Peds Exam 1 Lecture 2: Neonatal Medicine & Genetic Syndromes Flashcards
What are the characteristic signs of NAS (neonatal abstinence syndrome)?
hyper-irritability, high-pitched excessive crying, tremors, diarrhea/vomiting, hypertonia, feeding difficulties, autonomic dysfunction (sweating, fever, mottling, yawning), failure to thrive
The physiologic pathway of NAS
Lack of opioids in chronically stimulated receptors leads to: super activation of adenyl cyclase –> incr cyclic adenosine monophosphate –> incr protein kinase –> incr transcription factors –> incr NT release
Complications of Maternal DM
macrosomia, prematurity, hypoglycemic-hyperinsulinemia, respiratory distress, congenital anomalies
Physiology of Neonatal Hypoglycemia
Maternal DM –> intermittent maternal hyperglycemia –> fetal hyperglycemia –> fetal pancreatic upregulation –> fetal hyperinsulinemia –> neonatal hyperinsulinemia –> loss of maternal glucose supply –> neonatal hypoglycemia at birth
What is the leading cause of preventable birth defects and developmental disabilities?
prenatal exposure to alcohol
What are the teratogenic irreversible CNS effects of alcohol?
Reduced brain vol and functioning, impulse control, memory & learning, motor coordination, and ability to work toward goals.
What are the effects of alcohol exposure during the first trimester?
Facial anomalies, major structural anomalies, brain abnormalities
What are the effects of alcohol exposure during the second trimester?
Spontaneous abortion
What are the effects of alcohol exposure during the third trimester?
Affects weight, length, and brain growth
Clinical features of FAS
Facial dysmorphism (small palpebral fissures, smooth philtrum, thin upper lip, low nasal bridge, epipcanthial folds, minor ear anomalies, micrognathia), structural birth defects (cardiac, skeletal, renal, ocular, auditory), and CNS involvement (microcephally, neurologic, functional).
Diagnosis of FAS requires:
- The three cardinal facial anomalies (small palpebral fissures, smooth philtrum, thin upper lip)
- Documentation of growth deficits
- Documentation of CNS abnormality
Signs of respiratory distress
Tachypnea, nasal flaring, grunting, retractions
Causes of: stertor, stridor, wheezing, and grunting
Stertor: nasopharyngeal obstruction
Stridor: laryngeal obstruction
Wheezing: lower airway obstruction
Grunting: compensatory sx for poor pulmonary compliance
What does stertor sound like?
Sonorous snoring sound, mid-pitched, monophonic, may transmit throughout airways, heard loudest with stethoscope near mouth & nose.
What does stridor sound like?
Musical, monophonic, audible breath sound. Typically high-pitched.
What is the cause of transient tachypnea of the newborn? And what is the normal physiologic process that typically prevents this?
Caused by impaired fetal lung fluid clearance.
Normally, the chloride & fluid secreting channels in the lung epithelium switch from secretion to absorption - starting to clear fluid & preparing the baby for breathing air instead of amniotic fluid. This is enhanced by labor (uterine contractions, adrenaline).
What are the two most common risk factors associated with transient tachypnea of the newborn?
Prematurity, C-section
Clinical manifestations of transient tachypnea of the newborn (incl imaging)
Tachypnea, increased work of breathing, diffuse parenchymal infiltrates from fluid in the interstitium (on CXR)
CXR in respiratory distress syndrome/hyaline membrane disease
Reticulogranular or “ground glass pattern” w/ air bronchograms, low lung vol
Pathophysiology of respiratory distress syndrome/hyaline membrane disease
Surfactant deficiency or dysfunction –> pulmonary edema - epithelial injury in airways, decr Na absorbing channels, and relative oliguria
What does aspirating meconium cause?
Meconium inactivates surfactant & obstructs the distal air passages –> hyperinflation and atelectasis.
MAS may also cause hypoxemic respiratory failure.
What is the treatment for MAS?
O2 supplementation, CPAP or mechanical ventilation (ECMO) if severe), exogenous surfactant
Pathophysiology of persistent pulmonary HTN of newborn
Failure to achieve/sustain normal decrease in pulmonary vascular resistance causes R to L shunting across the ductus arteriosus and/or foramen ovale, leading to hypoxemia.
