Rapid review diagnosis disease Flashcards
1
Q
Abdominal pain ascites, hepatosplenomegaly
A
Budd-chiari syndrome (posthepatic venous thrombosis)
2
Q
Abdominal pain, diarrhea, leukocytes, recent antibiotic use
A
C Diff infection
3
Q
Achilles tendon xanthoma
A
Familial hypercholeterolemia (decreased LDL receptor signaling)
4
Q
adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
anaphylaxis following blood transfuision
A
IgA deficiency
6
Q
anterior drawer
A
ACL
7
Q
Arachnodactyly, lens dislocatio, aortic dissection, hyperflexible joints
A
marfan syndrome (fibrillin defect)
8
Q
athlete with polycythemia
A
secondary to erythropoeitin injection
9
Q
back pain, fever, night sweats
A
pott disease (vertebral TB)
10
Q
Bilateral acoustic schannomas
A
Nuerofibromatosis Type II
11
Q
bilateral hilar adenopathy, night sweats
A
sarcoidosis (noncaseating granulomas)
12
Q
black eschar on face of patient with dka
A
mucor or rhiszopus fungal infection
13
Q
blue sclera
A
osteogenesis imperfecta (type i collagen defect)
14
Q
bluish line of gingiva
A
burton line (lead poisoning)
15
Q
bone pain, bone enlargement, arthritis
A
paget disease of bone (increase in osteoblastic and osteoclastic activity)
16
Q
bounding pulses, diastolic heart murmur, head bobbing
A
aortic regurgitation
17
Q
butterfly face rash and raynaud phenomenon in young female
A
lupus
18
Q
cafe au lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
A
NF type I, pheochromocytoma, optic gliomas
19
Q
cafe au lait spots (unilateral(, polyostotic fibrous dysplaisa, precocious puberty, multiple endocrine abnormalities
A
mccune albright syndrome (mosaic g protein signaling mutation)
20
Q
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
A
Kawasakis disease (treat with IVIG and aspirin)
21
Q
Cherry red spots on macula
A
Tay sachs disease (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) central retinal artery occulsion
22
Q
how to distinguish Neimann pick from tay sachs
A
hepatosplenogmegaly in Niemann pick
23
Q
chest pain, pericardial effusion, peristent fever, following MI
A
Dressler syndrome (autoimmune mediated post MI fibrinous pericarditis) 2-12 weeks after acute episode
24
Q
chest pain with ST depression on EKG
A
Untable angina if negative troponin
NSTEMI if positive
25
Child with fever later develops rash on face that spreads to rest of body
Slapped cheeks (erythema infectiosum/fifth disease - parvovirus 19)
26
Chorea, dementia, caudate degeneration
Huntingtons disease (AD CAG repeat expansion)
27
Chorioretinitis, hydrocephalus, intracranial calcification
congenital toxoplasmosis
28
Chronic exercise intolerance with myalgia, fatigue, and painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
29
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
30
Continuous machine like heart murmur
PDA (close with indomethacin ; open or maintain with PGE analogs)
31
cutaneous / dermal edema due to connective tissue deposition
myxedema (caused by hypothyroidism / graves disease / pretibial)
32
cutaneous flushing, diarrhea, bronchosapsm
carcinoid sydrome (right sided cardiac valvular lesions, increase in 5-HIAA)
33
Dark purple skin and mouth nodules in patient with aids
kaposis sarcoma (associated with HHV8)
34
Deep, labored breathing, hyperventiliation
Kussmaul respiration (dka)
35
dermatitis, dementia, diarrhea
Pellagra (niacin b3 deficiency)
36
dilated cardiomyopathy, edema alcoholism or malnurition
wet beri beri (thiamine b1 deficiency)
37
dog or cate bite resulting in infection
pastuerella multocida (cellulitis at inoculation site)
38
dry eyes, dry mouth, arthritis
Sjogren syndrome (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, hypermobility of joints, increased bleeding tendency
ehlers danlos syndrome (type v collagen defect, type iii collagen defect seen in vascular subtype of ED)
41
enlarged hard left supraclavicular node
virchow node (abdominal mets)
42
episodic vertigo, tinnitus, hearing loss
meniere disease
43
erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungoides (cutaneous T cell lymphma) or Sezary sundrome (mycosis fungoides + malignant T cells in bloods)
44
facial muscle spasm upon tapping
chvostek sign (hypocalcemia)
45
