Hydrocephalus and

Anomalies of the CNS

 From neural plate to neural
tube. A: The neural plate on
the dorsal side of the embryo.
B,C,D. The plate folds to form
a groove that is transformed
into the neural tube. The
neural crest cells are pinched
off from the tube and develop
into sensory ganglion cells,
postganglionic autonomic
neurons and peripheral glial
(Schwann) cells (From Heimer,
1995).
Embryo at 24-25
days
 Major Events in Peak Age of Occurence Congenital Anomalies
Human Brain
Development

Neurulation 3 – 4 wks Encephalocoele

(Neural tube Myelomeningocoele
→Brain & Spinal cord Anencephaly
Neural crest Dermal sinus
→PNS & Tethered cord
Leptomeninges) Syringomyelia
Diastematomyelia
Prosencephalic 2 – 3 mos Holoprosencephaly
(Paired cerebral Dandy walker
Hemispheres,
Lateral Ventricle,
Basal ganglia, Thalami,
Optic
Nerves/
chiasm
Corpus Callosum,
Septum Pellucidum)
 Major Events in Peak Age of Occurrence Congenital Anomalies
Human Brain
Development

Neuronal 3 – 4 mos Aqueductal

Proliferation (Full completement of Stenosis
neurons in Hydrocephalus
cerebral
hemispheres)
Neuronal 3 – 5 mos Schizencephaly
Migration (Formation from Colpocephaly
4 layered embryonic Lissencephaly
cortex -> 6 layered Agenesis of corpus
adult cortex) callosum
Porencephaly
Organization 5 – postnatal years Perinatal Insults
(Synaptogenesis ICH/ Hypoxic
→programmed Ischemic
Cell death) Encephalopathy(HIE)
Tumors
CNS Infections
 Major Events in Peak Age of Occurrence Congenital Anomalies
Human Brain
Development

Myelination Birth – Postnatal yrs Perinatal Insults

(Formation of myelin -> ICH
electrical Tumors
conduction) CNS Infections
Anencephaly


▪ after the onset of neural fold development (16 days) but

before closure of the anterior neuropore (24 to 26 days).
▪ The stimulus is nonspecific because a variety of insults
have been implicated. These include:
• drugs
• Infections
• chemical disorders such as maternal diabetes or folic acid deficiency
• and irradiation
Anencephaly


4 basic defects:
▪ (a) A defective notochord and prechordal mesoderm
▪ (b) Failure of development of the meninges and cranial bones
exposes the brain to amniotic fluid, with subsequent
encephaloclastic degeneration of forebrain germinal cells.
▪c) Paraxial mesoderm fails to differentiate into well-formed
somites and hence into sclerotomes (primordium for the base of
the skull and vertebrae.)
▪ (d) A failure of prosencephalic and mesencephalic neural crest
formation and migration results in midfacial hypoplasia with
hypotelorism
Anencephaly


Examination of the nervous system shows:

▪SC, brainstem, and cerebellum are small.
▪Descending tracts within the spinal cord, particularly the
corticospinal tract, are absent.
▪Above the midbrain, glial and vascular tissue with remnants of
midbrain and diencephalon exist.
▪Pituitary is absent, with secondary adrenal hypoplasia.
▪Optic nerves are absent but the eyes are normal , indicating that
the anterior cephalic end of the neural tube, whence the optic
vesicles spring, closed and diverticulated properly.
 Anencephaly

▪ Calvarium fails to develop, and the frontal and parietal bones

are partially absent;
▪ Rostral half of the occipital bone is membranous and also is
deficient, but the posterior part, is preserved.
▪ Malformations of the foramen magnum and cervical vertebrae
are frequent.
▪ The reduced forehead and relatively large ears and eyes lend a
froglike appearance to the face;
▪ Facial structures are developed, but midfacial hypoplasia with
hypotelorism occurs in some cases , and there is an occasional
lateral cleft lip or palate.
Epidemiology

▪ Anencephaly is the most common major CNS malformation in

the West
▪ Incidence increases with increasing maternal age and
decreasing socioeconomic status.
▪ 37x more frequent in female than in male newborns
▪ Recurrence rate in families with an affected child is 35%
Clinical Manifestations

• Anencephalic patients do not survive infancy

• During their few weeks of life, they exhibit slow, stereotyped
movements and frequent decerebrate posturing.
• Head, facial, and limb movements can be spontaneous or pain
induced.
▪ The Moro reflex and some brainstem functions and automatisms,
such as sucking, rooting, and righting responses, are present and are
more readily and more reproducibly elicited than in healthy infants
 Clinical
Manifestations

▪ The presence of anencephaly and other open neural tube defects

can be predicted by measuring α fetoprotein (AFP) in amniotic
fluid or maternal serum.
▪ AFP is the major serum protein in early embryonic life,
representing 90% of total serum globulin
▪ Normal AFP in adult serum is less than 10 ng/mL. In normal
maternal serum and amniotic fluid, it ranges from 15 to 500 ng/mL.
▪ At 15 to 20 wks AOG, an AFP concentration of 1,000 ng/mL or
greater strongly suggests an open neural tube defect, and the
current screening of serum detects 79% of cases of open spina
bifida at 16 to 18 weeks
Clinical Manifestations
▪ Amniotic fluid AFP obtained between 15 and 20 weeks'
gestation is most specific
- however, closed neural tube defects such as skin- covered
lipomyelomeningoceles, encephaloceles, and
meningoceles go undetected.

