4.3 Flashcards
how high will indirect bilirubin be in kernicterus
> 25
hereditary mild isolated unconjugated hyperbilirubinemia
Gilbert’s syndrome
what activity is reduced in Gilbert’s syndrome
UGT1A1
most common inherited disorder of bilirubin glucuronidation
gilbert’s syndrome
when might someone with Gilbert’s syndrome develop jaundice
periods of stress
fasting
alcohol
illness
dehydration
menstruation
alcohol use
overexertion
diagnosis of Gilbert’s syndrome
slight increase in isolated indirect bilirubin level with otherwise normal LFTs
treatment for Gilbert’s
no treatment; not needed
blockage, absence, deformity or total absence of a bile duct in newborns or young infants
biliary atresia
most common cause of neonatal jaundice that is surgically treatable
biliary atresia
procedure for biliary atresia
kasai procedure
what ducts are affected in biliary atresia
extra hepatic ducts (common bile duct and common hepatic duct)
gold standard of diagnosis for biliary atresia
cholangiogram
how is diagnosis of biliary atresia confirmed
liver biopsy
what type of bilirubin is increased in biliary atresia
conjugated/direct (because it is post hepatic)
most common indication for pediatric liver transplant
biliary atresia
when does physiologic jaundice appear
AFTER 24 hours
what type of bilirubin is elevated in physiologic jaundice
unconjugated/indirect
breastfeeding failure jaundice
inadequate intake of breast milk
breast milk jaundice
deconjugation of conjugated bilirubin by beta-glucuronidase which is in breast milk
crying for no apparent reason
colic
what criteria is used to diagnose colic
Wessel
Wessel criteria for colic
crying lasts > 3 hours
3+ days per week
infant is < 3 months of age
when does colic typically present
between 2nd and 3rd week of life
when does colic typically PEAK
6 weeks
when does colic RESOLVE
12 weeks
during what time of day is crying worse in colic
evening
pitch of cry in colic
louder, higher
may sound like infant is screaming
when might a baby with colic experience relief
after passing gas or feces
what are babies with colic at risk for
shaken baby
what disease is an important consideration in infants presenting with N/V
Infant GERD
GERD typically increases during what age
2-6 months – likely due to increase in volume of food
at what age does GERD begin to decreased
7 months
By what age is infant GERD usually resolved
18 months - 2 years of age
what is the only/most common symptom of infant GERD
spitting up/reflux
what is the only immunoglobulin that causes hemolytic disease of the fetus and newborn or erythroblastosis fetalis
IgG
causes of erythroblastosis fetalis
fetomaternal hemorrhage
ABO incompatibility
RH incompatibility
ABO incompatibility
Mom has O blood and natural antibodies to A and B
Fetus with A or B blood
erythroblastosis fetalis can lead to severe and life threatening anemia of the fetus which is called
hydrops fetalis
what test is used to diagnose erythroblastosis fetalis
DAT
Positive = presence of maternal antibodies + evidence of hemolysis
Negative = does not exclude bc A and B antigens are less developed in neonates
surgical removal of the prepuce that covers the glans penis
circumcision
what is anesthetized during circumcism
dorsal nerve
what is anesthetized during circumcision
dorsal nerve
what is anesthetized during circumcision
dorsal nerve
benefits of circumcision
decreased risk of acquiring HIV, HPV, HSV2 transmission
what color is meconium
sticky, greenish black
what color is transition stool
greenish-brown, yellowish-brown
stool in breastfed infants
mustard yellow, seedy
stool in formula fed infants
pasty yellowish brown - consistency of peanut butter
why do many infants have BM after every feeding
gastrocolic reflex
stools for constipated infant
dry, hard pellet stools
how often should newborns be monitored for jaundice
every 8-12 hours
how long do vital signs have to be stable before a newborn is discharged
12 hours
most common newborn hearing screening
otoacoustic emissions
when should all babies have a newborn screening
before they are one month old
all babies who do not pass the initial screening should have a follow up screening by what age
3 months
all babies should begin intervention with hearing loss before what age
6 months
other common hearing test for infants that utilizes electrodes
automated auditory brainstem response
5 bones in newborn skull
2 frontal bones
2 parietal bones
1 occipital bone
what is the largest fontanelle
anterior fontanelle
when does anterior fontanelle close
13-24 months
when does posterior fontanelle close
6-8 weeks after birth
when does mastoid fontanelle close
6-18 months
when does sphenoidal/anterolateral fontanelle close
6 months
