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► Med Misc 06 > Falcon Review Pediatrics 5 > Flashcards

Falcon Review Pediatrics 5 Flashcards

1
Q

How do environmental factors affect birth defects

A

10% of all birth defects or due to environmental factors

may be infectious agents, high-dose radiation, maternal metabolic disorders, mechanical forces in drugs

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2
Q

How does the time of the environmental factor affects birth defects

A

Before 12 weeks gestation: organogenesis, tissue morphogenesis defects

greater than 12 weeks gestation: retards fetal growth and tissue morphogenesis

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3
Q

Describe fetal alcohol syndrome

A

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
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4
Q

what is the most common cause of single gene disorders

A

Sporadic mutations

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5
Q

Discuss trisomy 21

A

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
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6
Q

Discuss trisomy 18

A

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

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7
Q

what is the inheritance and mutation for Marfan syndrome

A

Autosomal dominant

defect in gene for fibrillin-1

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8
Q

one of the signs and symptoms of Marfan syndrome

A
  1. tall stature, arachnodactyly, long limbs, hyper mobile joints
  2. Kyphosis, pectus excavatum/carinatum
  3. Lens subluxation
  4. Cardiac anomalies: aortic dilation/dissection
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9
Q

What is fibrillin

A

Glycoprotein that is essential for the formation of elastin fibers formed in connective tissues

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10
Q

What are the signs and symptoms of Turner syndrome

A

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

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11
Q

What is the treatment for Turner syndrome

A

Estrogen replacement

growth hormone

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12
Q

What are the signs and symptoms of Klinefelter syndrome

A

47 XXY

hypogonadism, infertility
low IQ
behavior problems
tall, slim, long limbs
gynecomastia
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13
Q

What is the treatment for Klinefelter syndrome

A

Testosterone replacement

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14
Q

What is the cause of fragile X syndrome

A

Mutation in the FM R1 gene (due to CCG tri-nucleotide repeats)

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15
Q

what are the signs and symptoms of fragile X syndrome

A

Large testicles, prominent jaw, protruding ears

Autistic features
– stereotypical behavior (hand flapping) and speech

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16
Q

What is genomic imprinting

A

Genes may be expressed differently depending on if they were inherited from the mother or the father

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17
Q

what is the defect with Prader Willi

A

Loss of paternal genetic material in location 15 Q

– loss of maternal material in the same location causes Angelman syndrome

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18
Q

what are the signs and symptoms of Prater willi

A 
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

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19
Q

What is Beckwith Weidmann

A

Duplicated chromosome 11

pancreatic B cell hyperplasia and excess availability of insulin like growth factor

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20
Q

What are the signs and symptoms of Beckwith Weidman

A 
Macrosomia, macroglossia,
prominent occiput and eyes
Omphalocele
Visceromegaly
hypoglycemia
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21
Q

Discuss the pathophysiology of infants born to diabetic mothers

A

Maternal hyperglycemia causes fetal hyperglycemia which leads to hyperinsulinemia which functions to promote growth

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22
Q

What are the signs and symptoms of an infant born to a diabetic mother

A 
Polycythemia
large for gestational age
hypoglycemia
jaundice
respiratory distress syndrome
hypertrophic cardiomyopathy
cardiac anomalies (VSD, AST, transposition)
Lumbosacral agenesis
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23
Q

Discuss Pierre Robin sequence

A

Sequence of:

  1. Arrest in mandibular development during week 7-11 weeks of gestation
  2. Underdevelopment of the jaw
  3. Abnormal displacement of tongue
  4. Cleft palate
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24
Q

What are the signs and symptoms of Pierre Robin sequence

A 
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

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25
Q

What is the defects with Ehlers Danlos syndrome

A

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

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26
Q

What are the signs and symptoms of Ehlers Danlos syndrome

A

Hyper extensible joints, poor wound healing
cardiac anomalies: MVP is common
blue sclera

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27
Q

What is the defect in phenylketonuria

A

Autosomal recessive defect in hydroxylation of phenylalanine to tyrosine

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28
Q

What are the signs and symptoms of phenylketonuria

A 
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
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29
Q

How is phenylketonuria diagnosed

A

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)

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30
Q

What is the treatment for phenylketonuria

A

Diet low in phenylalanine

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31
Q

What are the signs and symptoms of a deficiency of galactose-1-phosphate uridyl transferase

A

Accumulation of galactose-1-phosphate

jaundice
vomiting
hypoglycemia
cataracts
hepatomegaly
poor weight gain
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32
Q