▪ Mothers who have born one or more children with neural tube
defects, spinal dysraphism, or multiple vertebral anomalies;
who have a family history of any of these disorders; or who are
surviving patients with spina bifida are at risk for bearing
children with neural tube defects and should undergo
screening.
Clinical Manifestations

▪ Supplementation of the maternal diet with folic acid or with a

multivitamin preparation that contains folic acid even before
conception has been proposed to prevent neural tube defects

▪ Folic acid, ascorbic acid, and riboflavin -> given from at least
28 days before conception up to the second missed menstrual
period, reduced the recurrence rates for neural tube defects
▪ from 4.2% to 0.5% in mothers with a previous neural tube defect
pregnancy
▪ from 9.6% to 2.3% in mothers who had given birth to two or more
offspring with neural tube defects












Meningomyelocele (Spina Bifida) and Encephalocele (Cranium Bifidum)


▪ failure of bone fusion

▪ result is a bony cleft through which the meninges and varying
quantities of brain or spinal cord tissue protrude.
▪ In cranium bifidum, the neural herniation is termed
encephalocele and can consist of brain parenchyma and meninges
or only of meninges.
▪ In spina bifida, the herniation is called meningocele or
meningomyelocele
TERMINOLOGIES

Spina bifida occulta is a minor fusion failure of the posterior vertebral

arches unaccompanied by herniation of meninges or neural tissue.
Spina bifida cystica collectively designates meningocele,
meningomyelocele, and other cystic lesions
Rachischisis refers to a severe condition with an extensive defect of
the craniovertebral bone with exposure of the brain, spinal cord, and
meninges.
Myeloschisis is defect in the tissues over the lower spinal cord.
Neural tissue is exposed at the surface as a flat, red lesion with a
velvety appearance over the sacral region, without protruding as a
myelomeningocele sac
Pathogenesis

• Disorders of induction; they also are associated with major

abnormalities of cellular migration
• time specific -> which is why the most common sites for the
lesion in surviving children are either lumbosacral or occipital,
these being the last levels at which neural tube closure normally
occurs
• A simple meningocele results when the insult occurs after the
spinal cord has formed, whereas a myelomeningocele arises from
an earlier insult, which must occur before closure of the posterior
neuropore (i.e., before 26 to 28 days' gestation)
Pathology

Meningomyelocele
▪ 95% are myelomeningoceles and 5% are meningoceles
▪ A lumbar or lumbosacral defect is most common; it
corresponds to the site of the posterior neuropore closure.
▪ Cervical and thoracic meningoceles have narrow bases and
are usually not associated with hydrocephalus.
▪ By contrast, 90% or more of lumbosacral
myelomeningoceles are accompanied by Chiari type II
malformations and hydrocephalus
Pathology

Meningomyelocele

▪ Defects of cellular migration in the cerebral hemispheres are

extremely common -> heterotopia, schizencephaly, gyral
anomalies, agenesis of the corpus callosum, and mesodermal
ectopia
▪A number of mesodermal lesions accompany the ectodermal
defects-> widened spinal canal, posterior arches malformed,
mishapen vertebral bodies with resulting kyphosis or
scoliosis.
▪ Rib anomalies
▪ Skull defects in the membranous bones of the calvarium-> condition
termed lacunar skull or craniolacunia
Pathology

Meningomyelocele
▪ Deformities of the lower extremities are common and are of
two types.
▪ In the first type, the various clubfoot and rocker-bottom foot
deformities result from the unopposed action of the intrinsic foot
muscles or the muscles at the ankle joint.
▪ In the second type, the deformities are positional; they result from
intrauterine pressure on the paralytic limbs.
Spina Bifida Occulta

• No herniation of the meninges is present and the skin of the

back is completely epithelialized

• Radiography reveals a variety of deformities

• the most common of which are widening of the spinal canal, fusion of
the vertebral bodies, fused and malformed laminae, spina bifida, and,
sometimes, a midline bone mass within the spinal canal.
Spina Bifida Occulta

• These skin and bone abnormalities are indications that the

cord and nerve roots are malformed also.
• There may be a localized doubling of the cord (diplomyelia), a sagittal
splitting of the cord (diastematomyelia), absent or adherent nerve
roots, or an intradural lipoma attached to the cord.
•These lesions must be recognized because they can cause
progressive loss of neural functioning during the childhood
growth spurt
Cranium Bifidum

• Several types of simple midline or paired paramedian skull

defects are grouped under the term cranium bifidum
occultum.
• Excessively large anterior and posterior fontanelles

• Encephalocele is a much more serious condition, postulated

to represent a defect in the closure of the anterior neuropore
ENCEPHALOCOELES

•The incidence of cranium bifidum is approximately 1/10 that

of spina bifida cystica.
• In the Western world, approximately 85% of these lesions
are dorsal defects involving the occipital bone.
•In Asia, the majority of encephaloceles are anterior and
involve the frontal, nasal, and orbital bones
ENCEPHALOCOELE

•On examination, is usually fully epithelialized, although the

skin can be dysplastic. Its size ranges from the insignificant
to a sac that can rival the calvarium in size.
•Pedunculate lesions are less likely to contain neural tissue
than sessile lesions.
•Transillumination can provide an indication of neural tissue
in the sac
•Neuroimaging studies are definitive and detect associated
CNS abnormalities
Meningocele

