Download Gastrointestinal System Defects

Chapter 21
The Newborn At Risk: Congenital
Disorders
Congenital Anomalies or Malformations
• May be caused by genetic or environmental factors
• Approximately 2% to 3% of all infants born have a major
malformation
• Include defects of the gastrointestinal, central nervous,
cardiovascular, skeletal, and genitourinary systems
Gastrointestinal System Defects
• Cleft lip and cleft palate
– Unilateral (one side of the lip)
– Bilateral (both sides)
• Esophageal atresia
– Absence of a normal body opening or the abnormal
closure of a body passage
Cleft Lip and Cleft Palate
• Cleft lip:Unilateral or bilateral
• Cleft palate
• Surgical repair
• Nutrition
• Post-operative
– Prevent aspiration
– Improve respiration
– Maintain fluid volume and nutritional intake
– Prevent injury and infection to surgical site
Gastrointestinal System Defects (cont.)
• Imperforate anus
– Rectal pouch ends blindly at a distance above anus
• Hernia
– Abnormal protrusion of a part of an organ through a
weak spot or other abnormal opening in a body wall
• Omphacele
Types of Hernias
• Diaphragmatic hernia
• Hiatal hernia
• Omphalocele
• Umbilical hernia
• Inguinal hernia
Central Nervous System Defects
• Spina bifida
– Failure of the posterior laminae of the vertebrae to
close
– Leaves an opening through which the spinal
meninges and spinal cord may protrude
• Hydrocephalus
– Excess of cerebrospinal fluid (CSF) within the
ventricular and subarachnoid spaces of the cranial
cavity
Hydrocephalus
Cardiovascular System Defects:
Congenital Heart Disease
• Cyanotic heart disease
– Implies an oxygen saturation of the peripheral
arterial blood of 85% or less
– Occurs when a heart defect allows any appreciable
amount of oxygen-poor blood in the right side of the
heart to mix with the oxygenated blood in the left
side of the heart
Classification of Heart Disease Based on
Blood Flow Characteristics
• Increased pulmonary blood flow (e.g., ventricular septal,
atrial septal, and patent ductus arteriosus)
• Obstruction of blood flow out of the heart (e.g.,
coarctation of the aorta)
• Decreased pulmonary blood flow (e.g., tetralogy of
Fallot)
• Mixed blood flow, where saturated and desaturated blood
mix in the heart, aorta, and pulmonary vessels (e.g.,
transposition of the great arteries)
Common Intracardiac Defects
• Ventricular septal defect
– Abnormal opening in the septum between the two
ventricles allowing blood to pass directly from the left
to the right ventricle
• Atrial septal defects
– Common heart anomalies that occur as isolated
defects or in combination with other heart anomalies
• Patent ductus arteriosus
– The ductus arteriosus remains patent, resulting in a
flooding of the lungs and an overloading of the left
heart chambers
Patent Ductus Arteriosus
Common Intracardiac Defects (cont.)
• Coarctation of the aorta
– A constriction or narrowing of the aortic arch or the
descending aorta usually adjacent to the ligamentum
arteriosum
• Tetralogy of Fallot
– Consists of a grouping of heart defects
• Transposition of the great arteries
– The aorta arises from the right ventricle instead of
the left, and the pulmonary artery arises from the
left ventricle instead of the right
Coarctation of the Aorta is a narrowing
of the aorta. It may present itself as
early as birth or in late childhood. The
signs are usually high blood pressure,
or a higher blood pressure in the arms
than in the legs. Older children
sometimes complain of leg cramps. Surgery to correct this will equalize the
blood pressure in the upper and lower
extremities. The surgery involves
opening the chest through a left
thoracotomy incision, removing the
narrowed portion of the aorta, and
reattaching the two ends of the aorta
together. Four Abnormal Conditions of Tetralogy
• Ventricular septal defect: large hole between ventricles
• Stenosis at or just below pulmonary valve
• Overriding aorta
• Right ventricular hypertrophy
Risk Factors for Newborn Heart Disease
• Maternal alcoholism
• Maternal irradiation
• Ingestion of certain drugs during pregnancy
• Maternal diabetes
• Advanced maternal age
Skeletal System Defects
• Congenital talipes equinovarus
– Deformity in which the entire foot is inverted, the
heel is drawn up, and the forefoot is adducted
• Congenital hip dysplasia
– Results from defective development of the
acetabulum with or without dislocation
Congenital Hip Dysplasia
• Incidence: 1-2/1000 live births
• Nine times more common in females
• The leg may appear shorter on the side of the dislocated
hip.
• The leg on the side of the dislocated hip may turn
outward.
• The folds in the skin of the thigh or buttocks may appear
uneven.
• The space between the legs may look wider than normal.
