NeoReviews 2022 Flashcards
CCHD Low Sens
interrupted aortic arch
coarctation of the aorta
double outlet right ventricle
Ebstein anomaly
Osteomyelitis
- Common site = femur>humerus>tibia
- Frequently extends to next joint in neonates
- Septic arthritis of the hip joint occurs in 20% of infants with osteoarticular infection but is difficult to detect clinically and can contribute to aseptic necrosis of the femoral head
- Therapeutic drainage of sequestered foci in bones or joints is necessary only if there is inadequate response to antibiotics.
- Osteomyelitis of the sternum can be a postoperative complication of cardiac surgery with sternotomy
HSAS
- X-linked recessive hydrocephalus caused by stenosis of the aqueduct of Sylvius
- L1CAM gene
- Hydrocephalus with macrocephaly, split sutures and adducted thumbs
Zellweger
- short humeri and femurs (rhizomelia), BONY STIPPLING, cataracts, prominent forehead, hypertelorism, and midface hypoplasia with a small nose and upturned nostrils
- AR caused by a mutation in the PEX7 gene
- Long-term complications include seizures, contractures and spasticity, psychomotor delays, growth restriction, aspiration (often requiring gastrostomy feedings), and frequent pulmonary infections.
- peroxisome biogenesis factor 1 (PEX1) gene located on the long arm of chromosome 7 (7q21-22)
- ELEVATED VLCFA
Antenatal Steroids Before 34 weeks
1.decreases the risk for IVH and RDS and reduces perinatal mortality and RDS and reduces perinatal mortality.
2. The use of antenatal steroids after 34 and 0/7 weeks gestation is associated with an increased risk of neonatal hypoglycemia
Noonan Syndrome
- AD, PTPN11
- RASopathies are caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway
- broad forehead, hypertelorism, downslanting palpebral fissures, and low-set, posteriorly rotated ears
- Prenatal features of NS are increased nuchal translucency, distended jugular lymphatic sacs, cystic hygroma, hydrops fetalis, pleural effusion, polyhydramnios, congenital heart disease, and renal abnormalities.
- The most common cardiac defects are pulmonary valvular stenosis, secundum atrial septal defect, hypertrophic cardiomyopathy, and partial atrioventricular canal.
Fetal Growth Restriction
Birth weight less than the 3rd percentile
OR
At least 3 of the following:
Birth weight less than the 10th percentile
Head circumference less than the 10th percentile
Length less than the 10th percentile
Prenatal diagnosis of fetal growth restriction
Maternal pregnancy information that is associated with fetal growth restriction (eg, maternal hypertension, pre-eclampsia)
IUGR long term Risks
- increased risk of obesity, hypertension, hyperlipidemia, coronary artery disease, and type II diabetes.
- IUGR is also associated with the development of chronic kidney disease and osteoporosis.
- Infants with IUGR are at risk of having impaired cognition, language, learning, behavior, motor function, vision, and hearing.
- The infant mortality rate is higher for IUGR infants than for those who are appropriate for gestational age (AGA).
Congenital CMV
CNS involvement: Microcephaly, ventriculomegaly, calcifications, cortical malformations, chorioretinitis, SNHL, and presence of CMV DNA in cerebrospinal fluid
Thrombocytopenia, petechiae
Hepatomegaly, splenomegaly
Hepatitis with elevated transaminases
Intrauterine growth restriction
CMV treatment recommendations
treat only neonates with moderate to severe symptoms and to begin treatment within 1 month after birth.
Treatment is currently not recommended for infants whose only manifestation of congenital CMV is SNHL.
Close audiologic follow-up, consisting of evaluation every 6 months for the first 3 years, is recommended to detect progressive hearing loss and offer early intervention.
Intravenous ganciclovir treatment for 6 weeks has been shown to improve hearing outcomes in neonates with symptomatic congenital CMV infection and evidence of CNS involvement.
Valganciclovir is an orally administered prodrug of ganciclovir that improves hearing outcomes in infants with congenital CMV after 6 months of treatment with fewer side effects, though neutropenia still occurs in approximately 20% of patients
T antigen activation
may occur in infants with necrotizing enterocolitis, leading to hemolysis similar to that of hemolytic uremic syndrome in older children.
A high degree of suspicion is necessary to diagnose T-antigen activation, with laboratory confirmation needed.
Washed packed red blood cells are indicated if T-antigen activation is confirmed.
Myelomeningocele Complications
50 to 90% of infants with myelomeningocele have progressive hydrocephalus and require CSF diversion.
Endoscopic third ventriculostomy with choroid plexus ablation is an effective alternative to indwelling ventricular shunts.
Transient diabetes insipidus has been reported as a complication of endoscopic third ventriculostomy, likely related to hypothalamic injury.
Free water deficit is calculated as follows:
water deficit (L) = weight (kg) × ([plasma sodium/normal sodium] − 1) × 0.6
where 0.6 represents percent body water
Central DI
Results from a deficiency of antidiuretic hormone (arginine vasopressin), which is produced in the hypothalamus and stored in the posterior pituitary gland.
Postoperative DI after ETV is almost always transient, resolving within 10 days, but treatment can be required in the interim.
Fluid administration to infants with DI includes replacement of insensible losses and urine output.
Maintenance sodium supplementation should be provided, because the underlying pathology is water deficit rather than sodium excess.
In addition, the free water deficit for the neonate is calculated as follows:
water deficit (L) = weight (kg) × ([plasma sodium/normal sodium] − 1) × 0.6
where 0.6 represents percent body water
Infantile Hemangiomas Risk Factors
may be found in up to 5% of all infants.
They are more common in infants who are white, female, twins, premature, and/or low birthweight, with an incidence of 22% to 30% in infants weighing less than 1,000 g at birth.
Premature infants treated with erythropoietin have
been found to be at increased risk of developing IHs.
Older maternal age, chorionic villus sampling, placenta previa, and preeclampsia have also been identified as predisposing factors.
Infantile Hemangioma
Segmental IHs of the face and/or scalp may be a sign of PHACE syndrome (posterior fossa defects, hemangiomas, cerebrovascular arterial anomalies, cardiovascular anomalies, and eye anomalies)
Segmental IHs of the lumbosacral and/or perineal area may be associated with LUMBAR syndrome (lower body IH and other cutaneous defects, urogenital anomalies and ulceration, myelopathy, bony deformities, anorectal malformation and arterial anomalies, and renal anomalies).
