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Pediatrics Exam 1 > Congenital infections & disorders > Flashcards

Congenital infections & disorders Flashcards

1
Q

Aneuploid

A
  • Cells deviating from
    the multiple of the
    haploid number
  • 23 paired chromosomes
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2
Q

(+) or (−) preceding the
chromosome number
indicates _____

A

↑ or ↓ whole chromosome in a cell
47, XY+21
Designates a ♂ with 3
copies of chromosome 21

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3
Q

(+) or (−) after the chromosome
number signifies _____

A

extra or missing material on 1 of the arms of the
chromosome
46, XX, 8q−
Denotes a deletion on the
long arm of chromosome 8

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4
Q

Trisomy: ____

A

3 of a particular chromosome

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5
Q

Monosomy: _____

A

Only 1 of a particular chromosome

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6
Q

Examples of structural
chromosomal abnormalities:

A
  • Deletion
  • Duplication
  • Inversion
  • Ring chromosome
  • Translocation
  • Insertion
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7
Q

Xenobiotics

A

compounds foreign to nature

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8
Q

Neural Tube Defects

A

Anencephaly, encephalocele, spina bifida (myelomeningocele), sacral agenesis, & other spinal dysraphisms

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9
Q

Etiology of Neural Tube Defects

A
  • Neural tube develops via closure at multiple closure sites
    – Each is mediated & affected by different genes & teratogens
    – Usual cause → Folate Deficiency
  • Combined with genetic &/or environmental factors
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10
Q

Neural Tube Defects Presentation

A
  • Lesions at birth
    – Extent of neurologic deficit depends on the lesion level (Open vs. subtle skin covering)
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11
Q

Diagnosis of neural tube defects and importance of early diagnosis

A
  • Prenatal screening
    – Ultrasound
    – Maternal alpha-fetoprotein (AFP)
  • Specific globulin from the yolk sac, GI tract, & liver
  • In maternal serum, amniotic fluid, & fetal plasma
    – AFP Concentration: Maternal serum AFP < Amniotic fluid or Fetal plasma
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12
Q

Ultrasound Screening (US) guidelines for neural tube defects

A
  • Transabdominal → 18-20 weeks
    – Detection rate = 92-100% for NTD
  • Transvaginal → 12-14 weeks
    – Detection rates vary
    44% (spina bifida) >90 (anencephaly)
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13
Q

Management of Myelomeningocele (Spina Bifida)

A

– Possible fetal surgery to stop
leakage of spinal fluid & possibly
prevent hindbrain herniation & hydrocephalus
– Delivery
* No benefit of pre-labor cesarean delivery
* Meningocele is unlikely to cause dystocia

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14
Q

Management of anencephaly

A
  • Poor prognosis
    – Most are stillborn or die shortly after birth
  • Most pregnancies are terminated or induced
  • These infants are poor candidates for organ donation
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15
Q

Management of Encephalocele

A
  • No data available
  • Vaginal delivery may be safe (small lesion)
    – Cesarean delivery (large lesions)
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16
Q

Complications of Myelomeningocele

A
  • Poor prognosis
  • Intellectual disability
  • Hydrocephalus
  • Clubfeet
  • Dislocated hips
  • Neurogenic bowel & bladder
  • Total flaccid paralysis
    – Below lesion level
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17
Q

Complications of Encephalocele

A
  • Poor prognosis
  • Intellectual disability
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18
Q

Most common craniofacial malformation of the newborn

A

Cleft Palate

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19
Q

Etiology of cleft palate

A
  • Genetic ~10% have a genetic variant
  • Environment (drugs)
  • Folate deficiency
    1. Maternal smoking
    2. Maternal obesity
    3. Syndromes
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20
Q

Nursing education for cleft palate

A
  • Difficult* for most infants to generate negative intraoral pressure to suck milk effectively from bottle or breast
  • Often can be bottle fed with formula or expressed breast milk with adaptive
    feeding equipment
    *Some infants may be able to breast feed & the
    soft breast tissue will fill gaps & create suction
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21
Q

Management of cleft palate

A
  • When Dx’d prenatally, recommend amniocentesis
  • High % of chromosomal abnormalities for this population
  • Surgical Repair
    – Primary lip repair at 3 months
    – Palate repair ~6 months
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22
Q

Phenylketonuria (PKU)

A

PKU is a d/o affecting the amino acid phenylalanine
* Infants lack phenylalanine hydroxylase (PAH)
* Causes Intellectual disability

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23
Q

Etiology of PKU

A
  • Most cases of PKU are caused
    by Phenylalanine hydroxylase
    deficiency
    – Autosomal recessive inheritance
  • ↑ serum phenylalanine: Disrupts brain growth,
    myelination & neurotransmitter synthesis
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24
Q

Phenylketonuria (PKU) S&S

A

– Seizures
– Microcephaly
– Behavioral abnormalities
– Irreversible intellectual disability
– Insidious onset (Signs & symptoms begin
after initiating feeds with breast milk or standard
formula)

