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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
Define Snuffles
Nasal obstruction | Initially clear drainage then purulent or sanguineous discharge
26
Treatment of Syphilis
Penicillin G
27
Syphilis Monitoring of Child
Vision changes Hearing Developmental abnormalities
28
When is high maternal to fetal transmission rate transmission?
Mother infected in first trimester
29
Clinical Manifestations of Congenital Rubella
``` Deafness Cataracts Cardiac Malformations Neurologic & Endocrinologic sequelae Growth retardation Radiolucent bone disease Hepatosplenomegaly Thrombocytopenia Purpuric skin lesions Hyperbilirubinemia ```
30
Diagnostics for Rubella
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
31
Long Term Complications of Rubella
``` Communication disorders Hearing defects Mental or motor retardation Microcephaly Learning deficits Balance & gait distrubances Behavioral problems ```
32
Treatment of Rubella
Prevention with vaccination
33
How is Cytomegalovirus (CMV) transmitted?
Saliva Urine Bodily fluids
34
Can CMV be transmitted to fetus if mother had infection previously?
Yes
35
CMV Symptoms
``` Sensorineural hearing loss Mental retardation Retinal disease Cerebral palsy SGA Microcephaly Thrombocytopenia Hepatosplenomegaly Hepatitis Intracranial calcifications ```
36
When is the most common time of transmission for herpes simplex?
Transit through the infected birth canal
37
Mortality Rate for Herpes Simplex
High
38
Treatment of Herpes Simplex
Acyclovir
39
Symptoms of Neonatal HSV
``` Sepsis Liver Lungs CNS (seizures, encephalopathy) Skin, eyes, mouth ```
40
Clinical Manifestations of Congenital Varicella
``` Cutaneous scars Cataracts Chorioretinitis Micropthalmos Nystagmus Hypoplastic limbs Cortical atrophy Seizures ```
41
Workup for Perinatal Infections
``` Review maternal hx Physical stigmata consistent with various intrauterine infections CBC, LFTs Long bone X-rays Opthalmologic evaluation Audiologic evaluation Neuroimaging Lumbar Puncture ```
42
Which infections cause deafness at birth and later?
CMV
43
Which infections can be associated with thrombocytopenia and purport or petechiae?
Toxoplasmosis Syphilis Rubella CMV
44
Which infections cause chorioretinitis and possible blindness?
Toxoplasmosis | Varicella
45
Maternal conditions that may cause birth defects
``` Medication use Metabolic disorders Substance abuse Mechanical forces Toxins ```
46
Teratogens Maternal Medication Use
``` ACEI Anticonvulsant agents Antineoplastic agents Thalidomide, retinoid acid, methylene blue Misoprostol, penicillamine, fluconazole Lithium, isotrentinoin, acitrentin Tetracycline, sulfa meds ```
47
Maternal Substance Use/Abuse that May Cause Birth Defects
``` Alcohol Illicit drugs Inhaling paint, solvents Tobacco Caffeine ```
48
Cranio-facial Features Associated FAS that May Cause Birth Defects
``` 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 ```
49
Characteristics of Fetal Alcohol Syndrome that May Cause Birth Defects
Low IQ Small for gestational age Learning and behavioral difficulties Facial dysmorphism
50
Mechanical Forces that May Cause Congenital Defects
``` Amniotic bands Too much or too little amniotic fluid Position of the fetus Uterine fibroids Placental issues ```
51
Maternal Toxins that May Cause Birth Defects
``` Mercery Lead Ionizing radiation Carbon monoxide Poor nutrition ```
52
Types of Congenital Heart Defects
``` Ventricular septal defect (VSD) Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Coarctation of the aorta Tetralogy of Fallot ```
53
Ventricular Septal Defects (VSD)
Opening between right and left ventricles | Degree of symptoms correlates with size of shunt
54
VSD Symptoms
Fatigue Diaphoresis with feedings Poor growth Pansystolic murmur
55
Atrial Septal Defects (ASD)
Hole between atria Blood flows left to right Right heart becomes dilated
56
Are ASDs Symptomatic?