What will determine the direction of the shunting in persistent pulmonary HTN of newborn?
Echo
What is the treatment for persistent pulmonary HTN of newborn?
Mechanic ventilation, cardiotonic therapy, inhaled nitric oxide, & ECMO.
What defines apnea of prematurity?
Cessation of breathing >15 seconds or cessation of breathing w/ bradycardia and desaturation.
How do you diagnose congenital diaphragmatic hernia?
US
What will you see on CXR with congenital diaphragmatic hernia?
Intestines are where the heart and lungs should be.
Is acrocyanosis related to circulation or hypoxia?
Circulation
Why can you not detect central cyanosis until O2 sat <85%?
Fetal Hb dissociates O2 differently & delivers O2 at a lower saturation. O2 saturation will have to get very low in order to see the cyanosis.
What are the “terrible T’s”?
Tetrology of Fallot, Transposition of the Great Vessels, Total Anomalous Pulmonary Venous Return (TAPVR), Tricuspid Atresia, Truncus Arteriosis
What is “TORCH”? And what does it stand for?
TORCH is a group of congenitally acquired infections that may cause significant morbidity and mortality in neonates. TORCH stands for: Toxoplasmosis, Other (syphilis, Hep B, varicella zoster, HIV, parvovirus B19), Rubella, Crytomegalovirus, and HSV
Manifestation of Necrotizing Enterocolitis
Abd distention, feeding intolerance, hematochezia, discoloration of skin, +/- nonspecific sx (temp instability, apnea, lethargy, poor perfusion, HoTN)
What is pathognomonic for Necrotizing Enterocolitis on XR?
Pneumatosis intestinalis
portal venous gas, “free air”/football sign/pneumoperitoneum
Most common route leading to infection/sepsis of newborn
Aspiration of vaginal canal contents (specifically for GBS)
Most common bacterial infections associated w/ neonatal sepsis
GBS, E.coli, Listeria monocytogenes
Manifestations of sepsis
Respiratory distress, apnea, fever/temperature instability, poor feeding, cyanosis, neuro abnormalities
Work-up for Sepsis
Blood culture, urine culture, LP, & CBC
Treatment of Sepsis
Empiric therapy for early-onset sepsis –> combo of gram + (listeria, GBS) & gram - (E.coli) abx
Clinical features of Down Syndrome
- Atypical (up-slanted) palpebral fissures
- Small nose w/ low nasal bridge
- Inner epicanthal folds
- Brushfield spots (speckling on iris)
- High arched palate
- Relative macroglossia, fissures
- Flat facial profile
- Brachycephaly w/ flat occiput
- Short neck, excess skin at nape
- Hypotonia at birth
- Single palmar crease
- Widely separate 1st and 2nd toes (sandal gap deformity)
Other Manifestations/Complications in Down Syndrome
Global developmental delay, congenital heart dz, hypo/hyperthyroidism, ophthalmologic d/o, hearing loss, orthopedic abnormalities, transient myeloproliferative d/o
Complications related to infiltration by blasts, found with Transient Myeloproliferative Disorder
Hepatic dysfunction/fibrosis, renal failure, respiratory insufficiency, +/- anemia &/or thrombocytopenia
What do younger children with Trisomy 21 have a 10-18 fold increased risk of?
AML
How often do you want to screen infants with Trisomy 21 for thyroid d/o?
Birth, 6 mo, then yearly
Clinical manifestations of Turner Syndrome in neonates
Lymphedema (resulting in swollen hands & feet), webbed neck, low set ears, low hairline, broad chest w/ wide spaced nipples, higher incidence of hip dysplasia
Who has Turner Syndrome?
Girls w/ single X chromosome (45X) -> absence of all or part of secondary sex chromosome
Who has Klinefelter Syndrome?
Males w/ sex chromosomal pattern XXY
What are the clinical manifestations of Klinefelter Syndrome at puberty?
Microorchidism w/ otherwise normal male genitalia, azoopsermia, sterility, gynecomastia, diminished facial hair
