Brandau and Dao Flashcards
(35 cards)
Coloboma
An absence or defect in tissue
A hole in one of the structures of the eye: iris, retina, optic disk
Classes of congenital malformations
- Chromosomal disorders: mother’s age, family history, characteristic physical findings
- Mandelian defects: family history, unexplained neonatal deaths, characteristic physical findings
- Infections
- Maternal diseases: diabetes, hypertension
- Drugs/toxins
- Irradiation
- Multifactorial causes
- Unknown
Signs to be suspicious of CHARGE syndrome
Coloboma, heart defect, choanal atresia
CHARGE syndrome
C-colomba H- heart defects A- choanal Atresia R- retardation of growth G- genitourinary problems E- ear, olfactory, and other cranial nerve problems --> abnormal circular canals
Physiology of CHARGE
Microdeletions in gene CHD7, located at 8q12
CHD7- nuclear protein that appears to be associated with nucleosome remodeling. This protein may target genes in a HOXA cluster which is involved in CNS, digestive, and head development
VATER/VACTERL
V-Vertebral defects
A- Anal atresia
T-E- fistula with esophageal atresia
R- Radial and Renal dysplasia
C for cardiac defects
L for limb defects
Syndrome vs Association
Syndrome has a defined genetic cause. Association does not
Before birth IEM
hemoglobinopathies leading to hydrops fetalis
At birth IEM
congenital lactic acidosis
Sudden death usually at age 2-3 days of age IEM
Defects in fatty acid oxidation
Deterioration after a symptom free period IEM
Adrenal insufficiency
Patterns of deterioration that suggests IEM
- Unexplained hypoglycemia
- Disorders of acid-base status
- Neurological deterioration
- Cardiac disorders: arrhythmias and cardiomyopathy
- Acute parenchymal liver disease
Endocrine causes of hypoglycemia in infancy
Adrenal insufficiency Growth hormone deficiency Hypothyroidism Hyperinsulinemia Hypopituitarism
Metabolic causes of hypoglycemia in infancy
Disorders of carbohydrate metabolism
Disorders of Gluconeogenesis
Disorders of Organic acid metabolism
Disorders of fatty acid oxidation and carnitine transport
Other causes of hypoglycemia in infancy
Drugs
Sepsis
Presentations of hypoglycemia in infancy
- Hypoglycemia and liver failure
- Hypoglycemia with hepatomegaly
- Recurrent intractable hypoglycemia
- Neurological deterioration
3 disorders to consider if evidence of liver failure remains despite correction of hypoglycemia
- Galactosemia
- Hereditary fructose intolerance
- Tyrosinemia type I
Hypoglycemia with hepatomegaly
Infants presenting with hypoglycemia that maintain normal glucose levels with permanent glucose provision without signs of liver failure with hepatomegaly may have glycogen storage diseases
Recurrent intractable hypoglycemia
Infants that cannot maintain adequate glucose levels despite constant glucose provision w/out evidence of ketoacidosis most likely will have hyperinsulinemia
Neurologic deterioration
- Most common presentation is usually seizures and hypotonia
- Can be caused by a variety of conditions including organic acidemias, urea cycle defects, maple syrup urine disease, fatty acid oxidation defects, and congenital lactic acidosis
- Rate of deterioration depends on the nature and severity of the defect
What are newborns given after delivery
- Erythromycin ointment in eyes to prevent infection
- Vitamin K injection to prevent bleeding
- Full bath
What do infants receive prior to discharge?
- First hepatitis B immunization
- Hearing screen
Fever in a neonate is an emergency (100.4)
Recommended vaccinations for infants 2-6 months
RV DTaP Hib PCV IPV
Newborn 2-5 days old
- Back to sleep
- Vitamin D supplementation for breastfed babies
- No honey for first year of life
- Set water heater to 120F
