KELAINAN KONGENITAL
BEDAH SARAF
• EMBRIOLOGI HINGGA 3 LAPISAN
• ORGANOGENESIS
• CONTOH2 KELAINAN HINGGA KELAINAN
GENETIK
• SPINA BIFIDA HINGGA PEMBENTUKAN
TULANG BELAKAN
• EPILEPSI KONGENITAL
• HEMANGIOMA CEREBELUM
Hydrocephalus
• From Greek hydrokephalos, from
hydr- + kephalE head
• Definition: An abnormal increase
in the amount of cerebrospinal
fluid within the cranial cavity that
is accompanied by expansion of the
cerebral ventricles, enlargement of
the skull and especially the
forehead, and atrophy of the brain
Overview of CSF production
• The CSF volume of an
average adult ranges from
80 to 160 ml
• The ventricular system
holds approximately 20 to
50 ml of CSF
• CSF is produced in the
choroid plexuses at a daily
rate of 14-36 ml/hr
Overview of CSF production
• The choroid plexuses are
the source of
approximately 80% of the
CSF
• The blood vessels in the
subependymal regions,
and pia also contribute to
the formation of CSF
Overview of CSF circulation
• The CSF flows from the
lateral ventricles
downward to the foramina
of Magendie and Luschka,
to the perimedullary and
perispinal subarachnoid
spaces, and then upward to
the basal cistern and
finally to the superior and
lateral surfaces of the
cerebral hemispheres
CSF circulation
• The pressure gradient is
highest in the lateral ventricles
and diminishes successively +
along the subarachnoid space
• Arterial pulsations in the
choroid plexuses help drive
the fluid from the ventricular
system
• Normally, the periventricular
tissues offer little resistance to
the flow of CSF
-
CSF pressure
• The CSF volume and • An increase in blood
pressure are maintained PCO2 (hypoventilation)
on a minute to minute decreases pH and
basis by the systemic arteriolar resistance, this
circulation in turn gives rise to
• CSF pressure is in increased CSF pressure
equilibrium with by increasing cerebral
capillary pressure blood flow
(determined by the • Hyperventilation has the
arteriolar tone) opposite effect
CSF pressure
• Normal intracranial
pressure (ICP) in an adult
is between 2-8 mmHg.
• Levels up to 16 mmHg are
considered normal
• ICP higher than 40 mmHg
or lower BP may combine
to cause ischemic damage
CSF pressure
• Increased venous
pressure has a direct
effect on CSF pressure
• Downstream block of
venous flow increases
the volume of cerebral
veins, dural sinuses,
and the subarachnoid
space
The function of the CSF
• The CSF acts as a
“water jacket” for the
brain and spinal cord
• The 1300 g adult brain
weighs approximately
45 g when suspended
in CSF
The function of the CSF
• The CSF acts like a
“sink”, effectively
flushing waste products
as new fluid is secreted
reabsorbed
• A constant CSF
electrolyte composition
helps maintain a stable
medium for excitable
cells (neurons)
Mechanisms of increase
intracranial pressure
• Brain, Blood and CSF
are held in an inelastic
container (cranium,
vertebral canal and dura)
• Changes in volume of
either element
(Brain,CSF, Blood) is at
the expense of the other
two
Hydrocephalus
Communicating vs. Non-communicating
(Dandy)
• This is an old
classification of
hydrocephalus
• The terms refer to the
presence or absence of
a communication of
the lateral ventricles
with the spinal
subarachnoid space
Communicating vs. Non-
communicating
• This classification was based on the imaging
findings after injection of dye into the
ventricular system and simultaneous
injection of air into the subarachnoid space
• Diffusion of dye into the subarachnoid
space and passage of air into the ventricular
space were the criteria for communicating
hydrocephalus
Non-communicating
hydrocephalus
• There is no communication between
the ventricular system and the
subarachnoid space. The commonest
cause of this category is aqueduct
blockage or stenosis.
Aqueductal stenosis
• The normal aqueduct
measures about 1 mm
in diameter, and is
about 11 mm in
length.
Aqueductal stenosis
• Is the most common cause of congenital
hydrocephalus(43%)
– Aqueduct develops about the 6th week of gestation
– M:F = 2:1
– Other congenital anomalies (16%): thumb deformities
– Prognosis: 11-30% mortality
Etiology of aqueductal stenosis
• Intrinsic Pathology of the Aqueduct
• Septum or Membrane Formation: A thin membrane of neuroglia may
occlude the aqueduct. It commonly occurs caudally. There may be a primary
developmental defect or it may follow granular ependymitis from intrauterine
infections. This is the rarest of the types of narrowing.
