Exam 1 Diagnosis Flashcards
Sx of Neonatal Abstinence Syndrome (NAS)
Hyperirritability/High-pitched excessive crying
Tremors
GI Disturbances
Hypertonia, exaggerated primitive reflexes
Feeding difficulties
Autonomic Dysfunction (sweating, fever, mottling, yawning)
Failure to thrive
May have: seizures, SGA, resp distress
What is Neonatal Abstinence Syndrome (NAS)?
Result of sudden discontinuation of fetal exposure to substances abused my mother (such as opioids)
Requirements of FAS diagnosis
small palpebral fissures (eye), smooth philtrum, thin upper lip
+ growth deficits
+ CNS abnormality
How does transient tachypnea of newborn
(TTN ) occur?
impaired fetal lung fluid clearance, late in gestation Cl and fluid secreting ch switch from secretion to absorption, process is enhanced by labor
(RF= c-section & prematurity)
Clinical presentation of TTN
Labs
tachypnea and ↑ work of breathing, lasts 24-72 hrs
CXR- diffuse parenchymal infiltrates (due to fluid in interstitium), fluid in interlobar fissure, occasional pleural effusions
What is Respiratory Distress Syndrome/Hyaline Membrane Disease?
surfactant deficiency or dysfn → pulm edema → epithelial inj → ↓ Na absorption ch
RF: prematurity, preinatal asphyxia, maternal diabetes, absence of maternal steroid admin
How does RDS present?
Labs?
w/in 1st hrs of life (usually right after delivery), marked resp distress, cyanosis
CXR- Ground glass pattern
How does Meconium Aspiration Syndrome (MAS) occur?
fetus passes meconium before birth and aspirate it → inactivates surfactant→ obstructs distal air passages → hyperinflation and atelectasis
Clinical presentation of meconium aspiration syndrome?
Labs?
meconium stained amniotic fluid → resp distress after delivery, tachypnea, cyanosis, ↑ work of breathing
CXR- diffuse, fluffy infiltrates
What is 7. Primary Pulmonary Hypertension of the Newborn (PPHN)?
failure to achieve normal ↓ in pulmonary vascular resistance → R to L shunt across ductus arteriosus → hypoxemia
Clinical presentation of PPHN
Labs
resp distress, cyanosis w/in hrs of birth
pulse ox showing cyanosis, echo to r/o structural heart dz, determine direction of shunt and assess ventricular fn
What is apnea of prematurity?
cessation of breathing >15 s (or accompanied by bradycardia and desat)
universal feature of preterm birth that resolves by 36-40 wks
What is congenital diaphragmatic hernia?
defect in diaphragm →cardiopulm abnormalities
How does congenital diaphragmatic hernia present and how do you diagnosis it?
resp distress at birth, ↓ breath sounds and may head bowel sounds, MC on L side
dx prenatally w/ US
When should you be considering TORCH?
Microcephaly Intracranial calcifications Rash Intrauterine Growth Restriction Jaundice Hepatomegally Elevated transaminase
What is Necrotizing Enterocolitis?
acute inflame necrosis of bowel primarily affecting premature infants caused by presence of abnormal microbio (Klebsiella, E. coli, clostridia, coag-neg staph, rotavirus)
Clinical presentation of Necrotizing Enterocolitis
abdominal distention, feeding intolerance (emesis, increased residuals, bilious gastric output), hematochezia, discoloration of skin, temp instability, apnea, lethargy, poor perfusion, hypotension
Radiographic imaging shows pneumatosis intestinalis (portal venous gas - free air) → football sign if progress to bowel perforation (air surrounding bowel)
What is the most likely diagnosis?
Necrotizing enterocolitis
Clinical presentation of neonatal sepsis
Onset: 1st wk of life (early) or 1st 3 mo (late), resp distress, apnea, fever/temp instability, poor feeding, cyanosis, neruo abnormalities (seizures)
W/U for neonatal sepsis
blood cx, urine cx, LP, CBC
Clinical features of Down Syndrome
Atypical palpebral fissures Small nose w/ low nasal bridge Inner epicanthal folds Brushfield spots High arched palate Relative macroglossia, fissures Flat facial profile Brachycephaly with flat occiput Short neck, excess skin at nape Hypotonia at birth Single palmar crease Widely separated 1st and 2nd toes
What is Transient Myeloproliferative Disorder?
occurs in children with Down syndrome → appears like leukemia, may have assoc anemia and thrombocytopenia → tx is supportive
lymphedema causing swollen hands and feet, webbed neck, low set ears, low hairline, broad chest w/ widely spaced nipples, ↑ incidence of hip dysplasia, amenorrhea or short stature
Turner Syndrome (X)
W/u for Turner Syndrome
Karyotype
usually present after pubertu with microorchidism (small testes) azoospermia (not prod. Sperm), sterility, gynecomastia, diminished facial hair
Klinefelter syndrome (XXY)
Signs of malnourishment, malabsorption, chronic illness, neglect
1st drop in weight curve
followed by height and finally head
Primary Microcephaly
Head Circumference <3rd percentile
Head growth remains below “Normal” range
Caused by number of inherited disorders or syndromes
Secondary Microcephaly
Normal HC at birth
then “falls off” the normal curve over months or years
More concerning than primary
Caused by perinatal or post-natal insult e.g, asphyxia.
Dilation of ventricular system
crossing growth curve percentiles
split surures < 12 years old
Inc ICP
hydrocephalus
enlargement of head
>97th percentile on growth curve but parallels the curve
Macrocephaly
Craniosynostosis
one or more of the fibrous sutures prematurely fuses → bone → changes growth pattern of the skull → trapezoid shape
Plagiocephaly
flattening of the head
School failure, cognitive loss, hyperactivity, aggression, inattention, distractibility and delinquent behaviors
Abdominal colic, constipation, growth failure, hearing loss, microcytic anemia, dental caries, spontaneous abortions, renal disease, osteopenia, cardiovascular disease
lead posioning
Painless, gross blood in stool mucus
Presents in first 1-2 months of life
Food protein proctocolitis
Severe repetitive vomiting and diarrhea within hours of trigger food intake
Presents between 2 and 7 months of age
Food Protein Induced Enterocolitis Syndrome (EPIES)
MC cause of Food Protein Induced Enterocolitis Syndrome (EPIES)
Cow’s milk and soy
Can also be rice, oat, grains, egg, vegetables, poultry
What is the MC type of lactose intolerance in infants?
Secondary lactose intolerance such as after gastroenteritis or celiac disease
Increased gas, diarrhea (osmotic)
lactose intolerance
pernicious anemia, neuropathy, glossitis
vit b 12 deficiency
scurvy, pour wound healthing
vit C deficiency
vision, growth issues
vit A deficiency
anemia, neural tube defects, rash
folate deficiency