USmle eponymous conditions Flashcards
1
Q
abdominal pain, ascites, hepatomegaly
A
Budd-Chiari syndrome -posthepatic venous thrombosis
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
A
C. Diff
3
Q
achiles tendon xanthoma
A
Familial hypercholesterolaemia (decreased LDL)
4
Q
adrenal haem, hypotension, DIC
A
Waterhouse-friderichsen (meningococcemia)
5
Q
anaphylaxis following blood transfusion
A
IgA deficiency
6
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
marfan’s
7
Q
athlete with polycythaemia
A
secondary to EPO injections
8
Q
Back pain, fever, night sweats
A
vetebral TB (Pott’s disease)
9
Q
bilateral acoustic schwannomas
A
neurofibromatosis type 2
10
Q
bilateral hilar adenopathy, uveitis
A
sarcoidosis (non-caseating granulomas)
11
Q
black eschar on face with a hx of diabetic ketoacidosis
A
mucor or rhizopus fungal infection
12
Q
blue sclera
A
osteogenesis imperfecta
13
Q
bluish line on gingiva
A
Burton Line (lead poisoning)
14
Q
bone pain, bone enlargement, arthritis
A
Pagets disease (increased osteoblast and cleast activity)
15
Q
bounding pulse, wide pulse pressure, diastolic murmur, head bobbing
A
aortic regurg
16
Q
butterfly rash and reynauds
A
SLE
17
Q
café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune Albright syndrome (mosaic G preotein signalling mutation)
18
Q
Café-au-lair spots, lisch nodules (iris harmatoma),cutaneous neurofibromas, pheochromocytoma, optic gliomas
A
neurofibromatosis type 1
19
Q
calf pseudohypertrophy
A
muscular dystrophy (commonly Duchenne, due to X linked recessive mutation of dystrophin gene)
20
Q
cherry red spots on macula
A
central retinal artery occlusion (Neimann-Pick or Tay-Sachs)
21
Q
chest pain, pericardial friction rub (effusion), persistent fever following MI
A
Dressler syndrome (autoimmune mediated post MI occuring 2 weeks to several months after)
22
Q
child uses arms to get up from squatting
A
duchenne muscular dystrophy
23
Q
child with red cheeks after a fever (spreads to body)
A
slapped cheeks disease (firth disease - parvovisur B19)
24
Q
chorea, dementia, caudate degeneration
A
huntingdon’s (autosomal dominant CAG repeat expansion)
25
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
26
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease - skeletal muscle glycogen phosphorylase deficiency)
27
cold intolerance
hypothyroidism
28
conjugate gaze palsy, horizontal diplopis, nystagmus
internuclear opthalmoplegia (damage to MLF)
29
continuous machine like murmur
PDA
30
cutaneous/dermal edema due to connective tissue deposition
myxedema (hyperthyroidism, graves disease - pretibial)
31
cutaneous flushing, diarrhoea, bronchospasm
carcinoid syndrome (right sided cardiac valvular lesions)
32
dark purple skin/mouth nodules in pt with AIDS
kaposi sarcome
33
deep, laboured breathing with hyperventilation
Kussmauls resps (ketoacidosis)
34
dermatitis, dementia, diarrhoea
Pellegra (niacin - vit B3 deficiency)
35
dialated cardiomyopathy, oedema, alcoholism, malnutrition
Wet beriberi - thiamine deficiency (B1)
36
infection post dog or cat bite
Pasturella multocida - cellulitis as site
37
dry eyes, dry mouth, arthritis
Sjorgren's - autoimmune destruction of exocrine glands
38
dysphagia (oesophageal webs), glossitis, iron deficiency
Plummer-Vinson syndrome - can progress to oesophageal SCC
39
elastic skin, hypermobility of joints, increased bleeding
Ehlers-Danlos (type V collagen defect, or type III collagen defect in vascular subtype)
40
enlarged, hard, left sided supraclavicular node
Vichow node - gastric malignancy
41
episodic vertigo, tinnitus, hearing loss
meniere disease
42
erythroderma, lymphadenopathy, hepatomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome
43
facial muscles spasm on taping
Chvostek sign - hypocalcaemia
44
fat, female, forty, fertile
cholelithiasis (gallstones)
45
fever, chills, headache, myalgia, following antibiotic use for syphylis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes result in endotoxin realese)
46
fever, cough, conjunctivitis, coryza, diffuse rash
measles
47
fever, night sweats, weight loss
B symptoms of lymphoma
48
fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disease)
49
golden brown rings around peripheral cornea
Wilson disease - kayser-fleischer rings
50
gout, intellectual disability, self-mutilation in a boy
Lesch-Nyhan syndrome - X linked recessive HGPRT deficiency
51
harmatoma GI polyps, hyperpigmentation of outh, feet, hands, genitals
Peutz-Jeghers synfroms (inherited benign polyposis increased obstruction risk, cancer risk)
52
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic femoral head necrosis, bone crises
Gaucher disease - glucocerebrosidase deficiency
53
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome - mutation in collagen IV
54
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome - bilateral amygdala lesion
55
hyperreflexia, hypertonia, + Babinski
UMN
56
hypotonia, hyporeflexia, atrophy, fasciculations
LMN
57
hypoxaemia, polycythaemia, hypercapnia
chronic bronchitis
58
indurated, ulcerated genital lesions
painful with exudate: chancroid. Painless: chancre (syphylis)
59
infant with cleft lip/palate, micrcephaly, polydactyl,cutis aplasia
Patau syndrome (trisomy 13)
60
infant with hypoglycaemia, hepatomegaly
Cori disease (debranching enzyme disease) or Von Gierke disease (glucose-6-phosphate deficiency)
61
