Complex Health
Challenges:
A Baby’s Life Story
Jessica Potts is a 32 year old woman who is
pregnant for the first time. She is working
full time
but she and her
partner, Susan,
are just making
ends meet with
the expenses for
IVF.
Jessica is an average height and weight
woman as is Susan. When they decided
to have a child it was
discovered that
Susan has
endometriosis and
fibroids and can not
get pregnant
therefore Jessica will
be carrying the child.
Treatment of infertility

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Usually does not fully prevent conception,
especially in mild to moderate cases
Infertility is more common in women with
severe forms of disease
Treatments are varied
Surgical treatments are superior to hormonal
or medical treatments when goal is
enhanced fertility
Assisted reproduction may be used
After being
unsuccessful
with artificial
insemination,
the couple opt
for in vitro
fertilization, Jessica is successful
with IVF therapy on the first
attempt.
IVF


In vitro fertilization
Successfully used in 1978
IVF: Who May Benefit?


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Women who have a blocked or
damaged fallopian tube
Mild problem with male
partner’s sperm
No cause identified for inability
to conceive
Patient’s who have tried IUI or
ovulation induction with no
success
IVF
Procedure
Fertility drugs:
-gonadotrophin-releasing hormones (GnRH)
-human-menopausal gonadtrophin (hMG)
-human chorionic gonadotrophin (hCG).
 Monitor blood hormone levels
 Ultrasound scan
 Remove ova through ultrasound-guided
transvaginal retrieval or laparoscopy

IVF Procedure Cont’d
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Eggs are mixed with sperm in dish and
cultured in incubator
Dish checked in 2 days to see if eggs have
been fertilized
Those kept are kept for a couple more
days and checked again
Fertilized eggs form ball of cells-embryo
Healthiest embryo is inserted into uterus
Taking progesterone all along to thicken
lining
IVF Procedure Cont’d

Progesterone given by injection, pessary (gel)
 Endometrium too thin IVF cycle abandoned
 Two embryos transferred
with thin catheter through cervix into
the uterus (via ultrasound)
 No more then three embryos
can be legally transferred
 Number of embryos
transferred depends on your
age and chances of success
 If successful able to
take a pregnancy test in 2
weeks
IVF

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IVF treatment takes 4-6 weeks to complete
Success rates vary
Advantages:


gives women with blocked, damaged, or missing
fallopian tubes a chance to have a baby
Disadvantages:

increased chances for multiple births, increase
risk for miscarriage and other complications,
hormones not closely monitored lead to ovarian
hyperstimulation syndrome, ectopic pregnancy
MULTIPLE PREGNANCY
Multiply pregnancy occurs when the use of ovulation
inducing medication triggers the release of multiple eggs,
which, when fertilized produce multiple embryos that are
then implanted
Case Study


The couple live in a small town
about half an hour from the city.
The medical clinic arranges for
Jessica’s prenatal care and any
tests and assessments she may
need for the duration of her
pregnancy and delivery.
Case Study

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Jessica and Susan are so happy to finally
be pregnant, they refuse most prenatal
tests.
They’re just so happy to have a baby in
their lives, they are not too concerned
about genetics and anomalies with the
baby.
They due, however, agree to have an
ultrasound.
Non-invasive Prenatal Tests
Doppler Ultrasound
This noninvasive test measures
blood flow in different parts of
your baby's body — such as the
umbilical cord, brain, liver, and
heart — to help your caregiver
assess your baby's health. It can
be done at the same time as an
ultrasound and uses the same
equipment.
Student presentation for more
information…
Case Study
Mrs. Potts goes into spontaneous labor at 3am at 39 weeks
gestation. Her labor and delivery are unremarkable and Jessica
and Susan welcome baby Isabelle at 5:56am. The couple
become concerned when the nurses start whispering about the
baby. Jessica keeps asking them what the problem is, but gets
no immediate response. One nurse finally tells Susan and
Jessica that the doctor will be in soon to talk to them.
Eventually, the doctor delivers the news that their precious
little baby girl infact has Down Syndrome. Jessica and Susan
react with anger. They are dissappointed that they didn’t go
through with the serum screening tests however, they must
move forward now.
Down Syndrome
Down Syndrome …
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Is the most frequently occurring
chromosomal disorder
Is universal across race and gender
Is caused by an error in cell division
Occurs at conception
Why it occurs is unknown
History

John Langdon Down (the father of down
syndrome)


1866: published an accurate description of a
person with down syndrome
Jerome Lejeune

Identified down syndrome as a chromosomal
anomaly
Incidence

Incidence increases with age

In Canada Down Syndrome occurs in approximately
1 in 800 live births

Increases to 1 in 100 in second birth if your first
child had Down Syndrome

In the US more than 350 000 people have Down
Syndrome
Incidence of Down
Syndrome
Maternal Age
Incidence of Down
Syndrome
20
25
30
35
40
45
49
1 in 2000
1 in 1200
1 in 900
1 in 350
1 in 100
1 in 30
1 in 10
Trisomony 21
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Also called
Down’s Syndrome
Specific
characteristics
Chromosome
abnormality
Genetic testing
Down Syndrome

