Classic Presentations Flashcards
(114 cards)
1
Q
abdominal pain, ascites, hepatomegaly
A
Budd-Chiarie syndrome (posthepatic venous thrombosis)
2
Q
achilles tendon xanthoma
A
Familial hypercholestrolemia (decrease LDL receptor signaling)
3
Q
adrenal hemorrhage, hypotension, DIC
A
Wathehous-Friderichsen syndrome (meningococcemia)
4
Q
Anterior “drawer sign” postive
A
ACL injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperfexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Back pain, fever, night sweats, wt loss
A
Pott disease (vertebral TB)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
Blue Sclera
A
Osteogenesis imperfecta (type I collagen defect)
9
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (incrfease osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic reurgitation
12
Q
Butterfly facial rash and Raynaud phenomenon in a young female
A
SLE
13
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
14
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious uberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
16
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occulusion
17
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable: with minimal exertion)
18
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
20
Q
Child with fever later develops red rash on face that spreads to body
A
Slapped cheeks (erythema infectionsum/fifth disease: parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (automsomal dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
internuclear opthalmoplegia (damage to MLF;bilateral [multiple sclerosis], unilateral [stroke])
25
Continuous "machine-like" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
27
Dark purple skin/mouth nodules in apatient with AIDS
Kaposi sarcoma, associated with HHV-8
28
Deep, labored breathing/hyperventilation
Kussmaul respiration (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
32
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs, glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progess to esophageal squamous cell carcinoma)
34
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
35
Enlarged, Hard left supraclavicular node
Virchow node (abdominal metastasis)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
37
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
38
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
39
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
40
Fibrous plaques in soft tissue of penis
Peyronie disease (connect tissue disorder)
41
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
42
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
43
Green-yellow rings around peripheral cornea
Kayser-fleischer rings (copper accumulation from Wilson disease)
44
Hamartomatous GI polyp, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; Increase cancer risk, mainly GI)
45
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
46
Hereditary nephritis, sensorinerual hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
47
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
48
Hyperreflexia, hypertonia, Babinksi sign present
UMN damage
49
Hyporefexia, hypotonia, atrophy, fasciculation
LMN damage
50
Hypoxemia, polycythemia, hypercapnia
Blue bloater chronic bronchitis: hyperplasia of mucous cells)
51
Indurated, ulcerated genital lesion
Nonpainful:chancer (1 syphilis, Treponema pallidum) Painful, with exudate: chancroid (H. ducreyi)
52
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (tri 13)
53
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick Disease (genetic sphingomyelinase deficiency)
54
infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Girerke disease (glucose-6-phosphatase deficiency, more severe)
55
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
56
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
57
Large rash with bull's eye apperance
Erythema chronicum migrans fromIxodes tick bite (Lyme disease: Borrelia
58
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
59
Male child, recurrent infections, no mature B cells
Bruton disease (x-linked agammaglobulinemia)
60
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in plateletaggregation due to lack of GpIIb/IIIa)
61
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
62
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
63
Myopathy (infantile hypertrophic cardiomyopathy), exerciseintolerance
Pompe disease (lysosomal a-1,4,-glucosidase deficiency)
64
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiters tip)
65
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
66
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
67
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
68
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
69
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
70
Painful raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
71
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
72
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
73
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
74
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
75
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
76
Pink complexion, dyspnea, hyperventilation
Pink puffers (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])
77
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorptin defect)
78
pruritic, purple, polygonal planar papules and plaques 6 P's)
Lichen planus
79
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
80
Pupil accommodates but doesnt react
Argyll Robertson pupil (neurosyphilis)
81
Rapidly progressive leg weakness that ascends folowing GI/Upper respiratory infections
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy
82
RAsh on palms and soles
Coxsackie A, 2 syphilis, Rockey mountain spotted fever
83
Recurrent colds, unusual exzema, high serum IgE
HyperIgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
84
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
85
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
86
Red currant jelly stools
Acute mesenteric ischemia (adults) intussusception (infants)
87
Red, itchy, swollen rash on nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
88
Red urine in the morning, Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
89
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
90
Resting tremors, rigiity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
91
Retinal heorrhages with pale centers
Roth spots (bacterial endocarditis)
92
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
93
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
94
Severe RLQ pain with rebound tendernes
McBurney sign (acute appendicitis)
95
Short stature, increase incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML
96
Single palmar Crease
Down Syndrome
97
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
98
Skin hyperpigmentation, hypotension, fatigue
Addison disease (1 adrenocortical insufficiency causes increae ACTH and increase a-MSH production)
99
Slow, pregressive muscle weakness in boys
Becker muscular dystrophy (x-linked missense mutation in dystrophin; less severe than Duchenne)
100
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
101
Splinter hemorrhages in fingernails
Bacterial endocarditis
102
Strwwberry tongue
Scarlet fever, kawasaki disease, toxic shock syndrome
103
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature,, webbed lymphedema
Turner Syndrome (45, XO)
104
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vit C deficiency: cant hydroxylate proline/lysine for collagen synthesis
105
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
106
Thyroid and parthyroid tumors, pheochromocytoma
MEN 2A (AD ret mutation)
107
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD ret mutation)
108
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
109
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
110
Urethritis, conjuctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
111
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
112
Vomiting blood following gastroesophageal laceration
Mallory-Weiss syndrome (alcoholic and bulimic patients)
113
Wt loss, diarrhea, arthritis, fever, adeonpathy
Whipple disease (Tropheryma whipplei)
114
Worst headache of my life
Subarachnoid hemorrhage
