CONGENITAL AND HEREDITARY DISEASES

Meningomyelocele (Spina Bifida)

-is a condition in which the bony neural arch that

encloses and protects the spinal cord is not completely
closed. It most commonly occurs in the lumbar region,
and the spinal cord and its meninges may or may not
herniate through the resultant opening.

Complications depend on the extent of protrusion and

range from treatable to life threatening. Any opening of
the sac to the exterior of the body risks meningeal
infection, so surgical closure is critical.
If only the meninges protrude, the condition is termed a
meningocele. A myelocele is a protrusion of the spinal cord,
minus its meningeal coverings, which may also be treatable
surgically. A meningomyelocele is the most common and
most serious of possible conditions, affecting approximately
one in every 800 infants and consisting of a protrusion of
both the meninges and the spinal cord into the skin of the
back.
Hydrocephalus

-refers to an excessive accumulation of CSF within the

ventricles and can be either congenital or acquired.

-This normal circulation may be interrupted by causes

such as an obstruction to flow (noncommunicating
hydrocephalus) and impaired absorption
(communicating hydrocephalus)
In noncommunicating hydrocephalus, an obstruction
may occur congenitally or result from tumor growth,
trauma (hemorrhage), or inflammation. It interferes
with or blocks normal CSF circulation from the ventricles
to the subarachnoid space.

In communicating hydrocephalus, Poor reabsorption of

CSF by arachnoid villi results. It
may arise from a number of factors, including increased
ICP caused by tumor compression, raised intrathoracic
pressure impairing venous drainage, inflammation from
meningitis, or subarachnoid hemorrhage.
INFLAMMATORY AND INFECTIOUS DISEASES

Meningitis

-An inflammation of the meningeal coverings of the

brain and spinal cord is termed meningitis.
-It may be caused by bacteria, viruses, or other
organisms that reach the meninges from elsewhere
in the body via blood or lymph or may occur as a
result of trauma and penetrating wounds or from
adjacent structures (e.g., the mastoids) that
become infected.
- Bacterial infection is the most common cause of
meningitis.
Encephalitis
-An infection of the brain tissue
is termed encephalitis. In
contrast to meningitis, which is
most frequently a bacterial
infection, encephalitis is usually
viral in nature and may also
occur subsequent to conditions
such as chickenpox, smallpox,
influenza, and measles.
-This condition is more serious
than meningitis because
individuals who acquire
encephalitis more frequently
develop permanent neurologic
Brain Abscess
-A brain abscess is an
encapsulated accumulation of pus
within the cranium resulting from
a cranial infection, a penetrating
head wound, or an infection
spread through the bloodstream.
-A brain abscess may also result
from the direct spread of
organisms associated with a
complicated case of sinusitis,
chronic otitis, or mastoiditis.
-Brain abscesses are fatal unless
they are treated with antibiotic
therapy.
DEGENERATIVE DISEASES
Degenerative Disk Disease and Herniated Nucleus
Pulposus
-A herniated nucleus pulposus, or herniated disk, may result
from either degenerative disease or trauma.
-A weakened or torn annulus fibrosus is subject to rupture,
which allows the nucleus pulposus to protrude and compress
spinal nerve roots.
Cervical Spondylosis Osteoarthritic

-conditions may also affect the vertebral column, leading

to nerve disorders caused by chronic nerve root
compression.
-These osteoarthritic changes of the neck are referred to
ascervical spondylosis and are well demonstrated
radiographically, most notably on an oblique projection
of the cervical spine.
-Osteophytes (bone spurs) form in the articular facets of
the cervical vertebrae and compress the nerves located
in the intervertebral foramina. They may also compress
the spinal cord.
Multiple Sclerosis
MS, a chronic, progressive disease
of the nervous system. The etiology
of this disease is unknown, but
research indicates that it may result
from a latent herpesvirus or
retrovirus infection.
-MS involves degeneration of the
myelin sheath covering the nervous
tissue of the spinal cord and the
white matter within the brain. This
demyelination impairs nerve
conduction, beginning with muscle
impairment and loss of balance and
coordination.
VASCULAR DISEASES
Cerebrovascular Accident
Atherosclerotic disease affecting the
blood supply to the brain may
eventually result in a cerebrovascular
accident (CVA), commonly referred to as
a stroke.
Strokes occur in essentially two ways,
and they are classified as ischemic
and hemorrhagic.
Ischemic strokes are caused when a
blood clot blocks a blood vessel in the
brain. In contrast, hemorrhagic
strokes, occur when a blood vessel in
the brain ruptures and bleeds into
the adjacent brain tissues and
Ischemic Strokes

