PEDS - 3 - Less Common Newborn Problems

Question 1

Mutation in the gene required for T4 Production

Answer 1

Congenital Hypothyroidism

Question 2

Tx for Congenital Hypothyroidism

Answer 2

Hormone Replacement with T4

Question 3

Genetic defect in one of the adrenal enzymes responsible for glucocorticoid production, resulting in glucocorticoid insufficiency

Answer 3

Congenital Adrenal Hyperplasia

Question 4

Diagnostics for Congenital Adrenal Hyperplasia

Answer 4

ACTH Stimulation

Question 5

Tx for Congenital Adrenal Hyperplasia

Answer 5

Corticosteroid Replacement

Question 6

Inherited Defect in Amino Acid Metabolism

Answer 6

Phenylketonuria (PKU)

Question 7

Diagnostics for PKU

Answer 7

Phenylalanine

Question 8

Tx for PKU

Answer 8

Lifetime Low-Protein Diet, Avoid Products with Phenylalanine

Question 9

Enzyme deficiency and accumulation of galactose and metabolites in erythrocytes, other cells, and tissues

Answer 9

Galactosemia

Question 10

Important Sign/Symptom for Galactosemia

Answer 10

Cataracts, Hepatic Dysfunction

Question 11

Diagnostics for Galactosemia

Answer 11

Galactose-1-Phosphate Uridyltransferase Electrophoresis

Question 12

Tx for Galactosemia

Answer 12

Lactose- & Galactose-Free Diet

Question 13

Chromosomal Abnormality that presents with a Broad/Flat Face, Slanting Eyes, Short Nose, Absence of Rib, and Deep Palmar Creases

Answer 13

Trisomy 21 (Down Syndrome)

Question 14

Common Complications for Trisomy 21

Answer 14

Vision & Hearing Problems, CBC, TSH, OSA, Myelopathy, Celiac Dz, Psychiatric Problems, Obesity, and Valvular Heart Disease

Question 15

Tall, Thin Male, Reduced Body Hair, Feminine Fat Distribution, Small Testes, Gynecomastia, Delayed Puberty

Answer 15

Klinefelter Syndrome

Question 16

Tx for Klinefelter

Answer 16

Testosterone Replacement Therapy

Question 17

Females, Short Stature, Primary Amenorrhea, Early Ovarian Failure, Webbed Neck, Short 4th Metacarpals

Answer 17

Turner Syndrome

Question 18

What types of organ anomalies occur with Turner Syndrome?

Answer 18

Renal & CV

Question 19

X-Linked Dominant Inheritance of a Mutation of the Fragile X Mental Retardation (FMR1) Gene

Answer 19

Fragile X Syndrome

Question 20

Hypothalamic Insufficiency, Hyperphagia, Developmental Delay, Characteristic Facial Features

Answer 20

Prader-Willi Syndrome

Question 21

Management for Prader-Willi Syndrome

Answer 21

Behavioral Therapy & Hormone Replacement

Question 22

Prominent Occiput, Small Mouth, Shield Chest, Clenched Hands, Dysplastic Ears

Answer 22

Edwards Syndrome

Question 23

Prognathism, Abnormal Gair, Paroxysmal Laughter & Tongue Thrusting

Answer 23

Angelman Syndrome

Question 24

Management for Angelman Syndrome

Answer 24

Therapy & Seizure Prophylaxis