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Pediatrics > Congenital Disorders > Flashcards

Congenital Disorders Flashcards

1
Q

How can infections be transmitted from mom to fetus?

A

Placenta
Amniotic fluid
Vaginal canal

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2
Q

What do the first trimester infections affect?

A

Developing organ systems

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3
Q

Spectrum of Presentation of Congenital Infections

A 
Growth retardation
Premature delivery
CNS abnormalities
Hepatosplenomegaly
Bruising or petechiae
Skin lesions
Pneumonitis
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4
Q

What does TORCH stand for?

A 
Toxoplasmosis
Other (syphilis, HIV, parvovirus B-19, varicella, hepatitis, enterovirus)
Rubella
Cytomegalovirus
Herpes simplex
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5
Q

Where is toxoplasmosis found?

A

Cat feces
Raw/undercooked meat
Contaminated soil/water

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6
Q

Maternal Symptoms of Toxoplasmosis

A 
Nonspecific
Fatigue
Fever
Headache
Malaise
Myalgia
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7
Q

Neonate Symptoms of Toxoplasmosis

A 
Fever
Maculopapular rash
Hepatosplenomegaly
Microcephaly
Seizures
Jaundice
Thrombocytopenia
Generalized lymphadenopathy
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8
Q

Classic Triad of Congenital Toxoplasmosis

A

Chorioretinitis
Hydrocephalus
Intracranial calcifications

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9
Q

Primary Focus of Infection in the Neonate is

A

CNS

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10
Q

What is the CNS sign of Toxoplasmosis?

A

Calcified cystic lesions dispersed within the brain

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11
Q

Long Term Complications of Neonate Toxoplasmosis

A

Seizures
Mental retardation
Spasiticity
Relapsing chorioretinitis

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12
Q

Diagnostics of Toxoplasmosis

A

IgM anti-toxoplasma antibody at 20-26 weeks (mother)
Isolation of parasite in fetal blood or amniotic fluid
Postnatal: IgM antibodies in serum
Prenatal ultrasound

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13
Q

Findings on the Prenatal Ultrasound in Toxoplasmosis

A 
Symmetric ventricular dilation
Intracranial calcifications
Increased placental thickness
Hepatomegaly
Ascites
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14
Q

Labs for Toxoplasmosis May Show

A

Anemia
Thrombocytopenia
Eosinophilia
Abnormal CSF

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15
Q

Treatment for Toxoplasmosis

A

Pyrimethamine & sulfadiazine

Spiramycin

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16
Q

Other: HIV

A

Educate & address mother’s infection

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17
Q

Other: Enterovirus

A

Usually acquired around the time of birth, good prognosis

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18
Q

Other: Parvovirus B-19

A

Possible fetal hemolytic crisis associated

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19
Q

Other: Varicella

A

Perinatal exposure can be very severe

Immune globulin given if suspected

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20
Q

Other: Hepatitis

A

Type B

HBIG & vaccine if mom is positive

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21
Q

Other: Syphilis

A

Mom in primary or secondary stage transmission is nearly 100%

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22
Q

Syphilis Infection can Result in

A 
Stillbirth
Hydrops fetalis
Prematurity & associated long-term morbidity
Hepatomegaly
Edema
Thrombocytopenia
Anemia
Skeletal abnormalities, saddle nose deformity
Rash (maculopapular, vesicular)
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23
Q

When does transmission occur during pregnancy?

A

Second half of pregnancy

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24
Q

Early Symptoms of Congenital Syphilis

A 
Hepatosplenomegaly
Skin rash
Anemia
Jaundice
Metaphyseal dystrophy
Periostitis
CSF with increase protein & PMNs
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25
Q

Define Snuffles

A

Nasal obstruction

Initially clear drainage then purulent or sanguineous discharge

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26
Q

Treatment of Syphilis

A

Penicillin G

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27
Q

Syphilis Monitoring of Child

A

Vision changes
Hearing
Developmental abnormalities

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28
Q

When is high maternal to fetal transmission rate transmission?

A

Mother infected in first trimester

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29
Q

Clinical Manifestations of Congenital Rubella

A 
Deafness
Cataracts
Cardiac Malformations
Neurologic & Endocrinologic sequelae
Growth retardation
Radiolucent bone disease
Hepatosplenomegaly
Thrombocytopenia
Purpuric skin lesions
Hyperbilirubinemia
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30
Q

Diagnostics for Rubella

A

Increased anti-rubella IgM titer in perinatal period
Increased anti-rubella IgG titer in1st few years of life
Isolate virus from throat swab, CSF, or urine

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31
Q

Long Term Complications of Rubella

A 
Communication disorders
Hearing defects
Mental or motor retardation
Microcephaly
Learning deficits
Balance & gait distrubances
Behavioral problems
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32
Q

Treatment of Rubella

A

Prevention with vaccination

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33
Q

How is Cytomegalovirus (CMV) transmitted?

