Presentations I

Question 1

abdominal pain, ascites, hepatomegaly

Answer 1

budd chiaria

posthepatic venous thrombosis

Question 2

anaphylaxis after blood transfusion

Answer 2

IgA defcient

Question 3

bilateral hilar nodes, uveitis

Answer 3

sarcoidosis - noncaseating granulomas

Question 4

bone pain, bone enlargement, arthritis

Answer 4

paget

-increased osteoblast and osteoclast activity

Question 5

head bob, bounding pulse

Answer 5

aortic regurg

Question 6

NF1

Answer 6

pheochromocytoma
cafe au lait spots
lisch nodule - iris hamartoma

cutaneous neurofibromas

Question 7

mccune albright syndrome

Answer 7

mosaic GPCR mutation

cafe au lait - unilateral
polyostotic fibrous dysplasia
precocious puberty

Question 8

duchennes

Answer 8

X-linked rec

Question 9

cervical nodes, desquamating rash, coronary anerysm, red conjunctiva and tongue

Answer 9

kawasaki

tx - IGIG and ASA

Question 10

cherry red spot macula

Answer 10

nieman pick - sphingomyelin accumulation

tay sach - ganglioside accumulation

Question 11

dressler syndrome

Answer 11

post MI - fibrinous pericarditis

2-12 weeks after MI

Question 12

gower sign

Answer 12

duchenne

Question 13

huntington

Answer 13

CAG repeat

CH4

Question 14

chorioretinitis, hydrocephalus, intracranial calcifiaction

Answer 14

congenital toxoplasmosis

Question 15

internuclear ophthalmoplegia

Answer 15

damage to MLF

horizontal gaze palsy

Question 16

myxedema

Answer 16

derma edema - CT deposition

hypothyroid, graves

Question 17

deep labored breathing hyperventilaiton

Answer 17

kussmall - DKA

Question 18

dermatitis, dementia, diarrhea

Answer 18

pellagra

-B3

Question 19

dilated cardiomyopathy

Answer 19

wet beriberi - thiamine

Question 20

plummer vinson

Answer 20

may progress esophageal SCC

Question 21

dog cat bite

Answer 21

pasteurella

cellulitis at bite site

Question 22

ehler danlos

Answer 22

type V collagen defect - elastic skin, hypermobile joint

type III - vascular subtype

Question 23

virchow nodes

Answer 23

GI mets

Question 24

meniere disease

Answer 24

episodic vertigo, tinnitus, hearing loss

Question 25

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 25

mycosis fungoides - cutaneous T cell lymphoma | sezary - mycosis fungoides and malignant T cells in blood

Question 26

chvostek sign

Answer 26

tap face - hypoCa

Question 27

jarisch herxheimer rxn

Answer 27

fever, chill, HA, myalgia - after antibiotic tx of syphilis | -endotoxin release

Question 28

fever, cough, conjunctiva, coryza, diffuse rash

Answer 28

measles

Question 29

lesch nyhan

Answer 29

HGPRT deficient | X-linked recessive

Question 30

peutz jeghers syndrome

Answer 30

hamartomatous GI polyps | hyperpigmentation mouth, feet, hands, genitals

Question 31

gaucher disease

Answer 31

``` hepatosplenomegaly pancytopenia osteoporosis aseptic necrosis of femur bone crises ``` glucocerebrosidase deficient

Question 32

hereditary nephritis, sensorineural hearing loss, cataracts

Answer 32

alport - mutation collagen IV

Question 33

hyperphagia, hypersexuality, hyperoral, hyperdocility

Answer 33

kluver bucy syndrome B/L amygdala lesion

Question 34

blue bloater

Answer 34

chronic bronchitis hypoxemia polycythema hypercapnia

Question 35

painful chancre

Answer 35

chancroid - haem ducreyi

Question 36

nonpainful chancre

Answer 36

primary syphilis

Question 37

cherry red spot macula, hepatosplenomegaly, neurodegeneration

Answer 37

niemann pick | -sphingomyelinase deficiency

Question 38

cleft lip, microcephaly, holoprosencephaly, polydacyly, cutis aplasa

Answer 38

patau - CH 13

Question 39

infant hypoglycemia, hepatomegaly

Answer 39

cori - debranching enzyme deficiency von-gierke - deficient glucose 6 phosphatase - severe

Question 40

microcephaly, rocker bottom feet, clenched hand, heart defect

Answer 40

edward - CH 18

Question 41

courvoisier sign

Answer 41

distal obstruction of biliary tree get jaundice and palpable distended non-tender gallblader