Falcon Review Pediatrics 5 Flashcards
How do environmental factors affect birth defects
10% of all birth defects or due to environmental factors
may be infectious agents, high-dose radiation, maternal metabolic disorders, mechanical forces in drugs
How does the time of the environmental factor affects birth defects
Before 12 weeks gestation: organogenesis, tissue morphogenesis defects
greater than 12 weeks gestation: retards fetal growth and tissue morphogenesis
Describe fetal alcohol syndrome
Alcohol is the most common major teratogen
signs and symptoms: 1. mental retardation 2. facies: – microcephaly – smooth philtrum – maxillary hypoplasia – short palpebral fissures – epicanthal folds 3. cardiac anomalies
what is the most common cause of single gene disorders
Sporadic mutations
Discuss trisomy 21
Most common genetic form of mental retardation
signs and symptoms: 1. Facies: – flat occiput – up slanting palpebral fissures – inner epicanthal folds – brushfield spots – protruding tongue 2. Hypotonia 3. Mental retardation 4. Clinodactyly, Simian crease 5. Endocardial cushion defects 6. Duodenal atresia
Discuss trisomy 18
Signs and symptoms:
gross deficiency
mental retardation
prominent occiput, low set ears, micrognathia
clenched hands with overlapping fingers, rocker bottom feet,
cardiac defects and > 50% – most commonly VSD
what is the inheritance and mutation for Marfan syndrome
Autosomal dominant
defect in gene for fibrillin-1
one of the signs and symptoms of Marfan syndrome
- tall stature, arachnodactyly, long limbs, hyper mobile joints
- Kyphosis, pectus excavatum/carinatum
- Lens subluxation
- Cardiac anomalies: aortic dilation/dissection
What is fibrillin
Glycoprotein that is essential for the formation of elastin fibers formed in connective tissues
What are the signs and symptoms of Turner syndrome
Short stature
gonadal dysgenesis (streak ovaries)
congenital lymphedema, broad chest, wide spaced nipples, low posterior hairline, webbed neck
cardiac anomalies: bicuspid aortic valve, coarctation most common
What is the treatment for Turner syndrome
Estrogen replacement
growth hormone
What are the signs and symptoms of Klinefelter syndrome
47 XXY
hypogonadism, infertility low IQ behavior problems tall, slim, long limbs gynecomastia
What is the treatment for Klinefelter syndrome
Testosterone replacement
What is the cause of fragile X syndrome
Mutation in the FM R1 gene (due to CCG tri-nucleotide repeats)
what are the signs and symptoms of fragile X syndrome
Large testicles, prominent jaw, protruding ears
Autistic features
– stereotypical behavior (hand flapping) and speech
What is genomic imprinting
Genes may be expressed differently depending on if they were inherited from the mother or the father
what is the defect with Prader Willi
Loss of paternal genetic material in location 15 Q
– loss of maternal material in the same location causes Angelman syndrome
what are the signs and symptoms of Prater willi
infant: – failure to thrive – hypotonia – poor suck – difficulty feeding – weak cry – genital hypoplasia
child/adolescent:
– mental retardation
– obesity
– hyperphagia
physical features:
– narrow bifrontal diameter
– almond eyes
– small, downturned mouth
What is Beckwith Weidmann
Duplicated chromosome 11
pancreatic B cell hyperplasia and excess availability of insulin like growth factor
What are the signs and symptoms of Beckwith Weidman
Macrosomia, macroglossia, prominent occiput and eyes Omphalocele Visceromegaly hypoglycemia
Discuss the pathophysiology of infants born to diabetic mothers
Maternal hyperglycemia causes fetal hyperglycemia which leads to hyperinsulinemia which functions to promote growth
What are the signs and symptoms of an infant born to a diabetic mother
Polycythemia large for gestational age hypoglycemia jaundice respiratory distress syndrome hypertrophic cardiomyopathy cardiac anomalies (VSD, AST, transposition) Lumbosacral agenesis
Discuss Pierre Robin sequence
Sequence of:
- Arrest in mandibular development during week 7-11 weeks of gestation
- Underdevelopment of the jaw
- Abnormal displacement of tongue
- Cleft palate
What are the signs and symptoms of Pierre Robin sequence
Micrognathia glossoptossis cleft soft palate poor feeding speech delay otitis media
30% will require tracheostomy until airway reaches adequate size
by age 4 or five, most children have normal profile as mandible catches up
What is the defects with Ehlers Danlos syndrome
Autosomal dominant defect in collagen synthesis; 10 subtypes
– type IV is associated with decrease in type III collagen and is associated with arterial rupture in visceral perforation
What are the signs and symptoms of Ehlers Danlos syndrome
Hyper extensible joints, poor wound healing