The presence of 47 chromosomes instead of
46

More specifically it is the presence of extra
genetic material associated with the 21st
chromosome. (Trisomy)

Caused by an error in cell division
Mitosis

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
The process of cell division involved in all cell
growth, differentiation, and repair
The chromosomes of each cell duplicate
Two daughter cells are produced

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They are diploid (contain 46 chromosomes in 23
pairs)
Occurs in all cells except for the oocytes and
sperm
Mitosis
Meiosis
Occurs in reproductive cells
There is a reduction in the number of chromosomes
occurs (end up with 23 chromosomes)
 Oocytes and sperm are referred to as being haploid
(contain a single copy of each chromosome)
 The paired chromosomes come together in
preparation for cell division, portions cross over and
genetic material is exchanged

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recombination creates greater diversity in oocytes and
sperm
Meiosis
Nondisjunction

Accounts for approximately 95% of down syndrome cases

A pair of chromosomes may fail to separate completely creating a sperm
or oocyte that contains either 2 copies or no copies of a particular
chromosome.
Trisomy: when there are 2 copies
 Monosomy: when there are no copies


Prior to or at conception, a pair of 21st chromosomes in either the sperm
or the egg fails to separate. As the embryo develops, the extra
chromosome is replicated in every cell of the body
Trisomy

Down syndrome is a form of
trisomy

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there is extra genetic material on the
21st chromosome
Trisomy can occur on any
chromosome but the only forms
that are frequently seen in live
births are on the 13, 18, and 21
chromosome
Mosaicism

Mosaicism occurs when nondisjunction of
chromosome 21 takes place in one of the initial cell
divisions after fertilization causing a person to have
46 chromosomes in some of their cells and 47 in
others

This is the least common form of Down syndrome

accounts for only 1 to 2 percent of all cases
Translocation

Occurs when part of chromosome 21 breaks off during cell division and
attaches to another chromosome, usually chromosome 14. While the total
number of chromosomes in the cells remains 46, the presence of an extra
part of chromosome 21 causes the characteristics of Down syndrome

Maternal age is not linked to the chance of having a baby with
translocation. Most cases are sporadic, chance events, but in about one
third of translocation cases, one parent is a carrier of a translocated
chromosome. For this reason, the chance of translocation in a second
pregnancy is higher than that seen in nondisjunction.

Accounts for 3 to 4 percent
Appearance
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low nasal bridge
epicanthal folds (eyes)
protruding tongue
low set ears
poor muscle tone (hypotonia)
short stature
single crease across palm of hand
slightly flattened facial profile
Characteristics
& Conditions
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3/4 fetuses are spontaneously aborted
20% die before the age of 10 r/t
complications
have and IQ ranging from 25-50
1-3 to1-2 have congenital heart defects
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most common are an atrioventricular septal
defect, persistant ductus arteriosus, and
tetraology of fallot
decreased ability to fight respiratory
infections
increased susceptibility to leukemia
usually develop Alzheimer symptoms by the
age of 40
increased risk for thyroid and vision
problems
usually accompanied by some level of mental
retardation
average life expectancy is 55
Treatment
Down syndrome is not treated
 The symptoms are treated
 It is important to encourage individuals with down syndrome
to develop their gifts and talents
 Early intervention programs can be initiated
 Many individuals with down syndrome go to school
(elementary, secondary, and post-secondary) and some adults
are capable of working in the community.
 With proper care individuals with down syndrome can lead
healthy lives

Diagnosis

Prenatal screening (usually diagnosed here,
but not in Jessica’s case)
maternal serum screening
 ultrasound (sonogram) screening

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Diagnostic testing
chorionic villus sampling (CVS)
 amniocentesis
 percutaneous umbilical blood sampling (PUBS)

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Diagnosis is made at the birth of baby
Isabelle
Along with the diagnosis of
Down’s

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The doctor informs Susan and Jessica that
he would like to run some tests on baby
Isabelle as it appears her head is
abnormally large
Jessica and Susan are panicked at this
point and the nurse tries to comfort the
couples’ anxiety
The doctor refers to a neurologist who
examines baby Isabelle

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The neurologist is a stoic man in his late
60’s and doesn’t believe in same-sex
couples having children
He bluntly tells Susan and Jessica the his
diagnosis of baby Isabelle and refers them
to community services for follow up
Isabelle has…
What is the Diagnosis?
Hydrocephalus
Structure of the Brain
Ventricles of the Brain
A Lateral View
An Anterior View
Ventricles of the Brain

Lateral Ventricles
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Each cerebral hemisphere contains a large lateral ventricle: Right and Left ventricle or
First and Second ventricle
The septum pellucidum separates the two lateral ventricles
Third Ventricle
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Located in the diencephalons
Two lateral ventricles are not directly connected to each other
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communicates with the third ventricle through an interventricular foramen (foramen of
Monro)
Third and Fourth ventricle are connected through a slender canal known as the
mesencephalic aqueduct (the aqueduct of Sylvius) located in the mesencephalon
Fourth Ventricle
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Superior portion lies between the posterior surface of the pons and the anterior surface
of the cerebellum
Extends into the superior portion of the medulla oblongata
Then narrows and becomes continuous with the central canal of the spinal cord
Ependymal Cells
Ependymal Cells
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Central canal: narrow passageway in the spinal cord
In the brain, the passageway forms the ventricles
The central canal and ventricles are lined by a cellular layer
of epithelial cells called the ependyma and are filled with
cerebrospinal fluid (CSF)
During embroyonic development and early childhood, the
free surface of ependymal cells are covered with cilia
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The cilia persists in adults only within the ventricles of the brain,
where they assist in the circulation of CSF
In other areas, the ependymal cells typically have scattered microvilli
Function:
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participate in the secretion of the CSF
sensory functions, such as monitoring the composition of the CSF
The Cranial Meninges
Layers:

