Rapid Review - Clinical Presentation Flashcards
1
Q
Abdominal pain, ascites and hepatomegaly
A
Budd Chiari syndrome (posthepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukocytosis, recent abx
A
C diff
3
Q
Achilles Tendon Xanthoma
A
Familial hypercholesterolemia (dec LDL receptor signaling)
4
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friedrichsen Syndrome (meningiococcemia)
5
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
A
Marfan (auto dom fibrillin defect)
7
Q
Athlete w/ polycythemia
A
Secondary to EPO injections
8
Q
Back pain, fever, night sweats
A
Pott’s disease of Tb (vertebral)
9
Q
Bilateral Acoustic Schwannoma
A
NF2 (chromosome 22)
10
Q
Bilateral hilar lymphadenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
11
Q
Black eschar on face in pt w/ DKA
A
Mucor or Rhizopus fungal infection
12
Q
Blue sclera
A
Osteogenesis Imperfecta (auto dom type I collagen defect - BITE)
13
Q
Bluish line on gingiva
A
Burton line
Lead poisoning
14
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone (inc osteoclasts then compensatory inc in osteoblasts)
15
Q
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
aortic regurgitation
16
Q
Butterfly facial rash and Raynaud in young female
A
SLE
17
Q
Cafe au lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheo, optic gliomas
A
NF1 (chromosome 17)
18
Q
Cafe au lait spots (unilateral), polyostotic fibrous dysplasia of bone, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright (mosaic G protein signaling mutation)
19
Q
Calf pseudohypertrophy
A
Muscular dystrophy
Duchenne = X-linked recessive frameshift or nonsense mutation leading to truncated or absent dystrophin gene
20
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
A
Kawasaki disease (treat w/ IVIG and aspirin)
21
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation) -NO hepatosplenomegaly
Niemann-Pick (sphingomyelin accumulation) - hepatosplenomegaly
Central retinal artery occlusion
22
Q
Chest pain, pericardial effusion, friction rub, persistent fever following MI
A
Dressler’s Syndrome (autoimmune mediated post MI fibrinoid pericarditis - 2 wks to several months after acute episode)
23
Q
Child uses arm to stand from squatting position
A
Duchenne MD (Gowers sign)
24
Q
Child w/ fever later develops red rash on face that spreads to body
A
Erythema infectiosum / fifth disease (“slapped cheeks” appearance)
Caused by parvovirus B19
25
Chorea, dementia, caudate degeneration
Huntington's (chromosome 5 - auto dom CAG expansion)
26
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
27
Chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
28
Cold intolerance
Hypothyroid
29
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF - highly myelinated so associated w/ MS)
Unilateral or bilateral
MLF in dorsal pons
30
Continuous machine-like murmur
PDA
Close w/ indomethacin
Keep open w/ PGE analogs
31
Cutaneous dermal edema due to connective tissue deposition
Myxedema associated w/ hypothyroidism and Graves
Graves = pre-tibial
32
Cutaneous flushing, bronchospasm, diarrhea
Carcinoid syndrome
R sided cardiac valve disease, inc in 5-HIAA
Often in GI but only cause symptoms if metastasize to liver or beyond because otherwise liver metabolizes 5-HIAA
33
Dark purple skin and mouth nodules in patients w/ AIDS
Kaposi sarcoma - HHV8
Filled w/ lymphocytes
34
Deep labored breathing and hyperventilation
Kussmaul respirations
Seen in DKA (trying to comp for acidosis)
35
Dermatitis, dementia, diarrhea
Pellagra - niacin deficiency (vit B3)
36
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beri beri (vit B1 / thiamine deficiency)
37
Dog or cat bite resulting in infection
Pastruella multocida (cellulitis at inoculation site)
38
Dry eyes, dry mouth, arthritis
Sjogrens (autoimmune destruction of exocrine glands)
39
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
40
Elastic skin, inc joint mobility, inc bleeding tendency
Ehlers-Danlos (type V or type III collagen - auto dom or recessive)
41
Enlarged, hard L supraclavicular node