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25
Q

PKU diagnosis

A
  • Newborn Screening
    – Mass spectrometry
    – ↑ phenylalanine concentration
    – ↓ tyrosine concentration
  • ↑ serum & urine concentration of phenylalanine
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26
Q

PKU management

A
  • Restrict dietary phenylalanine
  • Consume phenylalanine-free protein substitutes
  • Breastfeeding is encouraged under the
    supervision of an experienced metabolic
    dietitian & is alternated with phenylalanine-free formula feeding
    – Breast milk (↓ phenylalanine concentration)
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27
Q

Galactosemia

A

↑ serum galactose concentration 2° deficiency ≥ 1
* Galactose-1-phosphate uridyl transferase (GALT)
– MOST common & severe
* Galactokinase (GALK)
* Uridine diphosphate galactose 4-epimerase

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28
Q

Galactosemia etiology

A
  • Autosomal-recessive disorder
29
Q

Galactosemia presentation

A
  • Jaundice -74% *
  • Vomiting - 47% *
  • Hepatomegaly - 43% *
  • Failure to thrive – 29%
  • Poor feeding -23%
30
Q

Diagnosis of galactosemia

A

Done with newborn screening
* Serum/Blood
* Urine
(review specifics in slides)

31
Q

Galactosemia management

A

(+) screening test = change immediately to a soy-based infant formula (no galactose)
– Repeat screening test
– Minimize dietary galactose

32
Q

Hemoglobinopathies

A

A group of inherited disorders causing abnormal
production or structure of the hemoglobin molecule

33
Q

Hemoglobinopathies includes

A
  • Hemoglobin C disease
  • Hemoglobin S-C disease
  • Sickle cell anemia
  • Thalassemias
34
Q

Most common chromosome abnormality in liveborn infants

A

Trisomy 21 (Down Syndrome)

35
Q

Most common cause of intellectual disability

A

Trisomy 21 (Down Syndrome)

36
Q

Trisomy 21 (Down Syndrome) - 3 cytogenic variants

A
  1. 3 full copies of chromosome 21 – 94% of patients
  2. Translocation → 3 copies of the critical region for Down syndrome
  3. Mosaicism
37
Q

Features of Neonates with Trisomy 21 (Down Syndrome)

A
  1. Hypotonia
  2. ↓Moro reflex
  3. Anomalous ears
  4. Slanted palpebral fissures
  5. Dysplasia of mid-phalanx
  6. Flat facial profile
  7. Transverse palmar crease
  8. Excessive nape skin
  9. Hyperflexibility of joints
  10. Dysplasia of pelvis
38
Q

Clinical Presentation of Trisomy 21 (Down Syndrome)

A
  • Intellectual disability (IQ → 20-75)
  • Congenital cardiac defects (~50%)
  • Language delays in childhood
  • Atlantoaxial hypermobility
  • Characteristic facies
  • Hand anomalies
  • ↓ Height for age
  • 18-38% Psychiatric d/o
  • Impaired immune response
  • ↓ Thyroid function
  • Intestinal malabsorption
  • ↑ insulin resistance & DM
  • Premature senescence
  • Leukemia predisposition
39
Q

Trisomy 18 (Edwards Syndrome)

A
  • Trisomy 18 (47,+18)
    – 90% result form meiotic nondisjunction (Associated with advanced maternal age)
  • Translocation → chromosome 18
  • Trisomy 18 mosaicism (47,+18/46)
    2nd most common autosomal
    trisomy observed in live births
    – Most die prenatally
    – 50% die within 2 weeks
40
Q

Trisomy 18 (Edwards Syndrome) clinical presentation

A
  • Intrauterine growth restriction
  • Congenital heart disease >50%
  • Hypertonia
  • Prominent occiput
  • Small mouth
  • Micrognathia
  • Pointy ears
  • Horseshoe kidney
  • Flexed fingers
  • Overlapping fingers
  • GI system involvement ~75%
  • Meckel diverticulum & malrotation
  • Omphalocele
  • Severe Intellectual disability
  • Short sternum
41
Q

Trisomy 13 (Patau Syndrome) - two types

A
  1. Trisomy 13
    (47,+13)
    * meiotic error
    * Advanced maternal age
    * ~98.5% embryonic death
  2. Trisomy 13 mosaicism
    (47,+13/46)
    * Mitotic nondisjunction error
    * 3 copies of chromosome 13 in
    some cells & 2 in others
    * NOT related to maternal age
42
Q

Trisomy 13 (Patau Syndrome) clinical presentation

A
  • Micro/anophthalmia
  • Left lip &/or palate,
  • Postaxial polydactyly
  • Other common features: Incomplete development of forebrain & olfactory &
    optic nerves, severe intellectual disability,
    deafness
43
Q

~80% of patients may have with Trisomy 13 (Patau Syndrome) have

A
  • Ventricular Septal Defect
  • Patent Ductus Arteriosus
  • Atrial Septal Defect
  • Dextroposition
44
Q

