Genetic Disorders Brandau

Question 1

Infant death before birth problem with

Answer 1

hemoglobinopathies leading to hydrops fetalis

Question 2

Infant death at birth

Answer 2

congenitla lactic acidosis

Question 3

sudden death 2-3 days of age

Answer 3

defect in fatty acid oxidation

Question 4

deterioration after a symptom free period

Answer 4

adrenal insufficiency

Question 5

absence or defect in tissue of the eye

Answer 5

Coloboma

Question 6

small poorly formed recessed jaw

Answer 6

micrognathia

Question 7

congenital defect where nose is sealed

Answer 7

choanal atresia

Question 8

known causes of congenital malformations

Answer 8

1. chromosomal defects
2. mandelian defects
3. infections
4. maternal diseases
5. drugs/toxins
6. irradiation
7. multifactorial
8. unknown

Question 9

Pt presents with retinal colomboma, choanal atresia, square face, micrognathia, malformed low set ears, shallow orbital ridges, systolic murmur, bilateral deafness, ventricular septal defect

Answer 9

CHARGE syndrome

Question 10

What does CHARGE in CHARGE syndrome stand for?

Answer 10

C - colomboma
H - heart defects, ie Tetrology of fallot
A - atresia choanae**
R - retardation of growth and development (growth falls off after time)
G - genitourinary problems (hypogonadism common)
E - ear, olfactory, and cranial nerve problems

Question 11

What is the 3C triad of CHARGE syndrome?

Answer 11

coloboma, choanal atresia, abnormal semicircular canals

Question 12

What type of genetic disorder is CHARGE syndrome?

Answer 12

autosomal dominant disorder

Question 13

Development of what is disrupted in CHARGE syndrome?

Answer 13

neural crest cells

Question 14

What gene is involved in CHARGE?

Answer 14

Microdeletions of CHD7 and occasionally deletion at 8q12

Question 15

HOXA cluster is associated with what systems development?

Answer 15

CNS, digestive, and head development

Question 16

CDH7 protein is what and associated with what

Answer 16

nuclear protein associated with nucleosome remodeling

Question 17

What does VATER/VACTERL association stand for?

Answer 17

V - vertebral defects
A - anal atresia
T-E - TE fistula w/ esophageal atresia
R - radial and renal dysplasia
C- cardiac defects
L - imb defects

Question 18

describe VATER syndrome vs association

Answer 18

syndrome has defined genetic cause

assocaition does not (characteristic features but no clearly defined genetic features to point to)

Question 19

dominant disorders tend to be problems with what?

Answer 19

receptors or structural proteins

Question 20

Patterns of deterioration with IEM

Answer 20

unexplained hypoglycemia
disorders of acid-base status
neurological deterioration
cardiac disorders (arrhythmias/cardiomyopathies)
acute parenchymal liver disease

Question 21

Major causes of hypoglycemia in infancy

Answer 21

Endocrine, metabolic, other

Question 22

Endocrine causes of hypoglycemia in infancy

Answer 22

adrenal insufficiency, growth hormone deficiency, hypothyroidism, hyperinsulinemia, hypopiuitarism

Question 23

Metabolic cause of hypoglycemia in infancy

Answer 23

disorders of carb metabolism, gluconeogenisis, organic acid metabolism, fatty acid oxidation and carnitine transport

Question 24

Other causes of hypoglycemia in infancy

Answer 24

drugs (oral hypoglycemic for diabetes/alcohol/aspirin)

sepsis (big mimicker of IEM)

Question 25

4 presentations of hypoglycemia in infancy

Answer 25

Cardiac failure Liver failure Hepatomegaly Recurrant intractable hypoglycemia

Question 26

How does hypoglycemia lead to cardiac failure?

Answer 26

body utilizes glucose first, the heart uses fatty acids which are metabolized by beta oxidation. If beta oxidation is the problem, you will NOT get ketoacidosis (no DKA)

Question 27

What presentation of hypoglycemia in infancy is associated with fatty acid oxidation?

Answer 27

Cardiac failure

Question 28

Liver failure despite correction of hypoglycemia indicative of what?

Answer 28

Galactosemia Hereditary fructose intolerance Tyrosinemia type I

Question 29

what common defect is associated with neonatal cataracts

Answer 29

Galactosemia

Question 30

Infants present with hypoglycemia with normal glucose levels with permanent glucose provision without signs of liver failure but with hepatomegaly may have what?

Answer 30

Glycogen storage diseases Type I and Type III or fructose 1,6-biphosphatase defects

Question 31

Infants that cannot maintain adequate glucose levels despite constant glucose provision and without evidence of ketoacidosis will most likely have _____

Answer 31

hyperinsulinemia

Question 32

neuro defect appearing 12-72 hours of age

Answer 32

urea cycle or branched chain organ acidemias

Question 33

neuro defect appearing 4-7 days of age

Answer 33

maple syrup urine disease

Question 34

neuro defect appearing 48 hours of age

Answer 34

hyperglycemia