Abnormalities CNS

ARIN SUPRIYADI
• Hydrocephalus
• Microcephalus
• Spina bifida
• Central nervous system cyst
• Syringomyelia
 Hydrocephalus
• Hydrocephalus is a condition in which an
accumulation of cerebrospinal fluid (CSF) occurs
within the brain. This typically causes increased
pressure inside the skull.
• Hydrocephalus can occur due to birth defects or
be acquired later in life. Associated birth defects
include neural tube defects and those that result in
aqueductal stenosis
• Other causes include meningitis, brain tumors,
traumatic brain injury, intraventricular
hemorrhage, and subarachnoid hemorrhage.
 Type
• The cause of hydrocephalus is not known with
certainty and is probably multifactorial. It may be
caused by impaired CSF flow, reabsorption, or
excessive CSF production.
• Based on its underlying mechanisms,
hydrocephalus can be classified into :
– communicating and noncommunicating (obstructive).
• Both forms can be either congenital or acquired.
 Type
• Communicating
• Communicating hydrocephalus, also known as
nonobstructive hydrocephalus, is caused by
impaired CSF reabsorption in the absence of any
obstruction of CSF flow between the ventricles
and subarachnoid space. This may be due to
functional impairment of the arachnoidal
granulations (also called arachnoid granulations
or Pacchioni's granulations), which are located
along the superior sagittal sinus, and is the site of
CSF reabsorption back into the venous system
 Type
• Noncommunicating
• Noncommunicating hydrocephalus, or
obstructive hydrocephalus, is caused by a
CSF-flow obstruction.
 Symptom
• In babies, it may be seen as a rapid increase in
head size. Other symptoms may include
vomiting, sleepiness, seizures, and downward
pointing of the eyes.
• Older people may have headaches, double
vision, poor balance, urinary incontinence,
personality changes, or mental impairment
 Impairment
• Loss of bladder control (urinary incontinence)
• Loss of coordination and trouble walking
• Muscle spasticity (spasm)
• Slow growth (child 0–5 years)
• Delayed milestones
• Failure-to-thrive
• Slow or restricted movement
 Microcephaly
• Microcephaly is a medical condition in which
the brain does not develop properly resulting
in a smaller than normal head.
• Microcephaly may be present at birth or it may
develop in the first few years of life.
 Pathophysiology
• Microcephaly generally is due to the
diminished size of the largest part of the
human brain, the cerebral cortex, and the
condition can arise during embryonic and fetal
development due to insufficient neural stem
cell proliferation, impaired or premature
neurogenesis, the death of neural stem cells or
neurons, or a combination of these factors.
 Type
• Microcephaly is a type of cephalic disorder. It
has been classified in two types based on the
onset
• Congenital
• Postnatal onset
 Signs and symptoms
• There are a variety of symptoms that can occur in
children. Infants with microcephaly are born with
either a normal or reduced head size.
• Subsequently, the head fails to grow, while the
face continues to develop at a normal rate,
producing a child with a small head and a
receding forehead, and a loose, often wrinkled
scalp.
• As the child grows older, the smallness of the
skull becomes more obvious, although the entire
body also is often underweight and dwarfed
 Impairment
• Severely impaired intellectual development
• disturbances in motor functions may not
appear until later in life
• Development of motor functions and speech
may be delayed
• Motor ability varies, ranging from clumsiness
in some to spastic quadriplegia in others
 Spina bifida
• Spina bifida is a birth defect in which there is
incomplete closing of the spine and membranes
around the spinal cord during early development
in pregnancy
• The most common location is the lower back, but
in rare cases it may be the middle back or neck
• Spina bifida is believed to be due to a
combination of genetic and environmental factors
 Type
• There are three main types Spina bifida :

• Occulta
• Meningocele
• Myelomeningocele
 Type Occulta
• This is the mildest form of spina bifida. In
occulta, the outer part of some of the vertebrae is
not completely closed. The splits in the vertebrae
are so small that the spinal cord does not protrude.
• The skin at the site of the lesion may be normal,
or it may have some hair growing from it; there
may be a dimple in the skin, or a birthmark
• Occulta has no or only mild signs. Signs of
occulta may include a hairy patch, dimple, dark
spot or swelling on the back at the site of the gap
in the spine
 Type Meningocele
• Meningocele typically causes mild problems with a sac
of fluid present at the gap in the spine
• A posterior meningocele or meningeal cyst is the least
common form of spina bifida.