Cranial dura mater:
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Arachnoid:
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Consists of outer (Endosteal) and inner (Meningeal) fibrous layers
Layers are typically separated by a slender gab that contains tissues fluids and blood
vessels, including several large venous sinuses (Dural sinus).
The veins of the brain open into these sinuses, which deliver the venous blood to the
internal jugular veins in the neck.
Consists of the arachnoid membrane, an epithelial layer, and the cells and fibers of the
arachnoid trabeculae that cross the subarachnoid space to the pia mater.
Arachnoid membrane covers the brain, providing a smooth surface that does not follow
the brain’s underlying folds.
Pia mater:


Sticks to the surface of the brain
It extends into every fold, and accompanies the branches of cerebral blood vessels as
they penetrate the surface of the brain to reach internal structures.
Cranial Meninges
The Cranial Meninges
Function:

To protect the brain
Dural folds provide additional stabilization and
support to the brain.
 Dural sinuses are large collecting veins
 Three layers of dural folds:
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Falx cerebri:
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Tentorium cerebelli:
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Superior sagittal sinus and the inferior sagittal sinus (venous
sinuses) lie within this dural fold.
Transverse sinus lies within the tentorium cerebelli.
Falx cerebelli
Dural Folds
Cerebrospinal Fluid
Function:

Completely surrounds and bathes the exposed surfaces of the
CNS and has several important functions:

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Cushioning Delicate Neural Structures
Supporting the Brain:
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The brain is suspended inside the cranium and floats in the CSF.
A human brain weighs about 1400 g in the air, but only about 50 g when
supported by the CSF.
Transporting Nutrients, Chemical Messengers, and Waste Products:
Ependymal lining is freely permeable (exception: choroids plexus)
 CSF is in constant chemical communication with the interstitial fluid of
the CNS

CSF continued
Formation of CSF:
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Choroid plexus: consists of a combination of specialized ependymal cells
and permeable capillaries for the production of cerebrospinal fluid.
Location:
Two extensive folds of the choroid plexus originate in the roof of the third
ventricle and extend through the interventricular foramina. These folds
cover the floors of the lateral ventricles.
 In the inferior brain stem, a region of the choroid plexus in the roof of the
fourth ventricle projects between the cerebrellum and the pons.
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Specialized ependymal cells, interconnected by tight junctions, surround
the capillaries of the choroid plexus.
The ependymal cells secrete CSF into the ventricles

Also remove waist products from the CSF and adjust its composition over
time.
Circulation of Cerebral Spinal
Fluid
CSF continued
Circulating CSF

Choroid plexus produces CSF at a rate of about 500 ml/day

Total volume of CSF at any moments is approximately 150 ml/day

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entire volume of CSF is replaced every eight hours
CSF circulates from the choroid plexus through the ventricles and the central canal of the
spinal cord
As the CSF circulates, diffusion between it and the interstitial fluids (the extracellular fluids
in most tissues is called interstitial fluid) of the CNS is unrestricted between and across the
ependymal cells.
The CSF reaches the subarachnoid space through the two lateral apertures and the single
median aperture, opening in the roof of the fourth ventricle.
CSF then flows through the subarachnoid space surrounding the brain, spinal cord, and
cauda equine.
Fingerlike extensions of the arachnoid membrane, called arachnoid villi, penetrate the
meningeal layer of the dura mater and extend into the superior sagittal sinus.
In adults, clusters of villi form large arachnoid granulations.
CSF is absorbed into the venous circulation at the arachnoid granulations where it is filtered
and discarded by the body.
The Blood Brain Barrier
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Neural tissue in the CNS is isolated from the general circulation by the bloodbrain barrier
This barrier exists because the endothelial cells that line the capillaries of the CNS
are extensively interconnected by tight junctions
These junctions prevent the diffusion of materials between adjacent endothelial
cells
Only lipid-soluble compounds can diffuse across the endothelial cells membranes
into the interstitial fluid of the brain and spinal cord
Astrocyte Cells:

Restricted permeability characteristics of the endothelial lining of brain capillaries
are depended on chemicals secreted by the astrocytes

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
cells that are in close contact with CNS capillaries
Outer surfaces of the endothelia cells are covered by the processes of astrocytes
Release chemicals that control the permeability of the endothelium to various
substances
If damaged or stop stimulating the endothelial cells, the blood-brain barrier
disappears.
Astrocyte Cells
Blood-CSF Barrier

Choroids plexus:

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Blood-CSF barrier:

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
Substances do not have free access to the CNS
Specialized ependymal cells interconnected by tight junctions, surround the
capillaries of the choroids plexus
Transport across the blood-brain and blood-CSF barriers is selective and
directional


Not part of the neural tissue of the brain therefore no astrocytes are in
contact with the endothelial cells.
As a result, capillaries in the choroids plexus are highly permeable
Even the passage of small ions (sodium, hydrogen, potassium, or chloride) is
controlled
Some organic compounds are readily transported, and others cross only in
minute amounts.



