Classic Presentations Flashcards

(126 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

C. dificile infection

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3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased 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

ACL injury

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7
Q

Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints

A

Marfan Syndrome (fibrillin defect)

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8
Q

Back pain
Fever
Night Sweats

A

Pott disease (vertebral TB)

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9
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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10
Q

Bilateral hilar adenopathy
Uveitis
Non-caseating granulomas

A

Sarcoidosis

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11
Q

Black eschar on face of patient with diabetic ketoacidosis

A

Mucor or Rhizopus fungal infection

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12
Q

Blue sclera

A

Osteogenesis imperfecta (type I collage defect)

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13
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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14
Q

Bone pain
Bone enlargement
Arthritis

A

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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15
Q

Bounding pulses
Diastolic heart murmur
Head bobbing

A

Aortic regurgitation

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16
Q

“Butterfly” facial rash
Raynaud phenomenon
Young female

A

Systemic lupus erythematosus

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17
Q
Café-Au-Lait spots
Lisch nodules (iris hamartoma)
Cutaneous neurofibromas
Pheochromocytomas
Optic gliomas
A

Neurofibromatosis type I, pheocromocytoma, optic gliomas

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18
Q

Café-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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19
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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20
Q

Cervical lymphadenopathy
Desqaumating rash
Coronary aneurysms
Red conjunctivae and tongue

A

Kawasaki disease (treat with IVIG and aspirin)

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21
Q

“Cherry-red spots” on macula

A

Tay-Sachs (ganglioside accumulation) or Riemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

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22
Q

Chest pain on exertion

A

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

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23
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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24
Q

Chest pain with ST depressions on EKG

A

Unstable angina (troponins negative) or NSTEMI (troponins postivie)

