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Congenital Disorders Flashcards

1
Q

Congenital infections may occur at any time during pregnancy, labor and delivery

  1. Transmission? 3
  2. First Trimester infections affect what?
  3. Where do we find them?
  4. What is the key to this?
A 
1. Transmission
Through 
-placenta, 
-amniotic fluid, 
-vaginal canal
  1. First trimester infections
    Affect virtually any of the developing organ systems
  2. Find symmetrically growth restricted infants
  3. Prevention with prenatal care of the mom is key
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2
Q

Congenital infections have a broad spectrum of presentation

7

A
  1. Growth retardation
  2. Premature delivery
  3. CNS abnormalities
  4. Hepatosplenomegaly
    - Can have accompanying jaundice
  5. Bruising or petechiae
  6. Skin lesions
  7. Pneumonitis
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3
Q
  1. What CNS abnormalities can be caused by congential infections? 4
  2. Bruising and petechiae can occur from what? 2
A
    • Microcephaly,
    • intracranial calcifications,
    • chorioretinitis,
    • hydrocephaly
    • Thrombocytopenia,
    • hemolytic anemia
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4
Q

What is the TORCH concept?

5

A
  1. Toxoplasmosis
  2. Other (syphilis, HIV, Parvovirus B-19, varicella, hepatitis, enterovirus)
  3. Rubella
  4. Cytomegalovirus
  5. Herpes simplex
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5
Q

Toxoplasmosis

  1. Caused by what bug?
  2. Found where? 3
  3. Maternal symptoms? 5
  4. Symptoms in neonates? 8
A
  1. Toxoplasma gondii
  2. Found in
    - cat feces,
    - raw or undercooked meat,
    - contaminated soil or water
  3. Maternal symptoms: nonspecific, such as
    - fatigue,
    - fever,
    - headache,
    - malaise, and
    - myalgia
  4. Symptoms in neonates:
    - fever,
    - maculopapular rash,
    - hepatosplenomegaly,
    - microcephaly,
    - seizures,
    - jaundice,
    - thrombocytopenia, and,
    - rarely, generalized lymphadenopathy
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6
Q

Classic triad of congenital toxoplasmosis consists of what?

3

A
  1. chorioretinitis,
  2. hydrocephalus, and
  3. intracranial calcifications
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7
Q

Toxoplasmosis in the neonate; primary focus where?

A

Primary focus of infection is the CNS

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8
Q
  1. Toxoplasmosis in the neonate:
    Primary focus of infection is the CNS. Describe the findings.
  2. Long term complications? 4
A
  1. Necrotic, calcified cystic lesions dispersed within the brain (can find similar lesions in the liver, lungs, heart, skeletal muscle, spleen
  2. Long term complications
    - Seizures,
    - mental retardation,
    - spasticity,
    - relapsing chorioretinitis
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9
Q

Toxoplasmosis

  1. What is the most common presentation of toxo?
  2. Diagnosis? 4
  3. Labs? 4
  4. Treatment? 2
A
  1. 85% are asymptomatic
  2. Diagnosis
    - IgM anti-toxoplasma antibody at 20-26 weeks (mother)
    - Isolation of the parasite in fetal blood or amniotic fluid
    - Postnatal: IgM antibodies in the serum
    - Prenatal ultrasound
  3. Labs may show:
    - anemia,
    - thrombocytopenia,
    - eosinophilia,
    - abnormal CSF
  4. Treatment
    - Pyrimethamine & sulfadiazine or
    - Spiramycin
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10
Q

What would you see on the prenatal ultrasound for toxo?

5

A
  1. Symmetric ventricular dilation, 2. intracranial calfications,
  2. increased placental thickness, 4. hepatomegaly,
  3. ascites
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11
Q

OTHER
What are the other diseases that can cause congenital defects?
6

A
  1. HIV
  2. Enterovirus
  3. Parvovirus B-19
  4. Varicella
  5. Hepatitis
  6. Syphilis
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12
Q

OTHER

  1. HIV: How should we manage?
  2. Enterovirus: Usually acquired when and whats the prognosis?
  3. Parvovirus B-19: What is associated?
  4. Varicella: Prognosis and treatment?
  5. Hepatitis: Treatment? 3
  6. Syphilis: Prognosis?
A
  1. HIV – educate and address mother’s infection
  2. Enterovirus – usually acquired around the time of birth, good prognosis
  3. Parvovirus B-19 – possible fetal hemolytic crisis associated
  4. Varicella – perinatal exposure can be very severe, immune globulin given if suspected
  5. Hepatitis –
    - Type B,
    - HBIG
    - vaccine if mom +
  6. Syphilis – if mom in primary or secondary stage transmission is nearly 100
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13
Q