Susan and Jessica and angry and bitter
They want to know why this diagnosis of
Hydrocephalus wasn’t caught sooner? Why
were they missed?
An ultrasound will normally show that the
fetus’ fontanelle is bulging, and that the
head circumference is larger than normal
for the gestational age
What is Hydrocephalus?

The term hydrocephalus is derived from two words:




A condition in which excess CSF builds up within the
ventricles of the brain or in the subarachnoid space and may
increase pressure within the head
Can occur at any age



"hydro" meaning water
"cephalus" referring to the head
most common in infants and adults age 60 and older
In most instances, hydrocephalus is a lifelong condition in
that the patient is treated rather than "cured"
If left untreated in the infant, they can suffer from some
degree of mental retardation and/or motor dysfunction.
Epidemiology

In the United States, a little over 1 in 1000 births are affected by hydrocephalus.
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As high as 1 in 500 births.
Hydrocephalus is one of the most common "birth defects" and afflicts in excess of
10,000 babies each year.
Studies by the World Health Organization show that one birth in every 2,000
result in hydrocephalus.
There are 70,000 discharges a year from hospitals in the United States with a
diagnosis of hydrocephalus.
More than 50% of hydrocephalus cases are congenital.
As many as 75% of children with hydrocephalus will have some form of motor
disability.
Over the past 25 years, death rates associated with hydrocephalus have decreased
from 54% to 5%; intellectual disabilitity has decreased from 62% to 30%.
Ocular gaze and movement disorders are found in approximately 25 to 33% of
children with hydrocephalus.
About 80% of hydrocephalus patients are born with other defects.
Types of Hydrocephalus
Congenital: when the condition exists at birth
Acquired: when it occurs as the result of a trauma to the brain after
birth.
Pathophysiology
Impaired absorption of CSF from the subarachnoid space occurs when an obstructive
process disrupts the flow of CSF through the subarachnoid space.
The fluid does not reach the convex portion of the cerebrum, where the arachnoid
granulations are located.
With acute hydrocephalus, there is increased ICP that has a rapid onset. The patient
can deteriorate rapidly into a deep coma if it is not treated promptly.
ICP rises if production of CSF exceeds absorption. This occurs if CSF is
overproduced, resistance to CSF flow is increased, or venous sinus pressure is
increased.
CSF production falls as ICP rises. Compensation may occur
through transventricular absorption of CSF and also by absorption
along nerve root sleeves.
Temporal and frontal horns dilate first, often asymmetrically.
This may result in elevation of the corpus callosum, stretching or
perforation of the septum pellucidum, thinning of the cerebral
mantle, or enlargement of the third ventricle downward into the
pituitary fossa (which may cause pituitary dysfunction).
Causes of Hydrocephalus
This is grouped into 3 main causes:
1. Excessive secretion of CSF by the choroid plexus as in cases of
choroid plexus papilloma (rare, bening tumour) or carcinoma.
This is a rare cause.
Choroid Plexus Papilloma
2. Blockage to CSF circulation. This could be at any level of the CSF
circulation.
•It could be at the level of the foramen of Monro where we there is
unilateral or bilateral coverage of the foramen of Monro giving dilatation
of one or both lateral ventricles.
•This is commonly seen in the colloid cyst and tumours of the third
ventricle.
• Suprasellar lesion as suprasellar arachnoid cyst or hypothalamic tumours
(craniopharyngioma; congenital pituitary tumour).
• Posterior fossa tumours are a common cause of obstructive
hydrocephalus due to blockage of the 4th ventricle.
• Medulloblastoma, cystic astrocytoma and ependymoma can all lead to
obstructive hydrocephalus.
3. Poor secretion of CSF into the venous sinuses caused by scarring of the
arachnoid villi and is commonly seen after meningitis or hemorrhage.
Forms of Hydrocephalus
Forms of Hydrocephalus
Communicating Hydrocephalus
Noncommunicating Hydrocephalus
Obstructive hydrocephalus
Arrested hydrocephalus
Description
(non-obstructive hydrocephalus) caused by
inadequate absorption of CSF when the
ventricular pathways are not obstructed.
(obstructive hydrocephalus) caused by
blockage in the ventricular pathways through
which CSF flows.
Results from obstruction of the flow of CSF
(intraventricular or extraventricular). Most
hydrocephalus is obstructive, and the term is
used to contrast the hydrocephalus caused by
overproduction of CSF.
Stabilization of known ventricular
enlargement, probably secondary to
compensatory mechanisms. These patients
may decompensate, especially following
minor head injuries.
Causes of Hydrocephalus
Congenital Causes in Infants and
Children
 Characterized by an increased volume of CSF
May be caused by:
 A blockage within the ventricular system in which the CSF flows
An imbalance in production of the CSF
Reduced reabsorption of the CSF that results in enlargement of the
ventricles, and increased ICP
 This pressure within the ventricular system pushes and compresses
the brain against the skull cavity.
 Before the cranial sutures fuse, the skull can increase to accommodate
the additional space-occupying volume to preserve neuronal function.
Stenosis of the Aqueduct of Sylvius
Due to malformation: This is responsible for 10% of all cases of hydrocephalus
in newborns, and is the most common cause.
Bickers-Adam Malformation
This is an X-linked hydrocephalus. It is characterized by stenosis of the
aqueduct of Sylvius, severe mental retardation, and in 50% by an adductionflexion deformity of the thumb.
Dandy-Walker Malformation
• This affects 2-4% of newborns with hydrocephalus.
•Dandy-Walker Malformation is a rare malformation of the brain that is
present at birth (congenital).
•Dandy-Walker Malformation is a form of "Obstructive" or "Internal
Noncommunicating Hydrocephalus," meaning that the normal flow of
cerebrospinal fluid is blocked resulting in the widening of the ventricles.
•It is characterized by an abnormally enlarged space at the back of the brain
(cystic 4th ventricle) that interferes with the normal flow of cerebrospinal
fluid through the openings between the ventricle and other parts of the brain
(foramina of Magendia and Luschka).
•Excessive amounts of fluid accumulate around the brain and cause
abnormally high pressure within the skull, swelling of the head (congenital
hydrocephalus), and neurological impairment. Motor delays and learning
problems may also occur.
Arnold-Chiari Malformation
• Chiari malformations (CMs) are structural defects in the
cerebellum, the part of the brain that controls balance.
• The cerebellum and brainstem can be pushed downward.
• The resulting pressure on the cerebellum can block the flow of
cerebrospinal fluid and can cause a range of symptoms including