•Herniation of only the meninges through the defective

posterior arches

•Meningomyelocele sac contains, in addition to cutaneous

and subcutaneous tissues, meninges, fragments of bone,
cartilage, and fibrous tissue, and neural elements.
• The neural tissue includes nerve roots and sometimes
dysplastic spinal cord fragments and poorly differentiated
neuroepithelium.
MENINGOCOELE
•In general, meningoceles are fully epithelialized and tend to
be more pedunculated than sessile lesions
•Some meningoceles contain a significant component of
adipose tissue and are designated lipomeningoceles.
• These have a poorer long-term prognosis because the lipomatous
portion often envelops nerve roots of the cauda equina and is not easily
dissected from the roots at the time of surgery without sacrificing roots
and creating a major neurologic deficit in the lower limbs
Clinical Manifestations
Meningomyelocele (Spina Bifida
Cystica).
•At birth, spina bifida cystica can assume a variety of
appearances. These range from complete exposure of neural
tissue to a partially epithelialized membrane
•Usually, the sac is covered by a thin membrane that is prone
to tears, through which the CSF leaks.
•Of defects, 95% are myelomeningoceles and produce
neurologic dysfunction corresponding to their anatomic level
Neurologic Syndromes with
Myelomeningoceles
Lesion Level Spinal-Related Disability

Above L3 Complete paraplegia and dermatomal para-

anesthesia
Bladder and rectal incontinence
Nonambulatory
L4 and below Same as for above L3 except preservation of hip
flexors, hip adductors, knee extensors
Ambulatory with aids, bracing, orthopedic surgery

S1 and below Same as for L4 and below except preservation of

feet dorsiflexors and partial preservation of hip
extensors and knee flexors
Ambulatory with minimal aids
S3 and below Normal lower extremity motor function
Saddle anesthesia
Variable bladder and rectal incontinence
MYELOMENINGOCOELE
•Hydrocephalus associated with lumbosacral
myelomeningoceles -> type II Chiari malformation
•It is manifest at birth in 50% to 75% of cases. In approximately 25% of
infants with this condition, the head circumference is below the fifth
percentile

•In these infants and in the group whose head circumference

is normal at birth, the ventricles are dilated at birth. This
finding suggests that hydrocephalus almost always precedes
operative closure of the myelomeningocele sac
Clinical manifestations
•Clinical signs of progressive hydrocephalus accompanying a
myelomeningocele include an
•abnormal increase in head circumference
• full fontanelle
•spreading of sutures
•hyper-resonant calvarial percussion note,
•dilated scalp veins
•deviation of the eyes below the horizontal (setting sun sign)
•strabismus, and irritability.
•MRI studies have become the definitive diagnostic procedure
for the evaluation of spina bifida cystica and the various other
dysraphic conditions
Clinical manifestations
•Though some infants with lumbosacral lipoma have no
neurologic deficit, it is more common to find the lower lumbar
or sacral segments affected, with resultant motor or sensory
loss in the feet and bladder and bowel dysfunction
•Surgical intervention is advised at approximately age 3
months, not simply for cosmetic reasons, but, more
important, to decompress and untether as far as possible the
spinal cord, thus preventing progressive neurologic
dysfunction.
• These patients require full orthopedic and urologic
evaluation.
•A considerable proportion present with urologic symptoms, notably
incontinence, soiling, and recurrent urinary tract infections
Clinical manifestations
•Malformations and infections of the genitourinary tract occur
in up to 90% of newborns with spina bifida cystica
•Renal disease is the most common cause of morbidity and
mortality after age 3 years
•The three fundamental urologic problems are infection, incontinence,
and retrograde high pressure on the upper urinary tract, producing
hydronephrosis and hydroureter.
•Therefore, early and constant monitoring of the urinary tract with
intravenous pyelograms, cultures with colony counts, and voiding
cystography is an essential part of any therapeutic program
 SACROCOCCYGEAL
TERATOMA

•only approximately 1/40 as frequent as spina bifida

cystica
• with a marked female preponderance.
•located in the sacrococcygeal region
•other than the breakdown of skin owing to tumor
necrosis, no cutaneous abnormalities are seen.
•Deformities of the lower extremities and neurologic
deficits are unusual
•Xray of the vertebral column is normal.
Spina Bifida Occulta


•Refers to a simple bony anomaly in which there has not been

complete fusion of the laminae in the midline
•is extremely common
•generally involves the posterior arches of L5 and S1
•it is usually asymptomatic and is found incidentally on
radiographic examination, the skin of the low midback region
can manifest a hairy tuft, dimple, dermal sinus, or mass
caused by a subcutaneous lipoma or teratoma.
Spina Bifida Occulta

•In the child who has a neurogenic bladder; foot deformities,
particularly a broad, shortened, or elevated arch of the foot;
or a variety of neurologic deficits of the lower limbs, spina
bifida occulta can suggest an underlying malformation of the
spinal cord .
•In these patients, neurologic deficits, even in the absence of
urinary tract or cutaneous abnormalities, are an indication for
neuroimaging studies
Cranium Bifidum Occultum

•The degree of neurologic and developmental damage

depends on the :
•the quantity of protruded tissue,
•the degree of hydrocephalus,
•the extent of hindbrain lesions or cerebral hemisphere dysplasias that
result from the associated disorder of cellular migration and organization
Treatment : SPINA BIFIDA CYSTICA 


•Skin closure within 24 hours of birth and no later than 1 week

of age reduces mortality and morbidity from meningitis and
ventriculitis
•Early surgery undoubtedly prevents further loss of
functioning neural tissue as a result of trauma and infection.
Additionally, prompt closure results in shorter hospitalization,
easier care of the infant, and psychological benefit to the
family and nursing staff
•It is important to emphasize to the family that closing the
defect does not reverse the neurologic impairment already
present, and that often much additional treatment will be
necessary.
Treatment: Spina Bifida
Occulta.