Rarely
57
Patent Ductus Arteriosus
Closes within 24 hours Widened pulse pressure Continuous machine like murmur Close with prostaglandin inhibitors
58
Risk Factors for PDA
``` Prematurity Other heart defects High altitudes Relative hypoxia Maternal rubella infection ```
59
Symptoms of Coarctation of the Aorta
``` Poor feeding Respiratory distress Shock Femoral pulses weak compared radial/bronchial pulses Older children- claudication ```
60
Treatment of Coarctation of the Aorta
Try to keep ductus arterioles open until surgery
61
Tetrology of Fallot
``` VSD Pulmonary stenosis Overriding aorta Right ventricular hypertrophy Right to left shunt ```
62
Treatment of Tetrology of Fallot
Surgical repair at about 6 months
63
Which congenital infection has elevated LFTs?
HSV
64
Signs/Symptoms of Tetrology of Fallot
``` Loud, harsh systolic murmur Hypoxia Cyanosis Symptoms worsen after PDA closes Tachypnea Tet spells ```
65
What is part of the Tet spells?
``` Cyanosis worsens with crying Toddlers will squat to relieve symptoms May have syncope Hemiparesis Seizures Death ```
66
5 T's of Cyanotic Congenital Heart Disease
``` Tetralogy of Fallot Transposition of the great arteries Tricuspid atresia Truncus arteriosus Total anomalous pulmonary venous return ```
67
Acyanotic Congenital Heart Disease
``` PDA VSD ASD Aortic stenosis Pulmonary stenosis Coarctation of the arorta ```
68
Causes of a Cyanotic Newborn
Cardiopulmonary disease Respiratory distress syndrome Sepsis Cyanotic heart disease
69
Workup of a Cyanotic Newborn
``` Chest X-ray CBC CMP ABG's Blood cultures Echocardiogram Involve supervising physician ```
70
Chromosomal Disorders
``` Down syndrome Trisomy 13 Deletion 22q11 Turner syndrome XO Klinefelter syndrome XXY ```
71
Characteristics of Down Syndrome
``` 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
Medical Problems Associated with Down Syndrome
``` Congenital heart defects GI tract abnormalities Hypothyroidism Increased risk of leukemia, infection, cataracts Alantoaxial instability >35 may develop Alzheimer's ```
73
Goal of treating Down Syndrome
Help them to develop their full potential
74
What are the best therapies for down syndrome children?
OT ST PT
75
What do most Trisomy 13 children die from?
Heart failure | Infection in infancy
76
Characteristics of Trisomy 13
Dysmorphic features and complications | Developmental retardation
77
What syndromes are associated with Deletion 22q11?
``` Velocardiofacial syndrome Conotruncal anomaly face syndrome Shprintzen syndrome DiGeorge syndrome CATCH 22 ```
78
What comorbidities does deletion 22q11 syndrome commonly have?
Congenital heart disease | Cleft palate
79
Clinical Manifestations of Deletion 22q11 Syndrome
Neonatal hypocalcemia Increased infections Predisposition to autoimmune diseases Learning difficulties
80
Comorbidity Risks for Turner Syndrome (XO)
Renal anomalies Congenital heart defect Autoimmune thyroiditis
81
Dysmorphic Features of Turner Syndrome (XO)
``` Lymphedema Webbing of the neck Short Stature Multiple pigmented nevi Gonadal dysgenesis ```
82
Treatment of Turner Syndrome (XO)
Estrogen replacement therapy | Growth hormone therapy
83
Long Term Effects of Turner syndrome
Hearing loss Hypothyroidism Liver function
84
Dysmorphic Features of Klinefelter Syndrome (XXY)
Taller stature/wider arm span Small testes/ decreased testosterone/ decreased spermatogenesis incomplete masculinization/ decreased body hair Female habits/ gynecomastia
85
Clinical Features of Klinefelter Syndrome (XXY)
Immaturity Normal to borderline low IQ Some severe mental retardation Behavioral problems
86
Treatment of Klinefelter Syndrome (XXY)
Testosterone replacement therapy
87
Symptoms of Klinefelter Syndrome (XXY)
``` 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
Define Fragile X Syndrome
Mutation of DNA that codes for a protein helps play a role in the development of synapses
89
Clinical Features of Fragile X Syndromes
Mental retardation Oblong face with large ears Large testicles Autistic like behavior
90
Symptoms of Fragile X Syndrome
``` 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
Other Genetic Disorders
Cystic Fibrosis Marfan's syndrome Phenylketonuria Galactosemia
92
What is Marfan's Syndrome Caused by?