dizziness, muscle weakness, numbness, vision problems,
headache, and problems with balance and coordination.
• Is accompanied by a myelomeningocele-a form of spina bifida
that occurs when the spinal canal and backbone do not close
before birth, causing the spinal cord to protrude through an
opening in the back.
•This can cause partial or complete paralysis below the spinal
opening, and hydrocephalus.
Agenesis of the Foramen of Monro
• AKA Interventricular foramen.
• Narrowing of the foramen of Monroe.
• Since the foramen narrows, this leads to increased pressure
to push the CSF through the foramen of Monroe.
Congenital Toxoplasmosis
• Group of symptoms and characteristics caused by infection of the fetus with
the organism Toxoplasma gondii.
• Fetal infection results when a nonimmune pregnant woman is initially
infected with toxoplasmosis (from certain foods, cat feces, or if she has a
history of toxoplasmosis during previous pregnancies).
• Congenital toxoplasmosis is characterized by damage to the eyes, nervous
system, skin, and ears.
• Can occur as a result of ingestion of raw or inadequately cooked infected
meat, ingestion of oocysts, an environmentally resistant form of the organism
that cats pass in their feces, with exposure of humans occurring through
exposure to cat litter or soil (e.g., from gardening or unwashed fruits or
vegetables), and a newly infected pregnant woman passing the infection to
her unborn fetus.
MRI’s: Congenital Causes of
Hydrocephalus
Arnold-Chiari
Malformation
Dandy-Walker
Malformation
Acquired Causes in Infants and
Children
Mass lesions account for 20% of all cases of hydrocephalus in
children. These are usually tumors (eg, medulloblastoma,
astrocytoma), but cysts, abscesses, or hematoma also can be the
cause.
Intraventricular hemorrhage can be related to prematurity,
head injury, or rupture of a vascular malformation.
Infections: Meningitis (especially bacterial) and, in some
geographic areas, cysticercosis can cause hydrocephalus.
•Increased venous sinus pressure: This can be related to
achondroplasia, some craniostenoses, or venous thrombosis.
Iatrogenic (result of medical interventions): Hypervitaminosis
A, by increasing secretion of CSF or by increasing permeability
of the blood-brain barrier, can lead to hydrocephalus.
Idiopathic
Signs and Symptoms of Hydrocephalus
Clinical features of hydrocephalus
are influenced by the following:
 Patient's age
 Cause
 Location of obstruction
 Duration
Rapidity of onset
Symptoms in Infants
 Poor feeding
 Irritability
 Reduced activity
 Vomiting
 Seizures
 Bulging fontanelle
Thin, shiny skin over fontanelles
Papilledema (swelling of the eye’s nerves) and later optic
atrophy
Symptoms in Children
 Slowing of mental capacity
 Headaches (initially in the morning) that are more significant than in
infants because of skull rigidity
 Neck pain suggesting tonsillar herniation
 Vomiting, more significant in the morning
 Blurred vision - Consequence of papilledema (swelling of the eye’s
nerves) and later of optic atrophy
 Double vision - Related to unilateral or bilateral sixth nerve palsy
(affects abducens cranial nerve, and eyes cannot turn outward beyond midline,
double vision also occurs, but disappears when one eye is closed)
 Stunted growth and sexual maturation from third ventricle
dilatation: This can lead to obesity and to precocious or
delayed onset of puberty.
 Difficulty in walking secondary to spasticity: This affects
the lower limbs preferentially because the periventricular
pyramidal tract is stretched by the hydrocephalus.
Drowsiness
Physical Assessment of A Neonate
*Similar to adult head-to-toe
assessment, with the following exceptions:*
• Vital signs
• Skin and hair – Lanugo, vernix caseosa (thick, cheezy
protective integumentary deposit that consists of sebum, and
shed epithelial cells). Stork bites (back of neck, lower
occiput, upper eyelids, and upper lip).
• Head, Face and Eyes – Infants have anterior or posterior
fontanelles, and they should not bulge or sink.
• Newborns don’t produce tears until 2-3 months.
• The Eustachian tube is more horizontal, wider, and
shorter, thus can increase likelihood of middle ear
infections.
• Thorax and Lungs: up to 3-4 months abdominal
breathing. Measure chest circumference.
• Cardiovascular: Infants have a higher circulating
blood volume
• Abdomen: Liver is proportionately larger.
• Musculoskeletal: Bone growth ends at 20 (when
epiphysis closes).
• Neurological: Apgar Scores – Method to reassess need for
newborn resuscitation in the delivery room.
• Given at 1 and 5 minutes following birth. Score of 8-10
Newborn in good condition, 4-7 Moderately depressed
newborn, 0-3 indicates severe depression, and needs
immediate resuscitation (See overhead)
• Reflexes : Rooting, sucking, palmar grasp, tonic neck,
stepping, plantar grasp, Babinski’s, and Moro.
• Genitourinary System: During infancy, the bladder is located
in between the symphysis pubis and the umbilicus. Monitor I &
O.
• Gastrointestinal: Meconium stools, then after 3 days, yellow
coloured. Important to monitor bowel function and I & O to
ensure that infant does not become dehydrated.
• Inspection of genitalia
Clinical Manifestations
Upon Physical Assessment
Infants
 Head enlargement: Head circumference is in the 98th
percentile for the age or greater.
 Dysjunction of sutures: This can be seen or palpated.
 Dilated scalp veins: The scalp is thin and shiny with
easily visible veins.
 Tense fontanelle: The anterior fontanelle in infants who
are held erect and are not crying may be excessively tense.
Setting-sun sign: In infants it is characteristic of
increased ICP. Both ocular globes are deviated
downward, the upper lids are retracted, and the white
sclerae may be visible above the iris.
Increased limb tone: Spasticity affects the lower
limbs. The cause is stretching of the periventricular
pyramidal tract fibers by hydrocephalus.
Children
 Papilledema: if the raised ICP is not treated, this
can lead to optic atrophy and vision loss.
 Failure of upward gaze: This is due to pressure on
the tectal plate through the suprapineal recess.
 Macewen sign: A "cracked pot" sound is noted on
percussion of the head.
 Unsteady gait: This is related to spasticity in the lower
extremities.
Large head: Sutures are closed, but chronic increased ICP
will lead to progressive abnormal head growth.
 Unilateral or bilateral sixth nerve palsy (affects abducens
cranial nerve, and eyes cannot turn outward beyond midline,
double vision also occurs, but disappears when one eye is
closed) is secondary to increased ICP.
Getting the Diagnosis
With newborns, hydrocephalus is detected almost
immediately as the child's head may be larger than
normal (macrocephaly). However, with older
children or adults, hydrocephalus usually starts to
reveal itself with a variety of signs and symptoms
weeks or months before it is detected.
 It may be detected by signs and symptoms of
increased cranial pressure.