Syphillis:
What bug?
Infection can result in? 9

A

Treponema pallidum

Infection can result in

  1. Stillbirth
  2. Hydrops fetalis
  3. Prematurity and associated long-term morbidity
  4. Hepatomegaly
  5. Edema
  6. Thrombocytopenia
  7. Anemia
  8. Skeletal abnormalities, saddle nose deformity
  9. Rash (maculopapular, vesicular)
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14
Q

Syphilis:

  1. Transplacental infection generally occurs in __________of pregnancy
  2. If mother has what infection there is a high risk for transmission to the fetus?
  3. Half of infected infants are what?
  4. Early symptoms? 8
A
  1. second half
  2. primary or secondary
  3. symptomatic
    • hepatosplenomegaly,
    • skin rash,
    • anemia,
    • jaundice,
    • metaphyseal dystrophy,
    • periostitis,
    • CSF with increased prot.
    • and PMNs
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15
Q

Congenital syphilis manifestations

  1. Infantile?4
  2. Childhood? 3
A
  1. Rash
  2. Osteochondritis
  3. Periostitis
  4. Liver and lung fibrosis
  5. Interstitial keratitis
  6. Hutchinson teeth
  7. 8th nerve deafness
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16
Q

Children that dont have classic syphilis symptoms may have what?

A

Snuffles:

-nasal obstruction, intially clear drainage then purulent or sanguineous discharge

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17
Q
  1. DX of syphilis?
  2. treatment?
  3. Monitor? 3
A
  1. DX: IgM FTA-ABS (fluorescent treponemal antibody absorption) in newborn blood
    Not always positive at first, recheck in 3-4 weeks
  2. TX: PCN G
  3. Monitor for
    - vision changes,
    - hearing,
    - developmental abnormalities
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18
Q

Rubella: Describe the transmission rate from mother to child?

A

High maternal to fetal transmission rate if infected in the first trimester

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19
Q

Clinical manifestations of congenital rubella

A

Deafness, cataracts, cardiac malformations (eg, patent ductus arteriosus, pulmonary artery hypoplasia), and neurologic and endocrinologic sequelae

Growth retardation (small for gestational age), radiolucent bone disease, hepatosplenomegaly, thrombocytopenia, purpuric skin lesions (classically described as “blueberry muffin”**** lesions that represent extramedullary hematopoiesis), hyperbilirubinemia

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20
Q
  1. Diagnosis of Rubella? 3
  2. Long term complications? 7
  3. Treatment?
A
  1. Diagnosis
    - Increased anti-rubella IgM titer in perinatal period
    - Increased anti-rubella IgG titer in the 1st few years of life
    - Isolate virus from throat swab, CSF or urine
  2. Long term complications
    - Communication disorders,
    - hearing defects,
    - mental or motor retardation,
    - microcephaly,
    - learning deficits,
    - balance and gait disturbances,
    - behavioral problems
  3. Only treatment is prevention with vaccination
    (MMMMMaybe an antiviral like gangcyclovir)
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21
Q

What is the most common congenital viral infection?

A

CMV

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22
Q

How is CMV transmitted?

3

A

Transmitted by

  • saliva,
  • urine or
  • bodily fluids
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23
Q

CMV
1. Can be transmitted to the fetus even if maternal infection occurred when?

  1. If transmitted from a newly acquired maternal infection how does this change the prognosis?
A
  1. prior to conception secondary to virus reactivation (not having an active infection but has had one)
  2. increased severity of infection and worse prognosis
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24
Q

CMV is the leading cause of what?

A

sensorineural hearing loss!!

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25
Q

What are other CMV symptoms?

8

A
  1. mental retardation,
  2. retinal disease and cerebral palsy.
  3. Small for gestational age,
  4. microcephaly,
  5. thrombocytopenia,
  6. hepatosplenomegaly,
  7. hepatitis,
  8. intracranial calcifications,
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26
Q

Herpes Simplex

  1. Most commonly acquired when?
  2. Transmisisn is more likely when?
  3. What is often performed to prevent transmission?
  4. Treatment?
  5. Prognosis?
A
  1. Most commonly acquired at the time of birth during transit through the infected birth canal
  2. Transmission more likely if mom is having primary outbreak
  3. Cesarean section often performed to prevent transmission
  4. Treatment with acyclovir
  5. Mortality rate high
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27
Q

More than 75% of infants who acquire HSV infection are born to mothers with what kind of history?