Virchow node (means abdominal met)
42
Episodic vertigo, tinnitus, hearing loss
Meniere disease
43
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma)
OR Sezary syndrome (mycosis fungoides + malignant T cells in blood)
44
Facial muscle spasm upon tapping
Chvostek sign (HYPOcalcemia)
45
Fat, female, forty, fertile
Cholesterol gallstones
46
Fever, chills, headache, myalgia following abx for syphilis
Jarish-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
47
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles prodrome
48
Fever, night sweats, wt loss
B symptoms in lymphoma
49
Fibrous plaques in soft tissue of penis w/ abnormal curvature
Peyronic disease (connective tissue disorder)
50
Golden brown rings around peripheral cornea
Wilson Disease (Kayser-Fleischer rings from copper accumulation)
51
Gout, intellectual disability, self-mutilating behavior in a oy
HGPRT deficiency of Lesch-Nyhan syndrome (X-linked recessive)
52
Hamartomous GI polyps, hyperpigmentation of mouth, feet, hands, genitalia
Peutz-Jeghers syndrome (inherited benign polyposis that can cause bowel obstruction)
Inc risk GI cancer
53
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebroside deficiency)
54
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV of basement membranes)
55
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy Syndrome (bilateral amygdala lesion)
56
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis w/ hyperplasia of mucosal cells - "blue bloater"
57
Indurated, ulcerated genital lesions (non-painful v painful)
Non-painful - chancre of primary syphilis b/c knock out nerves
Painful - w/ exudate is chancroid of H. ducreyi
58
Infant w/ cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
**all midline problems
59
Infant w/ hypoglycemia and hepatomegaly
Cori disease (debranching enzyme deficiency)
OR Gierke disease (glucose-6-phosphatase deficiency - more severe)
60
Infant w/ microcephaly, rocker-bottom feet, clenched hands, structural heart defects
Edward's syndrome (trisomy 18)
61
Jaundice, palpable distended and non-tender gallbladder
Courvoisier sign - distal malignant obstruction of biliary tree
62
Bull's eye rash
Erythema chronicum migrans from Ixodes tick in Lyme
63
Lucid interval after traumatic brain injury
Epidural hematoma (ARTERY - middle meningeal)
64
Male child w/ recurrent infections and no mature B cells
Bruton disease (X-linked agammaglobinemia)
65
Mucousal bleeding and prolonged bleeding
Glanzmann thromboasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
66
Muffled heart sounds, hypotension, distended neck veins
Beck's Triad for cardiac tamponade
67
Mult colon polyps, osteomas/soft tissue tumors, impacted or supernumerary teeth
Gardner syndrome (subtype of FAP)
68
Myopathy (infantile hypertrophic cardiomyopathy) and exercise intolerance
Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)
69
Neonate w/ arm paralysis following difficult birth
Erb palsy (C5-C6 upper trunk plexus injury --> waiter's tip)
70
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
71
Nystagmus, intention tremor, scanning speech, bilateral intranuclear opthalmoplegia
MS
72
Painful blue fingers and toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma, mononucleosis or CLL)
73
Painful fingers/toes changing from white to blue to red w/ cold or stress
Raynaud (vasospasm in extremities)
Treat w/ Ca channel blockers
74
Painful red, raised lesions on pads of palms and soles
Osler nodes - infective endocarditis / immune complex deposition
75
PainLESS erythematous lesions on palms and soles
Janeway lesions (infective endocarditis --> septic emboli, microabscesses
76
Painless jaundice
cancer of pancreatic head obstructing bile duct
77
Palpable purpura on butt and legs, joint pain, ab pain if child, hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
78
Pancreatic, pituitary, parathyroid tumors
MEN1 - menin protein
Auto dom
Chromosome 11
79
Periorbital and/or peripheral edema, proteinuria (>3.5 g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome in general