CT and MRI
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X-Rays do not provide enough contrast to see the tissues of the brain.
CT  Clearer pictures of the bodies organs, tissues and bones. Approx. 25 minutes.
MRI  Internal structures can be seen. Approx. an hour in length.
 Provide a clearer view of gray and white matter of the brain, as well
as the vascular system. Primary use for neurosurgeons.
 CT and MRI scans take pictures of the complete cranial and
intracranial anatomy, including the subarachnoid spaces and the
structures of the posterior fossa.
 Taken laterally and sagitally (front-back)
Diagnosis of Hydrocephalus

Abnormal Head Growth (Macrocephaly)
 Infants and small children primary indicator. Kids sutures have not fused
together yet.
 Continue to monitor the growth of the child’s head until the child reaches
the age of 6 or 7.
 Signs and Symptoms:
 Irritable
 High pitched cry/scream
 Split sutures of the skull
 Distended veins in the scalp-bulging or widening of the fontanels
 Absence of up ward's gaze, known as “sun setting”  usually in acute
non-communicating hydrocephalus.
 Impaired lateral gaze (Sun setting one or both eyes)
 Loss of vision-weakness or spasticity of limbs.
Initial Diagnosis

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Initially, when one or more symptoms become
evident.
Infant  Child’s head is bulging or larger than
normal
Child  Painful headaches, gait disorder or vision
problems
Should be referred to a neurosurgeon
Neurological Examination  History of milestones,
as well as a physical examination for neurological
deficits.
Full-Term Infant


1 year or older  Examine the infant to see if they are reaching mental and
physical developmental milestones.
Mental Milestones:

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Is your infant communicating verbally?
Is your infant performing well in school?
Has your infant fallen behind his peers in recent months?
Is your child having a hard time remembering things?
Have you noticed any changes in personality in the last few weeks/months?
Continued…