What are the signs and symptoms of a deficiency in galactokinase

A

Cataracts

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33
Q

What is the defect associated with Lesch Nyhan syndrome

A

X-linked disorder of purine metabolism (deficiency of hypoxanthine guanine phosphoribosyl transferase leads to hyperuricemia)

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34
Q

What are the signs and symptoms of Lesch Nyhan syndrome

A

Overproduction of uric acid, neurological disability, behavior problems

– delayed motor development
– extrapyramidal signs
– self injury

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35
Q

How is Lesch Nyhan syndrome diagnosed

A

HGPRT enzyme analysis

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36
Q

What is the treatment for Lesch Nyhansyndrome

A

Allopurinol

behavior modification

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37
Q

What is the defect associated with Wilson disease

A

Autosomal recessive degeneration of basal ganglia/liver characterized by increased copper deposition

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38
Q

What are the signs and symptoms of Wilson’s disease

A

Kayser Fleisher rings
childhood: hepatic
– hepatomegaly, hepatitis or hepatic failure
adolescents: neuropsychiatric
– tremors, dysarthria, choreoathetosis, psychiatric symptoms, hepatomegaly

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39
Q

What are the steps to diagnosed Wilson’s disease

A

Low ceruplasmin (copper binding protein) level, elevated hepatic copper concentration

CT scan: hypo-denselesions in basal ganglia

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40
Q

What is the treatment for Wilson’s disease

A

Reduce copper intake
increase copper excretion (penicillamine)

fatal if untreated

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41
Q

What is the VATERAssociation

A

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

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42
Q

What are the risk factors for toxoplasmosis

A

Undercooked meat

infected cat feces

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43
Q

What are the signs and symptoms of toxoplasmosis

A 
Intracranial calcification
hydrocephalus
Courier retinitis/retinopathy
jaundice
hepatosplenomegaly

– infections early in the first trimester are less common but more serious

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44
Q

What is the treatment for toxoplasmosis

A

pyrimethamine

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45
Q

What is the treatment to a neonate born to hepatitis B positive mother

A

Infants should receive both hepatitis B immuno globulin and vaccine ASAP after delivery

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46
Q

What are the signs and symptoms of syphilis

A

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)

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47
Q

what are the steps to diagnose syphilis

A

VDRL, RPR for screening

FTA – ABS for confirmation

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48
Q

What is the treatment for syphilis

A

Penicillin

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49
Q

What are the signs and symptoms of the rubella infection

A 
IU GR
cataracts
mental retardation
microcephaly
cardiac defects (PDA, PS)
hepatosplenomegaly,
deafness,
blueberrymuffin rash
50
Q

What is the most common congenital infection

A

Cytomegalovirus

51
Q

What are the signs and symptoms of a cytomegalovirus infection

A 
IUGR
prematurity
petechiae from  thrombocytopenia
hepatosplenomegaly
jaundice
hearing loss
choreoretinitis
microcephaly
PERIVENTRICULAR calcification
52
Q

What are the complications associated with the cytomegalovirus infection

A

mental retardation
seizure
HEARING LOSS
visual defects

53
Q

What is a treatment for cytomegalovirus

A

Ganciclovir

54
Q

What are the signs and symptoms of a HSV congenital infection

A

Local (skin, eyes, mouth): 5–14 days

disseminated (liver and lungs): 5-7 days

CNS (lethargy, seizures): 3-4 weeks

55
Q

What is the treatment HSV

A

Acyclovir

56
Q

what is a cephalohematoma

A

Subperiosteal bleed: may not be present at birth

does not cross sutra lines

57
Q

What is caput succedaneum

A 
Scalp swelling (usually presenting part)
crosses suture lines
caused by pressure exerted during labor and delivery
58
Q

Define subcutaneous fat necrosis and defined the causes

A

Palpable rubbery firm nodules
associate with difficult labor and delivery including forceps or vacuum delivery
most resolve spontaneously

59
Q

What aretwo types of brachial nerve injury during labor and delivery

A

Erb Duchenne paralysis

Klumpkeparalysis

60
Q

What is the cause of presenting condition with an ErbDuchenne paralysis

A

C-5 C6: arms adducted and pronated with wrist and finger flexion (waiters tip)