A

no previous history or clinical findings consistent with HSV infection

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28
Q

Symptoms of neonatal HSV:

  1. Disseminated? 3
  2. Localized? 4
  3. Treatment?
A
  1. Disseminated disease
    - sepsis
    - Liver (elevated liver enzymes)
    - lungs
  2. Localized
    - CNS (seizures, encephalopathy)
    - Skin,
    - eyes,
    - mouth
  3. Treatment
    Acyclovir
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29
Q

Congenital Varicella: Clinical manifestations?

8

A
  1. Cutaneous scars
  2. Cataracts
  3. Chorioretinitis
  4. Micropthalmos
  5. Nystagmus
  6. Hypoplastic limbs
  7. Cortical atrophy
  8. Seizures
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30
Q

Work up for perinatal infections

9

A
  1. Review maternal history
  2. Assessment of physical stigmata consistent with various intrauterine infections
  3. CBC,
  4. LFTs
  5. Long bone X-rays
  6. Ophthalmologic evaluation
  7. Audiologic evaluation
  8. Neuroimaging
  9. Lumbar puncture
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31
Q

Congenital infections summary

  1. Many are asymptomatic at birth. Which ones? 4
  2. Always maintain a high index of suspicion for congenital infections as they can be associated with what?
A
    • toxoplasmosis,
    • syphilis,
    • CMV,
    • HSV
  2. significant long term morbidity.
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32
Q
  1. Which infections cause deafness at birth and later? 5
  2. Which infections can be associated with thrombocytopenia and purpura or petechiae? 4
  3. Which infection has elevated LFTs? 6
  4. Which infections cause chorioretinitis and possible blindness? 5
A

1.

  • Toxoplasmosis ,
  • Syphilis,
  • Rubella (German Measles),
  • Cytomegalovirus
  • Herpes
    • Rubella
    • CMV
    • Toxo
    • Syphilis

3.

  • toxo
  • hepatitis
  • syphilis
  • CMV
  • rubella
  • HSV
    • Varicella
    • toxo
    • CMV- retinal disease
    • HSV- can affect eyes
    • Rubella - cataracts
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33
Q

Maternal conditions that may cause birth defects

5

A
  1. Medication use
  2. Metabolic disorders
  3. Substance abuse
  4. Mechanical forces
    .5 Toxins
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34
Q

Maternal Medication use
( Some Teratogens) that can cause defects?
7

A
  1. ACEI
  2. Anticonvulsant agents
  3. Antineoplastic agents
  4. Thalidomide, retinoic acid, methylene blue
  5. Misoprostol, penicillamine, fluconazole
  6. Lithium, isotrentinoin, acitrentin
  7. Tetracycline, sulfa meds
    Many others…..
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35
Q

Maternal medical disorders that can cause birth defects. Also state what they cause.
8

A
  1. Diabetes- big babies!
  2. PKU- delayed development, poor head growth, heart defects, intellectual developmental delay
  3. Androgen producing tumors of adrenal glands or ovaries- affects baby growth
  4. Systemic lupus erythematosus- at risk for going into preterm laber if they can get past the 1st trimester
  5. Obesity- gestational diabetes, HTN, Pre-eclampsia, and preterm labor
  6. Fever- stillborn if over 103
  7. Hypertension- decreased blood flow and lead to SGA kids
  8. Hypothyroidism- as long as the pt is treated the baby will be fine. If not there will be developmental delay.
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36
Q

Maternal substance use/abuse

5

A
  1. Alcohol
  2. Illicit drugs
  3. Inhaling paint, solvents
  4. Tobacco
  5. Caffeine (a little is ok)
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37
Q

Craniofacial features associated with fetal alcohol syndrome?
8

A
  1. skin folds at the corner of the eyes
  2. Low nasal bridge
  3. Short nose
  4. Indistinct groove b/w nose and upper lip
  5. small head circumference
  6. small eye opening
  7. small midface
  8. thin upper lip
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38
Q

Fetal alcohol syndrome: Clinical manifestations?