Physical Milestones:
 Has your child started to show signs of walking by the time they were 1?
 Is your infants gait steady or unbalanced?
 Does your child drift to the side while they walk?
 Get the child to balance on one foot, with their eyes closed. Place both
feet together side by side to maintain balance.
 Place the index finger in front of the face and ask to follow movement.
(testing for paralysis of the abducens- 6th cranial nerve). Controls side to
side (lateral) movement.
 Walk heal-to-heal. If child has difficulty could be an indicator of
pressure on the cerebellum.
 Check plantar, Babinski reflex.
 If the big toe moves upward, results an extensor response or Babinski
reflex. Babinski reflex is a clear indication of some form of brain or spinal
cord disease. Usually skip this till the infant is at least 1 year old because
it is usually positive whether the infant has it or not.
 Pronator drift: Close eyes while standing, extend both arms in front with
palms up. See if one arm wavers or drifts. Indication of injury to the
motor areas of the brain.
Effects on Family Dynamics
Emotions can range from worry to fear, as
well as resentment and jealousy.
 Children also have active imaginations.
 Usually their emotions are worse than their
reality perceives.
 Talk through their fears.
 Siblings may feel completely overwhelmed.
 Resentment and jealousy are common
feelings experienced by siblings.
 Let them know they are loved and valued.

Preventing Childhood
Hydrocephalus



Protecting the head of the infant or child from injury by handling the
child carefully may help prevent the development of injury induced
hydrocephalus.
Prompt treatment of infections such as meningitis and others associated
with hydrocephalus may reduce the risk of developing the disease.
Women who take cytomegalovirus or toxoplasmosis acquired by a mother
during pregnancy may cause hydrocephalus. May reduce the risk of being
infected by toxoplasmosis by:
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Cooking meet and veggies carefully.
Cleaning contaminated knives and cutting services properly.
Avoid handling cat litter, or wearing gloves when cleaning the litter box.
Lymphocytic choriomengitis virus (LCV) which pet rodants (mice) often carry
can lead to hydrocephalus in pregnancy.
Infection with chickenpox or mumps during or right after pregnancy may also
lead to hydrocephalus in the baby.
Role of Nurses

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Bedside nurse is in a unique position to have an impact on patients’ and
families’ lives.
Nurse needs to empower and educate the family of the importance of
aseptic technique when taking care of the child’s surgical site.
Stress the importance to the family that their child should maintain
optimal health with proper nutrition and exercise.
Needs to supply the families with life-saving information of the signs and
symptoms of a shunt malfunction and or infection.
Multidisciplinary Workers
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Nutritional Support
Physical Therapy
Occupational Therapy
Neurosurgeon
Pediatrician
Nurses
Ophthalmologist
Isabelle’s scalp, over the anterior fontanelle, is
shiny and thin and the tiny veins are
prominent. Isabelle is then sent to the NICU
to be closely monitored for complications
associated with increased intracranial
pressure. Exactly 2 weeks after Isabelle was
born, she undergoes surgery to insert a VP
shunt. The surgery went very well with no
complications.
Ventriculo-Peritoneal Shunts
In Infants
Hydrocephalus Shunt Statistics
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There are 25,000 shunt operations performed each year in the United
States. Of those, some 18,000 are initial shunt placements.
Some 85% of people with shunts have had at least two shunt operations.
Studies show that the risk of shunt failure in an infant's first year is 30%.
Shunts are revised about 2 times in the first ten years of use per patient.
95% of shunt infections occur within 3 to 5 days of surgery.
The reported frequency of shunt infection varies from 1.5 to 39% with an
average of 10 to 15%.
More than 50% of staphylococcal infections occur with in 2 weeks of the
operation, and 70% of infections occur within 2 months.
The overall complication rate of CSF shunts remains quite high: 25 to
60%.
Shunt malfunctions occur in about two to 40% of cases.
What is a Ventriculo-Peritoneal
Shunt?



Primary Goal of a VP shunt: To ensure on a regular basis that the shunt continues
to function!
A VP is a long, plastic tube that allows fluid to drain from the brain to another
part of the body (Peritoneal Cavity). This drainage prevents increased pressure on
the brain.
VP Shunt has at least three parts:
 1) Ventricular Catheter: Goes in the brain
 2) Valve: It controls the pressure within the brain.
 3) Distal Catheter: Is underneath the skin and connects the other parts of the
VP shunt to a space within the body, usually the abdominal cavity (peritoneal
cavity). This may also be placed behind the infant’s ear.
 The fluid flows through this tube from the brain into the abdominal cavity.
In this area, the body absorbs the fluid. It does not go into the stomach.
Advantages of a VP Shunt

Advantages of Peritoneal Shunting.
1. If an infection develops, it is not as potentially
life threatening, as with shunts in the venous
system.
2. A large amount of tubing can be place intraperitoneal to minimize the need for elective
lengthening.
3. The overall ease in placing peritoneal shunts in a
relatively short operation.
Problems that may Arise with
VP Shunts