• Forking of the Aqueduct:Typically, there are two channels seen in
midsagittal plane unable to handle CSF volume. Most often seen with spina
bifida.
• Gliosis of the Aqueduct: Usually of infectious origin showing a marked
gliofibrillary response. The lumen is devoid of ependyma.
• Stenosis of the Aqueduct: Narrowed aqueduct without evidence of gliosis.
This may have hereditary basis.
Etiology of aqueductal stenosis
• Extrinsic Pathology of the Aqueduct:
• Infectious. Abscesses.
• Neoplastic. Pineal tumors, brainstem gliomas, medulloblastoma,
ependymoma.
• Vascular. AVM, aneurysm, Galen aneurysm.
• Developmental. Arachnoid cysts.
Clinical features of aqueductal
stenosis
• Obstructive
hydrocephalus: presents
with macrocephaly and/or
intracranial hypertension.
• Parinaud's syndrome.
Inability to elevate eyes
• Collier's sign. Retraction
of the eyelids
Imaging of aqueductal stenosis
• Ultrasonography can
detect aqueductal
stenosis in utero.
Sonogram
Imaging of aqueductal stenosis
• CT and MRI. MRI is
essential if third
ventriculostomy is to
be considered.
Aqueduct
Treatment of aqueductal stenosis
• Treatment and Results
• Remove underlying cause of
obstruction if possible.
• Third ventriculostomy as initial
treatment of choice.
• VP shunt if technical reasons do not
allow third ventriculostomy or if
the child fails after ventriculostomy.
• Aqueductal stent can be placed if
technically feasible. Usually rarely
done due to risk of upper brain
stem injury.
Communicating hydrocephalus
• In communicating or non-obstructive
hydrocephalus there is communication
between the ventricular system and the
subarachnoid space. The commonest cause
of this group is post-infectious and post-
hemorrhagic hydrocephalus.
Causes of communicating
hydrocephalus
• Overproduction of CSF
• Blockage of CSF
circulation
• Blockage of CSF
resorption
• Hydrocephalus ex-
vacuo
• Normal pressure
hydrocephalus
Overproduction of CSF
• Excessive secretion of
CSF by the choroid
plexus as in cases of
choroid plexus
papilloma or
carcinoma. This is a
rare cause.
Blockage of CSF circulation
• This could be at any level of the
CSF circulation. It could be at
the level of the foramen of
Monro, with either unilateral or
bilateral occlusion of the
foramen of Monro giving
dilatation of one or both lateral
ventricles. This is commonly
seen in the colloid cyst and
tumors of the third ventricle.
Dandy Walker Syndrome
• A common cause of
obstructive hydrocephalus
is Dandy Walker
Syndrome where there is
blockage of foramina of
the 4th ventricle. This is a
congenital condition
associated with agenesis
of the cerebellar vermis
History
• In 1914, Blackfan and Dandy described some alterations
of the posterior fossa as (a)cystic dilatation of the fourth
ventricle, (b)hypoplasia of the cerebellar vermis,
(c)separation of the cerebellar hemispheres, (d)dilatation
of the mesencephalic aqueduct and (e)absence of the
mediate and lateral apertures of the fourth ventricle.
• These abnormalities were referred to as Dandy-Walker
malformation. In the 1970 and 80 different definitions were
introduced for similar abnormalities of posterior fossa and
then the classic definition of the Dandy-Walker
malformation.
Blockage of CSF resorption
• Poor resorption of
CSF into the venous
sinuses caused by
scarring of the
arachnoid villi and is
commonly seen after
meningitis or
hemorrhage
Hydrocephalus Ex Vacuo
• Hydrocephalus ex-vacuo
involves the presence of too
much CSF, although the CSF
pressure itself is normal. This
condition occurs when there is
damage to the brain caused by
stroke or other form of injury or
chronic neurodegeneration, and
there may be an actual
shrinkage of brain substance.
Normal pressure hydrocephalus
• Normal pressure hydrocephalus
(NPH) is usually due to a
gradual blockage of the CSF
drainage pathways in the brain.
NPH is an unusual cause of
dementia, which can occur as a
complication of brain infection
or bleeding (hemorrhage).