•Clear indications for surgery include
•the finding of progressive neurologic defects,
•the presence of an associated tumor or a dermal sinus that carries the
risk of meningitis or deep abscess,
•history of meningitis
•When vertebral column malformation is disclosed on the
radiographic films, follow-up imaging studies are necessary.
•Should these reveal an abnormal attachment of the cord or
nerve roots, operative intervention to remove that attachment
is required as a prophylactic measure, even when no history
of progressive damage exists.
Treatment Meningocele


•If the meningocele is fully epithelialized and not draining CSF

and if the skin over the sac is not ulcerated, immediate repair
is not needed and surgery can be deferred for several
months.
•Imaging studies of the brain are suggested to assess
ventricular size and to detect those few infants who develop
hydrocephalus.
Treatment : Cranium Bifidum Cysticum.


•requires immediate repair if CSF is leaking or if the defect is

not covered by skin.
• If the defect is completely epithelialized, it should be closed
before the infant's discharge from the hospital; if the lesion is
small and less unsightly, closure can be postponed until later
in the first year of life
•When the lesion is tender and a source of distress to the
infant, early surgical repair is indicated.
Prognosis


•Some 45% of infants with myelomeningoceles who are not

treated surgically die within the first year of life, most often as
a consequence of hydrocephalus or CNS infections .
•Of the survivors, approximately 50% are minimally
handicapped . The rest are severely handicapped. With
operation, approximately 90% survive into their teens, but
less than 33% of these are minimally handicapped
•When death occurs after early childhood, it is usually the
result of urinary tract infection with sepsis and renal failure.
Chiari Malformations
•characterized by cerebellar elongation and protrusion
through the foramen magnum into the cervical spinal cord.
Pathogenesis
•The traction theory suggests that tethering of the spinal cord
pulls the caudal medulla oblongata and posterior cerebellum
through the foramen magnum as the spinal column grows
faster than the spinal cord
•The pulsion theory suggests fetal hydrocephalus causes
pressure and displacement downward of the brainstem and
cerebellum during development
Chiari Malformations

•The hydrodynamic or oligo-CSF or so-called unified theory of

Chiari malformations attributes a paucity of sufficient fluid to
distend the cerebral vesicles early in cerebral development
•The crowding theory asserts that the posterior fossa itself is
too small and the confined neural structures within it are
forced through the foramen magnum as they grow
•The birth trauma theory
•The molecular genetic hypothesis that the malformation is
caused by ectopic expression of homeobox genes
Types of Chiari
Malformations
Type I.
•clinically the least severe, the medulla is displaced caudally
to the spinal canal and the inferior pole of the cerebellar
hemispheres is protruded through the foramen magnum in
the form of two parallel, tonguelike processes. This cerebellar
displacement can extend as far down as the third cervical
vertebra.
Types of Chiari
Malformations
Type II.
•most common of the Chiari
malformations to be
diagnosed in childhood
•any combination of features
of type I malformation can be
associated with
noncommunicating
hydrocephalus and
lumbosacral spina bifida. the
medulla and cerebellum,
together with part or all of the
fourth ventricle, are displaced
into the spinal canal
Types of Chiari
Malformations
Type III
•can have any of the features of types I or II. Additionally, the
entire cerebellum is herniated through the foramen magnum
with a cervical spina bifida cystica
Type IV
•also very uncommon and involves an incomplete or
underdeveloped cerebellum.
Diplomyelia and
Diastematomyelia


•Diplomyelia is a complete duplication of a region of spinal

cord; diastematomyelia is a vertical division of the spinal cord
into two separate halves, usually by an abnormal bony,
cartilaginous or fibrous septum over several segments.
•Progressive sensorimotor deficits represent the most
common clinical manifestation
Syringomyelia and
Hydromyelia
•Hydromyelia is an enlargement or dilatation of the central
canal of the spinal cord , can occur as a developmental
anomaly, associated with Chiari malformations in particular
•Syringomyelia involves extension of an enlarged central
canal into the cord parenchyma, usually one or both dorsal
horns and dorsal columns, can be an acquired lesion of the
spinal cord secondary to trauma, infarction, or intramedullary
tumors
Neurodermal Sinus
•Relatively frequent among cases of occult spinal dysraphism
•They represent a communication lined by stratified squamous
epithelium between skin and any portion of the neuraxis. Most
commonly, the defects are in the lumbosacral region
•The sinus is often surrounded by a small mound of skin, the
dimple, or other cutaneous lesions such as tufts of hair or
angiomas
•The presence of an open sinus tract can provide a portal of entry
for bacterial infections, and a neurodermal sinus is an important
cause for recurrent meningitis
•These lesions require surgical exploration and complete
excision of the sinus before the development of symptoms.


Holoprosencephaly



•disorder of forebrain cleavage of the early prosencephalon to
form two distinct telencephalic hemispheres
•The anatomic forms of holoprosencephaly can be defined by
CT, MRI, and neuropathologic examination.


