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Clinical Specialties - Pediatrics > Neonatal Medicine and Genetic Syndromes > Flashcards

Neonatal Medicine and Genetic Syndromes Flashcards

1
Q

what is the name for the syndrome that results from sudden discontinuation of fetal exposure of substances abused by the mother?

A

Neonatal Abstinence Syndrome (NAS)

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2
Q

What are the clinical manifestations of NAS?

A
  • hyperirritability/high-ptiched excessive crying
  • tremors
  • Gi disturbances - v/d
  • hypertonia
  • feeding difficulties
  • autonomic dysfunction (sweating, fever, mottling, yawning)
  • FTT
  • seizures in 2-11% of infants with NAS
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3
Q

what is the typical onset for NAS?

A

24-72

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4
Q

what is the most commonly used substance to treat NAS?

A

morphine

(prolongs hospitalization)

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5
Q

what is contraindicated in NAS?

A

naloxone

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6
Q

what are the complications of maternal diabetes?

A

macrosomia

prematurity

hypoglycemia-hyperinsulinemia

respiratory distress

congenital anomalies (DM early in preg.)

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7
Q

what is the leading cause of birth defects and dd?

A

fetal alcohol syndrome

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8
Q

what is the pathology of FAS?

A

frontal lobe CNS effect (irreversible)

reduces brain volume and functioning

inefficient elimination–>alcohol exposure

no “safe” threshold for alcohol consumption identified

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9
Q

what are the effects of alcohol exposure during the first trimester?

A

facial anomalies

major structural anomalies

brain anomalies

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10
Q

what are the effects of alcohol exposure in the second trimester?

A

spontaneous abortion

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11
Q

what is the effect of alcohol exposure in the third trimester?

A

affects weight, length, brain growth

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12
Q

what are the criteria for diagnosing FAS?

A

small palpebral features, smooth philitrum, thin upper lip (must have ALL 3)

documentation of growth deficits

documentation of CNS abnormality

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13
Q

what are the signs of respiratory distress in the newborn?

A

tachypnea

nasal flaring

grunting

retractions (suprasternal, intercostal, subcostal)

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14
Q

what is the cause of transient tachypnea of the newborn?

A

impaired fetal lung fluid clearance

risks: prematurity, c-section

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15
Q

what is the treatment for transient tachypnea of the newborn?

A

supportive

may require supplemental o2

CPAP may be necessary to drive fluid into circulation

course is self-limited and does not usually require mechanical ventilation

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16
Q

what is respiratory distress syndrome/hyaline membrane disease?

A

respiratory distress with cyanosis (central) due to surfactant deficiency or dysfunction

pulmonary edema develops - relative oliguria

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17
Q

what distinguishes TTN and RDS?

A

central cyanosis

ground glass pattern on cxr (RDS)

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18
Q

what percentage of babies born with meconium staining go on to develop MAS?

A

10%

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19
Q

how is apena of prematurity defined?

A

cessation of breathing for 15 seconds

cessation of breathing accompanying a bradycardia and desaturation

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20
Q

what is the clinical presentation of Turner Syndrome?

A

lymphadema (swelling in hands and feet)

webbed neck

low set ears

low hairline

broad chest with wide-spaced nipples

higher incidence of hip dysplasia

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21
Q

what is Kleinfelter syndrome?

A

XXY

1:500 male births (rarely diagnosed before puberty)

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22
Q

what are the clinical manifestations of Kleinfelter’s syndrome?

A

microorchidism, with otherwise normal male genitalia

azoospermia, sterility

gynecomastia

dimihsed facial hair

normal to borderline normal intelligence

23
Q

what are the three general categories for metabolic disorders?

A
  1. intoxication
  2. energy failure
  3. complex molecules
24
Q

what do noisy breathing sounds suggest in the infant?

A
25
Q

what are the xray findings in TTN?

A
  • diffuse parenchymal infiltrates in the interstitium
  • fluid in the interlobar fissure
  • occasionally pleural effusions
26
Q

what are the risk factors for RDS?

A

prematurity

perinatal asphyxia

maternal diabetes

absence of maternal steriod administration

27
Q

what are the characteristic findings on xray for RDS?

A

ground glass pattern infiltrates

low lung volumes

28
Q

what is the clinical presentation of RDS?

A

marked respiratory distress and cyanosis within first hours of life

29
Q

what is the treatment for RDS?

A
  • mild cases may respond to CPAP
  • more severe may require mechanical ventilation
  • diuresis
  • exogenous surfactant is possible, but no clear guidelines

Antenatal corticosteroids: Improve lung maturity. Betamethasone

and dexamethasone cross the placenta readily and improve mortality

if given > 24-48 hours prior to delivery; however, they are of unknown

benefit after 34 weeks’ GA. Administration of> 3 courses of antenatal

corticosteroids is associated with -ve neurologic outcome and growth.

