10: Treatments of Common Disorders

Question 1

Monitor for tumors, esp of the eye, and multidisciplinary management.

Answer 1

Neurofibromatosis

Question 2

Lifelong restriction of lactose and untreated can cause death. Survivors will have severe retardation, cerebral palsy, cataracts, and liver disease.

Answer 2

Galactosemia

Question 3

Testosterone treatment.

Answer 3

Klinefelter syndrome

Question 4

Growth hormone, estrogen, and androgen therapy.

Answer 4

Turner syndrome

Question 5

Incurable but aggressive therapy (replacement enzymes, antibiotics, fat-soluble vitamins, predigested formula) can improve quality of life. Lung transplants.

Answer 5

Cystic fibrosis

Question 6

Phenylalanine restricted diet and if untreated can cause profound mental retardation.

Answer 6

PKU

Question 7

Blood transfusions and prophylactic antibiotics. Untreated can be lethal in infancy.

Answer 7

Sickle cell

Question 8

Glucocorticoids.

Answer 8

Congenital adrenal hyperplasia

Question 9

Oral replacement therapy. Residual hearing loss, vision loss, and developmental delay may be seen after treatment in symptomatic children.

Answer 9

Biotinidase deficiency

Question 10

Lifelong thyroid replacement. Untreated results in mental retardation, delayed development, constipation, feeding difficulties, poor growth, hypothermia, and hypoactivity.

Answer 10

Hypothyroidism

Question 11

Dietary limitation of amino acids and if untreated can lead to death within a few weeks.

Answer 11

Maple syrup urine disease

Question 12

IV glucose/dextrose in times of stressful illnesses and avoid fasting.

Answer 12

MCAD