Classic Presentations Flashcards
(126 cards)
1
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium difficile infection
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDLr signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrom (meningococcemia)
4
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
5
Q
Anterior “drawer sign” positive
A
ACL injury
6
Q
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
7
Q
Athlete with polycythemia
A
Secondary to EPO injection
8
Q
Back pain, fever, night sweats
A
Pott syndrome (vertebral TB)
9
Q
Bilateral acoustic schwannomas
A
Neurofibromatosis type 2
10
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
11
Q
Black eschar on face of pt with DKA
A
Mucor or Rhizopus fungal infection
12
Q
Blue sclera
A
Osteogenesis Imperfecta (type I collagen defect)
13
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
14
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increased osteoblast and osteoclast activation)
15
Q
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
16
Q
“Butterfly” rash on face and raynaud phenomenon in young female
A
SLE
17
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
Neurofibromatosis type 1
18
Q
Cafe-au-lait spots (unilateral), polyostoic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
19
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
20
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
A
Kawasaki disease (treat with IVIG and aspirin)
21
Q
“Cherry red spots” on macula
A
Tay-Sachs (ganglioside accumulation) or Neimann-Pick (sphingomyelin accumulation), central retinal artery occlusion
22
Q
Chest pain on exertion
A
Angina (stable - with moderate exertion; unstable - with minimal exertion or at rest)
23
Q
Chest pain, pericardial friction rub/effusion, persistent fever after MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
24
Q
Chest pain with ST depressions on EKG
A
Unstable angina (negative troponins) or NSTEMI (positive troponins)
25
Child uses arm to stand up from squat
Duchenne muscular dystrophy (Gowers sign)
26
Child with fever develops rash on face that spreads to body
Erythema infectiosum/fifth disease (slapped cheeks appearance, caused by 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 with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
30
Cold intolerance
Hypothyroidism
31
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmologia (damage to MLF; may be unilateral or bilateral
32
Continuous "machine-like" heart murmur
PDA (closed with indomethacin, keep 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/mouth nodules in patients with AIDS
Kaposi sarcoma, associated with HHV-8
36
Deep, labored breathing/hyperventilation
DKA (Kussmaul respirations)
37
Dermatitis, dementia, diarrhea
Pellagra (niacin (VitB3) deficiency)
38
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine (VitB1) deficiency)
39
Dog or cat bites resulting in infection
Pasturella 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)
43
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
44
Episodic vertigo, tinnitus, hearing loss
Meniere disease
45
Erythroderma, lymphadenopathy, hepatosplenomegaly and atypical TCs
Mycosis Fungoides (cutaneous TC lymphoma) or Sezary syndrome (mycosis fungoides + malignant TCs in blood)
46
Facial muscle spasm upon tapping
Hypocalcemia (Chvostek sign)
47
Fat, female, forty, fertile
Cholelithiasis (gallstones)
48
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Mariah-Herxheimer reaction (rapid lysis of spirochetes results in endotoxins 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 (CT disorder)
52
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
53
Gout, intellectual disability, self mutilating behavior in an boy
Lesch-Nyhan syndrome (HGPRT defeciency, X-linked recessive)
54
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increased cancer risk - mainly GI)
55
Hepatosplenomegaly, pancytopenia, osteoporosis, ascetic necrosis of femoral head, bone crisis
Gaucherie disease (glucocerebrosidase deficiency)
56
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
57
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
58
Hyperreflexia, hypertonic, babinski sign present
UMN damage
59
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
60
Hypodermic, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, blue bloaters)
61
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful: with exudate chancroid (haemophilus ducreyi)
62
Infant with cleft lip/palate, microcephalic or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
63
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
64
Infant with microcephalic, rocker-bottom feet, clenched hands and structural heart defect
Edwards syndrome (trisomy 18)
65
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of the biliary tree)
66
Large rash with bull's eye appearance
Lyme disease: Borrelia
| Erythema chronicum migrans from Ixodes tick bite
67
Lucid interval after TBI
Epidural hematoma (middle meningeal artery rupture)
68
Male child, recurrent infections, no mature BCs
Bruton disease (X-linked agammaglobulinemia)
69
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa
70
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
71
Multiple colon polyps, osteomalacia/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
72
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4, glucosidase deficiency)
73
Neonate with arm paralysis following a difficult birth
Erb-Duchenne palsy (superior trunk (C5-C6) branchial plexus injury - "waiter's tip")
74
No location postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
75
Nystagmus, intention tremor, scanning speech, bilateral inter nuclear ophthalmoplegia
Multiple Sclerosis
76
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
77
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
78
Painful, raised red lesions on pads and fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
79
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
80
Painless jaundice
Cancer of pancreatic head obstructing bile duct
81
Palpable purport on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
82
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant mutation in MEN1/menin gene)
83
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
84
Pink complexion, dyspnea, hyperventilation
Emphysema (pink puffer, centriacinar - smoking; panacinar - alpha-1 antitrypsin deficiency)
85
Polyuria, renal tubular acidosis type II, growth failure, electrolyte embalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of proximal convoluted tubule)
86
Pruruitic, purple, polygonal, planar papules and plaques
Lichen planus
87
Ptosis, mitosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
88
Pupil accommodates but does not react
Neurosyphilis (Argyll Robertson pupil)
89
Rapidly progressive limb weakness that ascends following GI/URI
Guillan-Barre syndrome (acute inflammatory demyelination polyardiculopathy subtype)
90
Rash on palms and soles
Coxsackievirus A, secondary syphilis, RMSF
91
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper IgE syndrome (Job syndrome0: neutrophil chemotaxis abnormality)
92
Red currant jelly sputum in alcoholic or diabetic pts
Klebsiella pneumoniae pneumonia
93
Red currant jelly stools
acute mesenteric ischemia (adults), intussusception (children)
94
Red, itchy, swollen rash of nipple/areola
Pages disease of breast (sign of underlying neoplasm)
95
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
96
bilateral RCC, hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel-Lindau disease (Dominant TS gene mutation)
97
Resting tremor, rigidity, a kinesics, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
98
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
99
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
100
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
101
Severe RLQ pain with deep tenderness
McBurney 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, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
105
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (eg Addison disease) causes increased ACTH, and 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 spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles/rubeola virus)
108
Smooth, moist, painless, wart-like lesions on genitals
Condylomata lata (secondary syphilis)
109
Splinter hemorrhages in fingernails
Bacterial endocarditis
110
Strawberry tongue
Scarlet fever, Kawasaki disease
111
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
112
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
113
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitC deficiency - cannot hydroxylate proline/lysine for collagen synthesis.
114
Swollen, hard painful finger joints
Osteoarthritis (osteophytes on PIP - Bouchard nodes; DIP - Heberden nodes)
115
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
116
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
117
thyroid and parathyroid tumors, pheochromocytoma
MEN2A (AD RET mutations
118
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B (AD RET mutation)
119
Toe extension/fan in upon plantar scrape
Babinski sign (UMN lesion)
120
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy,
| UMN lesion spares forehead
121
Urethritis, conjunctivitis, and arthritis
Reactivate arthritis associated with HLA-B27
122
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign but associated with Sturge-Weber syndrome)
123
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic pts)
124
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
125
Worst HA of my life
Subarachanoid hemorrhage
126
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