• Empiric antibiotic therapy: Sepsis and congenital pneumonia may be

indistinguishable from RDS early on.

• Optimize thermoregulation to reduce further cold stress; optimize nutrition.

30
Q

what is Meconium Aspiration Syndrome (MAS)?

A

occurs when fetus passes meconium before birth and aspirate it in utero or immediately after birth

31
Q

how do you diagnose MAS?

A

meconium stained amniotic fluid and respiratory distress without other known cause

32
Q

what is the treatment for MAS?

A

02 supplmentation

CPAP or mechanical ventilation

exogenous surfactant

ECMO?

*routine suctioning no longer recommended as prevention

33
Q

What is PPH?

A

failure to acheive or sustain the normal post-natal decrease in pulmonary vascular resistance

leads to right-to-left shunting across the da or fo causing hypoxemia

34
Q

what is the clinical presentation of PPH?

A

respiratory distress and cyanosis within hours of birth

pulse oximetry showing differential cyanosis between pre-ductal and post-ductal (often 10% or more)

35
Q

what is the treatment for PPH?

A

echo to rule out structural heart disease

mechanical ventilation

cardiotonic therapy (inotropes)

inhaled NO

ECMO

36
Q

what is the treatment for apnea of prematurity?

A

usually gets better with age, but if necessary, can treat with

CPAP and Methlyxanthines (Theophylline or Caffeine)

37
Q

What is the incidence of congenital diaphragmatic hernia?

A

1:2500 to 1:7000 live births

80-85% left side

38
Q

what are the 5 cyanotic congenital heart lesions?

A

The terrible “Ts”

  • Tetralogy of Fallot
  • Transposition of the great vessels (aorta and pulmonary)
  • total anomalous pulumonary venous return
  • tricuspid atresia
  • truncus arteriosis (pulmonary and aorta merged)
39
Q

What are the TORCH infections?

A

Toxoplasmosis

Other (Syphilis, HIV, Hep B, Varicella Zoster, Parvovirus B19)

Rubella

CMV

HSV

40
Q

what findings in neonates should lead you to consider TORCH infections?

A

microcephaly

intracranial calcifications

rash

IUGR

Jaundice/Hepatomegaly

Elevated transaminase

41
Q

what is NEC (necrotizing enterocolitis)?

A

acute inflammatory necrosis of the bowel primarily affecting premature infants

Klebsiella, E. coli, clostridia, coag negative staph, rotavirus

42
Q

what are the clinical manifestations of NEC?

A

abdominal distension, feeding intolerance (emesis, increased residuals), hematochezia, discoloration of skin

also (temp. instability, apnea, lethargy, poor perfusion, hypotension)

43
Q

what is the diagnostic radiographic hallmark of NEC?

A

penumatosis intesinalis (free air)

portal venous gas

can also see pneumoperitoneum (football sign)

44
Q

what is the treatment for NEC?

A

treat organism, supportive

surgery for dead/ischemic bowel

45
Q

what are the common causative organisms of neonatal sepsis?

A

Group B strep

E. Coli

Listeria monocytogenes

(mc cause - aspiration of vaginal bacteria)

46
Q

what are the clinical manifestations of neonatal sepsis?

A

respiratory distress

apnea

fever or temperature instability

poor feeding

cyanosis

neurologic abnormalities - seizures

47
Q

what is the treatment for neonatal sepsis?

A

empirirc therapy against early onset (gram+ and gram-)

48
Q

what is the frequency of Down Syndrome?

A

1:700 births

mostly due to nondisjunction

1-2%

49
Q

what additional diseases are children with Trisomy 21 at risk for?

A
  • congenital heart disease
  • thyroid (hypo or hyper)
  • ophthalmologic disorders (refractive errors, strabismus, nystagmus, cataracts)
  • hearing loss (both types
  • atlanto-axial instability/late hip dislocation
50
Q

what is transient myeloproliferative disorder?

A

accumulation of immature blasts in peripheral blood, liver and bone marrow

1:10 Down Syndrome

presents by 3 weeks (usually)

can cause hepatic dysfunction/fibrosis, renal failure

51
Q

what are some of the lesser-known additional management steps for Down Syndrome patients?

A

echocardiogram - at birth and adolescents to check for MVP

thyroid - birth, 6 months, then yearly

diet - low calorie, high fiber (prone to obesity)

52
Q

how do you manage Turner syndrome?

A

renal ultrasound for abnmls

echocardiogram

hearing

congenital glaucoma (check)

endocrinology- check thyroid, IBD and celiac more common

estrogens in early teen years to stimulate 2ndary sex char

53
Q

what are the clincial manifestations of klinefelter syndrome?

A

microorchidism with otherwise normal male genitalia

azoospermia, sterility

gynecomastia

diminshed facial hair

normal to borderline intelligence

54
Q
A

Clinical Specialties - Pediatrics (18 decks)

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