cardiac anomalies: MVP is common
blue sclera
What is the defect in phenylketonuria
Autosomal recessive defect in hydroxylation of phenylalanine to tyrosine
What are the signs and symptoms of phenylketonuria
Initially normal with complete presentation in first few months – fair-haired, fair skinned, blue eyes – eczematous rash – urine with musty odor – vomiting – severe mental retardation if untreated
How is phenylketonuria diagnosed
Newborn screening with high-level phenylalanine and normal level of tyrosine
elevated urine levels of phenylalanine metabolites (Guthrie test is qualitative/color change test for urinary metabolites)
What is the treatment for phenylketonuria
Diet low in phenylalanine
What are the signs and symptoms of a deficiency of galactose-1-phosphate uridyl transferase
Accumulation of galactose-1-phosphate
jaundice vomiting hypoglycemia cataracts hepatomegaly poor weight gain
What are the signs and symptoms of a deficiency in galactokinase
Cataracts
What is the defect associated with Lesch Nyhan syndrome
X-linked disorder of purine metabolism (deficiency of hypoxanthine guanine phosphoribosyl transferase leads to hyperuricemia)
What are the signs and symptoms of Lesch Nyhan syndrome
Overproduction of uric acid, neurological disability, behavior problems
– delayed motor development
– extrapyramidal signs
– self injury
How is Lesch Nyhan syndrome diagnosed
HGPRT enzyme analysis
What is the treatment for Lesch Nyhansyndrome
Allopurinol
behavior modification
What is the defect associated with Wilson disease
Autosomal recessive degeneration of basal ganglia/liver characterized by increased copper deposition
What are the signs and symptoms of Wilson’s disease
Kayser Fleisher rings
childhood: hepatic
– hepatomegaly, hepatitis or hepatic failure
adolescents: neuropsychiatric
– tremors, dysarthria, choreoathetosis, psychiatric symptoms, hepatomegaly
What are the steps to diagnosed Wilson’s disease
Low ceruplasmin (copper binding protein) level, elevated hepatic copper concentration
CT scan: hypo-denselesions in basal ganglia
What is the treatment for Wilson’s disease
Reduce copper intake
increase copper excretion (penicillamine)
fatal if untreated
What is the VATERAssociation
V – vertebral (hypoplastic or hemi)
A – anorectal (imperforate anus)
T – Tracheoesophogeal fistula (up to 70%)
R – renal/radial
C – cardiac (up to 75%-most common VSD, ASD, TOF)
L – Limb
What are the risk factors for toxoplasmosis
Undercooked meat
infected cat feces
What are the signs and symptoms of toxoplasmosis
Intracranial calcification hydrocephalus Courier retinitis/retinopathy jaundice hepatosplenomegaly
– infections early in the first trimester are less common but more serious
What is the treatment for toxoplasmosis
pyrimethamine
What is the treatment to a neonate born to hepatitis B positive mother
Infants should receive both hepatitis B immuno globulin and vaccine ASAP after delivery
What are the signs and symptoms of syphilis
Fetal or perinatal death and 40% of cases
early stage (before two years): – fever, anemia, failure to thrive, maculopapular rash (palms/souls), thrombocytopenia, hepatosplenomegaly, periostitis of long bones
late stage:
– skeletal (Sabre shin, Hutchison teeth, saddle nose)
what are the steps to diagnose syphilis
VDRL, RPR for screening
FTA – ABS for confirmation
What is the treatment for syphilis
Penicillin
What are the signs and symptoms of the rubella infection
IU GR cataracts mental retardation microcephaly cardiac defects (PDA, PS) hepatosplenomegaly, deafness, blueberrymuffin rash
What is the most common congenital infection
Cytomegalovirus
What are the signs and symptoms of a cytomegalovirus infection
IUGR prematurity petechiae from thrombocytopenia hepatosplenomegaly jaundice hearing loss choreoretinitis microcephaly PERIVENTRICULAR calcification
What are the complications associated with the cytomegalovirus infection
mental retardation
seizure
HEARING LOSS
visual defects
What is a treatment for cytomegalovirus
Ganciclovir
What are the signs and symptoms of a HSV congenital infection
Local (skin, eyes, mouth): 5–14 days
disseminated (liver and lungs): 5-7 days
CNS (lethargy, seizures): 3-4 weeks
What is the treatment HSV
Acyclovir
what is a cephalohematoma
Subperiosteal bleed: may not be present at birth
does not cross sutra lines
What is caput succedaneum
Scalp swelling (usually presenting part) crosses suture lines caused by pressure exerted during labor and delivery
Define subcutaneous fat necrosis and defined the causes
Palpable rubbery firm nodules
associate with difficult labor and delivery including forceps or vacuum delivery
most resolve spontaneously
What aretwo types of brachial nerve injury during labor and delivery
