Classic Presentations FA Flashcards
(126 cards)
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome (posthepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukocytosis, recent abx
A
C. diff. infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (decreased LDL signaling)
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friedrichsen syndrome (meningococcemia usually from Neisseria meningitidis)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Positive anterior drawer sign
A
ACL injury
7
Q
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
A
Marfan syndrome
8
Q
Athlete with polycythemia
A
Exogenous EPO use
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 (non-caseating granulomas)
12
Q
Black eschar on face of patient with DKA
A
Mucor or Rhizopus infection
13
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
14
Q
Bluish line on gingiva
A
Burton line (Pb poisoning)
15
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (increased osteoclastic and osteoblastic activity)
16
Q
Bounding pulses, wide pulse pressure, diastolic murmur, head bobbing
A
Aortic regurgitation
17
Q
Butterfly facial rash, Raynaud phenomenon in young female
A
SLE
18
Q
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
Neurofibromatosis type 1
19
Q
Café-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 (usually Duchenne, X-linked recessive frameshift mutation of dystrophin gene)
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjunctive an tongue, hand and foot changes
A
Kawasaki disease (treat with IVIG and ASA)
22
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal occlusion
23
Q
Chest pain on exertion
A
Angina (stable : with moderate exertion :: unstable : minimal exertion or at rest)
24
Q
Chest pain, pericardial effusion, persistent fever post-MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months post-MI)
25
Chest pain with ST depression on EKG
+ troponins : NSTEMI :: - troponins : unstable angina
26
Child uses arms to stand from a squat
Duchenne muscular dystrophy (Gowers sign)
27
Child with fever later develops red rash on face that spreads to body
Erythema infectosum (fifth disease) "slapped-cheek appearance" caused by parvovirus B19
28
Chorea, dementia, caudate degenration
Huntington disease (autosomal dominant CAG repeat expansion)
29
Chorioretinits, 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, can be unilateral or bilateral)
33
Continuous "machine-like" heart murmur
Patent ductus arteriosus (close with indomethacin, keep open with PGE analogues)
34
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease (pre-tibial))
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right sided valvular lesions and increased 5-HIAA)
36
Dark purple skin/mouth nodules in AIDS patient
Kaposi sarcoma, associated with HHV-8
37
Deep, labored breathing/hyperventilation
DKA (Kussmaul respirations)
38
Dermatitis, dementia, diarrhea
Pellagra (B3 deficiency)
39
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (B1 deficiency)
40
Dog or cat bite resulting in infection
Pasturella multocida (cellulitis at inoculation site)
41
Dry eyes, dry mouth, arthritis
Sjögren syndrome
42
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (risk of squamous cell carcinoma)
43
Elastic skin, hypermobile joints, increased bleeding tendency
Ehler-Danlos syndrome (type V collagen defect, if vascular subtype then type III collagen defect)
44
Enlarged, hard left supraclavicular 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 Sézary syndrome (mycosis fungoides + malignant T-cells in blood)
47
Facial spasm upon tapping
Chvostek sign (hypocalcemia)
48
Fat, female, forty, fertile
Gallstones
49
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
50
Fever, cough, conjunctiva, coryza, diffuse rash
Measles
51
Fever, night sweats, weight loss
B symptoms of lymphoma
52
Fibrous plaques in soft tissue of penis with curvature
Peyronie disease (CT disorder)
53
Golden brown rings around peripheral cornea
Wilson disease (Cu)
54
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (XLR HGPRT deficiency)
55
Hamartomous GI polyps, hyperpigmentation of mouth, feet, hands and genitals
Peutz-Jehgers syndrome (benign polyposis, with risk of bowel obstruction and GI malignancy)
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic nectrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, senorineural hearing loss, cataracts
Alport syndrome (type IV collagen defect)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesions)
59
Hyperreflexia, hypertonia, positive Babinski
UMN lesion
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN lesions
61
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (mucous cell hyperplasia, "blue bloater"
62
Indurated, ulcerated genital lesion
Nonpainful: chancre of 1˚ syphilis
| Painful with exudate: chancroid of H. ducreyi
63
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Trisomy 13 Patau syndrome
64
Infant with hypoglycemia and hepatomegaly
Cori disease (de-branching enzyme deficiency) or Von Gierke disease (G-6-phosphatase deficiency (more severe))
65
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart-defect
Edwards syndrome (trisomy 18)
66