Risks that may Arise:
1.
2.
3.
4.
5.
6.
7.
Abdomen= Bowel twisting and excess fluid overload.
Blockage of the Shunt
Brain Injury= Clots, Loss of Sensation, Memory Loss, Paralysis,
Seizures, Speech Problems, Headaches caused by overdraining, and
Mechanical Failure
Bleeding, Problems with anesthesia
Body may react negative because of foreign material
Approximately 10% of shunts fail within 10 years of placement.
May require as many as 5 surgeries
How Shunts Work

Before shunt placement a CT image of the brain will show a build up of
CSF in the ventricles. Figure 1. Dark area in the middle is the build up of
CSF.
How Shunts Work


Shunt implantation  Goal is for the shunt system to mimic what would occur in
the body naturally. CSF will be chained by the shunt, and the flow will be
regulated so that a constant ICP is maintained.
After shunt placement Post-op CT scan image

Ventricles have been drained and have resumed normal size.
White spot in the
middle is the shunt.

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
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CSF enters the shunt system through small holes or slits
near the tip of the proximal catheter.
As CSF is produced by the choroid plexus, the shunt valve
will regulate the amount of ICP by draining fluid from the
ventricles.
From the proximal catheter CSF flows through the valve
system and into the distal catheter, drains the CSF into
another area where it is reabsorbed either directly or
indirectly by the bloodstream. Ex. Peritoneal cavity with
a VP shunt.
No harm because CSF is normal. Reabsorbed by the
superior sagittal sinus, a large venous structure that carries
the blood flow away from the brain.
VP Shunt Insertion
Ventricular Catheter
Reservoir
Valve
Ventriculoarterial
Shunt
Stastic Tubing
Ventriculoperitoneal
Shunt
Valve Pressure Ratings

Valve Pressure Settings:

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
Most shunt valves are known as differential pressure valves.
A valve is self-regulating . They are capable of gauging the amount of ICP
and can adjust to different pressures between the ventricles and the distal
cavity that the shunt drains into.
Most common pressure ratings for differential pressure valves are:
 Extra-low pressure: 0-10mmH2O
 Low 10-50mmH2O
 Medium 51-100mmH2O
 High 101-200mmH2O
 Amount of fluid that is allowed to flow through the shunt valve depends
on the specific design characteristics of the valve, as well as the level
rating by the manufacturer.
 Normal ICP range from 50mmH2O-200mmH2O.
 Infants normal ICP usually less than 60 and less than 40 for premature
infants.
VP Shunt Vs. VA Shunt
Ventriculo-Atrial Shunt (VA)

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Shunt tubing is passed from the valve to the neck where it is inserted into
a vein. It is then passed through the vein until the tip of the catheter
(shunt) is in the atrium (a chamber) of the heart.
In the heart, the CSF passes into the blood stream and is filtered along
with other body fluids.
Vascular shunts functioned very well, but they were prone to multiple
problems including early and late infection, as well as rare, potentially
fatal heart failure due to blockage of blood vessels within the lungs by
particles of blood clot flaking off the shunt's catheter tip.
The use of the heart has been largely abandoned as an initial choice
because of these problems, but it remains a viable second option when
infection or surgery has rendered the abdominal cavity unaccommodating
of the distal shunt catheter.
Ventriculopleural Shunt


The chest cavity is another cavity which can be used as a
backup to the abdominal cavity (ventriculopleural
shunt).
Occasionally, this cavity cannot resorb the CSF rapidly
and the lung becomes compressed by the excess CSF
resulting in difficulty in breathing. The catheter must be
moved to a different cavity is such cases.
Non-Surgical Treatments

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
Pharmacological  Acetazolamide (Diamox) and Furosemide (Lasix)
Diuretics. Given to control ICP and fluid retention. Temporary relief of
increased ICP, but are usually not helpful.
Used to decrease the production of CSF by the choroid plexus and serial
lumbar punctures of the spine to drain CSF.
Serial lumbar punctures are predominantly used on premature baby’s
who had an intraventricular hemorrhage.
Drain excess CSF within the ventricles of an intraventricular hemorrhage
will block CSF flow within the ventricles or in the basal cistein, causing
non-communicating hydrocephalus making serial lumbar puncture
ineffective.
Non-operational procedures provide moderate success until the client is
shunted.
Patient and Family Education

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Parents, older children, friends and roommates must be taught the signs and
symptoms of shunt failure.
Persistent headache, emesis, lethargy, change in the neurological exam,
visual changes such as diplopia or loss of conjugate gaze, or swelling or
redness along the shunt valve or tubing are signs that your child needs
medical attention.
Children are counseled to avoid contact sports that may cause injury to the
shunt valve or head trauma.
Discourage patients from wearing purses , shoulder bags, or backpacks on
the side where the shunt tubing passes down the neck. Continuous pressure
on the tubing can cause a break or kink in the tubing.
Constipation may be a factor in the development of a shunt malfunction due
to increased abdominal pressure, d/t decreased CSF drainage.
Medical Alert Bracelet.

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

Despite the many complications with
Susan, Jessica, and baby Isabelle, the
family does well
Isabelle continues to grow and learn
Jessica and Susan become even closer in
their marriage and say that Isabelle has
brought them so much joy and happiness
and she has taught them the importance of
life
Every day they feel blessed to have her in
their lives
Any Questions??
The End