Erb Duchenne paralysis
Klumpkeparalysis
What is the cause of presenting condition with an ErbDuchenne paralysis
C-5 C6: arms adducted and pronated with wrist and finger flexion (waiters tip)
what is the cause and presenting condition with Klumpke’s paralysis
C7- T1: flexion and supination of the elbow with wrist extension finger flexion “claw hand”
may have ipsilateral Horner’s syndrome if are njured
What the two types of facial nerve palsy
Affected side of face does not move with cry 1. Peripheral: – affected for head side does not move 2. Central: – for headmovement is preserved
What is the most commonly fractured bone during delivery
Clavicular
What are the risk factors for clavicular fracture
Large babies
shoulder dystocia
What are the signs and symptoms of clavicular fracture
Asymmetric more reflects (affected side won’t move)
healing callus may be palpated
What is the treatment for neonatal conjunctivitiscaused by Chlamydia trachomatis
Oral erythromycin
use oral to prevent possible pneumonia
How do you differentiate between Chlamydia trachomatis and gonococcus regarding time of onset
Chlamydia trachomatis occurs 5-14 days after delivery
gonococcus occurs 2 to 5 days after delivery
What is the treatment for neonatal gonococcus conjunctivitis
Cefotaxime
What is choanal atresia
Septum between the nose and the effects: associated with CHARGE syndrome
What is CHARGE syndrome
C – coloboma H – heart disease A – atresia choanae R – retarded growth/development G – genital anomalies (hypogonadism) E – ear anomalies (deafness)
The signs and symptoms of a choanal atresia
Bilateral obstruction may present as cyanosis relieved by crying (infants are obligate news breathers)
What is the treatment for choanal atresia
Surgical correction
What is the treatment for a cleft lip and cleft palate
Lip repaired shortly after birth
palates repaired 12 to 24 months after birth
What is congenital torticollis
Injury to the sternocleidomastoid muscle during delivery, usually treated with stretching exercises
What are branchial cleft cyst
Unilateral incomplete closure of the branchial clefts, can become infected
What are thyroglossal duct cysts
Midline, moves when patient moves there tongue
painless
remove surgically
What is a cystic hygroma
benign, multiloculated growth of lymphatic tissue
– seen inTurner syndrome
What are the TORCH infections
T – toxoplasmosis O – other (syphilis, varicella) R – rubella C – CMV H – HSV/HIV
What is considered small for gestational age
Birth weight below the 3rd percentile
What are the types of IUGR
Symmetric (weights, length, head circumference are equally affected)
asymmetric (sparing of head circumference)
What are the causes of IUGR
Fetal: symmetric
– chromosomal/congenital disorders; TORCH infections
placental: asymmetric
– decreased weight, infarction, separation, twin-twin transfusion
maternal:
– toxemia, hypertension, malnutrition, tobacco, alcohol, narcotics
Where the complications for small for gestational age
Fetal deaths, asphyxia, cold stress, hypoglycemia, polycythemia/hyper viscosity
What are the most frequent drugs that are used during pregnancy that cause withdrawal in neonates
Heroin
methadone
What are the signs and symptoms of neonatal abstinence syndrome
Hyperactivity irritability fever diarrhea trimmers/jitters high-pitched crying sneezing vomiting nasals stuffiness poor feeding seizures tachypnea
What is the treatment for neonatal drug withdrawal
Narcotics (tincture of opium)
sedatives (phenobarbital)
reduction of noxious stimuli (calm, and dark, quiet environment)
What is the timeframe for neonatal abstinence syndrome to set in for heroin or methadone
Heroine– 48 hours
methadone – 2 to 6 weeks
what is the problem with cocaine exposure during pregnancy
Increased risk of preterm labor and placental abruption
complications include:
low birth weight
cerebral infarcts
intraventricular hemorrhage
What is respiratory distress syndrome
Hyaline membrane disease
surfactant deficiency resulting in atelectasis and ventilation-perfusion mismatch
– almost exclusively in premature’s less than 30 weeks
What is the signs and symptoms of respiratory distress syndrome
Respiratory distress soon after birth – tachypnea – nasal flaring – retractions – cyanosis – grunting
What will a chest x-ray demonstrated for hyalinemembrane disease
ground glass
air bronchograms
Discuss meconium aspiration
Aspiration of meconium stained amniotic fluid at delivery leading to chemical pneumonitis
signs and symptoms:
– term infants and more commonly postdate infants
– perinatal fetal distress (causing passage of meconium)
– reported meconium stained amniotic fluid
What will a chest x-ray demonstrate for meconiu aspiration
Patchy infiltrates
