Classic Presentations Flashcards
1
Q
Abd pain, ascites, hepatomegaly
A
disease/diagnosis: Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
abd pain, diarrhea, leukocytosis, recent antibiotic use
A
Clostridium difficile infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL receptor signaling)
4
Q
adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Anterior “drawer sign” +
A
Anterior cruciate ligament injury
7
Q
Arachnodactyly, lens dislocations, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
8
Q
Athlete with polycythemia
A
secondary to erythropoietin injection
9
Q
back pain, fever, night sweats
A
Pott disease (vertebral TB)
10
Q
bilateral acoustic schwannomas
A
neurofibromatosis type 2
11
Q
bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
12
Q
Black eschar on face of patient with diabetic ketoacidosis
A
Mucor or Rhizopus fungal infetion
13
Q
Blue sclera
A
osteogenesis imperfecta (type I collagen defect)
14
Q
bluish line on gingiva
A
burton line (lead poisoning)
15
Q
bone pain, bone enlargement, arthritis
A
Paget disease of bone (increase osteoblastic and osteoclastic activity)
16
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
“Butterfly” facial rash and raynaud phenomenon in young female
A
Systemic Lupus erthematosus
18
Q
cafe-au-lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
Neurofibromatosis type I, pheochromocytoma, optic gliomas
19
Q
cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
20
Q
calf pseudohypertrophy
A
muscular dystrophy (most commonly duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
A
Kawasaki disease (treat with IVIG and aspirin)
22
Q
“Cherry-red spots” on macula
A
Tay-sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion or rest)
24
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 wees after acute episode)
25
Chest pain with ST depression on EKG
Unstable angina (troponins neg) 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/fifth disease: parvovirus B19)
28
chorea, dementia, caudate degeneration
huntington disease (autosomal dominant CAG repeast expansion)
29
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance with myalgia, fatigue, painful cramps myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
cold intolerance
hypothyroidism
32
conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF, may be unilateral or bilateral)
33
Continuous "machine-like heart murmur"
PDA (close with indomethacin, open or maintain with PGE analogs)
34
cutaneous/dermal edema due to connective tissue deposition
myxedema (caused by hypothyroidism, graves (pretibial))
35
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)
36
Dark purple skin/mouth nodules in a patient with AIDS
kaposi sarcoma, associated with HHV-8
37
deep labored breathing/hyperventilation
Kussmaul respirations (DKA)
38
dermatitis, dementia, diarrhea
Pellagra (niacin [vit b3] deficiency)
39
dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vit B1] deficiency)
40
dog or cat bite resulting in infection
pasteurella multocida (cellulitis at inoculation site)
41
dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine 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, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III colalgen defect seen in vascular subtype of ED)
44
enlarged, hard left supraclavivular node
Virchow node (abdominal metastasis)
45
episodic vertigo, tinnitus, hearing loss
meniere disease
46
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fundoides + malignant T cells in blood)
47
facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
48
fat, female, forty, and fertile
cholelithiasis (gallstones)
49
fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarish-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
50
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
51
fever, night sweats, weight loss
B symptoms (stage) 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 rings (copper accumulation from wilson disease)
54
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly GI)
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crisis
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Hyperreflexia, hypertonia, babinski sign present
UMN damage
60
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
61
Hypoxemia, polycythemia, hypercapnia
"Blue Bloater" (chronic bronchitis: hyperplasia of mucous cells)
62
indurated, ulcerated genital lesion
nonpainful: chancre (Primary syphilis, treponema pallidum)
| Painful, with exudate: chancroid (haemophilus ducreyi)
63
infant with "cherry-red" spot on macular, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
64
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
65
Infant with hypoglycemia, 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, and 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 (lime disease: Borrelia)
69
lucid interval after traumatic brain injury
Epidural Hematoma (middle meningeal artery rupture)
70
Male child, recurrent infections, no mature B cells
Bruton disease (x-linked agammaglobulinemia)
71
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
72
muffled heart sounds, distended neck veins, hypotension
beck triad of cardiac tamponade
73
multiple colon polyps, osteomas/soft tissue tumors, impacted supernumerary teeth
Gardner 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 injury: "waiter's tip")
76
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
77
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
78
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma Pneumoniae, infectious mononucleosis, CLL)
79
Painful fingers/toes changing color from blue to white to red with cold stress
Raynaud phenomenon (vasospasm in extremities)
80
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
81
Painless erythematous lesions on palm and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
82
Painless jaundice
Cancer of pancreatic head obstructing bile duct
83
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
84
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
85
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
86
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar {smoking}, panacinar [alph1-antitrypsin deficiency])
87
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
88
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
89
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
90
Pupil accommodates but doesnt react
Argyll Robertson pupil (neurosyphilis)
91
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
92
Rash on palms and soles
Coxsackie A, Secondary syphilis, Rocky mountain spotted fever
93
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
94
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
95
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (children)
96
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
97
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
98
Renal cell carcinoma (bilateral), hemanioblastomas, angiomatosis, pheochromocytoma
von Hipppel-Lindau disease (dominant tumor suppressor gene mutation)
99
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
100
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
101
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
102
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
103
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
104
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)
105
Single palmar crease
Down syndrome
106
Situs inversus, chronis sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
107
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (e.g. addison disease) causes: increased ACTH and increased alpha-MSH production
108
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (x-linked missense 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
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (secondary syphilis)
111
splinter hemorrhages in fingernails
bacterial endocarditis
112
"Strawberry tongue"
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 to joint, tophi
Gout/podagra (hyperuricemia)
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
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [heberden nodes])
117
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
118
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
119
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
120
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal 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; UMN lesions spare the forehead
123
Urethritis, conjunctivitis, arthritis in a 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 gastroesophageal 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"
subarachnoid hemorrhage
