Pediatric Issues[1]

Pediatric Issues

“The moment of birth is the significant moral and legal point of the transition of judgment regarding the preservation of life.”

Congenital anomalies • Defects of the infant present at birth • Developmental or hereditary • Causes: - medication - diet/ vitamin intake - infections - recreational drugs - maternal conditions

Physical anomalies • Deformities of the limbs • Deformities of the heart - patent ductus arteriosus - ventricular septal defect - tetralogy of Fallot

• Deformities of the nervous system - spina bifda - anencephaly

Deformities of the limbs: • Whole bones may be absent or severely shortened; joints may be deformed or dysfunctional • amelia, ectrodactyly , phocomelia

Deformities of the heart: Patent ductus arteriosus • Failure of closure of the ductus arteriosus • Hypoxic infants • Flow of blood from the aorta to pulmonary artery • Poor tissue perfusion

Deformities of the heart: Ventricular septal defect • Incomplete formation of the ventricular septum • Mixture of oxygenated blood with deoxygenated blood going to the lungs • Ventricular hypertrophy

Deformities of the heart: Tetralogy of Fallot • 3-6/ 10,000 live births • Ventricular septal defect • Pulmonary stenosis • Overriding aorta • Right ventricular hypertrophy • “blue baby syndrome”

Deformities of the nervous system: Spina Bifida • results from the failure in the closing of the neural tube in the midline

Spina Bifida: “cleft spine” Three types: Spina bifida occulta Meningocele Spina bifida cystica or (myelomeningocele) – most severe http://faculty.washington.edu/chudler/spibi.html

Deformities of the nervous system: Anencephaly • Occurrence: 1/1000 live births • Failure in the closing of the cephalic end of the neural tube • Absence of major brain sections and the top portion of the skull

Chromosomal anomalies • reflect an abnormality of chromosome number or structure • occur when there is an error in cell division following meiosis or mitosis. • numerical and structural abnormalities.

Down's syndrome • Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome.

• Newborns with Down syndrome have an increased risk of having a condition called transient leukemia • Can be resolves without treatment • there is an increased risk of these infants to develop leukemia later in childhood, within the next 3 years.

Patau's syndrome • trisomy 13, additional chromosome 13 due to a non-disjunction of chromosomes during meiosis • disrupts the normal course of development, causing the characteristic features of Patau syndrome • the risk increases with maternal age at pregnancy • 1 in 5,000 live births

• • • • • • • • •

Physical Findings

mental & motor retardation polydactyly (extra digits) microcephaly low-set ears holoprosencephaly (failure of the forebrain to divide properly). heart defects meningomyelocele (a spinal defect) abnormal genitalia overlapping of fingers over thumb.

Edward's syndrome • Extra chromosome at chromosome 18 in a fetus or baby's cells - usually occurs before conception. • The rate of occurrence for Edwards Syndrome is ~ 1:3000 conceptions and 1:6000 live births, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. • Physical findings are similar to that of Patau’s Syndrome

Cri du chat • is a rare genetic disorder due to a missing portion of chromosome 5 • The infant sounds just like a meowing kitten, due to problems with the larynx and nervous system

Findings

• feeding problems because of difficulty swallowing and sucking • low birth weight, hypotonia, microcephaly, growth retardation, a round face with full cheeks, downslanting palpebral fissures, and cardiac defects (patent ductus arteriosus [PDA], tetralogy of Fallot).

Turner's syndrome • monosomy X • It occurs in 1 out of every 2500 female births • only one X chromosome is present and fully functional

Findings • • • • • • • •

Short stature Lymphoedema (swelling) of the hands and feet Broad chest (shield chest) and widely-spaced nipples Low hairline Low-set ears Reproductive sterility Amenorrhea, the absence of a menstrual period Increased weight, obesity

Turner Syndrome

Cri du Chat

Klinefelter's syndrome • Affected males have an extra X sex chromosome (XXY) • abnormal testicular development and reduced fertility • undiagnosed in most affected males