Falcon Review Pediatrics 5 Flashcards
How do environmental factors affect birth defects
10% of all birth defects or due to environmental factors
may be infectious agents, high-dose radiation, maternal metabolic disorders, mechanical forces in drugs
How does the time of the environmental factor affects birth defects
Before 12 weeks gestation: organogenesis, tissue morphogenesis defects
greater than 12 weeks gestation: retards fetal growth and tissue morphogenesis
Describe fetal alcohol syndrome
Alcohol is the most common major teratogen
signs and symptoms: 1. mental retardation 2. facies: – microcephaly – smooth philtrum – maxillary hypoplasia – short palpebral fissures – epicanthal folds 3. cardiac anomalies
what is the most common cause of single gene disorders
Sporadic mutations
Discuss trisomy 21
Most common genetic form of mental retardation
signs and symptoms: 1. Facies: – flat occiput – up slanting palpebral fissures – inner epicanthal folds – brushfield spots – protruding tongue 2. Hypotonia 3. Mental retardation 4. Clinodactyly, Simian crease 5. Endocardial cushion defects 6. Duodenal atresia
Discuss trisomy 18
Signs and symptoms:
gross deficiency
mental retardation
prominent occiput, low set ears, micrognathia
clenched hands with overlapping fingers, rocker bottom feet,
cardiac defects and > 50% – most commonly VSD
what is the inheritance and mutation for Marfan syndrome
Autosomal dominant
defect in gene for fibrillin-1
one of the signs and symptoms of Marfan syndrome
- tall stature, arachnodactyly, long limbs, hyper mobile joints
- Kyphosis, pectus excavatum/carinatum
- Lens subluxation
- Cardiac anomalies: aortic dilation/dissection
What is fibrillin
Glycoprotein that is essential for the formation of elastin fibers formed in connective tissues
What are the signs and symptoms of Turner syndrome
Short stature
gonadal dysgenesis (streak ovaries)
congenital lymphedema, broad chest, wide spaced nipples, low posterior hairline, webbed neck
cardiac anomalies: bicuspid aortic valve, coarctation most common
What is the treatment for Turner syndrome
Estrogen replacement
growth hormone
What are the signs and symptoms of Klinefelter syndrome
47 XXY
hypogonadism, infertility low IQ behavior problems tall, slim, long limbs gynecomastia
What is the treatment for Klinefelter syndrome
Testosterone replacement
What is the cause of fragile X syndrome
Mutation in the FM R1 gene (due to CCG tri-nucleotide repeats)
what are the signs and symptoms of fragile X syndrome
Large testicles, prominent jaw, protruding ears
Autistic features
– stereotypical behavior (hand flapping) and speech
What is genomic imprinting
Genes may be expressed differently depending on if they were inherited from the mother or the father
what is the defect with Prader Willi
Loss of paternal genetic material in location 15 Q
– loss of maternal material in the same location causes Angelman syndrome
what are the signs and symptoms of Prater willi
infant: – failure to thrive – hypotonia – poor suck – difficulty feeding – weak cry – genital hypoplasia
child/adolescent:
– mental retardation
– obesity
– hyperphagia
physical features:
– narrow bifrontal diameter
– almond eyes
– small, downturned mouth
What is Beckwith Weidmann
Duplicated chromosome 11
pancreatic B cell hyperplasia and excess availability of insulin like growth factor
What are the signs and symptoms of Beckwith Weidman
Macrosomia, macroglossia, prominent occiput and eyes Omphalocele Visceromegaly hypoglycemia
Discuss the pathophysiology of infants born to diabetic mothers
Maternal hyperglycemia causes fetal hyperglycemia which leads to hyperinsulinemia which functions to promote growth
What are the signs and symptoms of an infant born to a diabetic mother
Polycythemia large for gestational age hypoglycemia jaundice respiratory distress syndrome hypertrophic cardiomyopathy cardiac anomalies (VSD, AST, transposition) Lumbosacral agenesis
Discuss Pierre Robin sequence
Sequence of:
- Arrest in mandibular development during week 7-11 weeks of gestation
- Underdevelopment of the jaw
