GI and Nutrition

Question 1

what is marasmus?

Answer 1

severe calorie malnutrition

Question 2

what is kwashiorkor?

Answer 2

severe protein deficiency (will have pitting edema, fatty liver)

Question 3

what are common manifestations of vitamin C deficiency?

Answer 3

follicular hyperkeratosis, “corkscrew-coiled” hairs, gingival bleeding, brittle bones, anemia

Question 4

Answer 4

white lines of frankl - associated with vit c deficiency (scurvy)

Question 5

what are characteristics of vitamin A deficiency?

Answer 5

Vitamin A Night blindness, xerophthalmia, Bitot spots, follicular hyperkeratosis

if corneal clouding present - emergency, needs large doses of IV vitamin A

Question 6

what causes scaly skin, pseduotumor cerebri and hepatomegaly?

Answer 6

vitamin A overdose

Question 7

what is seen with vitamin D deficiency?

Answer 7

weight-bearing age and results in poor growth, curvature of weight-bearing bones (Fig. 10-9), widening of epiphyses, and costochondral “rachitic rosary” beading (Fig. 10-10). Craniotabes, or softening of the skull, may be seen in infants

Question 8

lab findings in rickets?

Answer 8

high PTH

low 25-OH D3

high 1,25-OH2

low calcium

low phos

Question 9

before and after of what disease?

Answer 9

Rickets. Radiograph of the wrist of a patient with rickets. A, Irregularity and widening of the epiphyses in the distal radius and ulna. B, With appropriate therapy, remineralization and healing occur.

Question 10

what is the other name for vitamin E?

Answer 10

tocopherol

Question 11

manifestations of vitamin E deficiency?

Answer 11

neurologic dysfunction, neuroaxonal degernation and loss of reflexes, hemolytic anemia, peripheral neuropathy

Question 12

what vitamin deficiency causes:

Beriberi: parasthesias, foot and wrist drop

Wernicke encephalopathy: opthalmoplegia, ataxia, confusion

Answer 12

thiamine (b1)

Question 13

what vitamin deficiency causes:

cheilosis and sore tongue?

Answer 13

riboflavin (b2)

Question 14

what vitamin deficiency causes:

pellagra: dermatitis, dementia and diarrhea

Answer 14

niacin B3

Question 15

what vitamin deficiency causes:

megaloblastic anemia?

Answer 15

cobalamin B12

Question 16

what vitamin deficiency causes:

diarrhea, rash, hypoguesia

Answer 16

zinc

Question 17

in what syndromes can esophageal perforation occur spontaneously?

Answer 17

marfan and ehlers danlos

Question 18

what metabolic derrangement occurs with pyloric stenosis?

Answer 18

hypochloremic hypokalemic metabolic alkalosis

Question 19

what is menetrier disease?

Answer 19

protein-losing gastropathy secondary to CMV

swollen fundus and body

Question 20

what is zollinger-ellison syndrome?

Answer 20

gastrin-secreting tumor (gastrinoma)

Question 21

what is associated with gastrinomas?

Answer 21

MEN-1

so look for hyperparathyroidism and adrenal tumors

Question 22

at what age do kids start to develop lactase deficiency?

Answer 22

2yrs and up

Question 23

what is abetalipoprotinemia?

Answer 23

autosomal recessive

absence of apo B

inability to synthesize chylomicrons

maldorous steatorrhea, FTT

need fat soluble vitamins, limit fat intake

Question 24

what is hartnup disease?

Answer 24

defect in transport of free neutral amino acids

Question 25

what is defective in blue diaper syndrome?

Answer 25

tryptophan (malabsorption of it)

Question 26

how do children with abnormal zinc absorption present?

Answer 26

bullous and pustular dermatits alopecia blepharitis conjunctivitis diarrhea FTT

Question 27

what is absorbed in the ileum (important for short gut kids)

Answer 27

bile salts vitamin B12

Question 28

name some things associated with UC

Answer 28

clubbing ankylosis spondylitis erythema nodosum pyoderma gangrenosum primary sclerosing cholangitis dvt/pulm embolism

Question 29

name some things associated with chron's disease

Answer 29

apthous ulcers fissures anal fistulas abscesses weight loss growth failure

Question 30

which responds to bowel rest: UC or chrons

Answer 30

chrons

Question 31

how does peutz-jeghers present

Answer 31

autosomal dominant GI harmartomatous polyps and mucocutaneous hyperpigmentation lip and buccal freckles! intermittent colicky abdominal pain increased risk of cancers

Question 32

what is proteus syndrome?