infant with microcephaly, rocker bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
62
jaundice, palpable distended non-tender gallbladder
Courvoisier sign - distal malignant obstruction of bilairy tree
63
large rash with bull's eye appearance
erythema chronicum migrans - Lyme disease
64
lucid intervals after traumatic brain injury
epidural haematome (middle menigeal artery rupture)
65
male child, recurrent infections, no mature B cells
Bruton disease - X linked agammaglobinemia
66
mucosal bleeding and prolongued bleeding time
glanzmann thrombasthenia - defect in platelet aggregation due to lackof GpIIb/IIIa
67
muffled heart signs, distended neck veins, hypotension
Becks triad of cardiac tamponade
68
mutiple colon polyps, osteomas/soft tissue tumors, impacted or extra teeth
Gardner syndrome
69
myopathy (infantile hypetrophic cardiomyopathy) with exercise intolerance
Pompe disease - lysosomal alpha-1, 4-glucosidase deficiency
70
neonate with arm paralysis after a difficult birth
Erb-duchenne palsy (superior trunk C5-C6 brachial plexus injury) "waiters tip"
71
failure to lactate postpartum, absent menstruation, cold intolerance
Sheehan syndrome - pituitary infarction
72
nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
multiple sclerosis
73
painful blue fingers/toes, haemolytic anaemia
cold agglutin disease - autoimmune haemolytic anaemia caused by mycoplasm pneumoniae, infectious mononucleosis, CLL
74
painful fingers/toes, changing from white to blue to red with cold or stress
Reynauds - peripheral vasospasm
75
painful, red, raised lesions on pads of fingers/toes
Oslers nodes (infective endocarditis, immune complex deposition)
76
painless erythematous lesions on palms/soles
Janeway lesions (infective endocarditis, microemboli)
77
painless jaundice
cancer of the pancreatic head obstructing the bile duct
78
palpable purpura on buttocks/legs, joint pain, abdominal pain in kids, haematuria
Henoch-schonlein purpura - IgA vasculitis affecting skin and kidneys
79
pancreatic, pituitary, parathyroid tumors
MEN1 - autosomal dominant
80
periorbital and/or peripheral oedema, proteinuria >3.5g/day, hypoalbuminaemia, hypercholesterolaemia
nephrotic syndrome
81
pink compexion, dyspnea, hyperventilation
pink puffer - emphysema (centriacinar smoking, panacina alpha-1 antitrypsin deficiency)
82
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalance, hypophosphatemic rickets
fanconi syndrome - multiple combined dysfunction of the proximal tubule
83
pruritic, purple, polygonal planar papules and plaques - 6 P's
Lichen planus
84
ptosis, anhydrosis, miosis
Horner syndrome - sympathetic chain lesion
85
pupil accomodates but doesn't react
argyll robertson pupil - neurosyphylis
86
rash on palms and soles
coxsackie A virus (kids) or secondary syphylis
87
recurrent non-inflammed (cold) abcesses, unussual eczema, high serum IgE
Job syndrome - hyper IgE with neutrophil chomoitaxis abnormality
88
Red “currant jelly” sputum in alcoholic or diabetic pt's
klebsiella pneumonia pneumonia
89
Red “currant jelly” stools
acute mesenteric ischaemia in adults, intussesception in kids
90
Red, itchy, swollen rash of nipple/areola
Pagets disease or breast - possible underlying neoplasm
91
Red urine in the morning, fragile RBCs
paroxysmal nocturnal haemoglobinuria
92
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease - dominant tumor suppressor gene mutation
93
resting tremor, rigidity, akinesia, shufling gate
parkinsons - loss of dopaminergic neurons in substantia nigra pars compact
94
retinal haemorhhages with pale centres
roths spots - infective endocarditis
95
severe jaundice in neonates
Crigler-Najjar syndrome - congenital unconjugated hyperbilirubinemia
96
severe RLQ pain on palpating LLQ
Rovsing sign - appendicitis
97
short stature, café-au-lait spots, thumb/radial defects, increased incidence of tumors, aplastic anaemia
fanconi anemia - genetic loss of DNA crosslink repair, often progresses to AML
98
single palmar crease
Down's
99
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
100
Skin hyperpigmentation, hypotension, fatigue
1° adrenocortical insufficiency (eg, Addison disease) causes increased ACTH and increased ?-MSH production)
101
Slow, progressive muscle weakness in boys
Becker muscular dystrophy - X linked missence mutation of dystrophin
102
small, irregular, red spots on buccal/lingual mucosa with blue-white centres
Koplik spots - measles (rubeola) virus
103
smooth, moistm painless, wart-like white lesions on genitals
condylomata lata - secondary syphylis
104
strawberry tongue
scalet fever, kawasaki syndrome
105
streak ovaries, congenital heart disease, horseshow kidneys, cystic hygroma at birth, short stature, webbed neck, lymphedema
turner sydrome (45, X)
106
swollen gums, mucosal bleeding, poor wound healing, petichae
scurvy - viatmin C deficiency
107
telangiectasia, recurrent nose bleeds, skin discolouration, arteriovenous malformation, GI bleeding, haematuria
Osler-Webb-Rendu syndrome
108
thyroid and parathyroid tumors, pheochromocytoma
MEN 2a - autosomal dominant RET mutation
109
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2b
110
unilateral facial drooping including forehead
UMN disorder of CN VII
111
urethritis, conjunctivitis, arthritis in male
reactive arthritis associated with HLA-B27
112
weight loss, diarrhoea, arthritis, fever, adenopathy
Whipple disease