- Abnormal displacement of tongue
- Cleft palate
What are the signs and symptoms of Pierre Robin sequence
Micrognathia glossoptossis cleft soft palate poor feeding speech delay otitis media
30% will require tracheostomy until airway reaches adequate size
by age 4 or five, most children have normal profile as mandible catches up
What is the defects with Ehlers Danlos syndrome
Autosomal dominant defect in collagen synthesis; 10 subtypes
– type IV is associated with decrease in type III collagen and is associated with arterial rupture in visceral perforation
What are the signs and symptoms of Ehlers Danlos syndrome
Hyper extensible joints, poor wound healing
cardiac anomalies: MVP is common
blue sclera
What is the defect in phenylketonuria
Autosomal recessive defect in hydroxylation of phenylalanine to tyrosine
What are the signs and symptoms of phenylketonuria
Initially normal with complete presentation in first few months – fair-haired, fair skinned, blue eyes – eczematous rash – urine with musty odor – vomiting – severe mental retardation if untreated
How is phenylketonuria diagnosed
Newborn screening with high-level phenylalanine and normal level of tyrosine
elevated urine levels of phenylalanine metabolites (Guthrie test is qualitative/color change test for urinary metabolites)
What is the treatment for phenylketonuria
Diet low in phenylalanine
What are the signs and symptoms of a deficiency of galactose-1-phosphate uridyl transferase
Accumulation of galactose-1-phosphate
jaundice vomiting hypoglycemia cataracts hepatomegaly poor weight gain
What are the signs and symptoms of a deficiency in galactokinase
Cataracts
What is the defect associated with Lesch Nyhan syndrome
X-linked disorder of purine metabolism (deficiency of hypoxanthine guanine phosphoribosyl transferase leads to hyperuricemia)
What are the signs and symptoms of Lesch Nyhan syndrome
Overproduction of uric acid, neurological disability, behavior problems
– delayed motor development
– extrapyramidal signs
– self injury
How is Lesch Nyhan syndrome diagnosed
HGPRT enzyme analysis
What is the treatment for Lesch Nyhansyndrome
Allopurinol
behavior modification
What is the defect associated with Wilson disease
Autosomal recessive degeneration of basal ganglia/liver characterized by increased copper deposition
What are the signs and symptoms of Wilson’s disease
Kayser Fleisher rings
childhood: hepatic
– hepatomegaly, hepatitis or hepatic failure
adolescents: neuropsychiatric
– tremors, dysarthria, choreoathetosis, psychiatric symptoms, hepatomegaly
What are the steps to diagnosed Wilson’s disease
Low ceruplasmin (copper binding protein) level, elevated hepatic copper concentration
CT scan: hypo-denselesions in basal ganglia
What is the treatment for Wilson’s disease
Reduce copper intake
increase copper excretion (penicillamine)
fatal if untreated
What is the VATERAssociation
V – vertebral (hypoplastic or hemi)
A – anorectal (imperforate anus)
T – Tracheoesophogeal fistula (up to 70%)
R – renal/radial
C – cardiac (up to 75%-most common VSD, ASD, TOF)
L – Limb
What are the risk factors for toxoplasmosis
Undercooked meat
infected cat feces
What are the signs and symptoms of toxoplasmosis
Intracranial calcification hydrocephalus Courier retinitis/retinopathy jaundice hepatosplenomegaly
– infections early in the first trimester are less common but more serious
What is the treatment for toxoplasmosis
pyrimethamine
What is the treatment to a neonate born to hepatitis B positive mother
Infants should receive both hepatitis B immuno globulin and vaccine ASAP after delivery
What are the signs and symptoms of syphilis
Fetal or perinatal death and 40% of cases
early stage (before two years): – fever, anemia, failure to thrive, maculopapular rash (palms/souls), thrombocytopenia, hepatosplenomegaly, periostitis of long bones
late stage:
– skeletal (Sabre shin, Hutchison teeth, saddle nose)
what are the steps to diagnose syphilis
VDRL, RPR for screening
FTA – ABS for confirmation
What is the treatment for syphilis
Penicillin