Presentations II

Question 1

male child, recurrent infection, no B cells mature

Answer 1

bruton disease

x-linked agammaglobulinemia

Question 2

beck triad

Answer 2

cardiac tamponade

distended neck vein
muffle heart sound
hypotension

Question 3

multiple colon polyp
osteoma - soft tissue tumors
impacted supernumerary teeth

Answer 3

gardner syndrome

Question 4

pompe disease

Answer 4

lysosomal a-14 glucosidase deficiency

Question 5

arm paralysis after difficulty birth

Answer 5

erbe-duchenne palsy

waiter tip

upper brachial plexus

Question 6

sheehan syndrome

Answer 6

pituitary infarction with hypotension after pregnancy

Question 7

nystagmus, intention tremor, scan speech, B/L internuclear ophthalmoplegia

Answer 7

MS

Question 8

cold agglutinin disease

Answer 8

mycoplasma pneumonia
infectious mono
CLL

Question 9

osler nodes

Answer 9

painful red raised lesion pad of finger/toe

Question 10

strawberry tongue

Answer 10

kawasaki

scarlet fever

Question 11

streak ovary, horseshoe kidney, cystic higroma

Answer 11

turner syndrome XO

Question 12

scurvy

Answer 12

vit C deficient

cannot hydroxylate proline and lysine

Question 13

osteoarthritis joints

Answer 13

PIP -bouchard

DIP - heberden

Question 14

telangiectasia

Answer 14

osler-webere-reudn

Question 15

thyroid and parathyoid tumor, pheochromocytoma

Answer 15

MEN 2a

Question 16

thyroid tumor, pheochromocytoma, ganglioneuromatosis

Answer 16

MEN 2b

ganglioneuromatosis (mucous surfaces)
marfanoid

Question 17

UMN facial nerve lesion

Answer 17

spare forehead

because goes B/L

Question 18

urethritis, conjunctivitis, arthritis in male

Answer 18

reactive arthritis - HLA B27

Question 19

worst headache of life

Answer 19

subarrachnoid

Question 20

weight loss, fever, diarrhea, arthritis, adenopathy

Answer 20

whipple disease

Question 21

port wine stain on face

Answer 21

sturge weber

Question 22

painless jaundice

Answer 22

pancreatic head cancer - obstruct bile duct

Question 23

palpable purpura on buttocks, legs
joint pain
hepaturia

Answer 23

henoch schonlein purpura

IgA vasculitis

Question 24

pancreatic, pituitary, parathyroid tumor

Answer 24

MEN1 auto dom

Question 25

pink puffer

Answer 25

emphysema

Question 26

fanconi syndrome

Answer 26

polyuria, renal tubular acidosis type II
growth failure
lyte imbalance
hypoP rickets

dysfxn PCT in kidney

Question 27

rash palms and soles

Answer 27

coxsackie A
secondary syphilis
rocky mtn spotted fever

Question 28

jobs syndrome

Answer 28

hyper IgE syndrome

Question 29

currant jelly stool

Answer 29

acute mesenteric ischemia - adult

intussusception - child

Question 30

red urine in AM, fragile RBCs

Answer 30

paroxysmal nocturnal hemoglobinuria

Question 31

B/L renal cell carcinoma, hemangioblastoma, angiomatosis, pheochromocytoma

Answer 31

VHL syndrome

dominant tumor suppressor mutation

Question 32

retina hemorrhage - pale center

Answer 32

roth spots

bacterial endocarditis

Question 33

severe jaundice in neonate

Answer 33

crigler najjar

congenital unconjugated hyperbilirubin

Question 34

rovsing sign

Answer 34

RLQ pain - palpation of LLQ

Question 35

mcburney sign

Answer 35

RLQ pain - rebound tenderness

Question 36

short stature, cafe au lait spots, thumb defect, aplastic anemia

Answer 36

fanconi anemia

loss DNA crosslink repair

progress to AML

Question 37

skin hyperpigmented, HTN, fatigue

Answer 37

primary adrenocortical insufficiency - addison