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Peds 1 > Congenital Disorders > Flashcards

Congenital Disorders Flashcards

1
Q

Congenital infections occur when? Transmission?

A

during pregnancy, labor, and delivery.

Transmitted through the placenta, amniotic fluid, and vaginal canal.

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2
Q

Congenital infections have broad spectrum of presentations such as?

A
  • Growth retardation
  • premature delivery
  • CNS abnormaliities: microcephaly, hydrocephalyl
  • hepatosplenomegaly
  • bruising or petechiae
  • skin lesions
  • pneumonitis
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3
Q

What does TORCH stand for?

A

Toxoplasmosis

Other: syphillis, HIV, Parvovirus B19, varicella, hepatitis, enterovirus

Rubella

CMV

Herpes Simplex

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4
Q

Toxoplasmosis:

  • what bug?
  • found where?
  • maternal sx
  • neonate sx
A

Bug: Toxoplasma gondii

Found: in cat feces, raw or undercooked meat, contaminated water or soil

Maternal sx: nonspecific, flu like sx in adults such as fatigue, fever, HA, myalgia.

Fetal sx: fever, maculopapular rash, hepatosplenomegaly, microcephaly, seizures, jaundice, thrombocytopenia*, generalized lymphadenopathy

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5
Q

Toxoplasmosis:

  • classic triad of congenital toxo?
  • describe how toxo attacks the brain
  • long term complications
  • dx
  • tx
A

Triad: chorioretinitis (posterior uveitis), hydrocephalus, intracranial calcifications

Toxo and the brain: necrotic, calcified cystic lesions dispersed within the brain.

Long term comp: seizures, mental retardation, spasticity, relapsing chorioretinitis

Dx:

  • IgM anti-toxoplasma abby 20-26wks in the mother
  • isolate parasite in fetal blood or amniotic fluidd
  • postnatal IgM abs in serum
  • prenatal ultrasound (symmetric ventricular dilation, intracranial calcification, hepatomegaly*, ascites)
  • labs show anemia, thrombocytopenia*, eosinophila, abnormal CSF

Tx: can treat during pregnancy.

-Pyrimethamine & sulfadiazine or Spiiramycin

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6
Q

Other: Syphilliis

  • what is the bug?
  • infection can result in?
  • transmission
  • early sx
  • late sx
A

Bug: treponema pallidum

Infection can result in:

  • still birth
  • hydrops fetalis
  • prematurity
  • hepatomegaly*
  • edema
  • thrombocytopenia*
  • anemia
  • skeletal abnormalities, saddle nose deformity
  • rash

Transmission:
-transplacental; usually during second half of pregnancy.

Early Sx

  • hepatosplenomegaly*
  • skin rash*
  • anemia
  • jaundice
  • metaphyseal dystrophy
  • periostitis*
  • CSF w/ increased protein
  • osteochondritis*
  • snuffles (clear to purulent or sanguineous discharge)

Late sx: 8th nerve deafness*, hutchinson teeth, interstitial keratitis

*may be asymptomatic, sx can develop weeks or months later.

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7
Q

Syphillis

  • dx
  • tx
A

Dx: IgM FTA-ABS in newborn blood (not always positive at first, recheck in 3-4wks)

Tx: PCN G
-monitor for vision changes, hearing, developmental abnormalities.

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8
Q

Rubella:

  • sx in adult
  • manifestations in neonate
A

Sx in adult: mild self limited illness.

Manifestation in neonate:

  • deafness, cataracts, cardiac malformations, growth retardation (SGA), radiolucent bone dz, hepatosplenomegaly, thrombocytopenia, purpuric skin lesion (blueberry muffin), hyperbilirubinemia
  • microcephaly*
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9
Q

Rubella

  • dx
  • long term complications
  • tx
A

Dx:

  • 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, urine

Long Term Comp:
-communication disorders, hearing deficits, mental and motor retardation, microcephaly, learning deficits, balance andd gait disturbances, behavior problems.