61
Q

what is the cause and presenting condition with Klumpke’s paralysis

A

C7- T1: flexion and supination of the elbow with wrist extension finger flexion “claw hand”

may have ipsilateral Horner’s syndrome if are njured

62
Q

What the two types of facial nerve palsy

A 
Affected side of face does not move with cry
1. Peripheral:
– affected for head side does not move
2. Central:
– for headmovement is preserved
63
Q

What is the most commonly fractured bone during delivery

A

Clavicular

64
Q

What are the risk factors for clavicular fracture

A

Large babies

shoulder dystocia

65
Q

What are the signs and symptoms of clavicular fracture

A

Asymmetric more reflects (affected side won’t move)

healing callus may be palpated

66
Q

What is the treatment for neonatal conjunctivitiscaused by Chlamydia trachomatis

A

Oral erythromycin

use oral to prevent possible pneumonia

67
Q

How do you differentiate between Chlamydia trachomatis and gonococcus regarding time of onset

A

Chlamydia trachomatis occurs 5-14 days after delivery

gonococcus occurs 2 to 5 days after delivery

68
Q

What is the treatment for neonatal gonococcus conjunctivitis

A

Cefotaxime

69
Q

What is choanal atresia

A

Septum between the nose and the effects: associated with CHARGE syndrome

70
Q

What is CHARGE syndrome

A 
C – coloboma
H – heart disease
A – atresia choanae
R – retarded growth/development
G – genital anomalies (hypogonadism)
E – ear anomalies (deafness)
71
Q

The signs and symptoms of a choanal atresia

A

Bilateral obstruction may present as cyanosis relieved by crying (infants are obligate news breathers)

72
Q

What is the treatment for choanal atresia

A

Surgical correction

73
Q

What is the treatment for a cleft lip and cleft palate

A

Lip repaired shortly after birth

palates repaired 12 to 24 months after birth

74
Q

What is congenital torticollis

A

Injury to the sternocleidomastoid muscle during delivery, usually treated with stretching exercises

75
Q

What are branchial cleft cyst

A

Unilateral incomplete closure of the branchial clefts, can become infected

76
Q

What are thyroglossal duct cysts

A

Midline, moves when patient moves there tongue
painless
remove surgically

77
Q

What is a cystic hygroma

A

benign, multiloculated growth of lymphatic tissue

– seen inTurner syndrome

78
Q

What are the TORCH infections

A 
T – toxoplasmosis
O – other (syphilis, varicella)
R – rubella
C – CMV
H – HSV/HIV
79
Q

What is considered small for gestational age

A

Birth weight below the 3rd percentile

80
Q

What are the types of IUGR

A

Symmetric (weights, length, head circumference are equally affected)

asymmetric (sparing of head circumference)

81
Q

What are the causes of IUGR

A

Fetal: symmetric
– chromosomal/congenital disorders; TORCH infections

placental: asymmetric
– decreased weight, infarction, separation, twin-twin transfusion

maternal:
– toxemia, hypertension, malnutrition, tobacco, alcohol, narcotics

82
Q

Where the complications for small for gestational age

A

Fetal deaths, asphyxia, cold stress, hypoglycemia, polycythemia/hyper viscosity

83
Q

What are the most frequent drugs that are used during pregnancy that cause withdrawal in neonates

A

Heroin

methadone

84
Q

What are the signs and symptoms of neonatal abstinence syndrome

A 
Hyperactivity
irritability
fever
diarrhea
trimmers/jitters
high-pitched crying
sneezing
vomiting
nasals stuffiness
poor feeding
seizures
tachypnea
85
Q

What is the treatment for neonatal drug withdrawal

A

Narcotics (tincture of opium)
sedatives (phenobarbital)
reduction of noxious stimuli (calm, and dark, quiet environment)

86
Q

What is the timeframe for neonatal abstinence syndrome to set in for heroin or methadone

A

Heroine– 48 hours

methadone – 2 to 6 weeks

87
Q

what is the problem with cocaine exposure during pregnancy

A

Increased risk of preterm labor and placental abruption

complications include:
low birth weight
cerebral infarcts
intraventricular hemorrhage

88
Q

What is respiratory distress syndrome

A

Hyaline membrane disease

surfactant deficiency resulting in atelectasis and ventilation-perfusion mismatch
– almost exclusively in premature’s less than 30 weeks

89
Q

What is the signs and symptoms of respiratory distress syndrome

A 
Respiratory distress soon after birth
– tachypnea
– nasal flaring
– retractions
– cyanosis
– grunting
90
Q

