Rapid Review Common Diagnosis Findings Flashcards
1
Q
gout, intellectual disability, self-mutilation in boy
A
Lesch-Nyhan syndrome (HGPRT deficiency), X-linked
2
Q
situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility
A
Kallman syndrome, dynenin arm defect of the cilia
3
Q
blue sclera
A
osteogenesis imperfecta 1 (collagen 1 deficit)
4
Q
elastic skin, hypermobility, increased bleeding tendency
A
Ehlers-Danlos (type 5 collagen defect, type 3 collagen defect seen in vascular ED)
5
Q
arachnodactyly, pectus deformity, lens dislocation downward)
A
Homocystinuria (AR inheritance)
6
Q
u/l cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, MEN abnormalities
A
McCune-Albright syndrome (Gs protein activating mutation)
7
Q
meconium ileus in neonate, recurrent pulm infections, nasal polyps, pancreatic insuffiency, infertility/subfertility
A
CF (CFTR gene defect, ch7, Ph508 deletion)
8
Q
calf pseudodystrophy
A
Muscular Dystrophy (most commonly Duchenne, X-linked R, frameshift mutation in dystrophin gene)
9
Q
child who uses arms to get up from squat
A
Duchenne muscular dystrophy (Gowers sign)
10
Q
infant w/ cleft lip/palate, microcephaly/holoprosencphaly, polydactyl, cutis aplasia
A
Patau syndrome (tri 13)
11
Q
infant w/ microcephaly, rocker-bottom feet, clenched hands, structural heart defect
A
Edwards Syndrome (tri 18)
12
Q
single palmer crease
A
Downs Syndrome (tri 21)
13
Q
confusion, opthalmoplegia/nystagmus, ataxia
A
Wernicke Encephalopathy
14
Q
dilated cardiomyopathy/HOHF, edema, alcholism or malnutrition
A
Wet beriberi (thaiamine B1 def)
15
Q
burning feet syndrome
A
Vit B5 def
16
Q
dermatitis, dementia, diarrhea
A
pellagra (niacin, Vit B3 def)
17
Q
swollen gums, mucosal bleeding, poor wound healing, petechiae
A
scurvy (Vit C def, can’t hydroxylate proline/lysine for collagen synthesis); tea & toast diet
18
Q
bowlegs in children, bone pain, muscle weakness
A
rickets (kids), osteomalacia (adults), vit D deficiency
19
Q
hemorrhagic disease of newborn w/ inc PT, inc PTT
A
vit K def
20
Q
black-bluish CT, ear cartilage, sclerae; urine turns black on prolonged exposure to air
A
alkptonuria (homogentisate oxidase def; orchronosis)
21
Q
chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (skeletal muscle glycogen phophorylase def)
22
Q
infant w/ hypoglycemia, heptaomegaly
A
Cori disease (debranching enzyme def)
Von Gierke (G6PD, more severe)
23
Q
myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance
A
Pompe disease (lysosomal a1-4 glucosidase def)
24
Q
cherry red spots in macula
A
Tay-Sachs (ganglioside acculumalation)
Nieman Pick (sphingomyelin acccumulation)
central retinal artery occulsion
25
hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crisis
Gaucher disease (glucocerebrosidase B-glucosidase def)
26
achielles tendon xanthoma
familial hypercholesterolemia (dec LDL receptor signaling)
27
recurrent neisseria infection
terminal complement def (C5-C9)
28
anaphylaxis following blood transfusions
IgA def
29
male child, no mature B cells, recurrent infections
Bruton dis (X-linked agammaglobulinemia)
30
recurrent cold, noninflammed abcesses, ezcema, high serum IgE, inc eosinophils
hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
31
late separation (>30days) of umbilical cord, no pus, recurrent skin & mucosal bacterial infections
leukocyte adhesion def (type 1, def LFA-1 integrin)
32
recurrent infections & granulomas w/ catalase+ organisms
chronic granulomatous disease (defect NADPH oxidase)
33
fever, vomitting, diarrhea, desquating rash f/u use of nasal pack/tampon
staph toxic shock syndrome
34
strawberry tongue
scarlet fever
kawaski disease
35
colon cancer diagnosed a few yrs after endocarditis
strept bovis
36