Tx: not treatable, its only preventable by getting MMR vaccine.
-if infant is immunocompromised can try antivirals (ganciclovir)

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10
Q

CMV

-transmission

A

Transmission: saliva, urine, or bodily fluids;

  • can be transmitted to the fetus even if maternal infection had occurred prior to conception, though virus needs to be reactivated to pass to infant.
  • if transmitted from a newly acquired maternal infection then increased severity of infection and worse prognosis.
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11
Q

CMV:

  • leading cause of what?
  • sx
A

Leading cause of sensorineural hearing loss*

Sx:
-mental retardation, retinal dz, cerebral palsy, SGA, microcephaly, thrombocytopenia, hepatosplenomegaly*, hepatitis, intracranial calcification.

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12
Q

Herpes Simplex

  • time of transmission
  • tx
A

Transmission: most commonly acquired at the time of birth during transit through the infected birth canal. Tranmission more likely if mom is having primary outbreak (viral load is highest), transmission w/ reactivated infection is 5%.

Cesarean section often performed to prevent transmission

Tx: acyclovir

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13
Q

HSV:

-sx of neonate

A

Sx:

  • Disseminated dz:
  • -sepsis
  • -liver, lungs
  • localized:
  • -CNS (Seizures, encephalopathy)
  • -skin, eyes, mouth
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14
Q

Varicella:

  • aka
  • clinical manifestations
A

aka: HHV3 (human herpes virus 3)

Clinical manifastations:

  • cutaneous scars
  • cataracts
  • chorioretinitis
  • microphthalmos
  • nystagmus
  • hypoplastic limbs
  • cortical atrophy
  • seizures
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15
Q

Work up for all perinatal infections

A
  • review maternal hx
  • assess physical stigmata consistent w/ various intrauterine infections
  • CBC, LFTs,
  • Long bone Xray
  • ophthalmologic evaluation
  • neuroimaging
  • LP

Stigmata -identifying mark or characteristic, specific diagnostic sign of a dz.

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16
Q
  1. WHich infections cause deafness at birth and later?
  2. which infections can be associated with thrombocytopenia and purpura or petechiae?
  3. Which infection has elevated LFTs?
  4. which infections cause chorioretinitis and possible blindness?
  5. which infections cause hepatosplenomegaly?
A
  1. Syphillis, rubella, CMV, HSV
  2. Thrombocytopenia: toxo, syphillis, rubella, CMV, HSV

Petechia/purpura: Toxo, syphillis, rubella

  1. elevated LFTs is HSV
  2. chorioretinitis: toxoplasmosis, varicella

rubella causes cataracts

  1. hepatosplenomegaly: toxo, syphillis, rubella, CMV
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17
Q

Maternal Conditions that may cause birth defects

A
  • medications; ACEI, anticonvulsants, antineoplastic, lithium, tetracycline, sulfa
  • medical disorders; DM, PKU, SLE, obesity, HTN, hypothyroidism
  • substance abuse: alcohol, illicit drungs, inhaling paint, tobacco, caffeine (little okay)
  • mechanical forces: amniotic bands(wraps part of baby limb & cause underdevelopment), too much/too little amniotic fluid, position of fetus, uterine fibroids, placental issues
  • toxins: mercury, lead, ionizing radiation, carbon monoxide, poor nutrition
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18
Q

Craniofacial features associated with FAS

A
  • skin folds at the corner of the eye
  • low nasal bridge
  • short nose

indistinct philtrum (groove between nose and lip)

small head circumference

small eye opening

small midface

thin upper lip

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19
Q

Fetal Alcohol Syndrome

-manifestations

A
  • low IQ
  • SGA
  • learning or behavioral difficulties
  • facial dysmorphism
20
Q

What are the 5 congenital heart defects?

A 
VSD 
ASD 
PDA 
Coarctation of aorta 
Tetralogy of Fallot
21
Q

VSD:

  • sx
  • which way does blood flow
  • tx
A

Sx: fatigue, diaphoresis w/ feedings*, poor growth, pansystolic murmur.

-left to right shunt.

Tx: close spontaneoulsy, some may require patching.

22
Q

ASD:

  • which way does blood flow?
  • sx
  • tx
A
  • left to right shunt
  • rarely symptomatic, soft systolic ejection murmur, fixed split S2

Tx: larger shunt needs to be closed if still present at 3yrs

23
Q

PDA

  • signs
  • risk factors
  • tx
A

Signs: widened pulse pressure, machine like murmur*

Tx: prostaglandin inhibitors such as indomethacin, coiling/closure device.

