Classic presentation Flashcards

1
Q

abdominal pain ascites hepatomegaly

A

budd chiari syndrome - post hepatic venous thrombosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

achilles tendon xanthoma

A

familial hypercholesterolemian dec LDL R signaling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

adrenal hemorrhage- hypotension-DIC

A

waterhouse-friderichsen syndrome- meningococcemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

arachnodactylyl lens dislocation- aortic dissection- hyperflexable joints

A

marfans syndrome -fibrillin defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

athlete w polycthemia

A

secondary to erythropoietin injection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

back pain fever night sweats weight loss

A

potts disease -vertebral tuberculosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

bilateral hilar adenopathy- uveitis

A

sarcoidosis- noncaseating granulomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

blue sclera

A

osteogenesis imperfecta type 1 collagen defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

bluish line on gingiva

A

burtons line -lead poisoning

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

bone pain- bone enlargement- arthritis

A

pagets disease of the bone- increase osteoblastic & osteoclastic activity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

bounding pulses, diastolic heart murmur- head bobbing

A

aortic regurg

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

butterfly facial rash, Raynouds phenomenon in young female-

A

SLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

cafe au laits spots - lisch nodules- iris hamartoma-

A

Neurofibromatosis type 1- pheochromocytoma- optic gliomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

cafe au lait spots - polyostotic fibrous dysplasia precocious puberty, multiple endocrine abnormalities

A

McCune albright syndrome- mosaic G protein signaling mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

calf pseudohypertrophy

A

muscular dystrophy most commonly Duchenne’s- Xlinked-Recessive deletion of dystrophin gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

cherry red spot on macula

A

tay-sachs- ganglioside accumulation or niemann pick spningomyelin accumulation- central retinal A occlusion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

chest pain on exertion

A

angina- stable with moderate exertion, unstable with minimal exertion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

chest pain pericardial effusion/friction rub -persistant fever following MI

A

Dresslers syndrome- autoimmune-mediated post MI fibrinous pericarditis, 1-2 weeks after acute episode.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

child uses arms to stand up from squat

A

gowers sign- duschenne muscular dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

child w fever later develops red rash on face that spreads to body

A

slapped cheeks- eryethema infectiousum-5ths disease parovirus B19

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

chorea, dementia, cuadate degeneration

A

huntingtons disease- AD CAG repeat expansion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

chronic exercise intolerance with myalgia fatique painful cramps myoglobinuria-

A

McArdles disease- muscle glycogen phosphorylase deficiency.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

cold intolerance

A

hypothyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia- damage to MLF- b/l MS or if unilateral from a stroke

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

continuous machinery heart murmur

A

PDA Closes with indomethacin -open or maintain w. misoprostol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

cutaneous dermal edema due to CT deposition

A

myxedema caued by hypothyroidism, graves diseases- pretibial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

dark purple skin/mouth nodules

A

kaposies sarcoma- usually AIDS pts MSM- associated w HHV8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

deep labored breathing hyperventilation

A

kussmauls breathing diabetic ketoacidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

dermatitis dementia diarrhea

A

pellagra - niacin(VitB3) deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

dilated cardiomyopathy- edema- alcholism or malnutrition

A

wet. beriberi- thiamin(Vit B1) deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

dog or cate bite results in infection

A

pasteurella multocida- cellulitis @ inoculation site

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

dry eyes, dry mouth arthritis-

A

sjorgrens syndrome- Autoimmune destruction of exocrine glands

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

dysphagia-esophageal webs- glossitis, iron deficiency anemia

A

plummer-vinsons syndrome- progress to esophageal squamous cell carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

elastic skin- hypermobility of joints

A

ehlers Danlos syndrome- type 3 collagen defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

enlarged, hard left supraclavicular node

A

virchows node - abdominal mets

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

erythroderma- lymphadenopathy- hepatosplenomegaly- atypical T cells

A

Sezary syndrome- cutaneous T cell lymphoma or mycosis fungiodes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

facial muscle spasms on tapping

A

chvosteks sign- hypocalcemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

fat female forty and fertile

A

cholelithiasis- gall stones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

fever chills HA myalgia following abx tx for syphilis

A

Jarisch herxheimer rxn- rapid lysis of spirochetes results in toxin release

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

fever cough conjunctivitis coryza diffuse rash

A

measles- morbillivirus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

fever night sweats weight loss

A

B symptoms staging of lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

fibrous plaques in soft tissue of penis

A

peyronies disease- CT disorder.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

gout mental retardation, self mutilating behavior in a BOY

A

Lesch- Nyhan syndrome- HGPRT def, X linked recessiv

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

green yellow rings around peripheral cornea

A

kayser fleischer rings- CU accumulation from wilsons disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Hamartomatous GI polyps hyperpigmentation of mouth feet and hands