abd pain, dirrhea, leukcocytosis, recent antibiotics
C diff infection
37
flaccid paryalsis of newborn s/p honey
C botulinum infection (floppy baby syndrome)
38
tonsillar pseudomembrane w/ bull's neck appearance
C diphtheria infection
39
back pain, fever, night sweats
pott disease (vertrbral TB)
40
adrenal insufficency, fever, DIC
waterhouse-friderischsen syndrome (meningococcemia)
41
red "currant jelly" sputum in pts w/ alcohol overuse or diabetes
Klebesiella pneumoniae
42
large rash w/ bull's eye appearance
erythema mirgrans from ixodes tick bite (lyme disease borrelia)
43
ulcered lesion on genitals, nonpainful, indurated
chancre (1 syphillis)
44
ulcerated lesion on genitals, painful w/ exudate
chancroid (hae ducreyi)
45
pupil accommodates but no react to light
neurosyphillis (argyll robertson pupil)
46
smooth, moist, painless wart-like white lesion on genitals
condyloma lata (2 syphillis)
47
fever, chills, headache, myalgia f/u antibiotic tx for sphyllis
jarisch-herxheimer reaction (due to host response to sudden release of bacterial antigens)
48
slow, progressive weakness in boys
Becker musclar dystrophy (Xlinked non-frameshift, deletions in dystrophin, less severe)
49
dog/cat bite w/ resulting infection (cellulitis, osteomyeliis)
pasteruella multicida (cellulits at incoluation site)
50
atypical pneumo w/ xray looking worse than pt
mycoplasma pneumoniae infection
51
rash on palms/soles
coxsackie A, 2 sphyillis, rocky moutain spotted fever
52
black eschar on face w/ patient w/ DKA and/or neutropenia
mucor/rhizopus fungal infection
53
chorioreinitis, hydrocephalus, intracranial calicifactions
congenital toxo
54
pruitis, serpingious rash after walking barefoot
hookworm (ancylostoma, necator americanus)
55
child w/ fever that develops red rash on face then spreads to body
parvo B19, erythema infectiousosm
56
fever, cough, conjunctivitis, coryza, diffuse rash
measles
57
small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
koplik spots (measles=rubeola virus)
paramxymovirus (ssRNA linear, enveloped)
58
bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
aortic regurgitation
59
systolic EJECTION murmur (C-D), narrow pulse pressure, pulsus parvus et tardus
aortic stenosis
60
continuous machine like murmur
PDA (close w/ indomethacin; open w/ PGE)
61
chest pain on exertion
angina
stable> w/ moderate exertion
unstable> w/ minimal exertion/rest
62
chest pain w/ ST depressions on ECG
angina> neg troponins
NSTEMI> pos troponins
63
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2wk-months after acute episode)
64
distant heart sounds, distended neck veins, hypotension
beck triad of cardiac tamponade
65
painful, red lesions on pads of fingers/toes
oslers nodes (infective endocarditis, immune complex deposition)
66
painless, red lesion on palms/soles
janeway lesions (infective endocarditis, septic emboli/microabcesses)
67
splinter hemorrhages in fingernails
bacterial endocarditis
68
retinal hemorrhages w/ pale centers
roth spots (bacterial endocarditis)
69
telengectiasa, recurrent nosebleds, skin discolorations, AV malformations, GI bleeding, hematuria
hereditary hemorrhagic telangiectasias (Osler-Weber-Rendu syndrome)
70
polyuria (water diuresis), polydipsia
primary polydypsia, DI (central, nephrogenic)
71
no lactation postpartum, absent menstraion, cold intolerance
sheehan syndrome (PPH leading to pit infarct)
72
heat intolerance, weight loss, palpitations
hyperthyroidism
73
cold intolerance, weight gain, brittle hair
hypothyroidism
74
cutaneous/dermal edema due to deposition of mucopolysaccharides in CT
myxedema (via hypothyroidism, Graves disease (pretibial))
75
facial muscle tapping>spasm
Chovstek sign (hypocalcemia)
76
