis Infertility
Kartagener syndrome | dynein arm defect affecting cilia
107
Skin hyper-pigmentation Hypo-tension Fatigue
1' adreno-cortical insufficiency (Addison's disease) causes - INC ACTH - INC alpha-MSH
108
Slow, progressive muscle weakness in boys
Becker Muscular Dystrophy - X linked mis-sense mutation in dystrophin - Less severe than Duchenne
109
Small, irregular red spots on buccal/lingual mucosa with blue white centers
Koplik spots - Measles/Rubeola virus
110
Wart-like genital lesion - smooth - moist - pain-less
Condylomata lata - 2' syphilis
111
Splinter hemorrhages in fingernails
Bacterial endocarditis
112
Strawberry tongue | DDx (2)
Scarlet fever | Kawasaki disease
113
``` Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth Short stature Webbed neck Lymphedema ```
Turner syndrome (45, XO)
114
Sudden swollen/painful big toe joint | Tophi
Gout / Podagra (hyper-uricemia)
115
Swollen gums Mucosal bleeding Poor wound healing Petechiae
Scurvy - Vit C deficiency - can't hydroxylate proline/lysine for collagen synthesis
116
Swollen, hard, painful finger joints
Osteo-arthritis - Osteo-phytes on PIP "Bouchard nodes" - DIP "Heberden Nodes"
117
Systolic ejection murmur | - crescendo-decrescendo
Aortic Stenosis
118
``` Telangiectasias Recurrent epistaxis Skin discoloration Arterio-venous malformations GI bleeding Hematuria ```
Osler Weber Rendu syndrome
119
Thyroid Tumor Pheochromocytoma Parathyroid Tumor
MEN 2A | - Auto dominant RET mutation
120
Thyroid Tumor Pheochromocytoma Ganglio-neuromatosis
MEN 2B | - Auto dominant RET mutation
121
Toe extension/fanning upon plantar scrape
Babinski sign | - UMN lesion
122
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy Note: UMN lesions SPARE the forehead
123
Urethritis Conjunctivitis Arthritis Male
Reactive arthritis - Associated with HLA-B27
124
Vascular birthmark (port wine stain) of the face
Nevus Flammeus - Benign but associated with Sturge-Weber syndrome
125
Vomiting blood following gastro-esophageal lacerations
Mallory Weiss syndrome - Alcoholic and bulimic patients
126
``` Weight loss Diarrhea Arthritis Fever Adenopathy ```
Whipple disease - Tropheryma whipplei
127
"Worst headache of my life"
Sub-arachnoid hemorrhage