large for gestational age
birth weight greater than 90th percentile – > 4000 g
(could be restricted to > 97th percentile) – > 4400 g
small for gestational age
< 10th percentile for gestational age
weight of a normal term infant
2500-3999 grams = 5.5-8.8 lbs
Normal range for ICP in infants
1.5-6 mmHg
most common presenting feature of increased intracranial pressure in infant
bulging anterior fontanelle
threshold for treatment for ICP in infants
ICP > 20 for longer than 5 minutes
accumulation of blood under scalp
cephalohematoma
does cephalohematoma cross suture lines
no
edematous scalp due to fluid accumulation shortly after delivery
caput succedaneum
does caput succedaneum cross suture lines
yes
bleeding in cephalohematoma is gradual, therefore
bleeding/swelling will not be evidence at birth
asymmetric shape of the head due to unilateral flattening
plagiocephaly
unilateral coronal synostosis
anterior plagiocephaly
premature fusion of lambdoid suture
posterior plagiocephaly
leading infectious cause of congenital hearing loss
congenital CMV
common cause of acquired hearing loss
bacterial meningitis
cleft lip is also called
cheiloschisis
cleft palate is also called
palatoschisis
combo of cleft lip and cleft palate
cheilopalatoschisis
common symptoms of palatoschisis
split uvula
how long do you have to stop breathing for it to be considered apnea
20 seconds
what does BRUE stand for
Brief
Resolved
Unexplained
Event
what actually is BRUE
apnea
bradycardia
color change (pallor or cyanosis)
gagging/choking
Does the American Academy of Pediatrics (AAP) recommend apnea monitors
no
earliest manifestation of cystic fibrosis
meconium ileus
what gene is mutated in cystic fibrosis
CFTR gene
failure to pass meconium within how many hours is a red flag for neonatal bowel obstruction
48 hours
What will you see on abdominal X-ray in baby with meconium ileus
soap bubble appearance
lens opacification (thickening)
cataracts
what are congenital cataracts usually caused by
TORCH syndrome
what will you see on PE for congenital cataracts
absent red reflex
leukocoria
opaque lens
neonatal galactorrhea is due to
maternal estrogen
“false menses” in newborn is commonly due to
lack of maternal estrogen
ventral
below
dorsal
upper side
congenital animal of the male urethra that results in abnormal ventral placement of the urethral opening
hypospadias
pathophysiology of hypospadias
failure of urogenital folds to fuse during development
should patients with hypospadias be circumcised
no
congenital animal of the male urethra that results in abnormal dorsal placement of the urethral opening
epispadias
what else is epispadias commonly associated with
bladder exstrophy
pathophysiology of epispadias
failure of midline fusion of penis
what might you see in a female with epispadias
bifid clitoris
should person with epispadias get circumcised
no
imperforate anus is commonly associated with what congenital abnormalities
VACTERL
What is VACTERL
V- vertebral decects
A - anal defects
C - cardiac defects
TE - TracheoEsophageal fistula
R - Renal defects
L - limb defects
how many defects must be present to diagnose VACTERL
at least 3
when should you suspect anal atresia
if newborn hasn’t had BM within 24 hours
retracted foreskin in an uncircumcised male that cannot be returned to the normal position
paraphimosis
between paraphimosis and phimosis, which is considered a urological emergency
paraphimosis
inability to retract foreskin over penis
phimosis
what could phimosis be due to
distal scarring of the foreskin
definitive management of paraphimosis and phimosis
circumcision
most common cause of painless scrotal swelling
hydrocele
initial test of choice for diagnosis of hydrocele
testicular ultrasound
treatment for hydrocele
watchful waiting
hernia through the umbilical fibromuscular ring
umbilical hernia
pathophysiology of umbilical heria
failure of umbilical ring closure – usually due to loosening of the tissue around the ring
management of umbilical hernia
observation - usually resolves by 2 years old
surgical repair may be indicated if still persistent in kids 5 years of age or older to avoid incarceration or strangulation
management of umbilical hernia
observation - usually resolves by 2 years old
surgical repair may be indicated if still persistent in kids 5 years of age or older to avoid incarceration or strangulation
when does umbilical cord usually fall off
1-3 weeks
adducting hip while holding knee straight
Barlow maneuver
flexing baby’s hip at 90 degrees and then abducting hip
Ortolani maneuver
which maneuver will pop the hip out of place if baby has developmental dysplasia of the hip
Barlow maneuver
what harness can you use in someone with developmental dysplasia of the hip