carpal spasm upon inflation of BP cuff
Trousseau sign (hypocalcemia)
77
deep, labored breathing/hyperventilation
DKA (Kussmaul respirations)
78
skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances
Addison's disease (primary adrenal insuff)
inc ACTH, inc alpha-MSH
79
shock, AMS, vomitting, abd pain, weakness, fatigue,
acute adrenal insuff (adrenal crisis)
80
pancreatic, pituitary, parathyroid tumors
MEN1 (AD MEN1 mutation)
81
thyroid tumors, pheochromo, ganglioneuromatosis, Marfanoid habitus
MEN 2B (AD RET mutation)
82
thyroid + parathyroid tumors, pheochromo
MEN 2A (AD RET mutation)
83
cutaneous flushing, dirrhea, bronchospasm, heart murmur
carcinoid syndrome (inc 5-hydroxyindole acetic acid)
84
jaundice, palpable distended non-tender GB
Courvoisier sign (distal malignant obstruction of biliary tree)
85
vomitting blood 2/2 GE lacerations
mallory-weiss syndrome (alcohol use disorder, bulemia)
86
dysphagia (esophageal webs), glossitis, iron def anemia
plummer-vinson syndrome (may progress to esophageal SQUAMOUS cell carcinoma0
87
enlarged, hard L supraclavicular node
virchow node (abd metastsis)
88
hematemesis, melana
upper GI bleed (ie PUD)
89
hematochezia
lower GI bleed (ie colonic diverticulosis)
90
athralgias, adeopathy, cardiac & neurological symtoms, dirrhea
Whipple's disease (tropheryma whippeli), PAS+
91
severe RLQ pain w/ palpation of LLQ
rovsing sign (acute appenditicits)
92
secere RLQ pain w/ deep tenderness
McBurney point (acute appendicitis)
93
harmatomous GI polyps, hyperpigmented macules on mouth, feet, hands, genitals
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; inc cancer risk, mainly GI)
94
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumary teeth
gardner syndrome (subtype FAP)
95
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
96
golden brown rings around peripheral cornea
Wilson disease (K-F rings due to copper accum)
97
female, fat, forty, fertile
gallstones
98
painless jaundice w/ enlarged GB
cancer of pancreatic head obstructing bile duct
99
blue line on gums
lead poisoning (Burton line)
100
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 progress to AML)
101
red/pink urine in AM, fragile RBCs
paryoxsomal noctural hemoglobinuria
102
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumo, infectious mono, CLL)
103
petechiae, mucosal bleeding, prolonged bleeding time
platelet disorders (Glanzmann thrombobasthemia, Bernard Soulier, HUS, TTP, ITP)
104
fever, night sweats, weight loss
B symptoms of malignancy
105
skin patches/plaques, Pautier microabsecces, atypical T cells
mycosis fungoides (cutaneous T cell lymphoma)
or Sezery syndrome (mycosis fungoides + malignant T cells in blood)
106
neonate w/ arm paralysis f/u difficult birth, arm in "waiter's tip" position
Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury)
107
bone pain, bone enlargement, arthritis
osteitis deformans (Paget dis of bone, inc osteoblastic and osteoclastic activity)
108
swollen, hard, painful finger joints in elderly, pain worse w/ activity
OA (osteophytes on PIP "Bouchard", DIP "Heberden")
109
sudden swollen painful big toe joint, thypi
gout/podagra (hyperuricemia)
needle shaped monourate sodium crystals, neg birefring
110
dry eyes, dry mouth, arthritis
sjogren syndrome ( autoimmune destriction of exocrine glands)
111
urethritis, conjunctivitis, arthritis in male
reactive arthritis w/ HLA B27
112
cervical lymphadenopathy, desquam rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
kawasaki disease (mucocutaneous lymph node syndrome, treat w/ IVIG + aspirin)
113
palpable purpura on butt/legs, joint pain, abd pain (child), hematuria
immunoglobulin A vasculitis (Henoch-schonlein purpura, affects skins + kidneys)