A
  1. Low IQ
  2. Small for gestational age
  3. Learning and behavioral difficulties
  4. Facial dysmorphism
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39
Q

Mechanical forces that may cause congenital defects

5

A
  1. Amniotic bands
  2. Too much or too little amniotic fluid
  3. Position of the fetus
  4. Uterine fibroids
  5. Placental issues
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40
Q

Maternal toxins

5

A
  1. Mercury
  2. Lead
  3. Ionizing radiation
  4. Carbon monoxide
  5. Poor nutrition
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41
Q

Congenital heart defects (a few of the many)

5

A
  1. Ventricular septal defect (VSD)
  2. Atrial septal defect (ASD)
  3. Patent ductus arteriosus (PDA)
  4. Coarctation of the aorta
  5. Tetralogy of Fallot
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42
Q

VSD

  1. Is what percent of all congenital heart defects?
  2. Where is the opening?
  3. Progression?
  4. Degree of symptoms correlates with what?
A
  1. 25% of all congenital heart defects
  2. Opening between the right and left ventricles
  3. Some close spontaneously, others need patching
  4. Degree of symptoms correlates with size of the shunt
43
Q

VSD symptoms

5

A
  1. Fatigue
  2. Diaphoresis with feedings
  3. Poor growth
  4. Pansystolic murmur
  5. May not be symptomatic at birth due to normally elevated pulmonary vascular resistance but as the PAP decreases, the amount of left to right shunt increases
44
Q

ASD

  1. Where is the opening located?
  2. Blood flow where?
  3. Can be caused by?
  4. The right heart becomes what?
A
  1. Hole between the two atria
  2. Blood flows left to right
  3. Can be caused by a PFO – Patent foramen ovale
  4. Right heart becomes dilated
45
Q

Infants and children are rarely symptomatic with ASDs

  1. What kind of murmer?
  2. Abnormal heart sounds?
  3. Treatment?
A
  1. Soft systolic ejection murmur
  2. Fixed split S2
  3. Larger shunts need to be closed if still present around 3 years of age
46
Q

PDA

  1. Where is the hole and what does it allow?
  2. The vessel normally closed when?
  3. Failure to close results in what?
A
  1. Ductus arteriosus allows blood to flow from the PA to the AO during fetal life
  2. This vessel normally closes within the first 24h after birth
  3. Failure to close results in a patent ductus arteriosus
47
Q

PDA

  1. What does it cause?
  2. What kind of murmur?
  3. How can we close it?
A
  1. Widened pulse pressure
  2. Continuous machine like murmur that can be heard over the left side of the back as well
  3. Closure with prostaglandin inhibitors such as indomethacin or with catheter based methods by coiling or using a closure device
48
Q

Risk factors for PDA

5

A
  1. Prematurity
  2. Other heart defects
  3. High altitudes > 10,000 ft
  4. Relative hypoxia (causing increased pulmonary vascular resistance)
  5. Maternal rubella infection
49
Q

Coarction of the aorta main clinical manifestation?

2

A
  1. High blood pressure before point of coarction

2. Low blood pressure beyond point of coarctation

50
Q

Coarctation of the aorta

  1. Often associated with other congenital heart abnormalities? 3
  2. What is the anatomical problem?
A
  1. Hypoplastic aortic arch
  2. abnormal aortic valve
  3. VSD

Occurs where the ductus arteriosis inserts into the aorta

51
Q

Symptoms of coarctation of the aorta
7

Treatment? 1

A
  1. Poor feeding
  2. Respiratory distress
  3. Shock
  4. Femoral pulses weak compared to the radial or brachial pulses
  5. Older children may have lower extremity claudication
  6. Systolic murmur best heard on the left upper back

Treatment – try to keep the ductus arteriosus open until surgery

52
Q
  1. What are all the componenents of the tetrology of fallot? 4
  2. What kind of shunt?
  3. Cyanosis varies depending on what?
  4. Surgical repair at about when?
A
    • VSD,
    • pulmonary stenosis,
    • overriding aorta,
    • right ventricular hypertrophy
  2. Right to left shunt
  3. Cyanosis varies depending on the size of the shunt
  4. Surgical repair at about 6 months
53
Q

TOF

  1. murmur?
  2. Symptoms? 5
A
  1. Loud, harsh systolic ejection murmur
    • Hypoxia
    • Cyanosis
    • Symptoms worsen after the PDA closes
    • Tachypnea
    • Tet spells – cyanosis worsens with crying, toddlers will squat to relieve symptoms, may have syncope, hemiparesis, seizures or death may occur
54
Q