– hyaline membrane disease will show ground-glass appearance
– transient tachypnea of the newborn will show luid
What isthe complications associated with meconium aspiration
Persistent pulmonary hypertension
meconium pneumonitis can lead to persistent pulmonary hypertension
pneumonia
what are the effects of persistent pulmonary hypertension
Hypoxia
shunting
high right-sided heart pressures
abnormally opened foramina ovale and ductus arteriosus
What is the treatment for persistent pulmonary hypertension
Sedation and mechanical ventilation
Inhaled nitric oxide (pulmonary vasodilator)
ECMO (extra-corporeal membrane oxygenation)
What is a diaphragmatic hernia
Failure of the diaphragm to develop which causes abdominal contents to enter the chest and will lead to pulmonary hypoplasia on affected side
What are the signs and symptoms of the diaphragmatic hernia
Respiratory distress
scaphoid abdomen
bowel sounds in chest
associated with polihydramnios
What should be avoided with a diaphragmatic hernia
Bag valve mask ventilation
What is the treatment for a diaphragmatic hernia
Gastric decompression
intubation
surgical correction
What is the most common type of Tracheoesophogeal fistula
85% have the atretic esophagus and fistula between trachea and distal esophagus
– allows air and stomach and small intestine
– abnormal development of forgot
What are the signs and symptoms of the tracheoesophageal fistula
Coughing, frothy or bubbly secretions difficulty feeding excessive saliva/drooling choking with swallowing associated with polyhydramnios sinuses
Discuss jaundice
Deposition of bilirubin in the skin
maybe physiologic or pathologic, conjugated or unconjugated
JAUNDICE in first 24 hours is always pathologic
Discuss physiologic jaundice
Appears after first day, is unconjugated, and usually resolves by one week
related to immature function of glucoronyl transferase in newborns
Discuss breast-feeding jaundice
Refers to jaundiced with poor intake
all indirect
early (first 3 to 5 days, not on day one)
slight dehydration, few stools, milk not in
Discuss breast milk jaundice
Thought to be related to breast milk inhibiting glucoronyl transferase
all indirect
later, 1-2 weeks
Discuss Rh and ABO incompatibility
– mom is Rh negative and baby is Rh positive
– type O blood from mother and infant is A, B, or AB
Discuss biliary atresia
– Conjugated hyperbilirubinemia that may not be present until two weeks (not present at birth)
– early diagnosis is essential-all infants jaundiced at three weeks need screening
– Clay colored acholic stools associated with polysplenia
What is the purpose of the coombs test
Test for ABO incompatibility
What arethe complications of excess bilirubin
Unconjugated: neurotoxicity, kernicterus (choreoathetosis and hearing loss)
conjugated: liver failure if cause not corrected (biliary atresia)
What are the causes for neonatal sepsis
Group B streptococcus
E. coli
Listeria
What are the risk factors for neonatal sepsis
Maternal infection
prematurity
prolonged rupture of membranes
What are the signs and symptoms of neonatal sepsis
Crunching tachypnea cyanosis poor feeding irritability apnea bradycardia tremors seizures
What is the treatment for neonatal sepsis
ampicillin and a third-generation cephalosporin
Ampicillin for listeria
third-generation cephalosporin/aminoglycoside for the rest
What is thecause of an umbilical hernia
Incomplete closure of Foshee, associated with diastasis recti
usually close spontaneously by age 5
What is omphalocele
Herniation of peritoneum and abdominal contents into umbilical base through umbilical ring
– Bowel covered (amnio/peritoneal membrane)
– herniates through umbilical ring
– ASSOCIATED with other anomalies
What is gastroschchisis
Herniation without a sack to the right of the umbilicus
– bowel not covered
– herniates to the right of the umbilicus
– typically NOT associated with other anomalies
What is the most, medical and surgical emergency and a newborn
Necrotizing enterocolitis
– 90% occur in preterm infants
– usually first two weeks of life and related to introduction of feeds
What are the signs and symptoms of necrotizin enterocolitis
Bloody stools
apnea
lethargic
abdominal distention
What will a abdominal x-ray demonstrate for necrotizingenterocolitis
Pneumotosis intestinalis, portal venous gas, intestinal perforation
What is the treatment for necrotizing enterocolitis
Medical treatment: cessation of feeds, got decompression, systemic antibiotics, supportive care
surgical treatment: resected necrotic bowel
Discuss a malrotation/volvulus
Abnormal posterior fixation of the mesentery
at risk for twisting on its vascular supply
signs and symptoms:
Bilious emesis in the neonatal period
treatment: surgical correction
