MOD Final review

Question 1

megaloblastic anemia with increased methylmelonic acid. vit def

Answer 1

B12; FA 92, 392

Question 2

brain morphology in SIDS

Answer 2

astrogliosis of brainstem, serotonin neurons of medulla oblongata destroyed

Question 3

CBC shows blasts in peripheral blood

Answer 3

think leukemia. if child, ALL

Question 4

12;21 translocation in leukemia

Answer 4

ALL; FA 402

Question 5

18 mo, distended abd, proptosis

Answer 5

neuroblastoma; FA 325

Question 6

aniridia, mental retardation, WT1 deletion. what gene

Answer 6

PAX6

Question 7

IGF-2 with wilms tumor; what syndrome

Answer 7

Beckwith-Wiedemann; FA 546

Question 8

Gonadoblastomas with wilms tumor; what syndrome

Answer 8

Denys Drash syndrome

Question 9

lobar PNA; what type of infection

Answer 9

bacterial infection

Question 10

bronchoPNA; what type of infection

Answer 10

viral infection

Question 11

decreased CH50

Answer 11

complement is being used; probably due to some widespread antibody-antigen disease

Question 12

anti-topoisomerase

Answer 12

diffuse sclerodomera; FA 436

Question 13

anti-centromere

Answer 13

limited scleroderma; CREST; FA 436

Question 14

anti-SSA

Answer 14

sjrogren syndrome; FA 430

Question 15

high output cardiac failure in alcoholic; what vit def

Answer 15

B1 (thaimine); wet beri beri; FA 89

Question 16

polyneuritis, symmetrical muscle wasting; vit def

Answer 16

B1 (thiamine); dry beri beri; FA 89

Question 17

confusion, ophthalmoplegia, ataxia in alcoholic; what vit def

Answer 17

B1 (thiamine); Wernicke-Korsakoff syndrome; FA 89

Question 18

peripheral neuropathy after taking isoniazid; what vit def

Answer 18

B6 (pyridoxine); FA 90

Question 19

cheilosis; what vit def

Answer 19

B2 (riboflavin) FA 89

Question 20

megaloblastic anemia with neuro symptoms and methylmalonic acid; what vit def

Answer 20

B12 (cobalamin) FA 92, 392, 471

Question 21

dysgeusia, anosmia, delayed wound healing

Answer 21

Zn deficiency; FA 94

Question 22

Homer-Wright rosettes. dz

Answer 22

neuroblastoma; FA 325

Question 23

pneumatosis intestinalis.

what is it, what dz

Answer 23

gas within intestinal wall seen on XR.
necrotizing enterocolitis.
FA 365

Question 24

intrauterine infection causing:

cataracts, PDA, deafness.

Answer 24

Rubella embryopathy;

FA 175, RRP 151

Question 25

most common renal malignancy of early childhood (2-4 years)

Answer 25

Wilms tumor; ch 10 notes

Question 26

ovarian cancer tumor marker

Answer 26

CA 125

FA 237

Question 27

breast cancer tumor marker

Answer 27

CA 15-3

FA 237

Question 28

pancreatic adenocarcinoma

Answer 28

CA 19-9

FA 237

Question 29

microcytic anemia, rbc basophilic stippling with increased protopophyrin. cause

Answer 29

lead poisoning; FA 390

Question 30

xerophthalmia, keratomalacia; what vit def

Answer 30

Vit A; FA 89

Question 31

subperiosteal hemoatoma; vit def

Answer 31

Vit C; FA 93

Question 32

neurological symptoms, spinocerebellar tract demyelination. has anemia, MCV is NL. what vit def

Answer 32

Vit E; neuro similar to B12, but no megaloblastic anemia

FA 93

Question 33

huntington; what part of brain atrophies

Answer 33

caudate nucleus

Question 34

gaucher; what enzyme

Answer 34

glucocerebrosidase

FA 111

Question 35

peripheral neuropathy with angiokeratomas; dz, enzyme

Answer 35

fabry, galactosidase A; FA 111

Question 36

Lewy bodies contain what

Answer 36

alpha synuclein

Question 37

wrinkled tissue paper

Answer 37

gaucher; FA 111

Question 38

Clenched hands

Answer 38

Tri 18

Question 39

Cleft lip, polydactyly

Answer 39

Tri 13; FA 626