Risk factors:

  • prematurity
  • heart defects
  • high altitude
  • hypoxia
  • maternal rubella infection
24
Q

Coarctation of Aorta

  • sx
  • tx
A

sx: poor feeding, resp distress, shock, weak femoral pulse compared to brachial
- lower extremity claudication, systolic murmur

Tx: keep ductus arteriousus (prostaglandins) until surgery.

25
Q

Tetralogy of Fallot

  • what is this?
  • which direction does blood flow?
  • sx
  • tx
A

What: VSD, pulm stenosis, overriding aorta, right ventricular hypertrophy

Blood flow: right to left shunt

sx: loud, harsh systolic ejection murmur*, hypoxia, cyanosis, tachypnea, tet spells (cyanosis worsens with crying, toddlers will squat to relieve sx)

Tx: surgical repair at 6mo.

26
Q

What is the cornerstone test for the work up of congenital heart disease?

A

echo, prenatal ultrasound.

27
Q

what are the 5 cyanotic congenital heart diseases?

-what type of shunt are these?

A
  • Tetralogy of Fallot
  • Transposition of the great arteries
  • Tricuspid atresia
  • truncus arteriosus (essentially 1 chamber, AO & PA same tube)
  • total anomalous pulmonary venous return.
28
Q

What are the Left to right shunts?

A
  • PDA
  • VSD
  • ASD
  • Obstructive lesions such as aortic stenosis, coarctation of aorta
29
Q

Cyanotic Newborn:

  • MC cause
  • work up
A

MC: cardiopulmonary dz, such as:

  • -RDS
  • -Sepsis
  • -Cyanotic heart dz

Work up:

  • CXR
  • CBC, CMP (glucose)
  • ABG
  • blood cultures
  • echo
30
Q

Trisomy 21

  • aka
  • risk factors
  • characteristics
A

aka: Down Syndrome

Risk factors: maternal age greater than 35

Characteristics:

  • MR* w/ low IQ (most constant)
  • normal size baby
  • hypotonic*
  • brachycephaly (short head)
  • hypoplastic midface
  • flattened nasal bridge
  • upslanting palpebral fissues
  • epicanthal folds
  • large protruding tongue
  • short broad hands
  • transverse palmar crease
  • wide gap between 1st and 2nd toes
31
Q

Are people with down syndrome at an increased risk of comorbidities?

A

yes!!! they may have comorbid conditions such as:

  • congenital heart defect
  • hypothyroidism
  • leukemia* (20x)
  • infections*
  • cataracts
  • sleep apnea (large tongue)
  • atlantoaxial instability (spinal cord injury)
32
Q

How is growth and development different in down syndrome patients?

A

-Their growth will be slower at reaching developmental milestones. Require use of different growth charts.

33
Q

Trisomy 13

  • MC cause of death
  • lifespan
A

MC cause of death is heart failure or infection.

Most die by second year of life.

34
Q

Deletion 22q11 Syndrome

  • 2 MC characteristics
  • affects what body systems?
  • what is this?
A

MC characteristics are congenital heart disease and cleft palate.

can affect virtually all body systems.

What: hypoplasia of the thymus and/or parathyroid gland

35
Q

Turner Syndrome (XO)

  • dysmorphic features
  • tx
A

Features: lymphedema (hands and feet)

  • webbing of the neck*
  • broad chest*
  • short stature*
  • multiple pigmented nevi
  • gonadal dysgenesis (amenorrhea & failure of development of 2ndry sexual characteristics

Tx:

  • estrogen replacement therapy
  • growth hormone to increase height
  • hearing loss, hypothyroidism, and liver function abnormalities can occur as these women get older.
36
Q

Klinefelter Syndrome (XXY)
-MC congenital abnormality causing what?
-detected at what age?
Sx

A

MC congenital abnormality causeing primary hypogonadism*

Detected at 15-26 when testes remain small and they lack secondary sex characteristics.

Sx:

  • Dysmorphic features:
  • -tall stature/wider arm span (long arm & leg)
  • -small testes/low testosterone/decreased spermatogenesis
  • -incomplete masculinization/ decreased body hair
  • -female habitus/gynecomastia
37
Q

Klinefelters (XXY)

  • clinical features
  • tx
A

Clinical features:

  • immaturity
  • normal to low IQ
  • behavioral problems

Tx: testosterone replacement therapy

38
Q

Fragile X Syndrome

  • what is this?
  • sx
A

what: mutation of DNA that causes poor synapse formation.. leading to the sx.

