MODULE 35
NURSING CARE OF A FAMILY
WHEN A CHILD HAS A
NEUROLOGICAL ALTERATIONS
PART 2
NEUROCUTANEOUS SYNDROMES
Neurocutaneous syndromes are a group of disorders
present at birth. Caused by genetic changes (mutations),
these syndromes affect the nervous system, skin and other
organs. Neurocutaneous syndromes aren’t curable, but
healthcare providers can treat the symptoms they cause in
children and adults.
● Neurocutaneous syndromes are also known as
PHAKOMATOSES
The 3 most common types of neurocutaneous
syndromes are:
1. Tuberous sclerosis (TS)
1. Sturge-Weber Syndrome
3. Neurofibromatosis (NF), including NF1, NF2, and
schwannomatosis
1. TUBEROUS SCLEROSIS
● Tuberous sclerosis also called tuberous sclerosis complex
(TSC), is an uncommon genetic mutation of TSC1 or
TSC2 genes that causes tumors to develop in many parts of
the body. These tumors are not cancer. Noncancerous
tumors, also called benign tumors, are overgrowths of cells
and tissue that are not expected. Symptoms vary widely,
depending on where the growths develop and how big they
get.
ASSESSMENT
● Skin: White or ash-leaf-like patches of skin, red facial
angiofibromas, or raised orange-peel-textured skin
● Eyes: Growths on the retina or optic nerves that can cause
vision problems
● Kidneys: Growths or cysts that can disrupt kidney
function, leading to pain, blood in the urine, or kidney
stones
● Heart: Growths that are usually largest at birth and shrink
as a child gets older
● Lungs: Growths that can cause coughing or trouble
breathing, especially with physical activity
● Behavior: Hyperactivity, self-injury, aggression, or issues
with social and emotional adjustment
Diagnosis
TSC is usually diagnosed based on skin changes and other
symptoms. Doctors might order tests such as MRI scans,
CAT (CT) scans, ultrasounds, echocardiograms, and/or
EKG.
Treatment
There is no cure for TSC, but some symptoms can be
treated. With regular surveillance, the impacts of TSC can
be minimized.
2. STURGE-WEBER SYNDROME
- (ENCEPHALOFACIAL ANGIOMATOSIS)
● Sturge-Weber syndrome causes
abnormal blood vessel growth. As
a result, you’re born with a port
wine stain birthmark on your face
and growths called angiomas in
your brain. This condition may
cause seizures and muscle
weakness. Treatment options are
available to help you manage
symptoms. It doesn’t usually
affect your life expectancy.
● A genetic variant of the CNAQ gene causes SturgeWeber syndrome. This gene provides instructions to
regulate how blood vessels function and develop. When a
change affects this gene, it doesn’t get the instructions it
needs to do its job as expected, so blood vessels don’t
form properly before birth.
● Sturge-Weber syndrome isn’t inherited. It happens
randomly (sporadically). This means that anyone can be
born with the condition.
The three main features of Sturge-Weber syndrome include:
● Port wine stain birthmark: This is a collection of blood
vessels in your child’s skin. This patch of skin appears
pink to purple or darker than their natural skin tone. It
usually forms on your child’s forehead and eyelid. The
skin on the birthmark may thicken and darken over time.
● Glaucoma: This is increased pressure in your child’s eye
from fluid buildup. It can lead to vision loss.
● Leptomeningeal angiomas: These are abnormal blood
vessels that form in brain and spinal cord tissue. They
may affect blood flow to parts of your child’s brain. The
areas of the brain affected by angiomas can cause seizures
and one-sided muscle weakness (hemiparesis).
● Leptomeningeal angiomas: These are abnormal blood
vessels that form in brain and spinal cord tissue. They
may affect blood flow to parts of your child’s brain. The
areas of the brain affected by angiomas can cause seizures
and one-sided muscle weakness (hemiparesis).
ASSESSMENT
● involvement of the meningeal blood vessels, blood flow
can be sluggish, and anoxia may develop in some portions
of the cerebral cortex.
● The child will develop symptoms of hemiparesis
(numbness) on the side opposite the lesion from
destruction of motor neurons..
● Intractable seizures, a cognitive challenge, or blindness
caused by glaucoma may also be present.
● A CT scan 'or an MRI of the skull usually demonstrates
calcification of the involved cerebral cortex, which appears
as a "railroad track" or double-groove pattern on the CT or
MRI screen.
● An EEG usually shows decreased voltage in the affected
areas.
Therapeutic Management
● this syndrome is first diagnosed, parents may ask to have
the skin lesion surgically removed in the belief that this
will correct their child's condition.