Holoprosencephaly



•Alobar holoprosencephaly
• The most extreme form
• characterized by a monoventricle continuous with the third ventricle, so
that foramina of Monro cannot be recognized.
•This single midline ventricle is large, and the cerebral cortex and
hippocampi are continuous across the frontal midline
• The third ventricle may be atretic because of nonfusion of the thalamus
or many be large and incorporated into the forebrain monoventricle.
• Hydrocephalus may be present because of aqueductal atresia,
especially in cases with midfacial hypoplasia
Holoprosencephaly


Semilobar holoprosencephaly
• intermediate degree of severity
• an incomplete hemispheric fissure is seen posteriorly,
and the occipital lobes and the occipital horns of the lateral
ventricles are well differentiated

Lobar holoprosencephaly
• the mildest form
• partial fusion of the hemispheres or sometimes
of the hippocampus, occurs frontally, with complete
separation occipitally.
Holoprosencephaly

CLINICAL MANIFESTATION

•Highlighted by midline facial abnormalities, seen in the large
majority of children with alobar holoprosencephaly
•In alobar holoprosencephaly:
• neurologic picture is characterized by severe to profound mental
retardation, seizures, rigidity, apnea, and temperature imbalance.
•Hydrocephalus can develop as a consequence of aqueductal
obstruction, and associated hypothalamic or pituitary malformation can
induce endocrine disorders; epilepsy is variable
Septo-Optic-Pituitary
Dysplasia
• disorder of midline cleavage and hypoplasia of median
diencephalic and telencephalic structures.
• Includes:
• agenesis of the septum pellucidum
• hypoplasia of the optic nerves and chiasm with resultant blindness or
severe visual impairment
• hypoplasia of the infundibulum with growth hormone deficiency and
short stature, and,
•in approximately one-third of children, diabetes insipidus
• Growth hormone deficiency is the most common isolated
posterior pituitary insufficiency
• Insult begins at approximately 37 days' gestation
DISORDERS OF CELLULAR
PROLIFERATION

• Severely hypoplastic brains are found that appear to be
developmental arrests at early embryonic or fetal stages.
• These maturational arrests appear to be a failure of adequate
cellular proliferation in the neural tube, and the etiology is
probably multiple.
• Congenital viral infections often produce brains that are
excessively small and lack the number of neurons and glial
cells expected, but this is often the result of microinfarcts due
to endothelial cell and vascular involvement.
DISORDERS OF
CELLULAR MIGRATION
(1 TO 7 MONTHS' GESTATION)


• Migratory disorders develop when neuroblasts of the

subventricular zone (i.e., the germinal matrix), which forms
the wall of the lateral ventricles, fail to reach their intended
destination in the cerebral cortex.
Schizencephaly


•Characterized by clefts placed symmetrically within the

cerebral hemispheres and extending from the cortical surface
to the underlying ventricular cavity
•The cerebral cortex that surrounds the cleft may be normal or
show areas of polymicrogyria.
SCHIZENCEPHALY vs
PORENCEPHALIC CYST

• Distinguished from porencephaly caused by a variety of

vascular or infectious insults to the brain during late fetal or
early infantile life.
• A porencephalic cyst results from the dissolution of necrotic
regions of brain, with cavitation and cyst formation within the
parenchyma of the cerebral hemispheres.
•Porencephalic cysts communicate with the ventricular
system or may extend to the cerebral cortical surface but do
not destroy the thin pial membrane.
•They are asymmetric, not aligned with the primary fissures,
and unassociated with major cerebral migration defects.
SCHIZENCEPHALY:

CLINICAL MANIFESTATION
• Characterized by a wide range of neurologic and
developmental defects.
• Epilepsy may be the most serious complication, and
seizures often are the presenting symptom.
• Hypotonia,hemiparesis, or spastic quadriparesis can be
accompanied by a seizure disorder and microcephaly.
• Imaging studies usually show bilateral, symmetric, or
asymmetric clefts
SCHIZENCEPHALY VS
PORENCEPHALIC CYST

• On clinical grounds porencephaly differs from

schizencephaly in that the patient frequently has a well-
documented history of a destructive insult to the brain, and
neurologic deficits are often focal, asymmetric, or silent and
compatible with relatively normal development.
•Unlike schizencephaly, a porencephalic cyst can occur as a
one-way ball valve type communication with the ventricular
system.
• It can enlarge progressively and behave like an expanding
lesion impinging on the ventricular system to produce
hydrocephalus
Lissencephaly (Agyria-
Pachygyria, Macrogyria)


• Literally means smooth brain

• The term is used synonymously with agyria.
• Cerebral hemispheres approximate the smooth 20-week fetal
cerebral cortex, with absence of secondary sulci.
• The condition results from a migratory defect believed to
occur between 12 and 16 weeks' gestation.
Lissencephaly (Agyria-
Pachygyria, Macrogyria)

•The insult prevents succeeding waves of migrating neurons
from reaching their destined positions in the cerebral cortex.
•Thus, gray matter heterotopia, macrogyria, polymicrogyria, and
schizencephaly, together with defective cortical lamination, often
accompany this condition

• Two major types :

•Type I reveals that the cortex is four-layered
•Seen in Miller-Dieker syndrome
•The LIS1 gene is strongly expressed in Cajal-Retzius neurons and
periventricular neuroepithelium and is essential for the normal course
of radial migration 

LISSENCEPHALY

•Type II - is characterized by an almost complete absence of

cortical layering.
• Cortical neurons are randomly displaced and disoriented, so that
pyramidal neurons normally confined to layers 3, 5, and 6 are found
throughout the cortex
• Seen in Walker-Warburg syndrome and in Fukuyama congenital
muscular dystrophy
• Accompanied by hydrocephalus – results from meningeal thickening
and obliteration of the SAS around the BS and base of brain
Clinical Manifestation
• The clinical picture of complete lissencephaly type I is
homogeneous.
• All patients have profound mental retardation, marked
hypotonia (hypotonic cerebral palsy), and seizures. These
may include massive myoclonus and tonic seizures, which
often are preceded by infantile spasms.
•Microcephaly was present in approximately one-half of
patients
pachygyria

