Encephaloceles (form and relative of Spinal Bifida) Rainy was born with encephalocele, and because of this we were able to find the arachnoid cyst. Rainy had her first brain operation when she was only 3 months old. The doctor removed the enephaloceles but left a nickle size hole in her cranium which will effect Rainy.
What are Encephaloceles?
Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in family members.
Arachnoid Cyst- Rainy has an arachnoid cyst that sits behind her brainstem and acrossed her cerebellum. This is the part of the diease that causes the diease to be life-threatening. We had Rainy's first shunt put in at 6 months of age, since then she has had 16 brain operations to fix the shunt and to put in a VNS, also an emeregency tube was put in another location of her brain when she slipped into a coma on April 15th 2007.
Arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Primary arachnoid cysts are present at birth and are the result of developmental abnormalities in the brain and spinal cord that arise during the early weeks of gestation. Secondary arachnoid cysts are not as common as primary cysts and develop as a result of head injury, meningitis, or tumors, or as a complication of brain surgery. The majority of arachnoid cysts form outside the temporal lobe of the brain in an area of the skull known as the middle crania fossa. Arachnoid cysts involving the spinal cord are rarer. The location and size of the cyst determine the symptoms and when those symptoms begin. Most individuals with arachnoid cysts develop symptoms before the age of 20, and especially during the first year of life, but some people with arachnoid cysts never have symptoms. Males are four times more likely to have arachnoid cysts than females.
Typical
symptoms of an arachnoid cyst around the brain include headache, nausea
and vomiting, seizures, hearing and visual disturbances, vertigo, and
difficulties with balance and walking. Arachnoid cysts around the
spinal cord compress the spinal cord or nerve roots and cause symptoms
such as progressive back and leg pain and tingling or numbness in the
legs or arms. Diagnosis usually involves a brain scan using
diffusion-weighted MRI (magnetic resonance imaging) which helps
distinguish fluid-filled arachnoid cysts from other types of cysts.
Hydrocephalus- Rainy
has had hydrocephalus since birth. It wasn't first a problem or
treated until 6 months of age. The hydrocephalus is located in
the cyst.
The term hydrocephalus is derived from the Greek words "hydro" meaning water and "cephalus" meaning head. As its name implies, it is a condition in which the primary characteristic is excessive accumulation of fluid in the brain. Although hydrocephalus was once known as "water on the brain," the "water" is actually cerebrospinal fluid (CSF) — a clear fluid surrounding the brain and spinal cord. The excessive accumulation of CSF results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain.
The ventricular system is made up of four ventricles connected by narrow pathways. Normally, CSF flows through the ventricles, exits into cisterns (closed spaces that serve as reservoirs) at the base of the brain, bathes the surfaces of the brain and spinal cord, and then is absorbed into the bloodstream.
CSF has three important life-sustaining functions: 1) to keep the brain tissue buoyant, acting as a cushion or "shock absorber"; 2) to act as the vehicle for delivering nutrients to the brain and removing waste; and 3) to flow between the cranium and spine to compensate for changes in intracranial blood volume (the amount of blood within the brain).
The
balance between production and absorption of CSF is critically
important. Ideally, the fluid is almost completely absorbed into the
bloodstream as it circulates; however, there are circumstances which,
when present, will prevent or disturb the production or absorption of
CSF, or which will inhibit its normal flow. When this balance is
disturbed, hydrocephalus is the result.
Shunts- Rainy
has had a shunt since 2002. She has had 13 replacements for the
shunt. In 2007 she had an extra shunt put in the front of her
brain for a temporary fix to her slipping into the coma. It is
still unknown what caused her 12 coma.
A shunt is a
flexible tube placed into the ventricular system that diverts the flow
of CSF into another region of the body where it can be absorbed, such
as the peritoneal (abdominal) cavity or the right atrium of the heart.
The shunt tube is about 1/8 inch in diameter and is made of a soft and
pliable plastic that is well tolerated by our body tissues. Shunt
systems come in a variety of models but have similar functional
components. Catheters (tubing) and a flow-control mechanism (one-way
valve) are components common to all shunts. The valve in the shunt
maintains the CSF at normal pressure within the ventricles.
The
surgical placement of a shunt, which is performed by a neurosurgeon, is
a relatively short and uncomplicated procedure. The patient is brought
to the operating room and is placed under general anesthesia. To insure
cleanliness, a small region of the scalp may be clipped or shaved, and,
for a ventriculoperitoneal shunt, the entire area from the scalp to the
abdomen is scrubbed with an antiseptic solution. Sterile drapes are
placed over the patient. Incisions are made in the head and abdominal
areas. The shunt tube is passed beneath the skin, in the fatty tissue
that lies just below the skin. A small hole is made in the skull, and
the membranes between the skull and brain are opened. The ventricular
end of the shunt is gently passed through the brain into the lateral
ventricle. The abdominal (peritoneal) end is passed into the abdominal
cavity through a small opening in the lining (peritoneum) of the
abdomen. This is where the CSF will ultimately be absorbed. The
incisions are then closed. When the procedure is completed, sterile
bandages may be applied to the incisions and the patient is taken to
the recovery room where the anesthesia is allowed to wear off.