Cyanotic congenital heart disease

  1. What kind of shunt?
  2. 5 Ts of cyanotic congenital heart disease
A
  1. Right to left shunt

5 Ts of cyanotic congenital heart disease

  • Tetralogy of Fallot
  • Transposition of the great arteries
  • Tricuspid atresia
  • Truncus arteriosus
  • Total anomalous pulmonary venous return
55
Q

Acyanotic congenital heart disease

  1. Left to right shunts? 3
  2. Obstructive lesions? 3
A
  1. Left to right shunts
    - PDA
    - VSD
    - ASD
  2. Obstructive lesions
    - Aortic stenosis,
    - pulmonary stenosis,
    - coarctation of the aorta
56
Q

Evaluation of the cyanotic newborn

  1. Central cyanosis is indicative of what?
  2. What disease is most common?
  3. What are other diseases it may cause?
A
  1. Central cyanosis is indicative of a significant underlying condition
  2. Cardiopulmonary disease is the most common
    • Respiratory distress syndrome
    • Sepsis
    • Cyanotic heart disease
57
Q

Work up of the cyanotic newborn

8

A
  1. CXR
  2. CBC,
  3. CMP
  4. Blood glucose
  5. ABG’s
  6. Blood cultures
  7. Echocardiogram
  8. Involve your supervising physician early and refer
58
Q

Chromosomal abnormalities

5

A
  1. Trisomy-21
  2. Trisomy-13
  3. Turner syndrome
  4. Kleinfelter syndrome
  5. Fragile X syndrome
59
Q

Chromosomal disorders

  1. Numerical autosomal abnormalities? 2
  2. Chromosomal deletions? 1
  3. Numeric sex chromosomal disorders? 2
A
  1. Numerical autosomal abnormalities
    - Down Syndrome (Trisomy 21)
    - Trisomy 13
  2. Chromosomal deletion
    - Deletion 22q11 Syndrome
  3. Numeric sex chromosomal disorders
    - Turner syndrome XO (1:2500 girls)
    - Klinefelter syndrome XXY (1:800 boys)
60
Q
  1. Most common abnormality of chromosomal number 1:800?
  2. What is it associated with?
  3. Increased risk when maternal age is what?
A
  1. Trisomy 21 (Down Syndrome)
  2. Associated with developmental and medical comorbitities
  3. Increased risk when maternal age is > 35
61
Q

Down syndrome characteristics

12

A
  1. Normal size baby
  2. Hypotonic
  3. Brachycephaly
  4. Flattened occiput
  5. Hypoplastic midface
  6. Flattened nasal bridge
  7. Upslanting palpebral fissures
  8. Epicanthal folds
  9. Large protruding tongue
  10. Short broad hands
  11. Transverse palmar crease
  12. Wide gap between 1st and 2nd toes
62
Q

Medical problems associated with Down syndrome

8

A
  1. 40% congenital heart defects
  2. 10% have GI tract abnormalities
  3. 1% hypothyroidism
  4. Increased risk of leukemia (20X)
  5. Increased risk of infection
  6. Increased risk of cataracts
  7. 10% have alantoaxial instability = predispose to spinal cord injury
  8. > age 35 may develop Alzheimer’s like features
63
Q
  1. What is the most common characteristic of down syndrome?

2. What is the goal of our treatment?

A
  1. Most constant characteristic is mental retardation with IQs mostly between 40-50
  2. Goal is to help these children develop to their full potential
64
Q

Down syndrome growth and development?

3

A
  1. Different growth charts
  2. Will be slower at reaching developmental milestones
  3. Support with therapies as needed (OT, ST, PT)
65
Q
  1. What is trisomy 13?

2. Prognosis?

A
  1. Multiple dysmorphic features and complications. Marked developmental retardation
  2. Most die of heart failure or infection in infancy or by the second year of life.
66
Q

Deletion 22q11 Syndrome
Associated with a variety of syndromes such as?
7

A
    • Velocardiofacial syndrome,
    • conotruncal anomaly face sydrome,
    • Shprintzen syndrome,
    • DiGeorge syndrome,
    • CATCH 22
    • congenital heart disease
    • cleft palate

Can affect virtually all body systems

67
Q

Deletion 22q11 Syndrome
Symptoms?
7

A
  1. Hypoplasia of the thymus and/or parathyroid gland
  2. Conotruncal cardiac defects
  3. Facial dysmorphism