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25
Child uses arms to stand up from sqaut
Gowers sign (Duchenne muscular dystrophy)
26
Child with fever later develops red rash on face that spreads to body
"Slapped cheeks" (erythema infectiousum/fifth disease: parvovirus B19)
27
Chorea Dementia Caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
28
Chorioretinitis Hydrocephalus Intracranial calcifications
Congenital toxoplasmosis
29
``` Chronic exercise intolerance Myalgia Fatigue Painful cramps Myoglobinuria ```
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
30
Cold intolerance
Hypothyroidism
31
Conjugate horizontal gaze palsy | Horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)
32
Continous "machine-like" heart murmur
PDA (close with indomethacin, open with PGE analogs)
33
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
34
Cutaneous flushing Diarrhea Bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)
35
Dark purple skin or mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
36
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
37
Dermatitis Dementia Diarrhea
Pellagra (Niacin [B3}) deficiency)
38
Dilated cardiomyopathy Edema Alcoholism Malnutrition
Wet beriberi (thiamine vitamin [B1] deficiency)
39
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
40
Dry eyes Dry mouth Arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
41
Dysphagia (esophageal webs) Glossitis Iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
42
Elastic skin Hypermobility of joints Increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
43
Enlarged, hard left supraclavicular node
Virchow node
44
Episodic vertigo Tinnitus Hearing loss
Meniere disease
45
Erythroderma Lymphadenopathy Hepatosplenomegaly Atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
46
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
47
Fat Female Forty Fertile
Cholelithiasis (gallstones)
48
``` Fever Chills Headache Myalgia Following anti-biotic treatment for syphilis ```
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
49
``` Fever Cough Conjunctivitis Coryza Diffuse rash ```
Measles
50
Fever Night sweats weight loss
B symptoms (staging) of lymphoma
51
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
52
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
53
Gout Intellectual disability Self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
54
Hamartomatous polyps | Hyper pigmentation of mouth/hands/feet/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increased cancer risk, mainly GI)
55
``` Hepatosplenomegaly Pancytopenia Osteopenia Aseptic necrosis of femur Bone crises ```
Gaucher disease (glucocerebrosidase deficiency)
56
Hereditary nephritis Sensorineural hearing loss Cataracts
Alport Syndrome (mutation in type IV collagen)
57
Hyperphagia Hypersexuality Hyperorality Hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
58
Hyperreflexia Hypertonia Babinski sign present
UMN damage
59
Hyporeflexia Hypotonia Atrophy Fasciculations
LMN damage
60
Hypoxemia Polycythemia Hypercapnia
Chronic Bronchitis ("Blue Bloater": hyperplasia of mucous cells)
61
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphiliis, Treponema pallidum) | Painful with exudate: chancroid (Haemophilus decreyi)
62
Infant with "cherry-red" spot on macula Hepatosplenomegaly Neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
63
Infant with clef lip/palate Microcephaly or holoprosencephaly Polydactyly Cutis aplasia
Patau syndrome (trisomy 13)
64
Infant with hypoglycemia and hepatomegaly
Cori disease (debranching enzyme deficiency or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
65
Infant with microcephaly Rocker bottom feet Clenched hands Structural heart defect
Edwards syndrome (trisomy 18)
66
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
67
Large rash with bull's eye appearance
Erythema chronic migrans from Ixodes tick bite (Lyme disease: Borrelia burgdorferi)
68
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
69
Male child Recurrent infections No mature B cells
Bruton disease (X-linked agammaglobinemia)
70
Mucosal bleeding and prolonged bleeding time
Glanzmann thromasthenia (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 intolerance
Pope disease (lysosomal alpha-1,4-glucosidase deficiency)
74
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
75
No lactation postpartum Absent menstruation Cold intolerance
Sheehan syndrome (pituitary infarction)
76
Nystagmus Intention tremor Scanning speech Bilateral internuclear opthalmoplegia
Multiple sclerosis
77
Painful blue fingers/toes | Hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis, CLL)
78
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
Painful, raised, red lesions on pads of fingers and toes
Osler nodes (infective endocarditis, immune complex deposition)
80
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
82
Palpable purpura on buttocks/legs Joint pain Abdominal pain (child) Hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
83
Pancreatic, pituitary, parathyroid tumors
MEN I (autosomal dominant)
84
Periorbital and/or peripheral edema Proteinuria Hypoalbuminemia Hypercholesterolemia
Nephrotic syndrome
85
Pink complexion Dyspnea Hyperventilation
Emphsema ("pink puffer": centroacinar [smoking] or panacean [alpha-1-antitrypsin deficiency])
86
``` Polyuria Renal tubular acidosis type II Growth failure Electrolyte imbalances Hypophosphatemic rickets ```
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
87
Pruritic, purple polygonal planar papules and plaques
Lichen planus
88
Ptosis, miosis, anhydrosis
Horner syndrome
89
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
90
Rapidly progressive limb weakness that ascends following GI or upper respiratory tract infection
Guilllan-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
92
Recurrent cold (non inflamed) abscesses Unusual eczema High serum IgE
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
93
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
94
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (children)
95
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
96
Red urine in the morning, fragile RBC
Paroxysmal nocturnal hemoglobinuria
97
Renal cell carcinoma (bilateral) Hemangioblastomas Angiomatosis Pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
98
``` Resting tremor Rigitidy Akinesia Postural instability Shuffling gait ```
Parkinson disease (loss of dopaminergic neurons in the substantial nigra pars compacta)
99
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
100
Sever jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
101
Severe RLQ pain with palpation of LLQ
Roving sign (acute appendicitis)
102
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
103
``` 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)
104
Single palmar crease
Down syndrome
105
Situs inversus chronic sinusitis Bronchiectasis Infertility
Kartagener syndrome (dyne arm defect affecting cilia)
106
Skin hyper pigmentation hypotension Fatigue
Primary adrenocortical insufficiency (Addison disease) causes increased ACTH and alpha-MSH production
107
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dysrophin, less severe than Duchenne)
108
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
109
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (secondary syphilis)
110
Splinter hemorrhages in fingernails
Bacterial endocarditis
111
Strawberry tongue
Scarlet fever, Kawasaki disease
112
``` Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth Short stature Webbed neck Lymphedema ```
Turner syndrome (45XO)
113
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
114
Swollen gums Mucosal bleeding Poor wound healing Petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
115
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
116
Systolic ejection murmur (crescendo decrescendo)
Aortic stenosis
117
``` Telangiectasias Recurrent epistaxis Skin discoloration Arteriovenous malformations GI bleeding Hematuria ```
Osler-Weber-Rendu syndrome
118
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
119
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
120
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
121
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
122
Urethritis Conjunctivitis Arthritis Male
Reactive arthritis associated with HLA- B-27
123
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
124
Vomiting blood following gastroesophageal lacerations
Mallord-Weiss syndrome (alcoholic and bulimic patients)
125
``` Weight loss Diarrhea Arthritis Fever Adenopathy ```
Whipple disease (Tropheryma whipplei)
126
"Worst headache of my life"
Subarachnoid hemorrhage"