A

peutz jeghers syndrome inherited bening polyposis can cause bowel obstruction and increase in cancer risk mainly GI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Hepatosplenomegaly osteoporosis neurologic symptoms

A

gauchers disease glucocerebrosidase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

hereditary nephritis sensorineural hearing loss cataracts

A

alport syndrome- mutation in alpha chain of collagen IV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

hyperphagia, hypersexuality, hyperorality hyperdocility

A

kluver bucy syndrome- bilateral amygdala lesion.

49
Q

hyperflexia hypertonia bainski sign present

A

UMN damage

50
Q

hyperflexia hypotonia atrophy fasciculation

A

LMN damage

51
Q

hypoxemia polycythemia, hypercapnia

A

Blue bloater- chronic bronchitis, hyperplasia of mucous cells

52
Q

indurated ulcerated genital lesions

A

nonpainful- chancre- 1 syphilis Treponema pllidum. painful w/ exudae chancroid- haemophilus ducreyi

53
Q

infant w cleft lip/ palate microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

patau’s syndrome - trisomy 13

54
Q

infant w failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemann picks disease - genetic sphingomyelinase deficiency

55
Q

infants with hypoglycemia, failure to thrive and hepatomegaly

A

Coris disease- debranching enzyme deficiency

56
Q

infants with microcephaly rocker bottom feet clenched hands and structural heart defect.

A

edwards syndrome- trisomy 18

57
Q

jaundice palpable distended non-tender gallbladder

A

courvoisiers sign- distal obstruction of biliary tree

58
Q

large rash with bulls eye appearannce

A

erythema chronicum migrans from Ixodes tick bite- lime disease Borrelia

59
Q

lucid interval after traumatic brain injury

A

epidural hematoma- middle minengeal A Rupture

60
Q

male child recurrent infections no mature B cells

A

brutons disease X linked agammaglobulinemia

61
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmanns thrombasthenia- defect in plt aggregation due to lack of GP2b/3a

62
Q

muffled heart sounds, distended neck veins, hypotension

A

becks triad of cardiac temponade

63
Q

multiple colon polyps- osteomas/soft tissue tumor, impacted supernumerary teeth

A

gardners syndrome- subtype of FAP

64
Q

myopathy infantile hypertrophic cardiomyopathy exercise intolerance

A

pompe’s disease- lysosomal alpha 1-4 glucosidase deficiency

65
Q

neonate w arm paralysis following difficult birth

A

Erb- duchenne palsy- superior trunk- C5-C6 brachial plexus injury- waitors tip

66
Q

no lactation postpartum, absent menstruation, cold intolerance

A

Sheehans sundrome pituitary infarcation.

67
Q

nystagmus intention tremore, scanning speech bilateral Internuclear opthalmoplegia

A

multiple sclerosis

68
Q

oscillating slow/fast breathing

A

cheyne stokes respiration- central apnea in CHF or increased ICP

69
Q

painful blue fingers toes, hemolytic anemia

A

cold agglutinin disease autoimmune hemoltic anemia caused by mycoplasma pneumoniae, infectious mononucleosis

70
Q

painful pale cold finger toes

A

raynauds phenomenon- vasospasms in extremities

71
Q

painful raised red lesions of pads of fingers/toes

A

oslers node- infective endocarditis immune complex deposition

72
Q

painless erythematous lesions on palms and soles

A

janeways lesions- infective endocarditis, septic emboli, microabscesses

73
Q

painless jaundice

A

cancer of pancreatic head obstructing bile duct

74
Q

palpable purpura on buttocks legs joint pain, abdominal pain child, hematuria.

A

henoch schonlein purpura- IgA vasculitis affecting skin and kidneys

75
Q

pancreatic pituitary parathyroid tumors

A

MEN 1 AD

76
Q

periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

A

nephrotic syndrome

77
Q

pink complexion, dyspnea, hyperventilation

A

pink puffer- emphysema-centriacinar-smoking– panacinar - alpha1 antitrypsin deficiency

78
Q

polyuria renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets

A

fanconis syndrome- Proximal tubular reabsorption defect.