Seizures- Because of all these complications Rainy has she has developed seizures. Her first seizure was in 2004 when she was unresponsive and we eneded up calling 911. Since then she has been treated for seizures by medication. Her seizures occur in her cerebellum, so we opted for another solution with the medication. To have a VNS installed.
Seizures are caused by abnormal electrical discharges in the brain. Symptoms may vary depending on the part of the brain that is involved, but seizures often cause unusual sensations, uncontrollable muscle spasms, and loss of consciousness.
Some seizures may be the result of a medical problem. Low blood sugar, infection, a head injury, accidental poisoning, or drug overdose can cause a seizure. A seizure may also be due to a brain tumor or other health problem affecting the brain. In addition, anything that results in a sudden lack of oxygen to the brain can cause a seizure. In some cases, the cause of the seizure is never discovered.
When seizures recur, it may indicate the chronic condition known as epilepsy.
Febrile seizures, relatively common in kids younger than 5 years old, can occur when a child develops a high fever,
usually with the temperature rising rapidly to 102° Fahrenheit (38.9°
Celsius) or more. While terrifying to parents, these seizures are
usually brief and rarely cause any problems, unless the fever is
associated with a serious infection, such as meningitis. A child who has a febrile seizure is not more likely to develop epilepsy.
VNS- In
2006 Rainy had a VNS installed in her. For children under 12 this
is something that is not FDA approved. We had to get 3 doctors
and one government rep to sign off on her having a VNS. Because
of the VNS Rainy cannot be around anytype of Magnets.
Vagus nerve stimulation (VNS) is an adjunctive treatment for certain types of intractable epilepsy and clinical depression. VNS uses a stimulator that sends electric impulses to the left vagus nerve in the neck via a lead implanted under the skin.
Cerebellum Disorder- Rainy
was diagnoised with cerebellum disorder in 2005. Rainy's overall
body works well. But because of her lack of cerebellum and that
her vermis is smaller then it should be, this causes Rainy to lose
control of her body at times needing assitance in a wheelchair or a
walker.
Cerebellar disorders have numerous causes, including congenital malformations, hereditary ataxias, and acquired disorders. Symptoms vary with cause but typically involve ataxia (an abnormal, wide-based gait due to impaired muscle coordination). Diagnosis is clinical and also often by imaging and sometimes genetic testing. Treatment is usually only supportive unless the cause is acquired and reversible.
The cerebellum has 3 parts. The archicerebellum (vestibulocerebellum) includes the flocculonodular lobe, which is located in the medial zone. It helps maintain equilibrium and coordinate eye, head, and neck movements; it is closely interconnected with the vestibular nuclei. The midline vermis (paleocerebellum) helps coordinate trunk and leg movements. Vermis lesions result in abnormalities of stance and gait. The lateral hemispheres (neocerebellum) control quick and finely coordinated limb movements, predominantly of the arms.
Ataxia is the archetypal sign of cerebellar dysfunction, but many other motor abnormalities may occur (see Table 1: Movement and Cerebellar Disorders: Signs of Cerebellar Disorders
Dandy walker syndrome- When you put everything together the Dandy walker syndrome is a beauitful summary of the problems Rainy suffers from.
Dandy-Walker syndrome is a congenital brain malformation involving the fourth ventricle and cerebellum.
It is defined as an enlargement of the fourth ventricle, an absence (partial or complete) of the cerebellar vermis (the narrow middle area between the two cerebral hemispheres), and cyst formation in the posterior fossa (the internal base of the skull). Hydrocephalus (increased intracranial pressure) may also be present.
Symptoms which often occur in early infancy include slow motor development and progressive macrocrania (an abnormally enlarged skull). In older children symptoms of increased intracranial pressure such as irritability, vomiting and convulsions, and/or signs of cerebellar dysfunction such as ataxia and nystagmus (jerky eyes) may occur.
The syndrome can appear dramatically or be totally asymptomatic. Other symptoms include increased head circumference, bulging occiput (the back of the head), cranial nerve dysfunction, and abnormal breathing patterns.
Of importance is the high association of Dandy-Walker syndrome with other central nervous system structural anomalies including agenesis of the corpus callosum and mal-formations of the face, limbs, digits and heart.
Treatment for individuals with Dandy-Walker syndrome generally consists of treating the associated anomalies, if needed. Also, a ventriculoperitoneal shunt may be inserted to control the hydrocephalus. Genetic counselling may also be needed.
The prognosis for patients with Dandy-Walker syndrome is only
moderately favorable, even when the hydrocephalus is treated early and
correctly. The presence of multiple congenital defects may adversely
affect survival. Prognosis for normal intellectual development is
variable depending on the severity of the syndrome and associated
malformations.
Needless to say Rainy has
a long road ahead of her. With 16 brain operations, a whole lot
of seizures, ongoing hospital stays, shunt taps and other painful
treatments Rainy is still holding her own. The doctors have told
us they do not know what Rainy's outcome will be but to enjoy her for
the time we have her. They have also become really frustrated
because this child should not be here and if so she should be a
vegatable. It is clear to us that the Lord has a plan for Rainy,
but not clear of how much time we have left to enjoy her.
Everyday is a different day for Rainy, somedays she seems normal and
other days she is using her wheelchair......BUT she never stops smiling.
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