Most common sex chromosome abnormality in females

A

Turner Syndrome

45
Q

Turner Syndrome presentation

A
  • Most Common → Short stature
    – ~50%, cardiac malformation
    – Short & webbed neck
    – Nonverbal learning d/o
    – Primary ovarian failure
    – Hypothyroidism
    – Hearing loss
    – Scoliosis
    – “Shield chest”
46
Q

Marfan Syndrome

A

Connective tissue disease
– Autosomal dominant
– genetic mutation
* Chromosome 15, FBN1 gene
– Leads to connective tissue weakness
– Pleiotropic effects

47
Q

Marfan Syndrome characteristics

A
  • Tall, thin stature
  • Arm span longer than height
  • Body ratio < 0.85 (nl 0.89-0.95)
  • Back pain
  • Vision problems
  • Cardiovascular problems
  • Spontaneous pneumothorax
48
Q

Klinefelter Syndrome characteristics

A

Males
* ↑ lower/upper body segment ratio
* Gynecomastia
* Small penis
* Sparse body hair
* ♀pubic hair pattern

49
Q

Primary Hypogonadism features in Klinefelter Syndrome

A
  • Gynecomastia
  • Infertility
  • Mild cognitive
    impairment possible
  • “Eunuchoid habitus”
50
Q

What does “Eunuchoid habitus” mean with klinefelter syndrome?

A
  • Tall, slim & underweight
  • Long legs & arms
    I.e., arm span exceeds height by 5+ cm
51
Q

Fragile X Syndrome

A

A genetic disorder characterized by intellectual disability & other neurodevelopmental disorders
(Esp. ADHD & Autism Spectrum Disorder)

52
Q

Fragile X Syndrome etiology

A
  • Caused by loss-of-function mutation on fragile X mental retardation 1 gene (FMR1)
    – located on long arm of X chromosome
  • X-linked dominant inheritance
53
Q

Fragile X Syndrome clinical presentation

A
  • Developmental delay
    – Speech delay (esp. boys
  • Motor delay
  • Behavioral concerns
  • Cognitive deficits
  • May have connective tissue dysplasia
  • Mitral valve prolapse *
54
Q

Four major groups of teratogens

A
  • Intrauterine infections: T.O.R.C.H. infxs
  • Medications & drugs
  • Physical causes
  • Maternal metabolic diseases
55
Q

TORCH

A

Toxoplasmosis
Other agents (congenital syphillis, zika, etc.)
Rubella
CMV
Herpes simplex

56
Q

Tetrad of findings in rubella

A
  1. Cataracts
  2. Heart defects
    * PDA & Pulmonary stenosis
  3. Deafness
  4. Intellectual Disability
57
Q

“Blueberry muffin purpura” is seen in

A

Rubella

58
Q

Cytomegalovirus (CMV) signs

A
  • Intrauterine growth retardation
  • Hepatosplenomegaly
  • Hemolytic anemia
  • Encephalitis
  • Microcephaly
59
Q

Antiviral agent of choice for neonatal
herpes simplex virus infections

A

Acyclovir

60
Q

Alcohol is an _____ CNS teratogen

A

IRREVERSIBLE

61
Q

Risk factors for Fetal Alcohol Syndrome

A

– Sibling with FAS
– Lived in an orphanage or been placed in foster care
– In psychiatric care
– Hx with CPS or the juvenile justice system

62
Q

3 characteristic facial features of Fetal Alcohol Syndrome

A
  1. Short palpebral fissures
  2. Thin vermillion border
  3. Smooth philtrum
63
Q

Fetal Alcohol Syndrome management

A
  • Early identification & intervention
  • Behavioral therapy
    – Individual & family
    – Parent training
64
Q

Fetal Hydantoin Syndrome

A

a characteristic pattern of mental and physical birth defects that results from maternal use of the anti-seizure (anticonvulsant) drug phenytoin (Dilantin) during pregnancy

65
Q

Fetal hydantoin syndrome facial features

A
  • Upturned nose
  • Mild midfacial hypoplasia
  • Long upper lip with thin vermilion border
    Other:
    B. Distal digital hypoplasia
66
Q

ACE-Inhibitor Fetopathy

A

ACE-inhibitors cause fetal hypotension

67
Q

Issue with Taking NSAIDS late in pregnancy

A
  • Inhibit prostaglandin synthesis
  • Taken late in pregnancy → ductus arteriosus closure & causes pulmonary hypertension
    Avoid NSAID use in pregnancy!
68
Q

Ionizing Radiation effect as a teratogen

A

– Tissue reaction to radiation are related to the dose
– The severity of the reaction ↑ as the dose ↑
– Adverse outcomes include:
– Abortion
– Growth restriction
– Congenital malformations
— Microcephaly
— Intellectual disability

69
Q

Maternal metabolic diseases (Diabetes Mellitus) can cause these things in newborns

A
  • Anencephaly
  • Encephalocele
  • Meningomyelocele
  • Spina bifida
  • Holoprosencephaly
  • Transposition of the great vessels
  • Cardiac defects (many)

Pediatrics Exam 1 (6 decks)

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