A

Saliva
Urine
Bodily fluids

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34
Q

Can CMV be transmitted to fetus if mother had infection previously?

A

Yes

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35
Q

CMV Symptoms

A 
Sensorineural hearing loss
Mental retardation
Retinal disease
Cerebral palsy
SGA
Microcephaly
Thrombocytopenia
Hepatosplenomegaly
Hepatitis
Intracranial calcifications
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36
Q

When is the most common time of transmission for herpes simplex?

A

Transit through the infected birth canal

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37
Q

Mortality Rate for Herpes Simplex

A

High

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38
Q

Treatment of Herpes Simplex

A

Acyclovir

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39
Q

Symptoms of Neonatal HSV

A 
Sepsis
Liver
Lungs
CNS (seizures, encephalopathy)
Skin, eyes, mouth
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40
Q

Clinical Manifestations of Congenital Varicella

A 
Cutaneous scars
Cataracts
Chorioretinitis
Micropthalmos
Nystagmus
Hypoplastic limbs
Cortical atrophy
Seizures
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41
Q

Workup for Perinatal Infections

A 
Review maternal hx
Physical stigmata consistent with various intrauterine infections
CBC, LFTs
Long bone X-rays
Opthalmologic evaluation
Audiologic evaluation
Neuroimaging
Lumbar Puncture
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42
Q

Which infections cause deafness at birth and later?

A

CMV

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43
Q

Which infections can be associated with thrombocytopenia and purport or petechiae?

A

Toxoplasmosis
Syphilis
Rubella
CMV

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44
Q

Which infections cause chorioretinitis and possible blindness?

A

Toxoplasmosis

Varicella

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45
Q

Maternal conditions that may cause birth defects

A 
Medication use
Metabolic disorders
Substance abuse
Mechanical forces
Toxins
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46
Q

Teratogens Maternal Medication Use

A 
ACEI
Anticonvulsant agents
Antineoplastic agents
Thalidomide, retinoid acid, methylene blue
Misoprostol, penicillamine, fluconazole
Lithium, isotrentinoin, acitrentin
Tetracycline, sulfa meds
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47
Q

Maternal Substance Use/Abuse that May Cause Birth Defects

A 
Alcohol
Illicit drugs
Inhaling paint, solvents
Tobacco
Caffeine
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48
Q

Cranio-facial Features Associated FAS that May Cause Birth Defects

A 
Skin folds at corner of eyes
Low nasal bridge
Short nose
Indistinct philtrum
Small head circumference
Small eye opening
Small mid face
Thin upper lip
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49
Q

Characteristics of Fetal Alcohol Syndrome that May Cause Birth Defects

A

Low IQ
Small for gestational age
Learning and behavioral difficulties
Facial dysmorphism

50
Q

Mechanical Forces that May Cause Congenital Defects

A 
Amniotic bands
Too much or too little amniotic fluid
Position of the fetus
Uterine fibroids
Placental issues
51
Q

Maternal Toxins that May Cause Birth Defects

A 
Mercery
Lead
Ionizing radiation
Carbon monoxide
Poor nutrition
52
Q

Types of Congenital Heart Defects

A 
Ventricular septal defect (VSD)
Atrial septal defect (ASD)
Patent ductus arteriosus (PDA)
Coarctation of the aorta
Tetralogy of Fallot
53
Q

Ventricular Septal Defects (VSD)

A

Opening between right and left ventricles

Degree of symptoms correlates with size of shunt

54
Q

VSD Symptoms

A

Fatigue
Diaphoresis with feedings
Poor growth
Pansystolic murmur

55
Q

Atrial Septal Defects (ASD)

A

Hole between atria
Blood flows left to right
Right heart becomes dilated

56
Q

Are ASDs Symptomatic?

A

Rarely

57
Q

Patent Ductus Arteriosus

A

Closes within 24 hours
Widened pulse pressure
Continuous machine like murmur
Close with prostaglandin inhibitors

58
Q

Risk Factors for PDA

A 
Prematurity
Other heart defects
High altitudes
Relative hypoxia
Maternal rubella infection
59
Q

Symptoms of Coarctation of the Aorta

A 
Poor feeding
Respiratory distress
Shock
Femoral pulses weak compared radial/bronchial pulses
Older children- claudication
60
Q

Treatment of Coarctation of the Aorta

A

Try to keep ductus arterioles open until surgery

61
Q

Tetrology of Fallot

A 
VSD
Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy
Right to left shunt
62
Q

Treatment of Tetrology of Fallot

A

Surgical repair at about 6 months

63
Q

Which congenital infection has elevated LFTs?