A mutation in the FBN1 gene that determines the structure of fibrillin
93
What is Fibrillin?
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
Marfan Symptoms
``` 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
Cardinal Features of Marfan's Syndrome
Aortic root aneurysm | Ectopia lentis
96
Treatment of Marfan's Syndrome
Beta blockers ARB Control symptoms from valvular disease
97
How do you diagnose Marfan's Syndrome?
Aortic root aneurysm Ectopia lentis Genetic testing
98
Clinical Presentation of Phenylketonuria (PKU)
``` Asymptomatic in early infancy Hypopigmentation Tremors Hypertonicity Behavioral disorders Seizures Severe mental retardation ```
99
Treatment of Phenylketonuria (PKU)
Dietary restrictions for life Avoid aspartame Supplementation of tyrosine & other deficient nutrients
100
Foods that are high in Phenylalanine
``` Red meat Chicken Fish Eggs Nuts Cheese Legumes Milk Other dairy products ```
101
Define Galactosemia
Deficiency of galactose-1-phosphate uridyltransferase leading to buildup of unmetabolized galactose
102
Clinical Presentation of Galactosemia
``` Days to weeks of birth Heptomegaly Vomiting, anorexia Failure to thrive Aminoaciduria ```
103
Treatment of Galactosemia
Eliminate galactose from diet
104
Untreated Prognosis of Galactosemia
Death Mental retardation Growth retardation Cataracts
105
Risk Factors for Neural Tube Defects
``` Maternal age (teens, older women) Maternal health (meds, DM, nutrition) ```
106
Two Types of Neural Tube Defects
Anencephaly | Meningomyelocele (spinal bifida)
107
Prevention of Neural Tube Defects
Prenatal folic acid supplementation
108
Define Orofacial Clefts
Cleft lip with/without cleft palate | Males > female
109
Define Cerebral Palsy
Static encephalopathy
110
Define Encephalopathy
Brain injury that is non-progressive disorder of posture and movement
111
Cerebral Palsy Associated with
Epilepsy Speech problems Vision compromise Cognitive dysfunction
112
Prenatal Etiology of Cerebral Palsy
``` Infection Anoxia Toxic Vascular Rh disease Genetic Congenital malformation of brain ```
113
Natal Etiology of Cerebral Palsy
Anoxia Traumatic delivery Metabolic
114
Postnatal Etiology of Cerebral Palsy
Trauma Infection Stroke
115
Clinical Features of Cerebral Palsy
``` Muscle spasticity Dyskinesia Ataxia Epilepsy Mental retardation Learning disabilities Behavior problems Strabismus ```
116
Define Dyskinesia
Defect in the ability to perform voluntary movement
117
Define Ataxia
Defective muscle coordination especially manifested when voluntary movements attempted
118
Complications of Cerebral Palsy
``` Spasticity Weakness Increase reflexes Clonus Seizures Articulation & swallowing difficulty Visual compromise Deformation Hip dislocation Kyphoscoliosis Constipation UTI ```
119
Cerebral Palsy Management
``` Refer to Neuro, physical medicine, & rehab OT PT Speech Adaptive equipment ```
120
Screening for Neonatal Congenital Disorders
``` Maternal medical, surgical, social, family history Amniocentesis Quad screen Fetal ultrasound Newborn disease screening TORCH screening ```

Pediatrics (23 decks)

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