fever, chills, headache, myalgia, following ab treatment for syphillis
Jarisch Herxheimer reaction (rapid lysis of spriochetes results in endotoxin release) its going to be okay
46
fever, cough, conjunctivitis, coryza, diffuse rash
measles
47
fever, night sweats, weight loss
b signs (staging) of lymphoma
48
fibrous plaques in soft tissue penis with abnormal curvature
peyronie disease (connective tissue disorder)
49
golden brown rigns around peripheral cornea
keyser fleischer rings (copper accumulation from wilsons)
50
gout, intellectual disability, self-mutilating in boy
Lesch Nyhan syndrome (HGPRT deficient; X linked recessive)
51
hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands, and genitals
Peutz Jeghers syndrome (inherited, benign, polyposis can cause bowel obstruction; increased risk of cancer mainly GI)
52
hepatosplenomegaly / pancytopenia / osteoporosis / aspcetic necrosis of femur / bone crises
Gaucher (glucocerebrosidase deficiency)
53
hererditary nephritis, sensorineural hearing loss, cataracts
alport syndrome (mutation in collagen IV)
54
hyperphagia, hypersexualtiy, hyperorality, hyperdocility
kluver bucy syndrome (bilateral amygdala lesion)
55
hyperdocility
lots of lack of fear
56
hyperreflexia, hypertonia, babinski sign,
UMN damage
57
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
58
hypoxemia, polycythemia, hypercapnia
blue bloater (chronic bronchitis, hyperplasia of mucous cells)
59
indurated, ulcerated, genital lesion
nonpainful: chancre (primary syphillis - Treponema pallidum) ; painful, with exudate: chancroid (haemophilus ducreyi)
60
infant with cherry red spot on macula / hepatosplenomegaly / and neurodegeneration
Niemann Pick disease (genetic sphingomyelin deficiency) - in contrast to Tay Sachs which is a ganglioside accumulation and does not have HSM
61
infant with cleft lip/palate, microcephalic, or holoprosoncephaly, polydactyly, cutis aplasia
patau syndrome (trisomy 13)
62
infant with hypoglycemia, hepatosplenomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase defciency, and more severe)
63
infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defects
Trisomy 18 (Edwards syndrome)
64
jaundice, palpable, distended, non-tender gall bladder
Courvoisier sign (distal obstruction of the biliary tree)
65
large rash with bullseye appearance
Lyme disease - Erythema chronicum migrans from Ixodes tick bite (Borrelia)
66
lucid interval after traumatic brain injury
epidural hematoma - middle meningeal artery rupture
67
male child, recurrent infections, no mature b cells
Bruton disease (X linked agamma)
68
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIa/IIIb)
69
muffle heart sounds, distended neck veins, hypotension
Beck triad of cardia temponade
70
multiple colon polyps, osteomas/soft tissue tumors, impacted or supernumary teetch
gardner syndrome (subtype of FAP)
71
Myopathy (infantile hypertrophic cardiomyopathy) exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
72
Neonate with arm parlaysis follwoing difficult birth
Erb Duchenned palsy (superior trunk c5-c6) brachial plexus injury "waiters tip)
73
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome - pituatary infarction
74
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
75
Painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)
76
Painful fingers/toes changing color from blue to white to red with cold or stress
raynaud phenom (vasospasm of extremities)
77
painful raised red lesion on pads of fingers or toes
osler nodes (infective endocardidits / immune complex deposition)
78
painless erythematous lesion on palms and soles
janeway lesions (infective endocarditis, septic emboli/microabscesses)
79
painless jaundice
cancer of the pancreatic head obstructing the bile duct
80
palpable purpura on buttocks/legs, joint pain, abdominal pain (child) hematuria
Henoch-Schonlein purpura (iga vasculitis affecting the skin and kidneys)
81
pancreatic, pituitary, parathyroid tumors
men 1 (autosomal dominant)
82
periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
83
pink complexion, dyspnea, hyperventilation
pink puffer syndrome (emphysema, centriacinar (smoking) panacinar (alpha1at))
84