• MRI shows an abnormally thick cortex, with white matter not

penetrating into the convolutions. Both entire hemispheres
are involved
• The toxic stimuli that induce macrogyria can occur up to the
fifth month of gestation, by which time the primary sulci have
already become elaborated. Thus, secondary sulcation is
aborted and tertiary sulcation is prevented.
• Other migrational anomalies are associated, and the clinical
picture is similar to that seen in lissencephaly type I, but less
severe.
•Because the anomalies tend to be more asymmetric, the
neurologic deficits are often lateralized.
Polymicrogyria

• Polymicrogyria results from an insult to the nervous system

sustained before the fifth month of gestation.
•The affected brain resembles a chestnut kernel and is
characterized by an excess of secondary and tertiary sulci,
resulting in gyri that are too small and too numerous .
• Microscopically, the brain resembles that of a 4- to 6-month-
old fetus.
Subcortical Laminar Heterotopia
(Band Heterotopia, Double Cortex)

• Rare genetic disorder that is transmitted as an X-linked
dominant trait
• On pathologic examination, arrested radial neuroblast
migration in the cerebrum is seen, so that a layer of gray
matter heterotopia forms beneath the normal surface cortex
Agenesis of the Corpus Callosum


• Corpus callosum is the largest interhemispheric

commissure.
• The failure of this commissure to form is traditionally
regarded as a a midline defect because normal callosal fibers
cross the midline, but it should be reclassified as a disorder
of axonal projection
Agenesis of the
Corpus Callosum
• An integral part of Aicardi syndrome.
• This condition, described in female patients only, is characterized by
severe mental retardation, generalized tonic-clonic and myoclonic
seizures that have their onset between birth and age 4 months, and
chorioretinal lacunae.
MICROCEPHALY


• Head circumference, as measured around the forehead and

the occipital protuberance, that is more than two standard
deviations below the mean for age, sex, and race
• Head circumference should always be compared with other concurrent
growth parameters: If the child has a weight and a length or a height also
at or below the 2nd centile, the apparent microcephaly may be less
significant than if these other measures of growth are at or above the
50th centile
MICROCEPHALY


• Except in cases of premature closure of the sutures

(craniosynostosis), the small size of the skull reflects a small
brain, but it is not the size of the brain that determines the
presence of mental retardation, but the underlying structural
pathology of the brain.
• An abnormally small brain results either from anomalous
development during the first 7 months of gestation (primary
microcephaly) or from an insult incurred during the last 2
months of gestation or during the perinatal period (secondary
microcephaly).
Primary Microcephaly


• Results from a variety of genetic and environmental insults

that cause anomalies of induction and migration.

• Micrencephaly, by contrast with microcephaly, denotes a

small brain or cerebral hypoplasia rather than a small head,
and is an imaging or neuropathologic diagnosis.
Micrencephaly can coexist with microcephaly or with a
normal-sized head
Primary Microcephaly
• Disorders of Karyotype - Numerous chromosomal disorders,
including trisomies, deletions, and translocation syndromes,
are associated with primary microcephaly
• Irradiation- result from exposure to ionizing radiation during
the first two trimesters, particularly between 4 and 20 weeks'
gestation. The earlier the insult, the smaller is the brain and
the more disabling are the resulting neurologic abnormalities
• Infections in Utero - A variety of infectious agents, notably
cytomegalovirus, Toxoplasma, and the rubella virus
• Chemical Agents- Drugs implicated include cortisone,
sulfhydryl enzyme inhibitors, aminopterin,
triethylenemelamine, and nitrogen mustard
Secondary Microcephaly
• A variety of insults, infectious, traumatic, metabolic, and
anoxic, occurring during the last part of the third trimester,
the perinatal period, and early infancy cause destruction of
brain with multiple areas of cystic degeneration,
encephalomalacia, and porencephaly, accompanied by
inflammatory gliotic scarring and shrinkage.
Diagnosis
•Serologic studies for intrauterine infections, cytogenetics,
aminoacid screening
•CT for intracranial calcifications should be considered.
•MRI demonstrates abnormalities in cortical architecture