80
Pink complexion, dyspnea, hyperventilation
COPD
Centriacinar = smoking
Panacinar = alpha 1 antitrypsin def
81
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalance, hypophosphatemic Ricketts
Fanconi syndrome (proximal tubule dysfunction)
82
Pruritic, purple, polygonal, planar papules
Lichen planus
83
Ptosis, myosis, anhidrosis
Horner's (symp chain lesion)
84
Pupil accommodates but does not react
Neurosyphillis (Argyll Robertson pupil)
"prostitute's pupil"
85
Rapidly progressive limb weakness that ascends following GI or upper respiratory infection
Guillan-Barre (acute inflammatory demyelinating polyradiculopathy)
86
Rash on palms and soles
Coxsackie A (hand, foot, mouth)
Secondary syphilis
Rocky Mt Spotted Fever (hands touch rock climb wall)
87
Recurrent cold, abscesses, unusual eczema, high IgE
Hyper-IgE syndrome (Job syndrome - neutrophil chemotaxis abnormality)
88
Red currant jelly sputum in alcoholic or diabetic
Klebsiella penumonia
89
Red currant jelly stools
Acute mesenteric ischemia in adults
Intussusception in kids
90
Red, itchy, swollen rash of nipples/areola
Paget disease of breast (sign of underlying neoplasm)
91
Red urine in morning, fragile RBCs
Paroxysmal nocturnal hemoglobinemia (CD55- or DAF- so do not protect RBCs from complement - worse at night b/c slight acidosis)
92
Bilateral RCC, hemangioblastomas, angiomatosis, pheo
vHL (dominant tumor suppressor gene mutation on chromosome 3)
3 letters in vHL and RCC
93
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson's (loss of dopaminergic neurons in substantia nigra pars compacta)
94
Retinal hemorrhages w/ pale centers
Roth spots from bacterial endocarditis
95
Severe jaundice in neonate
Criggler-Najar (UDP enzyme mutation)
96
Severe RLQ pain w/ palpation of LLQ
Rovsing sign - acute appendicitis
97
Severe RLQ pain w/ deep tenderness
McBurnery sign - acute appendicitis
98
Short stature, cafe-au-lait spots, thumb/radial defects, inc incidence of tumors / leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair, often progresses to AML)
99
Single palmar crease
DS
100
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome
Infertility due to lack of sperm cilia
101
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical deficiency (ex - Addisons)
inc ACTH means also inc alpha -MSH
102
Slow, progressive muscle weakness in boys
Becker MD (X-linked missense mutation in dystrophin so less severe than Duchennes)
103
Small irregular red spots on buccal/lingual mucosa ww/ blue-white centers
Koplik spots of measles virus
104
Smooth, moist, painless lesions, wart-like white lesions on genitals
Condylomata lata of secondary syphilis
105
Splinter hemorrhage on fingernails
Bacterial endocarditis
106
Strawberry tongue
Scarlet fever (strep pyogenes)
Kawasaki
107
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner Syndrome (45, XO)
108
Sudden swollen / painful big toe joint, typhii
Gout/podagra (hyperuricemia)
109
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (Vit C def so cannot hydroxylate proline or lysine in collagen synthesis)
110
Swollen, hard, painful finger joints
OA - osteophytes
PIPs = Bouchard nodes
DIPs = HeberDen nodes
111
Telangiectasias, recurrent epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia)
112
Medullary thyroid tumor, parathyroid tumors, pheo
MEN2A (auto dom RET mutation chromosome 10)
113
Medullary thyroid, pheo, ganglioneuromatosis
MEN2B (auto dom RET mutation - chromosome 10)
114
Unilateral facial droop involving forehead
LMN facial nerve lesion (upper spares forehead)
115
Urethritis, conjunctivitis, arthritis
Reactive arthritis associated w/ HLA-B27
116
Vascular birthmark (port wine stain) on face
Nevus flammeus (benign but associated w/ Sturge - Weber syndrome)
117
Vomiting blood following GI laceration
Mallory-Weiss syndrome (alcoholics or bullimics - inc abdominal pressure from frequency vomiting)
118
Wt loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
