Rapid Review: Classic Presentations Flashcards
0
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic VT)
2
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
3
Q
Anterior drawer sign
A
Anterior cruciate ligament injury
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
Secondary to epo injection
6
Q
Back pain, fever, night sweats, weight 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 (increased osteoclast and blast activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
12
Q
Butterfly facial rash and Raynaud phenomenon in a young female
A
SLE
13
Q
Café-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
14
Q
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy, e.g., Duchenne (X-linked recessive deletion of dystrophin gene)
16
Q
Cherry-red spots on macula
A
Central retinal artery occlusions from Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation)
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 an 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 from parvovirus B19 (erythema infectiosum, fifth disease)
21
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (autosomal dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgias, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia due damage to MLF (bilateral from MS, unilateral from stroke)
25
Continuous machine-like heart murmur
Patent ductus arteriosus (close with indomethacin, open or maintain with misoprostol)
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (from hypothyroidism, Graves disease)
27
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma (HHV-8)
28
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin (B3) deficiency)
30
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine (B1) deficiency)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
32
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (can progress to esophageal squamous cell carcinoma)
34
Elastic skin, hypermobility of joints
Ehlers-Danos syndrome (type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
36
Erythroderma, LAD, HSM, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sézary syndrome (malignant T cells spread to blood)
37
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
38
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
41
Fever, night sweats, weight loss
B symptoms of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
43
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (Wilson disease)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
46
HSM, osteoperosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
50
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnea
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
53
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
54
Infant with failure to thrive, HSM, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrive, and HSM
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
56
Infant with microcephaly, rocker bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
57
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
58
Large rash with bull's eye appearance
Erythema chronicum migrans (Lyme disease)
59
Lucid interval after TBI
Epidural hematoma (middle meningeal artery rupture)
60
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardener syndrome (subtype of FAP)
64
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
65
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk brachial plexus injury: "waiter's tip")
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia)
MS
68
Oscillating slow/fast breathing
Cheynes-Stokes respirations (central apnea in CHF or increased ICP)
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumo, infectious nucleosis)
70
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
71
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
72
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
73
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
74
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
75
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
76
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
77
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centriacinar from smoking, panacinar from A1AT deficiency)
78
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
79
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
80
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
81
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
82
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
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 of nipple/areola
Paget disease of 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 tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
91
Retinal hemorrhages 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 tenderness
McBurney sign (acute appendicitis)
95
Short stature, increased 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 (primary adrenocortical insufficiency causes increased ACTH and increased α-MSH production)
99
Slow, progressive 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
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
102
Splinter hemorrhages in fingernails
Bacterial endocarditis
103
Strawberry tongue
Scarlet fever, Kawasaki disease, TSS
104
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45XO)
105
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
106
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
107
Swollen, hard, painful finger joints
OA (osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes))
108
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
109
Thyroid and parthyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
110
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
111
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
112
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII) palsy
113
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
114
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
115
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
116
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
117
"Worst headache of my life"
Subarachnoid hemorrhage