A

HSV

64
Q

Signs/Symptoms of Tetrology of Fallot

A 
Loud, harsh systolic murmur
Hypoxia
Cyanosis
Symptoms worsen after PDA closes
Tachypnea
Tet spells
65
Q

What is part of the Tet spells?

A 
Cyanosis worsens with crying
Toddlers will squat to relieve symptoms
May have syncope
Hemiparesis
Seizures
Death
66
Q

5 T’s of Cyanotic Congenital Heart Disease

A 
Tetralogy of Fallot
Transposition of the great arteries
Tricuspid atresia
Truncus arteriosus
Total anomalous pulmonary venous return
67
Q

Acyanotic Congenital Heart Disease

A 
PDA
VSD
ASD
Aortic stenosis
Pulmonary stenosis
Coarctation of the arorta
68
Q

Causes of a Cyanotic Newborn

A

Cardiopulmonary disease
Respiratory distress syndrome
Sepsis
Cyanotic heart disease

69
Q

Workup of a Cyanotic Newborn

A 
Chest X-ray
CBC
CMP
ABG's
Blood cultures
Echocardiogram
Involve supervising physician
70
Q

Chromosomal Disorders

A 
Down syndrome
Trisomy 13
Deletion 22q11
Turner syndrome XO
Klinefelter syndrome XXY
71
Q

Characteristics of Down Syndrome

A 
Low IQ
Normal size baby
Hypotonic
Brachycephaly
Flattened occiput
Hypoplastic midface
Flattened nasal bridge
Upslanting palpebral fissures
Epicanthal folds
Large protruding tongue
Short broad hands
Transverse palmar crease
Wide gap between 1st & 2nd toes
72
Q

Medical Problems Associated with Down Syndrome

A 
Congenital heart defects
GI tract abnormalities
Hypothyroidism
Increased risk of leukemia, infection, cataracts
Alantoaxial instability
>35 may develop Alzheimer's
73
Q

Goal of treating Down Syndrome

A

Help them to develop their full potential

74
Q

What are the best therapies for down syndrome children?

A

OT
ST
PT

75
Q

What do most Trisomy 13 children die from?

A

Heart failure

Infection in infancy

76
Q

Characteristics of Trisomy 13

A

Dysmorphic features and complications

Developmental retardation

77
Q

What syndromes are associated with Deletion 22q11?

A 
Velocardiofacial syndrome
Conotruncal anomaly
face syndrome
Shprintzen syndrome
DiGeorge syndrome
CATCH 22
78
Q

What comorbidities does deletion 22q11 syndrome commonly have?

A

Congenital heart disease

Cleft palate

79
Q

Clinical Manifestations of Deletion 22q11 Syndrome

A

Neonatal hypocalcemia
Increased infections
Predisposition to autoimmune diseases
Learning difficulties

80
Q

Comorbidity Risks for Turner Syndrome (XO)

A

Renal anomalies
Congenital heart defect
Autoimmune thyroiditis

81
Q

Dysmorphic Features of Turner Syndrome (XO)

A 
Lymphedema
Webbing of the neck
Short Stature
Multiple pigmented nevi
Gonadal dysgenesis
82
Q

Treatment of Turner Syndrome (XO)

A

Estrogen replacement therapy

Growth hormone therapy

83
Q

Long Term Effects of Turner syndrome

A

Hearing loss
Hypothyroidism
Liver function

84
Q

Dysmorphic Features of Klinefelter Syndrome (XXY)

A

Taller stature/wider arm span
Small testes/ decreased testosterone/ decreased spermatogenesis
incomplete masculinization/ decreased body hair
Female habits/ gynecomastia

85
Q

Clinical Features of Klinefelter Syndrome (XXY)

A

Immaturity
Normal to borderline low IQ
Some severe mental retardation
Behavioral problems

86
Q

Treatment of Klinefelter Syndrome (XXY)

A

Testosterone replacement therapy

87
Q

Symptoms of Klinefelter Syndrome (XXY)

A 
Frontal baldness absent
Grow fewer chest hairs
Breast development
Female-type pubic hair
Small testicular size
Poor beard growth
Narrow shoulders
Wide hips
Long arms/legs
88
Q

Define Fragile X Syndrome

A

Mutation of DNA that codes for a protein helps play a role in the development of synapses

89
Q

Clinical Features of Fragile X Syndromes

A

Mental retardation
Oblong face with large ears
Large testicles
Autistic like behavior

90
Q

Symptoms of Fragile X Syndrome

A 
Normal structure
Broad forehead
Elongated face
Large prominent ears
Strabismus
Highly arched palate
Hyperextensible joints
Hand calluses
Pectus excavatum
Mitral valve prolapse
Enlarge testicles
Hypotonia
Soft, fleshy skin
Flat feet
Seizures
91
Q

Other Genetic Disorders

A

Cystic Fibrosis
Marfan’s syndrome
Phenylketonuria
Galactosemia

92
Q

What is Marfan’s Syndrome Caused by?