✓Craniosynostosis can be distinguished from microcephaly

by an abnormally shaped skull and by the presence at birth of
bony union between sutures.
CRANIOSYNOSTOSIS
• Premature closure at birth of one or more cranial sutures.
•Simple when only one suture is fused
•Compound when two or more sutures are affected.
• Primary craniosynostosis results from an abnormality of the
mesenchymal matrix and is not the consequence of impaired
brain growth.
•Secondary craniosynostosis is the consequence of one of
various mechanical, metabolic, or hematologic disorders.
CRANIOSYNOSTOSIS
• Craniosynostosis can be an isolated phenomenon or can
form part of a generalized dysmorphologic, chromosomal, or
genetic syndrome
• Several well-defined genetic diseases are known to
associated with craniosynostosis and for which the specific
genetic mutation is demonstrated; these include Apert,
Crouzon
CRANIOSYNOSTOSIS
• In the healthy newborn, all sutures are separated by several
millimeters, except the metopic suture, which closes antenatally.
• Metopic craniosynostosis, which manifests itself by a midfrontal
ridge, is relatively common in small infants but is of little or no clinical
significance. No known neurologic consequences exist, and surgery
is contraindicated.
• By age 3 months, the posterior fontanelle is closed.
• 6 months, fibrous union of suture lines occurs and serrated
edges interlock.
• 20 months, the anterior fontanelle is closed.
• 8 years, ossification of craniobasal bones is complete.
•12 years, the sutures cannot be separated by raised intracranial
pressure; they continue to be visible on radiography until age 20
years.
CRANIOSYNOSTOSIS
Sagittal Scaphocephaly - Dolichocephaly
Both coronals Acrocephaly
One coronal Plagiocephaly
All in vault Oxycephaly
Metopic Trigonocephaly
Clinical Manifestations :
CROUZON SYNDROME
• Premature closure of multiple sutures is associated with an
abnormally high forehead, hypertelorism, shallow orbits with
resultant exophthalmos, micrognathia, choanal atresia,
prognathism, beaked nose, and high arched palate
• associated with normal intellect.
• Chronic tonsillar herniation accompanies Crouzon
syndrome
• Hydrocephalus develops in a large proportion of patients
• Hereditary or familial, and its gene has been mapped to the
long arm of chromosome 10 (10q26).
Clinical Manifestations :
APERT SYNDROME

• Head and facial configuration are similar Crouzon syndrome,

but syndactyly or polydactyly is present
• Sporadic.
• In the majority, the condition results from one of two
mutations in the gene for fibroblast growth factor receptor 2
• Nonprogressive ventriculomegaly, hydrocephalus, and
megalencephaly are often demonstrated
• Only a small proportion of patients with Apert syndrome
have normal intelligence, and malformations of the limbic
structures, corpus callosum, and gyral abnormalities are
common
Diagnosis
• In the small infant, the diagnosis can be suspected in the
presence of an abnormally shaped head or face.
• CT is usually definitive. It reveals the extent of premature
fusion and frequently shows an increased density of the
fused suture.
•The early radiologic change is a loss of the pattern of interdigitations of
the bone, until the suture becomes a simple line of separation of the
bones
Treatment


• Treated surgically in children with multiple suture closure to

prevent any brain damage that could result from chronic
increased intracranial pressure and in children with
synostosis of only one suture to affect a good cosmetic result
 Common Causes of Macrocephaly and Time
of Clinical Presentation
Early Infantile Hydrocephalus (progressive or Spina bifida cystica,
(Birth to 6 mo of arrested)
 cranium bifidum, Chiari
age) Induction disorders malformations (types I, II,
and III), aqueductal
stenosis,
holoprosencephaly
Mass lesions Neoplasms, atrioventricular
malformations, congenital
cysts
Intrauterine infections Toxoplasmosis, cytomegalic
inclusion disease, syphilis,
rubella
Perinatal or postnatal infections Bacterial, granulomatous,
parasitic
Perinatal or postnatal hemorrhage Hypoxia, vascular
Hydranencephaly malformation, trauma
Subdural effusion
Hemorrhagic, infectious, cystic
hygroma
Normal variant (often familial)
 Common Causes of Macrocephaly and Time
of Clinical Presentation
Late Infantile (6 Hydrocephalus (progressive or Tumors, cysts, abscess
mo to 2 yr of arrested)

age) Space-occupying lesions
Postbacterial or granulomatous
meningitis

Posthemorrhagic Trauma or vascular

Dandy-Walker syndrome
Subdural effusion
Increased intracranial pressure
syndrome
Pseudotumor cerebri
malformation
Lead, tetracycline,
hypoparathyroidism,
corticosteroids, excess or
deficiency of vitamin A,
cyanotic congenital heart
disease
Late Infantile (6 mo Primary skeletal cranial dysplasias
to 2 yr of age) (thickened or enlarged skull)

Osteogenesis imperfecta,
hyperphosphatemia, osteopetrosis,
rickets
Megalencephaly (increase in brain
substance)

Metabolic central nervous system Leukodystrophies (e.g.,

diseases Canavan, Alexander), lipidoses
(Tay-Sachs), histiocytosis,
mucopolysaccharidoses

Proliferative neurocutaneous von Recklinghausen tuberous

syndromes sclerosis, hemanglomatosis,
Sturge-Weber

Cerebral gigantism Sotos syndrome

Achondroplasia
Primary megalencephaly May be familial and
unassociated with abnormalities
of cellular architecture, or
associated with abnormalities or
cellular architecture
 Common Causes of Macrocephaly and Time
of Clinical Presentation
Early to Late Hydrocephalus (progressive or
Childhood
 arrested)

(older than 2 yr Space-occupying lesions
of age)
Preexisting induction disorder
 Aqueductal stenosis
Postinfectious

Hemorrhagic

Chiari type I malformation

Megalencephaly

Proliferative neurocutaneous
syndromes

Familial

Pseudotumor cerebri

Normal variant
DIAGNOSIS
• Should ultrasonography demonstrate ventricular
enlargement, the next question to be answered is whether
ventriculomegaly is atrophic or is caused by obstruction and
increased intracranial pressure.
•Routine MRI or cine-MRI is useful to ascertain the presence
of CSF flow through the foramen of Monro, aqueduct of
Sylvius, and foramen of Magendie.
•CT scans are essential to assess the presence of intracranial
calcifications produced by prenatal infections,
hypoparathyroidism, or parasitic cysts
Megalencephaly
• Results from excessive amounts of normal brain
constituents, cellular proliferation, inadequate physiologic
apoptosis, or storage of metabolites.
• The classical clinical picture of true megalencephaly is one
of mental retardation, seizures, hypotonia or mild pyramidal
tract, and cerebellar deficits.
• These symptoms are occasionally progressive. The skull
bones are thin, the anterior fontanelle is large, and sutures
are slow in closing.
• Although the prevalence of megalencephaly is increased in
children with learning disabilities , the majority of children
with this condition have normal to superior intelligence, and a
large brain has been seen in many geniuses.
Hemimegalencephaly