114
dark purple skin/mouth nodules in AIDS+
kaposi sarcoma HHV8
115
pruritic, purple, polygonal planar papules & plaques
lichen planus
sawtooth inflitrate of lymphcytes at dermal-epidermal junction. associated HepC
116
ataxia, nystagmus, vertigo, dysarthria,
cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial & proximal movement)
117
hyperphagia, hypersex, hyperoral
Kluver-Bucy (b/l amygdala lesion)
118
lucid interval s/p TBI
epidural hematoma (MMA rupture, branch of maxillary artery off external carotid)
119
worst headache of life
subarachnoid hemorrhage
120
dysphagia, horseness, no gag reflex, nystagmus, i/l horner syndrome
lateral medullary syndrome (PICA lesion)
121
resting tremor, ridigidty, akinesia, postural instability, shuffling gait, micrographia
parkinson disease (loss of dopaminergic neurons in SN pars compacta)
122
chorera, dementia, caudate degeneration
huntington disease (AD CAG repeat expansion)
123
urinary incontine, gait apraxia, cognitive dysfxn
normal pressure hydrocephalus
124
nystagmus, intention tremor, scanning speech, b/l internuclear opthalmoplegia
MS
125
rapidly progressive limb weakness that ascends 2/2 GI/URI
guillan-barre (ascending flaccid paralysis, demyelinating)
126
cafe-au-lait spots, lisch nodules of iris, cutaneous neurofibromas, pheochromo, optic gliomas
NF 1, ch17
127
port wine stain on face
nevus flammeus (benign, assoc w/ Sturge-Weber syndrome)
128
RCC b/l, hemiangiblastoma, angiomatosis, pheochrmo
VHL (deletion of VHL 3p)
129
b/l vestibular schwannomas
NF2, chr 22, merlin
130
hyperreflexia, hypertonia, Babinski, spastic parylasis
UMN
131
hypotonia, hyporeflexia, fasciculations, atrophy,
LMN
132
flaccid limb weakness, fasciculations, atrophy, bulbar palsy
UMN + LMN
133
staggering gait, frequent falls, nystagmus, hammer toes, DM, hypertrophic cardiomyopathy
Fredrick Ataxia (GAA trinucleotide repeat)
134
u/l facial droop spares forehead
UMN lesion or cortex area infarct
135
episodic vertigo, tinnitus, sensorineural hearing loss
Meniere disease
136
ptosis, miosis, anhidrosis,
Horner's syndrome (cervical chain ganglia)
137
conjugate horizontal gaze palsy, horizontal diplopa
internuclear ophthalmopelgia (damage to MLF)
138
waxing/waning level of consciousness (acute onset), dec attention span, dec level of arousal
delirium (2/2 other causes0
139
polyuria, RTA 2, growth retardation, electrolyte changes, hypoPO34- rickets
fanconi syndrome (multiple combined dysfxn of the PCT)
140
perioribital/peripheral edema, proteinuria (3.5+/day), hypoalbuminemia, hypercholesterolemia
nephrotic syndrome:
1. nodular glomerulosclerosis "kimsel-weil" body
2. focal segmental glomerulosclerosis
3. minimal change disease "effacement"
4. membraous nephropathy "spike & dome"
5. amyloidosis
141
hereditary nephritis, sensoirneural hearing loss, retinopathy, lens dislocation
alport syndrome (type 4 collagen mutation)
142
wilms tumor, marcoglossia, organomegaly, hemihyperplasia, omphalocele
Beckwidth-Wiedmann syndrome (WT2 mutation0
143
streak ovaries, congential heart disease, horseshoe kidney, cystic hygroma, short, webbed neck, lyphmedema
turner syndrome (45, XO)
144
red, itchy, swollen rash nipple/areola
Paget disease of breast (underlying carcinoma)
145
ovarian fibroma, ascites, pleural effusion
Megs syndrome
146
fibrous plauqes in tunica albuginea of penis w/ abnormal curvature
peyronie disease (CT disorder)
147
hypoxemia, polycythemia, hypercapnia
chronic bronchitis (hypertrophy and hyperplasis of mucous cells, blue bloater)
148
pink complexion, dyspnea, hyperventilation
emphysema, "pink puffer"
centriacinar> smoker
panaciner> A1A def
149
b/l hilar adenopathy, uveitis
sarcoidosis (noncaseating granulomas)