pavlik harness
clubfoot is also called
talipes equinovarus
what type of clubfoot is flexible and results from a fetus’s position in the uterus
positional clubfoot
characteristics of club foot
plantar flexion
inward tilting of the heel
adduction of the foot (medial deviation away from leg’s vertical axis)
most frequent congenital limb deformity
polydactyly
most common type of polydactyly
post axial (ulnar side/pinky side)
most common cause of congenital hypothyroidism
thyroid gland dysgenesis (80-85%)
common cause of congenital hypothyroidism in developing countries
lack of maternal iodine
how do infants with congenital hypothyroidism appear at birth
normal at birth
classic clinical features of neonates with hypothyroidism
prolonged jaundice
feeding problems
hypotonia
enlarged tongue
delayed bone maturation
umbilical hernia
what cognitive issues might someone with congenital hypothyroidism have
mental developmental delays
Goiter symptoms in children with congenital hypothyroidism
hoarseness and dyspnea due to tracheal compression
how to diagnose congenital hypothyroidism
primary hypothyroid profile: increased TSH and decreased T3 and T4
what causes torticollis
atypical contraction of the sternocleidomastoid muscle
if torticollis develops prenatally
congenital torticollis
describe the inheritance of crigler-najjar syndrome
autosomal recessive
hereditary unconjugated (indirect) bilirubin
crigler-najjar syndrome
the activity of what enzyme is decreased in crigler-najjar syndrome
glucuronosyltransferase (UGT); this is needed to convert indirect bilirubin to direct bilirubin
Two types of Crigler-najjar syndrome
Type 1 - no UGT activity; higher risk of developing bilirubin induced neurologic dysfunction
Type 2 (arias syndrome) - markedly decreased UGT activity
which type of crigler-najjar syndrome is often asymptomatic
Type 2
clinical manifestations of type 1 crigler-najjar syndrome
neonatal jaundice with severe progression during the 2nd week which may lead to kernicterus
Diagnosis of crigler-najjar syndrome
isolated elevated unconjugated bilirubin + normal LFTs
Type 1: strikingly elevated - 20-50
Type 2: elevated - 7-10 (<20)
when may symptoms of crigler-najjar syndrome worsen
fasting or illness
management for type 1 crigler-najjar syndrome
phototherapy + oral calcium
liver transplant is definitive
management for type 2 crigler-najjar syndrome
treatment isn’t usually necessary but phenobarbital may increase UGT activity in type 2
does phenobarbital help UGT activity in TYPE 1 crigler-najjary syndrome
no
breastfeeding can reduce the incidence of what illness in a baby
necrotizing enterocolitis
most common acquired hemolytic anemia
autoimmune hemolytic anemia
SIDS
when a baby younger than 1 dies for no apparent reason
how should you always lay a baby for them to sleep
on their BACK
should baby sleep on firm or soft surface
FIRM
congenital narrowing or blockage of the nasal passage by abnormal bony or soft tissue
choanal atresia
are most cases of choanal atresia unilateral or bilateral
unilateral
choanal atresia is associated with CHARGE syndrome. what does that stand for?
Colobama
Heart issues
Atresia of choanae
Retardation (physical and mental)
GU issues
Ear defects
hereditary conjugated (direct) Hyperbilirubinemia due to decreased hepatocyte excretion of conjugated bilirubin
dubin-johnson syndrome
what gene is mutated in dubin-johnson syndrome
MRP2
clinical manifestations of dubin-johnson syndrome
usually asymptomatic
may have mild icterus
diagnosis of dubin-johnson syndrome
mild, isolated conjugated Hyperbilirubinemia (at least 50% of bilirubin is conjugated)
biopsy for dubin-johnson syndrome
grossly black liver and dark granular pigment in the hepatocytes
treatment for dubin-johnson syndrome
this is a benign condition; no treatment is required
inherited disorder of hepatic storage –> conjugated and unconjugated Hyperbilirubinemia
rotor’s syndrome
Clinical presentation of rotor’s syndrome
usually asymptomatic
may have mild icterus
between dubin-johnson and rotors syndrome, which has normal levels of corporphyrin 1
dubin-johnson
between dubin-johnson and rotors syndrome, which has elevated levels of corporphyrin 1
rotor’s syndrome
what is responsible for generating alpha-1 antitrypsin
the liver
genetic disorder that leads to pan-acinar emphysema
alpha-1 antitrypsin deficiency
liver findings in alpha-1 antitrypsin deficiency
hepatomegaly, chronic hepatitis, cirrhosis, hepatocellular carcinoma
diagnosis for alpha-1 antitrypsin deficiency
serum alpha-1 antritrypsin is < 11 micromol/L
most common species in mastitis
staph aureus
most common cause of neonatal meningitis
Group b strep