Congenital Hip Dysplasia
• Hip may be partially or completely dislocated
• Treatment: Pavlik’s harness first
– Used on infants up to 6 months
– May fix the problem
Spica cast used after closed reduction
Congenital Hip Dysplasia
• Parents should be taught routine cast care
• Observe infant for:
–
restriction of breathing
– Vomiting after eating
– Skin integrity
Genitourinary Tract Defects
• Hypospadias: Urethra terminates on the ventral surface
of the penis
• Epispadias: The urethra is on the dorsal surface of the
penis
• Exstrophy of the bladder: Anterior surface of bladder
lies open on lower abdomen
• Ambiguous genitalia: Abnormally or incompletely
formed external sexual organs
Inborn Errors of Metabolism
• Phenylketonuria
• Galactosemia
• Congenital hypothyroidism
• Maple syrup urine disease
• Homocystinuria
PKU
• Genetic
• Defect in the enzyme phenylalanine hydroxylase
• Body can’t process phenylalanine (Phe)
• Phe found in all protein foods, wheat, some fruit
• High levels toxic to brain
• Causes: vomiting, irritability, eczema, seizures,
psychological and behavioral issues, and severe mental
retardation
• Tested in hospital 2-3 days after birth
• Lofenalac and Phenyl-free: low phenylalanine formulas
Signs and Symptoms of Phenylketonuria
• Frequent vomiting
• Aggressive and hyperactive traits
• Severe, progressive retardation
• Convulsions may occur
• Eczema is common, particularly in the perineal area
• Characteristic musty smell to the urine
Galactosemia
• Genetic disorder
• Lack of liver enzyme to break down galactose
• jaundice, diarrhea, and vomiting develop and the baby
fails to gain weight
• If not detected immediately, it results in liver disease,
cataracts, mental retardation, and even death
• Death can occur as early as one to two weeks of age
from severe escherichia (E. coli) bacteria infections. E.
coli infections are common in untreated galactosemic
infants. Maple Syrup Urine Disease
• Genetic
• Inability to process the branched-chain amino acids
leucine, isoleucine, and valine
• Symptoms: food avoidance, maple syrup smelling urine,
vomiting, lethargy, seizures, coma
Signs and Symptoms of Congenital
Hypothyroidism
• Facial features include depressed nasal bridge, large
tongue, and puffy eyes
• Neck is short and thick
• Voice (cry) is hoarse
• Skin is dry and cold
• Bone development is slow
• Chronic constipation and abdomen enlargement occur
Chromosomal Abnormalities
• Down’s syndrome
• Turner’s syndrome
• Klinefelter’s syndrome
Signs and Symptoms of Down’s Syndrome
• Brachycephaly (shortness of
head)
• Slowed growth
• Slanted (almond-shaped)
eyes
• Short, flattened nose
• Thick tongue
• Dry, cracked, fissured skin
• Dry and coarse hair
Signs and Symptoms of Down’s Syndrome
(cont.)
• Short hands with an incurved fifth finger
• Single horizontal palm crease (simian line)
• Wide space between the first and second toes
• Lax muscle tone
• Heart and eye anomalies
• Greater susceptibility to leukemia
Turner’s Syndrome
• Genetic disorder
• Female without usual pair of 2 X chromosomes
• Cells are missing all or part of an X chromosome. The
condition only occurs in females. Most commonly, the
female patient has only one X chromosome. Others may
have two X chromosomes, but one of them is incomplete.
Sometimes, a female has some cells with two X
chromosomes, but other cells have only one.
• Possible symptoms in young infants include: Swollen
hands and feet; wide and webbed neck
Turner’s Syndrome
• A combination of the following symptoms may be seen in older
females:
• Absent or incomplete development at puberty, including sparse
pubic hair and small breasts
• Broad, flat chest shaped like a shield
• Drooping eyelids
• Dry eyes
• Infertility
• No periods (absent menstruation)
• Short height
• Vaginal dryness, can lead to painful intercourse
Klinefelter’s Syndrome
• Genetic disorder of males
• XXY trisomy
• Small testes, low testosterone levels in puberty
• Breast enlargement, reduced facial and body hair
• Taller than average
• Learning disabilities, speech and language
• May have behavior problems
Fetal Alcohol Syndrome
• Leading known preventable cause of mental retardation and birth
defects
• Small size for gestational age or small stature in relation to peers
• Facial abnormalities: narrow eye slits; flat and long upper lip;
underdeveloped midface; and flattened nose bridge
• Poor coordination
• Hyperactive behavior
• Learning disabilities
• Developmental disabilities (e.g., speech and language delays)
• Mental retardation or low IQ
• Problems with daily living
• Poor reasoning and judgment skills
• Sleep and sucking disturbances in infancy
Fetal Alcohol Syndrome
• Preventable disability
• Abstain from alcohol for 3 months before seeking
pregnancy
• Children with FAS may benefit from special programs