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalance, hypophosphatemic rickets
fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
85
pruritic, purple, polygonal planar papules and plaques (6ps)
lichen planus - mistaken me
86
ptosis, miosis, anhidrosis
horner syndrome (sympathetic chain lesion)
87
pupil accomodates but doesnt react
Argyll Robinson pupil (neurosyphillis)
88
rapidly progressive limb weakness that ascends following GI /upper respiratory infection
Guillain barre syndrome (acute inflammatory demyelinating polyradiculopathy)
89
rash on palms and soles
Coxsackie A, secondary syphillis, rocky mountain spotted fever
90
recurrent cold (noninflamed) abcesses, unusual exzema, high serum IgE
Hyper IgE syndrome (Jobs syndrome: neutrophil chemotaxis anomaly)
91
red "current jelly" sputum in alcoholic or diabetic
Klebsiella pneumoniae pneumonia
92
red "currant jelly" stools
Acute mesenteric ischemia (adults) intussusception (children)
93
Red, itchy, swollen rash of nipple/areola
paget disease of the breast (sign of underlying neoplasm)
94
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
95
renal cell carcinoma (bilateral) hemangioblastoma, angiomatosis, pheochromacytosis
von Hippel Lindae disease (dominant tumor suppressor gene mutation)
96
resting tremor, rigidity, akinesia, postural instabilty, shuffling gait
parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
97
retinal hemorrhages with pale centers
roth spots (bacterial endocarditis)
98
severe jaundice in neonate
crigler najjar syndrome (congenital unconjugated hyperbilirubinemia)
99
severe RLQ with palpation of LLQ
Rovsing sign (acute appendicits)
100
severe RLQ pain with rebound tenderness
McBurney sign (acute appe)
101
short stature, cafe au lait spots, thumb and radial defects, increased incidence of tumors leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair) often will progress to AML
102
situs invertus, chronic sinusitis, bronchiectasis, infertility
kartaganer syndrome (dynein arm defect affecting cilia)
103
skin hyperpigmentation, hypotension, fatigue
primary adrenocortical insufficiency (Addison disease) causes increase in act and increase in alpha MSH production
104
slow, progressive muscle weakness in boys
becker muscular dystrophy (x linked missense mutation in dystrophin, less severe than Duchenne)
105
small irregular red spots of buccal/lingual mucosa with blue-white centers
koplik spots (measles, rubeola virus)
106
smooth, moist, painless, wart-like white lesions on genitals
condylomata lata (secondary syphillis)
107
splinter hemorrhages in fingernails
bacterial endocarditis
108
strawberry tongue
scarlet fever, kawasakis
109
streak ovaries, congenital hear disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphadema
tuner syndrome (45xo)
110
sudden swollen painful big toe joint, tophi
gout / podagra (hyperuricemia)
111
swollen gums, mucosal bleeding, poor wound healing, patechia
vitamin c deficiency - cant hydroxylate proline/lysine for collagen synthesis
112
swollen hard painful finger joints
osteoarthritis - osteophytes on PIP (bouchard nodes), DIP (Heberden nodes)
113
Systolic ejection murmur - crescendo-descrescendo
Aortic stenosis
114
Telangiectasia, recurrent epistaxis, skin discoloration, ateriovenous malformation, GI bleeding, hematuria
Osler-weber-rendu syndrome
115
Thyroid and parathryoid tumors, pheos
MEN-IIA (AD RET)
116
Thyroid tumors / pheos / ganglioneuromatosis / marfanoid habitus
MEN-IIB (AD RET)
117
toe extension / fannign upon plantar scrape
babinski - umn
118
unilateral facial droop involving forehead
lmn facial nerve (cn vii) palsy - umn lesion spare the forehead
119
urethritis, conjucntivitis, arthritis in male
reactive arthritis associated with HLA-B27
120
Vascular birthmark (port wine stain) on the face
nevus flammeus (benign, but associated with Sturge weber syndrome)
121
vomiting blood follow GE lacerations
mallory weiss syndrome (alcoholic and bulimic patients)
122
weight loss, diarrhea, arthritis, fever, adenopathy
whipple disease (Tropheryma whipplei)
123
worst headach
SAH
124
Cysathione beta synthase mutation
Homocysteinuria - AR
125
Cholesterol
Bile acids
Phosphatidylcholine
up vs down with gallstones
up
down
down