Normal pressure hydrocephalus
• In some patients, no • Symptoms progressively
predisposing cause can be worsen over weeks. In some
identified. patients, an improvement of
• In patients with NPH, although symptoms is noted immediately
the ventricles enlarge, the after the removal of spinal fluid
pressure of the CSF remains with a lumbar procedure.
within normal range.
• NPH is characterized by
gradual memory loss
(dementia), balance disorder
(ataxia), urine incontinence, and
a general slowing of activity.
Treatment of hydrocephalus
• The two most commonly used
shunt systems are the
ventriculoatrial (VA) and
ventriculoperitoneal (VP)
shunts. The VP shunt is most
commonly used as it is simpler
to place, extra tubing may be
placed in the peritoneum and
the consequences of infection
are less.
Treatment of hydrocephalus
• The VA shunt must be
accurately located in the atrium
and requires frequent revisions
as the child grows to maintain
the proper position of the distal
end. In addition, infection is a
more serious complication with
a VA shunt as its location in the
blood stream may lead to
sepsis.
Treatment of hydrocephalus
• Recently, in situations where both the
abdomen and vascular system can no
longer function to absorb CSF, Pediatric
Neurosurgeons have begun to place the
distal catheter in the pleural space (V-PL
shunt). The distal catheter is placed
through a small incision in the anterior
chest wall. As with the peritoneal shunt,
extra tubing can be placed, reducing the
need for further shunt revisions.
•
Treatment of hydrocephalus
• Shunt systems include three
components: (1) a ventricular
catheter, (2) a one way valve
and (3) a distal catheter. The
ventricular catheter is a straight
piece of tubing, closed on the
proximal end and usually with
multiple holes for the entry of
CSF along the proximal two
centimeters of the tube.
Treatment of hydrocephalus
• Shunts are composed of a material
called Silastic. Silastic is made
from a family of polymerized
organic compounds termed
silicone. Silicone is the substance
that has caused controversy in
breast implants because of the
association with auto immune
disorders. So far no cases of auto
immune disease have been linked
to the Silastic used in shunts.
Treatment of hydrocephalus
• The most common sites for
entry of the ventricular catheter
are a frontal position in line with
the pupil at the coronal suture, a
parietal position just above and
behind the ear, or an occipital
position three centimeters off
the posterior midline. The
position used varies with the
configuration of the ventricles,
the shape and size of the head
and the surgeon’s preference.
Shunt malfunction
• Common complications of VP shunt include
shunt malfunction or blockage and infection.
Malfunction may be related to growth and
the shunt will need to be replaced with a
longer catheter. Symptoms of shunt
malfunction or infection include headache,
fever, drowsiness,convulsions, increased
head circumference and bulging fontanelle.
Shunt malfunction
• If left untreated, shunt malfunction or infection is associated with
high morbidity and mortality rates. Most patients with these
complications have subtle presentations and nonspecific signs,
despite elevated ICP or CNS infection. The workup includes a
focused review of records, information from the patient’s family
or caretaker, and elements of a unique examination to supplement
routine work-up of the patient with a ventricular shunt. A shunt
series and head CT scan are part of the initial evaluation. Empiric
antibiotic therapy is initiated to cover Gram-positive organisms,
predominantly S. epidermidis, as well as the less common Gram-
negative and anaerobic organisms responsible for shunt
infections.
Spina Bifida
• Spina bifida berarti terbelahnya arcus vertebrae dan bisa
melibatkan jaringan saraf di bawahnya atau tidak.
• Spina bifida disebut juga myelodisplasia yaitu suatu
keadaan dimana ada perkembangan abnormal pada tulang
belakang, spinal cord, saraf-saraf sekitar dan kantung yang
berisa cairan yang mengitari spinal cord.
• Kelainan ini menyebabkan pembentukan struktur yang
berkembang di luar tubuh
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JENIS MALFORMASI SPINA BIFIDA :
• Spina bifida okulta
• Spina bifida kistika
• Spina bifida dg meningokel
• Spina bifida dg meningomielokel
• Spina bifida dg mielokisis/rakiskisis
Occulta
• Ringan
• Lengkung-lengkung vertebranya
dibungkus o/ kulit yg biasanya tidak
mengenai jaringan saraf yg ada di
bawahnya.
• Cacat di daerah lumbosakral ( L4 – S1 )
• Biasanya ditandai dg plak rambut yg
menutupi daerah yg cacat.