Clinical manifestations may include

  1. neonatal hypocalcemia,
  2. increased infections, as well as a predisposition to
  3. autoimmune diseases later in life
  4. Mild to moderate learning difficulties are common.
68
Q

Turner Syndrome (XO)

  1. Associated with what?
  2. Comorbidity risks? 3
A
  1. Maternal age at birth often advanced
    • Renal anomalies (40%)
    • Congenital heart defect (coarctation) (20%)
    • Autoimmune thyroiditis is common
69
Q

Turner Syndrome:
Dysmorphic features
5

A
  1. Lymphedema (hands & feets)
  2. Webbing of the neck
  3. Short stature
  4. Multiple pigmented nevi
  5. Gonadal dysgenesis
70
Q

What is gonadal dysgenesis?

A

ovaries fail to respond to gonadotropin stimulation (amenorrhea at puberty and failure of development of secondary sexual characteristics)

71
Q

Turner Syndrome treatment

2

A
  1. Estrogen replacement therapy
  2. Growth hormone therapy can be used to increase height

Hearing loss, hypothyroidism, and liver function abnormalities can occur as these women get older

72
Q

Most common congenital abnormality causing primary hypogonadism?

A

Klinefelter Syndrome (XXY)

73
Q

Klinefelter Syndrome (XXY)

  1. Prepubertal phentypes looks like?
  2. Often detected at what age?
  3. Why is it detected then? 2
A
  1. Other than thin build and long arms, prepubertal boys have a normal phenotype
  2. Often not detected until about age 15 or 16 when the
    • testes remain small and
    • they lack secondary sexual characteristics
74
Q 
Klinefelter Syndrome (XXY)
Dysmorphic features
A
  1. Taller stature/wider arm span
  2. Small testes/⇩testosterone/⇩spermatogenesis
  3. Incomplete masculinization/⇩body hair
  4. Female habitus/gynecomastia
75
Q

Klinefelter Syndrome (XXY)
Clinical features
3

Treatment
1

A
  1. Immaturity
  2. Normal to borderline low IQ, some variations manifest severe mental retardation
  3. Behavioral problems
  4. testosterone replacement therapy
76
Q

Fragile X Syndrome
1. PP?
2. clincial manifestations?
4

A
  1. Mutation of DNA that codes for a protein helps plays a role in the development of synapses
    • Mental retardation,
    • oblong face with large ears,
    • large testicles,
    • autistic like behavior
77
Q

Marfan’s syndrome

  1. Caused by what?
  2. What is fibrillin?
A
  1. Caused by a mutation in the FBN1 gene that determines the structure of fibrillin
  2. Fibrillin is a protein that is an important part of connective tissue and elastic fibers which affect multiple parts of the body such as bones, joints, eyes, blood vessels, and heart
78
Q

Marfans Symptoms?

13

A
  1. Muscle weakness of the legs
  2. Increased risk of hernia
  3. Increased risk of spontaneous pneumothorax
  4. Lens dislocation
  5. Ascending aortic aneurysm
  6. Aortic valve disease
  7. Vascular dissection
  8. Flat feet
  9. Scoliosis
  10. Long and skinny fingers and toes
  11. Stretch marks
  12. Loose/hyperflexible joints
  13. Tall, thin stature
79
Q

Diagnosis of Marfan’s

A
  1. Aortic root aneurysm and ectopia lentis (dislocated lenses) are cardinal features
  2. Clinical signs typical of the diagnosis
  3. Genetic testing
80
Q

What are the cardinal features of Marfans?

A
  1. Aortic root aneurysm and

2. ectopia lentis (dislocated lenses)

81
Q

Treatment

3

A
  1. Beta blockers
  2. Losartan? (ARB)
  3. Control of symptoms from valvular disease

There is no cure for Marfan Syndrome but there are some treatments to help improve the quality of life

82
Q

Phenylketonuria (PKU)

is what kind of disorder?

A

amino acid metabolism disorder

83
Q

Phenylketonuria (PKU) is what?

A

Decreased activity of phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine

84
Q

Clinical presentation
PKU

4

A
  1. Asymptomatic in early infancy
  2. Hypopigmentation
  3. Neurologic manifestations
  4. Severe Mental retardation
85
Q

PKU neuro manifestations?