Jaundice, palpable, non-distended gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
67
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease)
68
Lucid interval following TBI
Epidural hematoma (MMA rupture)
69
Male child, recurrent infections, no mature B-cells
Bruton disease (XLR agammaglobulinemia)
70
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (GpIIb/IIIa deficiency leads to poor platelet aggregation)
71
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
72
Multiple colon polyps, osteomas, soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (type of FAP)
73
Myopathy (infantile hypertrophic CM) and exercise intolderance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
74
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk injury (C5-6), waiter's tip)
75
No lactation postpartum, 2˚ amenorrhea, cold intolerance
Sheehan syndrome (pituitary infarct)
76
Nystagmus, intention tremor, scanning speech, bilateral intranuclear ophthalmoplegia
MS
77
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia from Mycoplasma pneumonia, EBV, CLL)
78
Painful fingers/toes changing colors from white to blue to red eith cold or stress
Raynaud phenomenon (vasospasm in extremities)
79
Painful, raised red lesions on pads of fingers and toes
Osler nodes (infective endocarditis, IC deposition)
80
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
81
Painless jaundice
Cancer of pancreatic head obstructing bile duct
82
Palpable purpura on buttock on buttock and legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura in IgA vasculitis (skin and kidneys)
83
Pancreatic, pituitary, parathyroid tumors
MEN1 (autosomal dominant)
84
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
85
Pink complexion, dyspnea, hyperventilation
Emphysema ("pink puffer," centriacinar (smoking) or panacinar (AAT deficiency))
86
Polyuria, RTA T2, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (PCT resorptive failure)
87
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
88
Ptosis, myosis, anhydrosis
Horner syndrome
89
Pupil accomodate, but doesn't react
Neurosyphilis (Argyll-Robertson pupil AKA Whore's eyes)
90
Rapidly progressive limb weakness ascending post GI/resp. infection
Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
91
Rash on palms and soles
Coxsackie A, 2˚ syphilis, RMSF
92
Recurrent cold (non-inflamed) abscess, unusual eczema, high IgE
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis irregularity)
93
Red currant jelly sputum in alcoholic or diabetic patient
Klebsiella pneumonia PNA
94
Red currant jelly stools
Acute mesenteric ischemia (adults), intussusception (kids)
95
Red itchy swollen rash of nipple/areola
Paget disease of breast (sign of underlying neoplasm)
96
Red urine in the morning and fragile RBCs
Paroxysmal nocturnal hemoglobinuria
97
RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (AD tumor suppressor gene mutation)
98
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
99
Retinal hemorrhage with pale centers
Roth sports (bacterial endocarditis)
100
Sever jaundice in neonate
Crigler-Najjar syndrome (increased UCB)
101
Severe RLQ with palpation of LLQ
Rovsing sign (acute appendicitis)
102
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
103
Short stature, café-au-lait spots, thumb/radial defects, increased incidence of leukemia/tumors, aplastic anemia
Fanconi anemia (genetic loss of DNA cross-link repair, often progresses to AML)
104
Single palmar crease
Down syndrome
105
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect)
106
Skin hyperpigmentation, hypotension, fatigue
1˚ adrenocortical insufficiency (eg Addison disease) caused by increased ACTH and alpha-MSH
107
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin)
108
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots from Measles (rubeola) virus
109
Smooth, moist, painless, wart-like white lesions on genitals
Condyloma lata (2˚ syphilis)
110
Splinter hemorrhage in fingernails
Bacterial endocarditis
111
Strawberry tongue
Scarlet fever, Kawasaki disease
112
Streak ovaries, congenital heart disease, horshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
113
Sudden swollen big toe/ tophi
Gout
114
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurcy (Vit. C deficiency; can't hydroxylate proline/lysine for collagen synthesis)
115
Swollen hand, painful finger joints
OA (PIP + DIP)
116
Systolic ejection murmur (crescedo-decrescendo)
Aortic stenosis
117
Telangectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangectasia)
118
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A (AD RET mutation)
119
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, marfanoid habitus
MEN2B (AD RET mutation)
120
Toe extension/fanning on plantar scarpe
Babinski sign (UMN lesion)
121
Unilateral facial droop involving forehead
LMN facial nerve palsy; UMN would spare forehead
122
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
123
Vascular birth mark (port wine) of the face
nevus flammeus (benign, but associated with Sturge-Weber syndrome)
124
Hematemesis following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic or bulemic pts)
125
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
126
"Worst headache of my life"
Subarachnoid hemorrhage
