RAPID REVIEW- Classic Presentations Flashcards
(118 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd- Chiari syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (↓ LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse Friedrichsen syndrome (meningococcemia)
4
Q
Anterior “drawer sign” +
A
Anterior cruciate ligament injury
5
Q
Arachnodactyly, lens dislocation, Aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
7
Q
Back pain , fever, night sweats, weight loss
A
Pott disease (vertebral TB)
8
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
9
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
10
Q
Bluish line on gongova
A
Burton line (lead poisoning)
11
Q
Bone pain, bone enlargement, arhtritis
A
Paget disease of bone (↑ osteoblastic and osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bodding
A
Aortic regurgitation
13
Q
“Butterfly” facial rash and Raynaud phenomenon in young female
A
Systemic lupus erythematosus
14
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
15
Q
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune Albright sydndrome (mosaic G protein signaling mutation)
16
Q
Calf pseudohyperthrophy
A
Muscular dystrophy (most commonly Duchenne): X linked recessive deltion of dysthrophin gene
17
Q
“Cherry red spots” on macula
A
Tay Sachs (ganglioside accumulation) or Niemman Pick (spingomyelin accumulation), central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina (stable: with moderate exertion; unstable with minimal exertion)
19
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)
20
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
21
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erythema infectiosium/ fifth disease: Parvovirus B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington disease (autosomal dominant CAG repeat expansion)
23
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency)
24
Q
Cold intolerance
A
Hypothyroidism
25
Conjugate lateral gaze palsy, horizontal diplopia
Intenuclear ophtalmoplegia (damage to MLF, bilateral [multiple sclerosis], unilateral [stroke])
26
Continous "machine like" heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
27
Cutaneous/ dermal edema due to connective tissue depostion
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
28
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
29
Deep, labored breathing/ hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
30
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
31
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitsmin B1] deficiency)
32
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
33
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
34
Dysphagia (esophageal webes), glossitis, iron deficiency, anemia
Plummer Vinson syndrome (may progress to esophageal squamous cell carcinoma)
35
Elastic skin, hypermobility of joints
Ehlers- Danlos syndrome (type III collagen defect)
36
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
37
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
38
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
39
Fat, female, forty and fertile
Cholelithiasis (gallstones)
40
Fevers, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
41
Fever, cough, conjunctivits, coryza, diffuse rash
Measles
42
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
43
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
44
Gout, intellectual disability, self mutilating behavior in a boy
Lesh Nyhan syndrome (HGPRT deficiency, X linked recessive)
45
Green yellow rings around peripheral cornea
Kayser Fleischer rings (cooper accumulation from Wilson disease)
46
Hamartomatous GI polyps, hyperpigmentation of mouth/ feet/ hands
Peutz Jeghers syndrome (inherited, benign polyposis can cause bowel ↑ cancer risk, mainly GI)
47
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidease deficiency)
48
Hereditary nephritis, sensorineural hearing loss, catarcts
Alport syndrome (mutation in collagen IV)
49
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver Bucy syndrome (bilateral amygdala lesion)
50
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
51
Hyporreflexia, hypotonia, atrophy, fasciculation
LMN damage
52
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis; hyperplasia of mucous cells)
53
Indurated, ulcerated genital lesion
Non painful: chancre (1 syphilis, Treponema pallidum)
| Painful with exudate: chancroid (Haemophilus ducreyi)
54
Infant with cleft lip/palate, microcephaly of holorposencephaly, poludactylu, cutis aplasia
Patau syndrome (trisomy 13)
55
Infant with failure to thrive, hepatosplenomegaly and neurodegeneration
Niemman Pick disease (genetic sphingomyelinase deficiency)
56
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme defiency)
57
Infant with microcephaly, rocket bottonm feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
58
Jaundice, palpable distended non tender gallblader
Courvoisier sign (distal obstruction of biliary tree)
59
Large rash with bull's eye apperance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
60
Lucid interval after traumatic brain injury
Epidural hematomma (middle meningeal artery rupture)
61
Male child, recurrent infections, no mature B cells
Bruton diease (X linked agammaglobulinemia)
62
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
63
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
Multiple colon polyps, osteomas/ soft tissue tumors, impacted/ supernumerary teeth
Gardner syndrome (subtype of FAP)
65
Myopathy (infantile hyperthrophic cardiomyopathy), excercise intolerance
Pompe disease (lysosomal α 1,4 glucosidease deficiency)
66
Neonate with arm paralysis following difficult birth
Erb Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "Waiter's tip")
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
68
Nystagmus, intention tremor, scaning speech, bilateral internuclear ophtalmoplegia
Multiple Sclerosis
69
Oscillating slow/fast breathing
Cheyene Stokes respirations (central apnea in CHF or ↑ intracranial pressure)
70
Painful blue fingers/ toes, hemolytic anemia
Cold agglutinatinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
71
Painful, pale, cold fingers/ toes
Raynaud phenomenom (vasospasm in extremities)
72
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
73
Painles erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
74
Painles jaundice
Cancer of the pancreatic head obstructing bile duct
75
Palpable purpura on buttocks/ leg, joint pain,abdominal pain (child), hematuria
Henoch Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathytoid tumors
MEN 1 (autosomal dominant)
77
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
78
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [α1 antitrypsin deficiency])
79
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
80
Pruritic, purple, polygonal planar papules and plaques (6 P's)
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
82
Pupil accomodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascends following GI/ upper respiratory infection
Guillian Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
84
Rush in palms and soles
Coxsackie A, 2º syphyllis, Rocky Mountain spotted fever
85
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
86
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
87
Ref "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
88
Red, itchy, swollen rash of nipple/ areola
Paget disease of the breast (sign of underlying neoplasm)
89
Red irine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carcinoma (bilateral), hemangioblastoma, angiomatosism pheocromocytoma
von Hippel Lindau disease (dominant tumor suppressor gene mutation)
91
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostrial dopamine depletion)
92
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
95
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
96
Short stature, ↑ incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
97
Single palmar crease
Down syndrome
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotention, fatigue
Addison disease (1º adrenocortical insufficiency causes ↑ ACTH and ↑ α MSH production)
100
Slow, progressive muscle weakness in boys
Becker muscular dysthrophy (X linked missense mutation in dystrophin; less severe than Duchenne)
101
Small, irregular red spots in bucal/ lingual mucosa with blue/white centers
Koplik spots (measles; rubeola virus)
102
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2º syphilis)
103
Splinter hemorrhages in fingernails
Bacterial endocarditis
104
"Strawberry tongue"
Scarlet fever, kawasaki disease, toxic shock syndrome
105
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45 XO)
106
Sudden swollen/ painful big toe joint, tophi
Gout/ podagra (hyperuricemmia)
107
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
108
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
109
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
110
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
112
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
113
Unilateral facial droppung involving forehead)
Facial nerve (LMN CN VII palsy)
114
Urethritis, conjuntivitis, arthritis in a male
Reactive arthritis associated with HLA- B27
115
Vascular BIRTHMARK (PORT WINE STAIN)
Hemangioma (benign, but associated with Sturge Weber syndrome)
116
Vomiting blood following gastroesophageal lacerations
Mallory Weiss syndrome (alcoholic and bulimic patients)
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryme whipplei)
118
"Worst headache of my life"
Subarachnoid hemorrhage