4

A
  1. Tremors
  2. Hypertonicity
  3. Behavioral disorders
  4. Seizures
86
Q

PKU management: Main stay Treatment (when treated early will be normal physically and developmentally)?
1

A
  1. Dietary restrictions (“diet for life”)

- -Especially important during pregnancy if woman has PKU

87
Q

Dietary restrictions for PKU?

4

A
  1. Restriction of foods high in Phenylalanine
    - –Red meat, chicken, fish, eggs, nuts, cheese, legumes, milk and other dairy products
  2. Infants may breastfeed
  3. Avoid aspartame
  4. Supplementation of tyrosine and other nutrients that may be deficient
88
Q

Galactosemia

  1. Is inherited how?
  2. Deficiency of what? and what does this lead to?
  3. Clinical presentation? 5
A
  1. Autosomal recessive disorder
  2. Deficiency of galactose-1-phosphate uridyltransferase leading to buildup of unmetabolized galactose
  3. Clinical presentation
    - Appears within days to weeks of birth
    - Hepatomegaly
    - Vomiting, anorexia
    - Growth failure (failure to thrive)
    - Aminoaciduria
89
Q

What happens if galactosemia pt is given milk?

A

unmetabolized milk sugars build up and damage the liver, eyes, kidneys and brain

90
Q

Galactosemia:
Treatment? 1
Prognosis? 3

A
  1. Treatment
    - Eliminate galactose from diet (if treated early… excellent prognosis)
  2. Prognosis (untreated)
    - Death
    - Mental and/or growth retardation
    - Cataracts
91
Q

Embryological disorders and CP

3

A
  1. Neural tube defect
  2. Orofacial clefts
  3. Cerebral palsy
92
Q

What happens in a neural tube defect?

Risk factors?

A

Failure of neural groove to fuse completely

  1. Maternal age (teenage and older women)
  2. Maternal health (medications, diabetes, nutrition)
93
Q

Two major types of neural defects?

How do we diagnosis prenatally?

Prevention?

A
  1. Anencephaly (no cranium)
  2. Meningomyelocele (spina bifida) – distal to brain
  3. Prenatal diagnosis = elevated alpha-fetoprotein
  4. PREVENTION: Prenatal (antenatal) Folic acid supplementation
94
Q

Whats an Orofacial Clefts?

A

Cleft lip with/without cleft palate

95
Q

What is cerebral palsy?

Often associated with what? 4

A

Cerebral palsy is a static encephalopathy

Often associated with

  1. epilepsy,
  2. speech problems,
  3. vision compromise, &
  4. cognitive dysfunction
96
Q

What is encephalopathy?

A

Encephalopathy = Brain Injury that is non-progressive disorder of posture and movement

97
Q

Prenatal etiologies of cerebral palsy? 7

A
  1. Infection,
  2. anoxia,
  3. toxic,
  4. vascular,
  5. Rh disease,
  6. genetic,
  7. congenital malformation of brain
98
Q

Natal etiologies of cerebral palsy? 3

Postnatal? 3

A

Natal

  1. Anoxia,
  2. traumatic delivery,
  3. metabolic

Postnatal

  1. Trauma,
  2. infection,
  3. stroke
99
Q

Clinical features

of cerebral palsy?8

A
  1. Muscle spasticity
  2. Dyskinesia: defect in the ability to perform voluntary movement
  3. Ataxia: defective muscle coordination, especially manifested when voluntary movements attempted
  4. Epilepsy
  5. Mental retardation
  6. Learning disabilities
  7. Behavior problems
  8. Strabismus
100
Q

Usually diagnosed in the first 18 months of life when they fail to do what?

A

meet developmental motor milestones

101
Q

Cerebral palsy complications?

12

A
  1. Spasticity
  2. Weakness
  3. Increase reflexes
  4. Clonus
  5. Seizures
  6. Articulation & Swallowing difficulty
  7. Visual compromise
  8. Deformation
  9. Hip dislocation
  10. Kyphoscoliosis
  11. Constipation
  12. Urinary tract infection
102
Q

Cerebral Palsy: Management

4

A
  1. Refer to neurology and possible physical medicine and rehab physician
  2. OT and PT
  3. Speech
  4. Adaptive equipment
103
Q

Screening for neonatal congenital disorders

5

A
  1. Complete maternal medical, surgical, social, family history
  2. Amniocentesis
  3. Quad screen (maternal blood sample) and fetal ultrasound
  4. Newborn disease screening
  5. TORCH screening

Pediatrics (18 decks)

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