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Pediatrics > Hereditary and Congenital Conditions > Flashcards

Hereditary and Congenital Conditions Flashcards

1
Q

What are the most common identified disorders on newborn screen?

A
  1. Hearing loss
  2. Primary congenital hypothyroidism
  3. Cystic Fibrosis
  4. Sickle Cell Disease
  5. Medium chain acyl-CoA dehydrogenase deficiency
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2
Q

What is deficient in Phenylketonuria (PKU)?

A

Deficiency of phenylalanine hydroxylase –> converts phenylalanine to tyrosine

Autosomal recessive disorder

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3
Q

What is the management for PKU once identified on newborn screen?

A

Avoid intake of phenylalanine (low protein diet)

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4
Q

Without newborn screen, congenital hypothyroidism can be missed due to what physiologically?

A

Maternal T4 can cross the placenta and cause normal levels in the neonatal period

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5
Q

What is the treatment for congenital hypothyroidism once identified on newborn screen?

A

Consult to pediatric endocrinology for early thyroid replacement treatment (within 2-6 weeks of life)

*If missed can cause intellectual disability and poor growth

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6
Q

What are the two forms of congenital adrenal hyperplasia (CAH)?

A

Classic Form: more severe, usually detected by screening.

Non-classic (late-onset): milder, presents later childhood

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7
Q

What is being lost in classic form CAH?

A

Salt-losing: low Na, high K, low BP

*at risk for adrenal crisis

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8
Q

What is the presentation of non-classic CAH?

A
  • Presents later childhood
  • Precocious puberty
  • Short stature as adults - premature closure of the growth plates

Girls: Hirsutism, menstrual issues, irregularities

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9
Q

What are the signs of adrenal crisis?

A
  • Shock/severe hypotension
  • Failure to thrive
  • Vomiting, diarrhea, abdominal pain
  • Low Na
  • High K
  • Metabolic acidosis
  • Low glucose
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10
Q

What is the treatment of classic form CAH?

A

successfully managed by taking hormone replacement medications

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11
Q

What is the treatment of non-classic form CAH?

A

May not require treatment or only small doses of corticosteroids

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12
Q

What complications can arise from undetected hearing loss?

A

Can lead to delayed language, problems with behavior/social, poor school performance

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13
Q

What are some risk factors for sensorineural hearing loss in the newborn?

A

Prenatal:
- TORCH infections (CMV, syphilis)
- Maternal diabetes
- Prenatal medications
- Maternal drug abuse

Postnatal:
- VLBW
- Ischemia
- Severe hyperbilirubinemia
- Low APGARs

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14
Q

Prevalence of Trisomy 21 is dependent on what risk factor?

A

Maternal age (older age higher the risk)

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15
Q

What reflex is diminished to non-existant in Trisomy 21?

A

Moro reflex due to hypotonia

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16
Q

What is the name of the pathoneumonic spots found on the iris in patients with Trisomy 21?

A

Brushfield spots

17
Q

What are some clinical features of Trisomy 21?

A
  • Cognitive impairment
  • Congenital heart disease
  • GI tract abnormalities: duodenal atresia, TE fistula, celiac disease
  • Refractive errors, strabismus
  • Hearing loss
  • Increased risk of dementia, leukemia, hypothyroidism
18
Q

What are some classic presentational features of Klinefelter’s syndrome?

A
  • Tall
  • Narrow shoulders
  • Infertility (azoospermia)
  • Small testes
  • Gynecomastia
19
Q

What is the only monosomy that allows survival to birth?

A

Turner’s Syndrome

20
Q

What are some clinical features of Turner’s Syndrome?

A
  • Short stature
  • Primary amenorrhea/ovarian failure
  • Streak gonads
  • Sheild chest (wide inter-nipple distance)
  • Congenital lymphedema of hands and feet
21
Q

What are some of the dysmorphic features of Turner’s Syndrome?

A
  • Webbed neck
  • Nail dysplasia
  • High palate
  • Short 4th metacarpal
  • Low hairline
22
Q

What are the cardiac abnormalities associated with Turner’s Syndrome?

A
  • Coarctation of the aorta
  • Bicuspid aortic valve
  • Aortic root dilation
23
Q

What is the presentation of Prader-Willi in the neonatal period?

A
  • Hypotonia (poor suck, failure to thrive)
  • Almond shaped eyes
  • Small hands and feet
24
Q

What is the presentation of Prader-Willi in childhood/adolescence?

What are some physical features?

A
  • Obesity (hyperphagia)
  • Hypogonadism (small testes, cryptorchism)
  • Developmental delay, behavioral concerns

Short stature, almond shaped eyes

25
Q

What are the major systems involved in Marfans?

A
  • Cardiac: aortic aneurysms
  • MSK: long, thin extremities, loose joints
  • Eyes: dislocations of the lens (ectopia lentis)
  • Respiratory: spontaneous pneumos are common
26
Q

Should individuals with Marfan’s participate in sports?

A

No, high risk for dilation of the aortic root and aneurysms

***Only a cardiologist should clear patients for sports or physical activity

27
Q

What are the two features that are a focus of the Ghent Criteria for diagnosing Marfan’s?

A
  • Aortic root dilation
  • Ectopia lentis

*Most characteristic

28
Q

What are the clinical features of Ehlers-Danlos?

A
  • Skin hyperextensibility
  • Easy bruising
  • Velvety fragile skin, poor wound healing (cigarette-paper scars)
  • Joint hypermobility
29
Q

What are some common cognitive disorders associated with Ehlers-Danlos?

A
  • Severe tiredness
  • Difficulty concentrating (ADD/ADHD)
30
Q

What is the management of Ehler’s Danlos?

A
  • Physical therapy
  • NSAIDs, TCAs, and SNRI’s used for pain
  • Muscle relaxants or magnesium to relieve muscle spasms
  • Referral to pediatric cardiologist
31
Q

Due to the high risk for this complication patients newly diagnosed with Ehlers-Danlos should be immediately referred to pediatric cardiology?

A

Risk for spontaneous rupture of vasculature or viscera

32
Q

What are the three types of Spina Bifida?

A
  • Occulta
  • Meningocele
  • Myelomeningocele
33
Q

Is fetal alcohol syndrome considered a neural tube defect?

A

Yes, because alcohol interferes with B12 and folate

34
Q

What is the treatment for Prader Willi?

A

Growth Hormone Replacement

Nutrition Management

Pediatrics (16 decks)

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