Rapid Review - Clinical Presentations Flashcards
(118 cards)
1
Q
Abd pain, ascites, hepatomegaly
A
Budd Chiari syndrome (post-hepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (dec LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichson syndrome (meningococcemia)
4
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan’s syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
2* to EPO injection
6
Q
Back pain, fever, night sweats, weight loss
A
Pott’s disease (vertebral TB)
7
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (non-caseating granulomas)
8
Q
Blue sclera
A
OI (type I collagen defect)
9
Q
Bluish line on gingiva
A
Burton’s line (lead poisoning)
10
Q
Bone pain, bone enlargement, arthritis
A
Paget’s disease of bone (inc osteoblastic and osteoclastic activity)
11
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic Regurgitation
12
Q
“Butterfly” facial rash, and Raynad’s phenomenon in a young female
A
SLE
13
Q
Café-au-lait spots, Lisch nodules (iris hamartomas)
A
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
14
Q
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright sydrome (mosaic G-protein signaling mutation)
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene
16
Q
“Cherry-red spot” on maclya
A
Tay-Sachs (ganglioside accumulation), Niemann-Pick (sphingomyelin accumulation), or central retinal artery occulsion
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’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
19
Q
Child uses arms to stand up from squat
A
Gower’s sign (DMD)
20
Q
Child with fever later develops red rash onf ace that spreads to body
A
“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
21
Q
Chorea, dementia, caudate degeneration
A
HD (autosomal-dominant CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle’s disease (muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy, horizontal diplopia
A
Internuclear ophthalmoplegia (damage to MLF; bilateral (MS), unilateral stroke))
25
Continuous "machinery" 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
Kaposi's sarcoma (usually AIDS patients [MSM]: a/w HHV-8)
28
Deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
29
Dermatitis, dementia, diarrhea
Pellagra (niacin [vit. B3] deficiency)
30
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
Wet beriberi (thiamine [vitamin B3] deficiency)
31
Dog or cat bite resulting in infection
Pasturella multocida (cellulitis at inoculation site)
32
Dry eyes, dry mouth, arthritis
Sjorgren's syndrome (autoimmune destruction of exocrine glands)
33
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal SCC)
34
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (Type III collagen defect)
35
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
36
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
37
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
38
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
39
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarish-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
40
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
41
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie's disease (connective tissue disorder)
43
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan sydrome (HGPRT deficiency, X-linked recessive)
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's dx)
45
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign, polyposis can cause bowel obstruction; inc CA risk, mainly GI)
46
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
47
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
48
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
49
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
50
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
51
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
52
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Teponema pallidum); Painful, with exudate: chancroid (Haemophilus ducreyi)
53
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau's syndrome (trisomy 13)
54
Infant w/ failure to thrive, HSM, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
55
Infant with hypoglycemia, failure to thrive and hepatomegaly
Cori's disease (debranching enzyme deficiency)
56
Infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
57
Jaundice, palpable distended non-tender gallbladder
Courvoisier's sign (distal obstruction of biliary tree)
58
Lrge rash w/ bulls-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
59
Lucid interval after traumatic brain injury
Epidural hematoma (MMA rupture)
60
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
61
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
62
Muffled heart sounds, distended neck veins, hypotension
Beck's triad of cardiac tamponade
63
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
64
Myopathy (infantile HCM), exercise intolerance
Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)
65
Neonate w/ arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiter's tip)
66
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
67
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
68
Oscillating slow/fast breathing (repeating cycles of apnea and hypercapnia then compensatory hyperventilation
Cheyne-Stokes respirations (central apnea in CHF or inc intracranial pressure) Due to dec sensitivity of medullary respiratory center)
69
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia cuased by mycoplasma pneumoniae, infectious mononucleosis)
70
Painful, pale, cold fingers/toes
Raynaud's phenomenon (vasospasm in extremities)
71
Painful, raised, lesions on pad of fingers/toes
Osler's nodes (infective endocarditis, septic emboli/microabscesses)
72
Painless jaundice
CA of pancreatic head of obstructing bile duct
73
Palpable purpura on buttocks/legs, joint pain, abd pain (child) hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
74
Pancreatic, pituitary, parathyroid tumors
MEN I (autosomal dominant)
75
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
76
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [alpha-antitrypsin deficiency])
77
Poyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophophatemic rickets
Fanconi's syndrome (proximal tubular reabsorption defect)
78
Positive anterior drawer sign
ACL injury
79
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
80
Ptosis, misosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
81
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
82
Rapidly progressive leg weakness that ascends following GI/URI
Guillain-Barre syndrome (acute autoimmune inglammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie A, 2* syphilis, Rocky Mountain spotted fever
84
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job's 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's disease of the breast (represents underlying neoplasm)
88
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria (PNH)
89
RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
90
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal DA depletion)
91
Retinal hemorrhages w/ pale centers
Roth's spots (bacterial endocarditis)
92
Severe jaundice in neonate
Crigler-Najjar syndrome (congential unconjugated hyperbilirubinemia)
93
Severe RLQ pain w/ palpation of LLQ
Rovsing's sign (acute appendicitis)
94
Severe RLQ pain w/ rebound tenderness
McBurney's sign (appendicitis)
95
Short stature, inc incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
96
Single palmar crease
Simian crease (Down sxr)
97
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein arm defect affecting cilia)
98
Skin hyperpigmentation, hypotension, fatgiue
Addison's disease (primary adrenocortical insufficiency causes inc ACTH and inc alpha-MSH production)
99
Slow, progressive mm weakness in boys
Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
100
Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
Koplik spots (measles - rubeola virus)
101
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2* syphilis)
102
Splinter hemorrhages in fingernails
Bacterial endocarditis
103
"Strawberry tongue"
Kawasaki dx, Scarlet fever, Toxic shock syndrome
104
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45 XO)
105
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyper-uricemia)
106
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurby (vitamin C deficiency; can't hydroxylate proline/lysine for collagen synthesis)
107
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
108
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
109
Medullary thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
110
Medullary thyroid, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
111
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
112
Unilateral facial drooping inolving forehead
Facial nerve (LMN CN VII palsy)
113
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
114
Vascular birthmark (prot-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's disease (Tropheryma whipplei)
117
"Worst headache of my life"
Subarachnoid hemorrhage
118
High-output heart-failure and neurological symptoms
Wet Beriberi (Thiamine deficiency)