● Unfortunately, because the lesion is not just a surface
phenomenon, it's important that parents understand the
need for long-term follow-up, particularly if the child has
accompanying seizures that require long-term antiseizure
therapy
3. NEUROFIBROMATOSIS
- (VON RECKLINGHAUSEN DISEASE)
● Neurofibromatosis is a genetic condition that affects your
nervous system (brain, spinal cord and nerves) and skin. A
healthcare provider may suspect this condition if you have
more than six café au lait birthmarks on your skin. A
genetic change causes this condition, which leads to
unregulated tumor growth in your body. Treatment is
available.
ASSESSMENT
● multiple soft cutaneous tumors begin to form in the child's
skin along nerve pathways, and the child may develop
seizures.
● Subcutaneous tumors develop by young adulthood.
● The acoustic nerve (cranial nerve VIII) is frequently
involved, leading to hearing impairment.
● Involvement of the optic nerve can lead to vision loss.
There are three types of
neurofibromatosis:
1. Neurofibromatosis type 1 (NF1):
NF1 is the most common type. It
causes café au lait spots, nerve
tumors (neurofibromas), armpit and
groin freckles, eye nerve tumors and
bone deformities (scoliosis).
● The NF1 gene prevents cells
from growing too quickly, which
causes melanocytes to produce
too much melanin in your skin.
2. NF2-related schwannomatosis, formerly known as
neurofibromatosis
type
2
(NF2):
NF2-related
schwannomatosis causes slow-growing nerve tumors, hearing
changes, vision changes (cataracts) and numbness or weakness
(peripheral neuropathy).
● A genetic change of the neurofibromin 2 (NF 2) gene
causes NF2. This is why the condition is known as NF2related schwannomatosis. This gene helps in the
production of merlin. It’s a protein that stops tumors from
forming (tumor-suppressor).
Bilateral vestibular schwannomas are the hallmark
3. Schwannomatosis (SWN): SWN is the least common type
and it includes several subtypes depending on the specific
genetic mutation that causes them. Some cases don’t cause
symptoms. In others, it causes slow-growing nerve tumors
(schwannomas) sometimes located only on one part of your
body, chronic pain, numbness and tingling in your fingers and
toes.
● The most common symptom of schwannomatosis is pain.
This happens when schwannoma tumors press on your
nerves and surrounding tissue.
Therapeutic Management
● Girls especially need to be aware of the disorder not only
because of its inheritance pattern but also because tumor
formation can increase with pregnancy.
● Little therapy is available to halt the tumor growth.
● If lesions are causing acoustic or optic degeneration,
surgical removal of the tumors may be attempted to
preserve hearing or sight.
● Be certain that both the parents and child have a source of
emotional support through the disease's slow but invariably
fatal course.
CELEBRAL PALSY
● is a group of non progressive
disorders of upper motor neuron
impairment that result in motor
dysfunction. Affected children also
may have speech or ocular
difficulties,
seizures,
cognitive
challenges, or hyperactivity. Muscle
spasticity can lead to orthopedic or
gait difficulties
TYPES
1. SPASTIC TYPE
2. ATAXIC TYPE
3. DYSKINETIC OR ATHETOID TYPE
4. MIXED TYPE
1. SPASTIC TYPE
● is excessive tone in the voluntary muscles that results from
loss of upper motor neurons
● has hypertonic muscles, abnormal clonus, exaggeration of
deep tendon reflexes, abnormal reflexes such as a positive
Babinski reflex, and continuation of neonatal reflexes, such
as the tonic neck reflex, well past the age at which these
usually disappear.
● They fail to demonstrate a parachute reflex if lowered
suddenly and tend to assume a "scissors gait because tight
adductor thigh muscles cause their legs to cross when held
upright.
● This involvement may be so severe that it leads to a
subluxated hip.
● By school age, tightening of the heel cord can become so
severe that children walk on their toes, unable to stretch
their heel to touch the ground.
● involvement may affect both extremities on one side
(hemiplegia), all four extremities (quadriplegia), or
primarily the lower extremities (diplegia or paraplegia).
2. ATAXIC TYPE
● Ataxic cerebral palsy is caused by damage to the brain’s
balance center, the cerebellum. The cerebellum is
responsible for fine-tuning movement commands for the
body, and damage to this area results in poor coordination
and lack of balance.
● Children with ataxic cerebral palsy have a hard time
controlling their movements. They are shaky and struggle
with precise movements, such as writing and grasping
small objects. Ataxic CP can affect the hands, arms, legs,
feet, eyes and even speech.
3. DYSKINETIC OR ATHETOID TYPE
● abnormal involuntary movement (athetoid means
"wormlike")
● appears limp and flaccid
● in place of voluntary movement, children make slow,
writhing motions
● This can involve all four extremities plus the face, neck,
and tongue.