What will a chest x-ray demonstrated for hyalinemembrane disease

A

ground glass

air bronchograms

91
Q

Discuss meconium aspiration

A

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

92
Q

What will a chest x-ray demonstrate for meconiu aspiration

A

Patchy infiltrates

– hyaline membrane disease will show ground-glass appearance
– transient tachypnea of the newborn will show luid

93
Q

What isthe complications associated with meconium aspiration

A

Persistent pulmonary hypertension
meconium pneumonitis can lead to persistent pulmonary hypertension
pneumonia

94
Q

what are the effects of persistent pulmonary hypertension

A

Hypoxia
shunting
high right-sided heart pressures
abnormally opened foramina ovale and ductus arteriosus

95
Q

What is the treatment for persistent pulmonary hypertension

A

Sedation and mechanical ventilation
Inhaled nitric oxide (pulmonary vasodilator)
ECMO (extra-corporeal membrane oxygenation)

96
Q

What is a diaphragmatic hernia

A

Failure of the diaphragm to develop which causes abdominal contents to enter the chest and will lead to pulmonary hypoplasia on affected side

97
Q

What are the signs and symptoms of the diaphragmatic hernia

A

Respiratory distress
scaphoid abdomen
bowel sounds in chest
associated with polihydramnios

98
Q

What should be avoided with a diaphragmatic hernia

A

Bag valve mask ventilation

99
Q

What is the treatment for a diaphragmatic hernia

A

Gastric decompression
intubation
surgical correction

100
Q

What is the most common type of Tracheoesophogeal fistula

A

85% have the atretic esophagus and fistula between trachea and distal esophagus

– allows air and stomach and small intestine
– abnormal development of forgot

101
Q

What are the signs and symptoms of the tracheoesophageal fistula

A 
Coughing, frothy or bubbly secretions
difficulty feeding
excessive saliva/drooling
choking with swallowing
associated with polyhydramnios
sinuses
102
Q

Discuss jaundice

A

Deposition of bilirubin in the skin

maybe physiologic or pathologic, conjugated or unconjugated

JAUNDICE in first 24 hours is always pathologic

103
Q

Discuss physiologic jaundice

A

Appears after first day, is unconjugated, and usually resolves by one week

related to immature function of glucoronyl transferase in newborns

104
Q

Discuss breast-feeding jaundice

A

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

105
Q

Discuss breast milk jaundice

A

Thought to be related to breast milk inhibiting glucoronyl transferase
all indirect
later, 1-2 weeks

106
Q

Discuss Rh and ABO incompatibility

A

– mom is Rh negative and baby is Rh positive

– type O blood from mother and infant is A, B, or AB

107
Q

Discuss biliary atresia

A

– 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

108
Q

What is the purpose of the coombs test

A

Test for ABO incompatibility

109
Q

What arethe complications of excess bilirubin

A

Unconjugated: neurotoxicity, kernicterus (choreoathetosis and hearing loss)

conjugated: liver failure if cause not corrected (biliary atresia)

110
Q

What are the causes for neonatal sepsis

A

Group B streptococcus
E. coli
Listeria

111
Q

What are the risk factors for neonatal sepsis

A

Maternal infection
prematurity
prolonged rupture of membranes

112
Q

What are the signs and symptoms of neonatal sepsis

A 
Crunching
tachypnea
cyanosis
poor feeding
irritability
apnea
bradycardia
tremors
seizures
113
Q

What is the treatment for neonatal sepsis

A

ampicillin and a third-generation cephalosporin

Ampicillin for listeria

third-generation cephalosporin/aminoglycoside for the rest

114
Q

What is thecause of an umbilical hernia

A

Incomplete closure of Foshee, associated with diastasis recti
usually close spontaneously by age 5

115
Q

What is omphalocele

A

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

116
Q

What is gastroschchisis

A

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

117
Q

What is the most, medical and surgical emergency and a newborn

A

Necrotizing enterocolitis
– 90% occur in preterm infants
– usually first two weeks of life and related to introduction of feeds

118
Q

What are the signs and symptoms of necrotizin enterocolitis

A

Bloody stools
apnea
lethargic
abdominal distention

119
Q

What will a abdominal x-ray demonstrate for necrotizingenterocolitis

A

Pneumotosis intestinalis, portal venous gas, intestinal perforation

120
Q

What is the treatment for necrotizing enterocolitis

A

Medical treatment: cessation of feeds, got decompression, systemic antibiotics, supportive care

surgical treatment: resected necrotic bowel

121
Q

Discuss a malrotation/volvulus

A

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

► Med Misc 06 (27 decks)

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