Sx:

  • MR
  • oblong face w/ large ears
  • large testicles
  • autistic behavior
  • broad forehead
  • hyperextensible joints
  • pectus excavatum (indented chest)
  • hypotonia
  • calluses on hands
39
Q

Marfans Syndrome

  • cause
  • what is the likelihood of inheriting this dz?
  • sx
A

Cause: mutation in the FBN1 gene that determines the structure of fibrillin; abnormal CT affecting the bones, joints, eyes, blood vessels, & heart

-each child of a person who has marfans syndrome has 50% chance of inheriting the dz.

Sx:

  • muscle weakness of the legs, increased risk of hernia, spontaneous risk of pneumothorax, lens dislocation, ascending aortic aneurysms, aortic valve disease, vascular dissection.
  • flat feet, scoliosis, long and skinny fingers and toes, stretch marks, loose/hyperflexible joints, tall, thin stature
40
Q

Marfans

  • dx
  • tx
  • leading cause of death in marfans?
A

dx: clinical signs and genetic testing

Tx:

  • beta blockers*(1st line) to reduce stress on vascular wall
  • Lorsartan?
  • control sx of valvular dz
  • no cure, treat sx. life expectancy is that of an average person.

Leading cause of death: aneurysm.

41
Q

Phenylketonuria (PKU)

  • what is this?
  • clinical presentation
  • tx
A

WHat: decreased activity of phylalanine hydroxylase.(the enzyme that converts phylalanine to tyrosine)

Clinical Presentation:

  • asymptomatic in early infection
  • hypopigmentation
  • Tremors, hypertonicity, behavioral disorders, seizures
  • severe MR if undx.

Tx: if treated can live normally.

  • dietary restrictions:
  • -NO red meat, chicken, fish, eggs, nuts, cheese, legumes, dairy products
  • -avoid aspartame
  • -supplement of tyrosine
42
Q

Galactosemia

  • what is this?
  • presentation
  • tx
  • untreated prognosis
A

What: autosomal recessive disorder, build up of unmetabolized galactose.

Presentation: appears within days to weeks of birth.

  • hepatomegaly
  • vomting
  • anorexia
  • growth failure
  • aminoaciduria
  • if galactosemis infant is given milk, unmetabolized milk sugars build up and damage liver, eyes, kidney, and brain.

Tx:

  • eliminate galactose from diet
  • cannot breast feed, need soy based formula.

Prognosis if untreated = death, mental/growth retardation, cataracts.

43
Q

Neural Tube defects:

  • risk factors
  • two major types
  • prevention
  • prenatal dx
A

Risk factors: maternal age (teenage and older women), maternal health (meds, DM, nutrition)

Two major types: ancephaly, meningomyelocele (spina bifida)

Prevention:
-prenatal FOLIC ACID!!!!!!!!!!!!!!!!

Prenatal dx: elevated alpha-fetoprotein

44
Q

Orofacial Clefts

-highest incidence in which populations?

A

asians and native americans

45
Q

Cerebral Palsy

  • what
  • etiologies
  • -prenatal
  • -natal
  • -postnatal
A

What
-static encephalopathy… brain injury due to anoxic insult. The brain injury is not progressive

  • etiologies
  • -prenatal: inifection, anoxia, toxic, vascular, Ph disease, genetic, congenital malformation of the brain
  • -natal: anoxia, traumatic delivery, metabolic
  • -postnatal: trauma, infection, stroke
46
Q

Cerebral Palsy

  • clinical features
  • typical age at dx
A

CLinical Features

  • muscle spasicity
  • dyskinesia
  • ataxia
  • epilepsy
  • MR
  • learning disabilities
  • behavior problems
  • strabismus

Age at dx:
usually 18 months

47
Q

Cerebral Palsy

  • complications
  • tx
A

Complications

  • spasicity
  • weakness
  • increase reflexes
  • clonus
  • seizures
  • articulations and swallowing difficulty
  • visual compromise
  • defrmation
  • hip dislocation
  • kyphosis
  • constipation
  • UTI

TX

  • Refer to neurology and physical medicine and rehab physician
  • OT, PT
  • speech
  • adaptive equipment

Peds 1 (12 decks)

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