A

A mutation in the FBN1 gene that determines the structure of fibrillin

93
Q

What is Fibrillin?

A

Protein that is an important part of CT and elastic fibers which affect multiple parts of the body such as bones, joints, eyes, blood vessels, and heart

94
Q

Marfan Symptoms

A 
Muscle weakness of the legs
Increase risk of hernia & spontaneous pneumothorax
Lens dislocation
Ascending aortic aneurysm
Aortic valve disease
Vascular dissection
Flat feet
Scoliosis
Long, skinny fingers & toes
Stretch marks
Loose/hyperflexible joints
Tall, thin stature
95
Q

Cardinal Features of Marfan’s Syndrome

A

Aortic root aneurysm

Ectopia lentis

96
Q

Treatment of Marfan’s Syndrome

A

Beta blockers
ARB
Control symptoms from valvular disease

97
Q

How do you diagnose Marfan’s Syndrome?

A

Aortic root aneurysm
Ectopia lentis
Genetic testing

98
Q

Clinical Presentation of Phenylketonuria (PKU)

A 
Asymptomatic in early infancy
Hypopigmentation
Tremors
Hypertonicity
Behavioral disorders
Seizures
Severe mental retardation
99
Q

Treatment of Phenylketonuria (PKU)

A

Dietary restrictions for life
Avoid aspartame
Supplementation of tyrosine & other deficient nutrients

100
Q

Foods that are high in Phenylalanine

A 
Red meat
Chicken
Fish
Eggs
Nuts
Cheese
Legumes
Milk
Other dairy products
101
Q

Define Galactosemia

A

Deficiency of galactose-1-phosphate uridyltransferase leading to buildup of unmetabolized galactose

102
Q

Clinical Presentation of Galactosemia

A 
Days to weeks of birth
Heptomegaly
Vomiting, anorexia
Failure to thrive
Aminoaciduria
103
Q

Treatment of Galactosemia

A

Eliminate galactose from diet

104
Q

Untreated Prognosis of Galactosemia

A

Death
Mental retardation
Growth retardation
Cataracts

105
Q

Risk Factors for Neural Tube Defects

A 
Maternal age (teens, older women)
Maternal health (meds, DM, nutrition)
106
Q

Two Types of Neural Tube Defects

A

Anencephaly

Meningomyelocele (spinal bifida)

107
Q

Prevention of Neural Tube Defects

A

Prenatal folic acid supplementation

108
Q

Define Orofacial Clefts

A

Cleft lip with/without cleft palate

Males > female

109
Q

Define Cerebral Palsy

A

Static encephalopathy

110
Q

Define Encephalopathy

A

Brain injury that is non-progressive disorder of posture and movement

111
Q

Cerebral Palsy Associated with

A

Epilepsy
Speech problems
Vision compromise
Cognitive dysfunction

112
Q

Prenatal Etiology of Cerebral Palsy

A 
Infection
Anoxia
Toxic
Vascular
Rh disease
Genetic
Congenital malformation of brain
113
Q

Natal Etiology of Cerebral Palsy

A

Anoxia
Traumatic delivery
Metabolic

114
Q

Postnatal Etiology of Cerebral Palsy

A

Trauma
Infection
Stroke

115
Q

Clinical Features of Cerebral Palsy

A 
Muscle spasticity
Dyskinesia
Ataxia
Epilepsy
Mental retardation
Learning disabilities
Behavior problems
Strabismus
116
Q

Define Dyskinesia

A

Defect in the ability to perform voluntary movement

117
Q

Define Ataxia

A

Defective muscle coordination especially manifested when voluntary movements attempted

118
Q

Complications of Cerebral Palsy

A 
Spasticity
Weakness
Increase reflexes
Clonus
Seizures
Articulation & swallowing difficulty
Visual compromise
Deformation
Hip dislocation
Kyphoscoliosis
Constipation
UTI
119
Q

Cerebral Palsy Management

A 
Refer to Neuro, physical medicine, & rehab
OT
PT
Speech
Adaptive equipment
120
Q

Screening for Neonatal Congenital Disorders

A 
Maternal medical, surgical, social, family history
Amniocentesis
Quad screen
Fetal ultrasound
Newborn disease screening
TORCH screening

Pediatrics (23 decks)

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