Congenital Neurology

Malformation
Dr. Harmon Mawardi, Sp. A.

Hydrocephalus
Definition:
Blockage of CSF outflow in the
ventricles or in the
subarachnoid space over the brain
Etiologies:
Impaired cerebrospinal fluid (CSF)
flow, reabsorption, or excessive CSF
production.
Approximately 600-700 ml of CSF is
produced daily by the choroid

CSF
CSF is the clear, watery
liquid that protects the CNS
from injury and cushions
frombone structure.
Containing substances:
glucose, protein, and WBC

Classification based on
onset
1. Congenital:
At birth
Causes:
genetic
abnormality
fetus develops:
spina bifida and
encephalocele
large head

2. Acquired:
Any age
Causes:
head injuries
strokes
infections
tumors
bleeding in the
brain

Classification based on
mechanism
1. Communicating:
.impaired resorption
. subarachnoid/intraventricular
hemorrhage
. meningitis, Chiari malformation
. congenital absence of arachnoidal
granulations (Pacchioni's
granulations)

Classification based on
mechanism
2. Non-communicating
Foramen of Monro obstruction
dilation
lateral ventricles
Aqueduct of Sylvius obstruction
dilatation
both lateral and third ventricle
Fourth ventricle obstruction
dilatation
aqueduct, lateral and third ventricles
Foramina of Luschka and foramen of
Magendie obstruction: due to congenital failure
of opening (e.g., Dandy-Walker malformation)
Subarachnoid space obstruction due to
inflammatory or hemorrhagic fibrosing meningitis,
leading to widespread dilatation, including the

Hidrosefalus komunikans
Hidrosefalus non komunikans
(OBSTRUKTIF)

Sistem
Ventrikel
Pleksus Choroid
Ventrikel
Lateral

Foramen Monroe

Ventrikel 3
Aquaductus
Sylvii

Rongga
Subarachno
id

Foramen Luscha - Magendi

Ventrikel 4

Patofisiologi
Ketidakseimbangan
Etiologi

Produksi-absorpsi LCS

Etiologi
Akumulasi LCS

Dilatasi Ventrikel
Penekanan Substansi
Otak

Pemeriksaan Penunjang

Transluminasi
Radiologi rontgen Cranium
USG Cranium
CT scan Cranium
Ventriculography

Diagnosis
Mencari penyebab
Menentukan daerah gangguan
Transluminasi

Dandy-Walker malformation
(DWM)

DWM is a cystic dilatation of the fourth ventricle or a cyst in communication with the 4th
ventricle, often associated with hydrocephalus and the cause of DWM is unknown

Congenital Symptoms
Rapid increase in head circumstance
(unusual large head size)

Acquired symptoms
1. Headache
2. Vomiting and
nausea
3. Blurry vision
4. Papilledema
(swelling of the
optic disk)
5. Downward deviation
of the eyes (sunset)
6. Lethargy

7. Drowsiness
8. Irritability
9. Balance
problems
10. Bladder control
problems
11. Thinking and
memory problems
12. Delayed
development

Diagnosis
1. Clinical neurological evaluation
2. Cranial imaging:
.ultrasonography
.computer tomography (CT),
.magnetic resonance imaging (MRI)
.pressure-monitoring techniques

Treatment
Shunt system:
Flow of to another
area like peritoneum
(V-P shunt)

Ventriculostomy:
Small hole is made in
the
floor of the third
ventricle

Operasi Pemasangan Pintas

(Shunting)

Prognosis
Difficult to predict, needed
interdisciplinary
team:
1. Medical professionals
2. Rehabilitation specialists
3. Educational experts

Spina bifida
Categories
spina bifida occulta
spina bifida cystica
(myelomeningocele)
meningocele.
The most common location of the
malformations is the lumbar and sacral
areas of
the spinal cord.

Spina bifida occulta

Signs and symptoms

Skin abnormality
About 80% will have some type of skin abnormality overlying
the defect:
1. Hairy patch
2.

Fatty lump

3.

Hemangioma is a reddened or purplish spot on the skin

4.

Dark spots or biri the blue-black marks called Mongolian

spots

5.

Skin tract (tunnel) or sinus

6.

Hypopigmented spot an area with decreased skin color

Non occulta
1. Menigocele
.
.
.

Meningen herniate
through defect
Spinal cord normal
No threat except CSF
leakage: surgical to
prevent meningitis

2. Myelomeningocele
(meningomyelocele):
Open form of Spina Bifida
More often in families who
have already experienced
Most severe
Dysfunction many organs:
skleton, skin, GI tract and
genitourinaria
Hydrocephalus caused by
type II Chiari defect
Surgery must be done after
birth if CSF leakage

Increased intracranial pressure

(ICP)
Definition:
An increase in normal brain pressure ,
Caused by:
1. Increase in cerebrospinal fluid pressure
2. Increased pressure within the brain
matter:
. lesions (such as a tumor)
.swelling within the brain matter

ICP Value

Common causes
severe head injury
hypoxia-ischemia
subdural hematom
a
hydrocephalus
brain tumor
hypertensive brain
hemorrhage

intraventricular
hemorrhage
meningitis
encephalitis
aneurysm rupture
and subarachnoid
hemorrhage
status epilepticus
stroke

Symptoms
Infants:
Drowsiness
Separated sutures
Soft spot on top of
the head (bulging
fontanelle)
Vomiting

Older children and

adults:
Behavior changes
Headache
Progressive
decreased conscio
usness
, lethargy
Neurologic
problems
Seizures
Vomiting

Diagnosis

Principle Treatment

Treatment

Possible Complications

Prognosis