In an ischemic stroke, however, blood clots are

dangerous because they may block blood flow and
cause vessel occlusion. An ischemic stroke may occur in
two ways:
(1) infarction caused by thrombosis of a cerebral artery
or
(2) embolism to the brain from a thrombus elsewhere in
the body. A thrombus is a blood clot that obstructs a
blood vessel, and an embolus is a mass of undissolved
matter (solid, liquid, or gas) present in a blood vessel
brought there by blood current.
Hemorrhagic Strokes

In a hemorrhagic stroke, brain hemorrhage results

from a weakening in the diseased vessel wall. Typically,
the ruptured vessel has been weakened by
arteriosclerosis from hypertension; however,
hemorrhage may also result from
congenital aneurysms or vascular anomalies.

The onset of this type of CVA is sudden and often

lethal because it expands rapidly. Brain hemorrhages
account for approximately 10% to 15% of all CVAs and
are of two types: (1) subarachnoid and (2)
intracerebral.
NEOPLASTIC DISEASES
In many cases, the location of the brain neoplasm is of equal
or greater importance than its malignancy or benignancy
because of the complications produced by mass effect.
Primary brain tumors may be classified according to the site
such as the specific lobe of the brain or according to
histologic composition. The two categories of brain tumors
based on histologic type are glial and nonglial neoplasms.
Glial tumors generate from the supporting tissues of the
brain and spinal cord. Gliomas account for about half of all
primary brain tumors. Their growth occurs through
infiltration, making them difficult to treat surgically through
resection. Nonglial tumors grow through expansion and are
more treatable surgically. Meningiomas are the most
frequently occurring nonglial tumors.
Gliomas

The most common type of primary brain tumor is

the glioma accounting for approximately 45% of all
intracranial tumors.
Gliomas commonly occur in the cerebral hemispheres
and the posterior fossa, with nearly half of all gliomas
classified as the malignant glioblastoma variety.
Other types of gliomas include benign astrocytomas,
oligodendrogliomas, and ependymomas. In terms of
MRI results, gliomas are evaluated on the basis of
associated edema, mass effect, and amount of contrast
enhancement.
Astrocytomas account for about a third of all gliomas and are
composed of astrocytes, which are star-shaped neuroglial
cells with many branching processes. Astrocytomas are white,
usually slow-growing, infiltrative tumors with a low grade of
malignancy.
A glioblastoma multiforme (an advanced astrocytoma) is
highly malignant. Early detection leads to a good prognosis.
Oligodendroglioma

-is a slow-growing astrocytic

tumor, and histologically, it is
often relatively benign. It
typically calcifies so that its
appearance in a punctate or
stippled pattern on a skull
radiograph is virtually
diagnostic.
Ependymoma
-is a firm, whitish tumor that arises from the ependyma,
the lining of the ventricles .Typically, it derives from the
roof of the fourth ventricle, but it may also appear from
the central canal of the spinal cord.
Medulloblastoma
-Like astrocytic tumors, medulloblastomas are soft,
infiltrating tumors of neuroepithelial tissue. These
rapidly growing tumors are highly malignant and most
often occur in the cerebellum of children and young
adults and usually extend from the roof of the fourth
ventricle.
-In addition, tumor dissemination throughout the
subarachnoid space often blocks the flow of CSF, causing
hydrocephalus.
-Surgical excision of the tumor as much as possible and
radiation to the entire CNS (brain and spinal cord) have
improved the 5-year survival rate to over 50% and the
10-year survival rate to about 40%.
Meningioma is a slow-growing, generally benign tumor
that originates in the arachnoid tissue. It is the most
common nonglial tumor, accounting for about 15% of all
intracranial tumors.
-CT studies of patients with a diagnosis of meningioma
demonstrate a well-defined mass of increased attenuation.
Pituitary Adenoma

A pituitary adenoma is usually a benign tumor of the

pituitary gland, and these tumors comprise about
15% of all intracranial tumors.

Hormones produced by the pituitary are affected,

with one type of adenoma of the anterior pituitary
resulting in gigantism if it develops before puberty
and acromegaly if it occurs in adults because of
excessive production of growth hormone (GH).
Craniopharyngioma- is a cystic, benign tumor growing
from remnants of the development of the pituitary gland. It
is thought to be developmental in origin and most
commonly manifests in childhood. Craniopharyngiomas
usually arise above the sella and extend upward into the
third ventricle. Occasionally, they are seen within the sella,
causing erosion of the sella turcica.