79
Q

posterior anterior drawer sign

A

anterior cruciate ligament injury

80
Q

pruritic purple, polygonal planar papules and plaques- 6 Ps

A

lichen planus

81
Q

ptosis miosis anhidrosis

A

horners syndrome- sympathetic chain lesions

82
Q

pupil accomodates but doesnt react

A

argyll robertson pupil - neurosyphilis

83
Q

rapidly progressive leg weakness that ascends following GI URT infection

A

guillains barre syndrome- acute autoimmune inflam. demyelinating polyneuropathy

84
Q

rash on palms and soles

A

cox A, 2 syphilis, rocky mountain spotted fever

85
Q

recurrent colds, unusual eczema high serum IgE

A

hyper-IgE syndrome - jobs syndrome- neutrophil chemotaxis abnormality

86
Q

red currant jelly sputum in alcoholic or diabetic pts

A

Klebsiella pneumoniae

87
Q

red currant jelly stools

A

acute mesenteric ischemia adults, intussusception- infants

88
Q

red itchy swollen rash on nipple/areola

A

pagets disease of the breast represents underlying neoplasm

89
Q

red urine in the morning fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

90
Q

Renal cell carcinoma-b/l hemangioblastomas, angiomatosis-pheochromocytoma

A

von hippel-lindaus disease- Dominant tumor suppressor gene mutation

91
Q

resting tremor rigidity, akinesia, postural instability

A

parkinsons disease-nigrostriatal dopamine depletion

92
Q

retinal hemorrhages with pale centers

A

roths spots- bacterial endocarditis

93
Q

severe jaundice in neonate

A

criglers najjar syndrome- congenital unconjugated hyperbilirubinemia

94
Q

severe RLQ pain with palpation of LLQ

A

rovsing sign- acute appendicitis

95
Q

Severe RLQ pain w rebound tenderness

A

mcburneys sign- appendicitis

96
Q

short stature, increase tumors leukemia, aplastic anemia

A

fanconi’s anemia- genetic loss of DNA crosslink repair- often progress to AML

97
Q

Single palmar crease

A

Simian crease-down syndrome-

98
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility

A

kartageners syndrome- dynein arm defect affecting cilia

99
Q

skin hyperpigmentation, hypotension fatigue

A

addisons disease primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production

100
Q

slow progressive muscle weakness in boys

A

beckers muscular dystrophy- X linked missense mutation in dystrophin, less severe than duchenne’s

101
Q

small irregular red spots on buccal lingual mucosa with blue white centers

A

koplik spots- measles- rubeola virus

102
Q

smooth flat moist painless white lesions on genitals

A

condylomata lata- secondary syphilis

103
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

104
Q

strawberry tongue

A

scarlet fever, kawasaki disease toxic shock syndrome

105
Q

streak ovaries, congenital heart disease horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

turners syndrome 45 XO

106
Q

sudden swollen painful big toe joint tophi

A

gout podagra- hyperuricemia

107
Q

swollen gums mucosal bleeding - poor wound healing spots on skin.

A

scurvy- vit C def -cant hydroxylate proline and lysine for collagen synthesis

108
Q

swollen hard painful finger joints

A

osteoarthritis- osteophytes on PIP-bouchards nodes and DIP heberdens nodes

109
Q

systolic ejection murmor- crescendo-decrescendo

A

aortic valve stenosis

110
Q

thyroid and parathyroid tumors- pheochronocytoma

A

MEN2A- autosomal dominant RET mutation

111
Q

Thyroid Tumors, ganglioneuromatosis

A

MEN2B autosomal dominent RET mutation

112
Q

toe extension- fanning upon plantar scrape

A

babinski sign- UMN lesions

113
Q

unilateral facial drooping involves the forehead

A

facial nerve LMN CN 7 palsy

114
Q

urethritis conjunctivitis arthritis in a male-

A

reactive arthritis associated with HLA-B27

115
Q

Vascular birthmark- port wine stain

A

hemangioma - benign but associated with sturge weber syndrome

116
Q

vomiting blood following Gastroesophageal laceration

A

mallory-weiss syndrome- alcoholic or bulimic pts.

117
Q

weight loss diarrhea, arthritis, fever adenopathy

A

whipples disease – tropheryma whipplei

118
Q

worst headache of my life

A

subarachnoid hemorrhage.