Dyskinetic cerebral palsy can involve three different types of
involuntary movement:
● Dystonia — which involves a lot of twisting and repetitive
movements
● Athetosis — which is characterized by slow, continuous
movements that persist even when you’re at rest
● Chorea — derived from the Greek word for dance, the
resulting movements are brief, abrupt, and unpredictable
You may have just one of these movement types as your most
pronounced symptom, but athetosis and chorea often co-occur
— a condition referred to as choreoathetosis.
ASSESSMENT
● Because of the poor tongue and swallowing movements,
the child drools and speech is difficult to understand.
● Under emotional stress, the involuntary movements may
become irregular and jerking (choreoid) with disordered
muscle tone (dyskinetic).
3. MIXED TYPE
● Some children show symptoms of both spasticity and
athetoid or ataxic and athetoid movements.
● This combination obviously results in a severe degree of
physical impairment.
ASSESSMENT
● The diagnosis of CP is based on history and physical
assessment.
● Any episode of possible anoxia during prenatal life or at
birth should be documented.
● Determining the extent of involvement in an infant is
difficult, so the full extent of the disorder may not be
recognized until the child attempts complex motor skills,
such as walking or coloring.
● Children with all forms of CP may have sensory alterations
such as strabismus, refractive disorders, visual perception
problems, visual field defects, and speech disorders such as
abnormal rhythm or articulation.
● They may show an attention deficit disorder or autism
spectrum syndrome.
● Cognitive challenge and recurrent seizures also frequently
accompany all types of the disorder.
● A skull X-ray or ultrasound may show cerebral asymmetry.
● An EEG may be abnormal, although the pattern is highly
variable.
THERAPEUTIC MANAGEMENT
● Because CP is not always diagnosed early in infancy,
parents may not learn their child has a chronic disorder
until 2 to 4 years later.
● Listen to parents during healthcare visits and encourage
them to discuss the difficulties of daily living, such as
feeding problems.
● Offer them support as needed if they grieve because their
child is not able to accomplish all of the major things they
had wished for during pregnancy or feel defeated by the
day-to-day strain of caring for their child's multiple special
needs.
ENCEPHALITIS
● Encephalitis is inflammation of the brain. It can be caused
by viral or bacterial infections, or by immune cells
mistakenly attacking the brain. Viruses that can lead to
encephalitis can be spread by insects such as mosquitos
and ticks.
● When inflammation is caused by an infection in the brain,
it's known as infectious encephalitis. And when it's caused
by the immune system attacking the brain, it's known as
autoimmune encephalitis. Sometimes there is no known
cause.
Symptoms
Most people with infectious encephalitis have flu-like
symptoms, such as:
● Headache.
● Fever.
● Aches in muscles or joints.
● Fatigue or weakness.
In infants and young children, symptoms also might include:
● Bulging of the soft spots of an infant's skull.
● Nausea and vomiting.
● Stiffness affecting the whole body.
● Poor feeding or not waking for a feeding.
● Irritability.
In autoimmune encephalitis, symptoms may develop more slowly over
several weeks. Flu-like symptoms are less common but can sometimes
happen weeks before more-serious symptoms start. Symptoms are different
for everyone, but it's common for people to have a combination of symptoms,
including:
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Changes in personality.
Memory loss.
Trouble understanding what is real and what is not, known as psychosis.
Seeing or hearing things that aren't there, known as hallucinations.
Seizures.
Changes in vision.
Sleep problems.
Muscle weakness.
Loss of sensation.
Trouble walking.
Irregular movements.
Bladder and bowel symptoms
● The diagnosis is made by the history and physical
assessment.
● C S evaluation will reveal an elevated leukocyte count
and an elevated protein level.
● An EEG will demonstrate widespread cerebral
involvement.
● A Brain biopsy, usually taken from the temporal lobe or
infected C S , identifies the virus.
Therapeutic Management
● An antipyretic is prescribed to control fever.
● Mechanical ventilation may be required to maintain the
child's respirations during the acute phase.
● A variety of medications, such as acyclovir (Zovirax),
an antiviral agent, and carbamazepine (Tegretol), an
anticonvulsant, may be prescribed.
● A steroid such as dexamethasone or an osmotic diuretic
such as mannitol may be needed to decrease brain
edema and ICP.
REYE SYNDROME
Reye's syndrome is a serious condition that causes swelling in
the liver and brain. It can occur at any age but usually affects
children and teenagers after a viral infection, most commonly
the flu or chickenpox. Reye's syndrome is rare. The condition
also is known as Reye syndrome.
ASSESSMENT
● The cause is unknown, but symptoms such as lethargy,
vomiting, confusion, and combativeness usually occur after
a viral infection such as varicella (chickenpox) or influenza
that was treated with acetylsalicylic acid (aspirin).
THERAPEUTIC MANAGEMENT
● Treatment is supportive. Untreated, the condition leads to
coma and death.
● Anticipatory guidance to parents and children about
avoiding the use of aspirin during viral infections has
almost prevented the syndrome
THANK YOU!