• In this form, a single developmental defect allows the
meninges to herniate between the vertebrae. As the
nervous system remains undamaged, individuals with
meningocele are unlikely to suffer long-term health
problems, although cases of tethered cord have been
reported. Causes of meningocele include teratoma and
other tumors of the sacrococcyx and of the presacral
space, and Currarino syndrome.
 Type Myelomeningocele
• Myelomeningocele, also known as open spina bifida, is
the most severe form
• Myelomeningocele (MMC), also known as
meningomyelocele, is the type of spina bifida that often
results in the most severe complications and affects the
meninges and nerves. In individuals with
myelomeningocele, the unfused portion of the
• spinal column allows the spinal cord to protrude
through an
• opening. Myelomeningocele occurs in the third week of
• embryonic development, during neural tube pore
closure.
 Impairment
Physical signs of spina bifida may include:
• Leg weakness and paralysis
• Orthopedic abnormalities (i.e., club foot, hip
dislocation, scoliosis)
• Bladder and bowel control problems, including
incontinence, urinary tract infections, and poor
kidney function
• Pressure sores and skin irritations
• Abnormal eye movement
 Central nervous system cyst
• A central nervous system cyst is a type of cyst
that presents and affects part of the central
nervous system (CNS).
• They are usually benign and filled with either
cerebrospinal fluid, blood, or tumor cells.
• CNS cysts are classified into two categories:
– cysts that originate from non-central nervous
system tissue, migrate to, and form on a portion of
the CNS
– cysts that originate within central nervous system
tissue itself.
 Causes
• Many CNS cysts form in the womb during the
first few weeks of development as a result of
congenital defects.
• In adults cysts may also form due to a head
injury or trauma, resulting in necrotic tissues
(dead tissue), and can sometimes be associated
with cancerous tumors or infection in the
brain. However, the underlying reasons for
cyst formation are still unknown
 Diagnosis
• The diagnostic process typically begins with a
medical history workup followed by a medical
examination by a physician.
• Imaging tests, such as CT scans and MRIs,
help provide a clearer picture.
• The physician typically looks for fluid (or
other bodily substance) filled sacs to appear in
the scans, as is shown in the CT scan of a
colloid cyst
 Impairment
• Some cysts in the CNS can be asymptomatic (producing or
showing no symptoms), depending on their location in the
brain or spinal cord.
• Pressure in the spinal cord or brain
• Rupture of nerves around the cyst
• Weakness in specific parts of the body controlled by the
cyst-infected brain region
• Inflammation
• Hydrocephalus
• Brainstem hemorrhage
• Seizures
• Visual disturbances and hearing Loss
• Headache
• Difficulty with balance or walking
 Syringomyelia
• Syringomyelia is a generic term referring to a
disorder in which a cyst or cavity forms within
the spinal cord.
• This cyst, called a syrinx, can expand and
elongate over time, destroying the spinal cord.
 Cause
• Generally, there are two forms of
syringomyelia :
• Congenital
• Acquired
 Congenital
• The first major form relates to an abnormality
of the brain called an Arnold–Chiari
malformation or Chiari Malformation. This is
the most common cause of syringomyelia,
where the anatomic abnormality, which may
be due to a small posterior fossa, causes the
lower part of the cerebellum to protrude from
its normal location in the back of the head into
the cervical or neck portion of the spinal canal.
 Acquired
• The second major form of syringomyelia
occurs as a complication of trauma, meningitis,
hemorrhage, a tumor, or arachnoiditis. Here,
the syrinx or cyst develops in a segment of the
spinal cord damaged by one of these
conditions. The syrinx then starts to expand.
This is sometimes referred to as
noncommunicating syringomyelia
 Diagnosis
• Physicians now use magnetic resonance imaging
(MRI) to diagnose syringomyelia.
• The MRI radiographer takes images of body
anatomy, such as the brain and spinal cord, in
vivid detail. This test will show the syrinx in the
spine or any other conditions, such as the
presence of a tumor.
• MRI is safe, painless, and informative and has
greatly improved the diagnosis of syringomyelia.
 Impairment
• loss of feeling
• Paralysis
• weakness
• stiffness in the back, shoulders, and extremities
• loss of the ability to feel extremes of hot or cold,
especially in the hands
• paralysis or paresis, temporarily or permanently
• disruptions in the parasympathetic and
sympathetic nervous systems, leading to abnormal
body temperature or sweating, bowel control
issues