Peds

Question 1

child with small or absent lymphoid tissue and recurrent sinopulmonary and gastrointestinal infections

Answer 1

X-linked/Bruton agammaglobulinemia (results from a failure of B cell development) Treatment=monthly IV Ig infusion

Question 2

severe-combined immunodeficiency; child with severe, recurrent viral, fungal, and bacterial. infections and failure to thrive is caused by what?

Answer 2

adenosine deaminase deficiency=impaired T cell development

Question 3

child with disseminated bacterial infections with encapsulated bacteria (strep pneumo, neisseria meningiditis)

Answer 3

complement deficiency

Question 4

recurrent skin and pulmonary infections with catalase positive organisms (staph and serratia)

Answer 4

impaired oxidative burst in chronic granulomatous disease

Question 5

child with hypocalcemia, cardiac defects, failure to thrive, recurrent infections

Answer 5

thymic hypoplasia with DiGeorge syndrome (22q11.2 microdeletion)

Question 6

baby/child with hepatosplenomegaly and cherry red macula on exam

Answer 6

Niemann-Pick Disease

Question 7

what is deficient in Niemann Pick Disease?

Answer 7

sphingomyelinase dificiency

Question 8

cherry red macula with NO hepatosplenomegaly

Answer 8

Tay-Sachs Disease

Question 9

what is deficient in Tay-Sachs disease?

Answer 9

B-hexosaminidase A deficiency

Question 10

galactocerebrosidase deficiency

Answer 10

Krabbe disease

Question 11

glucocerebrosidadse deficiency

Answer 11

Gaucher disease

Question 12

lysosomal hydrolase deficiency with coarse facial features and corneal clouding

Answer 12

Hurler syndrome

Question 13

what are the signs and sx in CHARGE syndrome?

Answer 13

• Coloboma
• Heart defects
• choanal Atresia
• Retardation of growth/development
• Genitourinary abnormalities
• Ear abnormalities

Question 14

what are the signs and sx in VACTERL?

Answer 14

• Vertebral
• Anal atresia
• Cardiac
• TE fistula
• Renal
• Limb

Question 15

jaundiced baby that starts at 3-5 days and peaks at 2 weeks; no signs inadequate breast feeding or dehydration

Answer 15

breast milk jaundice

Question 16

jaundiced baby that runs yellow within the first week of life; has difficulty eating/latching and is dehydrated

Answer 16

breast feeding jaundice

Question 17

treatment for breastfeeding jaundice

Answer 17

increase frequency and duration of feeds to stimulate milk production

Question 18

growth failure and recurrent respiratory infections in infants is concerning for___

Answer 18

CF (pancreatic insufficiency; may also see greasy stools

Question 19

what is the dosing for HPV vaccine?

Answer 19

• <15 years old= 2 doses 6 months apart
• >15 years old= 3 doses

Question 20

most ocmmon cause of acute unilateral cervical lymphadenitis in children

Answer 20

staph aureus or strep pyogenes

Question 21

rapidly spreading rash in children <5 years of age with fever and sloughing off of skin

Answer 21

staphylococcal scalded skin syndrome

Question 22

rash that starts on the face and moves caudally; may have suboccipital or postauricular lymphadenopathy

Answer 22

rubella= German measles= togavirus

Question 23

treatment of group A strep/ strep pyogenes pharyngitis?

Answer 23

10 days of oral amoxicillin or penicillin G

Question 24

Klinefelter syndrome

Answer 24

47 XXY male, tall with long limbs, gynecomastia, small penis, sparse facial hair, small firm testes

Question 25

lab findings characteristeic of Klinefelter syndrome

Answer 25

elevated FSH and TSH, low testosterone, decreased sperm count

Question 26

pt with klinefelters are at increased risk of developing _____

Answer 26

extragonadal germ cell tumor