Answer 32

hemihypertrophy, hamartomatous polyps, gigantism of extremities, angiomas (PTEN related)

Question 33

what is Gardner syndrome?

Answer 33

familial adenomatous polyposis with extraintestinal tumors desmoid tumors, epidermoid cysts, osteomas, need screening colonoscopies, thryoids studiesn, and upper GI studies to monitor for cancer

Question 34

what type of lymphoma is common in the small intestine

Answer 34

burkitt's lymphoma (non-hodgkins)

Question 35

what are omphaloceles associated with?

Answer 35

beckwith-wiedemann, pentalogy of cantrell, trisomies

Question 36

which is located on the midline - omphalocele or gastroschisis?

Answer 36

omphalocele - umbilical cord connects to it gastroschisis is to the right of the umbilicus

Question 37

what are the top three causes of rectal prolapse?

Answer 37

1. constipation 2. diarrhea 3. CF

Question 38

what are the top two causes of exocrine pancreatic insufficiency?

Answer 38

1. CF 2. Shwachman-Diamond syndrome

Question 39

what makes up shwachman-diamond syndrome?

Answer 39

pancreatic insufficiency, short stature, neutropenia, skeletal abnormalities autosomal recessive higher risk of myelproliferative disorders

Question 40

what is the cullen sign? the grey turner sign?

Answer 40

cullen: bluish discoloration around/near umbilicus grey turner: bluish discoloration of the flanks both associated with acute hemorrhagic pancreatitis

Question 41

what is the triad for choledocal cyst? how do you image it?

Answer 41

abdominal pain, jaundice, RUQ mass ultrasound will show extra and intrahepatic dilitation ERCP can show anatomy

Question 42

what is associated with congenital hepatic fibrosis?

Answer 42

autosomal recessive polycystic kidney disease

Question 43

what is caroli disease?

Answer 43

abnormality of the hepatic ductal plate - congenital dilation of the larger, segmental intrahepatic bile ducts can occur with congential hepatic fibrosis (dilated bile duct structuresand portal tracts without interlobular ducts in the center)

Question 44

what is alagille syndrome?

Answer 44

autsomal dominant associated with peripheral pulmonary stenosis and neonatal cholestasis "paucity" of small intrahepatic ducts, butterfly vertebrae, abnormal radius/ulna, and facies including pointed chin and prominent forehead

Question 45

what do you use for hepatitis A prophylaxis in case of exposure?

Answer 45

immunoglobulin also give to household contacts, needlesharing partners, daycare, nursing home

Question 46

does gilbert cause conjugated or unconjugated hyperbili?

Answer 46

unconjugated alteration in UDP-GT gene prominent during times of illness or fasting

Question 47

what is difference between crigler-najjar type 1 and type 2?

Answer 47

type 1: no conjugated bilirubin (complete absence of UDP-GT activity), need exchange transfusion as neonate type 2: partial activity, hyperbili \<10 is common, resolves with phenobarb

Question 48

what is dubin-johnson syndrome?

Answer 48

deficiency of MOAT/MRP2 gene - mild conjugated hyperbili, no hepatocellular injury

Question 49

how does a1-antitrypsin present?

Answer 49

neonatal cholestasis, juvenile cirrhosis, chronic hepatitis, hepatocellular cancer

Question 50

what are the screening tests for wilson disease?

Answer 50

ceruloplasmin (will be low) 24-hr urinary copper (high) liver biopsy can give D-penicillamine (will increase urinary excretion even higher)

Question 51

what is the triad for hemochromatosis?

Answer 51

elevated iron levels, bronzed skin, diabetes

Question 52

what are teh antibodies anti-sla and anti-lkm associated with?

Answer 52

autoimmune hepatitis | (look for other autoimmune diseases)

Question 53

what will you see on cholangiogram in primary sclerosing cholangitis?

Answer 53

"beading" - alternating normal and strictured portions of biliary tree

Question 54

what is fitz-hugh-curtis syndrome?

Answer 54

gonococcal perihepatitis

Question 55

what all is hydrops of the gallbladders associated with?

Answer 55

kawasaki, strep pharyngitis, prolonged fasting, tpn, HSP noninflammatory enlargement of gallbladder

Question 56

what is the most common malignant liver tumor in children?

Answer 56

hepatoblastomas elevated afp