• Kecacatan ini disbbkan krn tdk
menyatunya lengkung-lengkung vertebra
( defek tjd hanya pd kolumna
vertebralis )
• Tjd pada sekitar 10% kelahiran
Kistika
• defek neural tube berat dimana jaringan saraf dan atau
meningens menonjol melewati sebuah cacat lengkung
vertebra dan kulit sehingga membentuk sebuah
kantong mirip kista.
• Kebanyakan terletak di daerah lumbosakral dan
mengakibatkan gangguan neurologis,
• Tetapi biasanya tidak disertai dengan keterbelakangan
mental.
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Meningokel
• Pada beberapa kasus hanya meningens saja yg
berisi cairan yg menonjol melalui daerah cacat.
• Meningokel merup. bentuk spina bifida di mana
cairan yg ada di kantong terlihat dr luar (daerah
belakang ), ttp kantong tsb tdk berisi spinal cord
atau saraf.
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Meningomielokel
• bentuk spina bifida dimana jaringan saraf ikut di dalam
kantong tersebut.
• Bayi yang terkena akan mengalami paralisa di bagian bawah
• affected babies: leg paralysis and bladder and bowel control problems
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Mielikisis/rakiskisis
• bentuk spina bifidaberat dimana lipatan-lipatan saraf gagal
naik di sepanjang daeratorakal bawah dan lumbosakral
• tetap sebagai masa jaringan saraf yg pipih.
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• Defek neural tube yg dimaksud a/ krn kegagalan pbtkan
mesoderm/neurorectoderm. PATOGENESIS
• Defek embriologi primer pd semua defek neural tube a/ kegagalan
penutupan neural tube, mempengaruhi neural & struktur kutaneus
ectodermal. Hal ini tjd pd hari ke 17 - 30 kehamilan.
• Selama kehamilan , otak, tulang belakang manusia bermula dr sel
yg datar, yg kmdn membentuk silinder yg disebut neural tube. Jika
bagian tsb gagal menutup atau tdpt daerah yg terbuka yg disebut
cacat neural tube .
Daerah yg terbuka itu kmgkn 80% terpapar atau 20% tertutup tulang
atau kulit.
• 90% dr kasus yg tjd bknlah faktor genetik / keturunan ttp sebag
besar tjd kombinasi faktor lingkungan dan gen dari kedua orang
tuanya.
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CAUSA & RISK
• Bahan teratogen yg dapat menyebabkan terjadinya defek
neural tube: carbamazepine, valproic acid, defisiensi folic
acid, sulfonamide.
• Riwayat keluarga dg defek neural tube
• Penggunaan obat-obat anti kejang
• Overweight berat
• Demam tinggi pd awal kehamilan
• Diabetes mellitus
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Medical Problems that occur
• Hydrocephalus (70-90%)
• Chiari II malformation (change the brain's
position)
• Tethered spinal cord (held in place by
connective tissue)
• Urinary tract disorders
• Latex allergy (73%)
• Learning disabilities (20%)
Screening and Diagnosis
• Prenatal Tests
AFP
Ultrasound
Testing of Amniotic fluid
Evaluation
Analysis of individual medial history
Physical examination
Evaluation of critical body systems
Imaging Studies
X-rays
Ultrasound
CT scan
MRI
Gait Analysis
Treatment
• No cure
• Regular check ups with
physician
• Surgery (24 hours after
birth)
• Medication
• Physiotherapy
Goals of Intervention
• Teaching gross motor and spatial skills to facilitate
coordination.
• Developing and maintaining fitness and flexibility to
emphasize self sufficiency.
• Encouraging movement and fitness to overcome susceptibility
to obesity.
• Developing physical skills that generalize to activities of daily
living and vocational skills.
• Promoting social development in recreational and group play
activities, such as aquatics.
• Providing appropriate social outlets for enjoyment and self
satisfaction on an individual basis as well as with family or
peers within the community.
Prevention
• Folic Acid -- 70% NTDs can
be prevented
• multivitamin of 400
micrograms of folic acid
every day
• every day foods: grain
products, fortified foods,
leafy-green vegetables,
dried beans, oranges, orange
juice
Most children that are treated early will have normal IQ and
be able to attend public schools
Mobility is the biggest concern for many patients with spina
bifida – lack of mobility can lead to obesity and scoliosis
With proper treatment, individuals will live well into
adulthood
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