• Asymmetric hamartomatous dysgenesis limited to one

cerebral hemisphere and causing that side of the brain to be
larger than the other.
• Classified as isolated, not associated with other
abnormalities, or syndromic, associated in particular with
several neurocutaneous syndromes: most frequently
epidermal nevus syndrome, Klippel-Trenaunay syndrome, and
Proteus syndrome
Hydrocephalus
• During the 2nd AOG, choroid plexi primordia develop, first as a
mesenchymal invagination of the roof of the fourth ventricle,
then by a similar invagination of the lateral and third ventricles
• 3rd AOG, the plexi fill 75% of the lateral ventricle and then begin
to decrease in relative size.
• During the third trimester, the plexi become cellular and
glycogen rich.
• After birth, glycogen is lost as the cells begin aerobic oxidation.
✓As the plexi develop in the 2nd AOG, the fetal ventricles are
large relative to the thickness of the cortical wall, and this
relative dilatation disappears with further development of white
and gray matter
✓ Complete circulation from ventricle to the subarachnoid
spaces does not occur until after 2 months' gestation
Hydrocephalus
•Most of the CSF is produced within the ventricular system by
the choroid plexi; however, a sizable proportion, some 10% to
20%, evidently is formed by the parenchyma of cerebrum and
spinal cord
•CSF flow from the site of its production in the ventricles to its
absorption in the arachnoid (pacchionian) granulations.
• In the adult human, CSF is secreted at a rate of 500 mL per
24 hours, or between 0.2% and 0.5% of the total volume per
minute
• The rate of CSF formation ranges from 0.3 to 0.4 mL/min in children
and adults
• Total CSF volume in the newborn is 50 mL and increases with age to an
adult volume of 150 mL.
Hydrocephalus
•Three factors control CSF drainage:
• CSF pressure,
• Pressure within the dural sinuses and the cortical venous system, and
• Resistance of the arachnoidal villi to CSF flow
• Changes in any of these variables significantly affect CSF
flow.
•The normal lumbar CSF pressure is 150 mm H2O in the
laterally recumbent adult and up to 180 mm H2O in the child,
•The capacity for drainage is two to four times the normal rate
of CSF production
Pathogenesis


• Any block in the CSF pathway from the site of formation to

that of absorption results in increased CSF pressure.
• Hydrocephalus is divided into noncommunicating and
communicating forms.
•Non communicating hydrocephalus- SAS is usually compressed ; the
obstructive site is within the ventricular system, including the outlet
foramina of the fourth ventricle.

•Communicating hydrocephalus - SAS is enlarged ; the obstruction

occurs distal to the fourth ventricle foramina, in the cisterns or cerebral
subarachnoid space itself.
EXTERNAL
HYRDROCEPHALUS

• Seen in infants with enlarged heads or rapid head growth.

• SAS are widened bilaterally in the frontal and sometimes in
the frontoparietal regions.
•The ventricles are of normal size or only slightly enlarged.
• Gradually resolves during the second year of life
• More common in premature infants, and in 88% of cases a
family history of enlarged head exists
• Probably results from a developmental delay in arachnoidal
function, but could also be acquired residually on trauma,
spontaneous subarachnoid hemorrhage, or infection
Pathology


•The three general causes of hydrocephalus are:

• Excess secretion caused by choroid plexus papilloma,
• Obstruction within the ventricular cavity (noncommunicating
hydrocephalus), and
• Absorptive block within the subarachnoid space (communicating
hydrocephalus).
Choroid Plexus Papilloma

• The papilloma is a large aggregate of choroidal fronds that
are microscopically similar to normal choroid plexi and
produce great quantities of CSF.
• Accounting for 1% to 4% of childhood intracranial tumors
• Usually occur after infancy and are associated with signs of
increased intracranial pressure
• Obstruction of CSF flow is responsible for hydrocephalus, in
at least some cases, the tumor produces hydrocephalus by
CSF over secretion
Obstruction within the
Ventricular Cavity

• Any obstruction from the foramina of Monro or to the
foramina of Magendie and Luschka produces
noncommunicating hydrocephalus.
• Space-occupying lesions in the cerebral hemispheres tend
to compress the ventricular system, whereas tumors in the
posterior fossa or arteriovenous malformations involving the
vein of Galen can produce kinking or obstruction of the
aqueduct or obstruction at the fourth ventricular outflow.
Aqueductal Stenosis


• Responsible for 20% of cases of hydrocephalus.

• Its incidence ranges from 0.5 to 1.0 in 1,000 births, with a
recurrence risk in siblings of 1.0% to 4.5% .
• Normally, the aqueduct, lined by ependyma, is 3 mm in length at birth
and its mean cross section is 0.5 mm2
• The aqueduct is smaller but remains histologically normal.
•Constrictions of the aqueduct to less than 0.14 mm2 can
occur at two points:
• first is beneath the midline of the superior quadrigeminal bodies
•second is at the intercollicular sulcus
Aqueductal Stenosis


• The onset of symptoms is usually insidious and

can occur at any time from birth to adulthood.
• A small percentage of the anomalies (approximately 2%) are
caused by one or more sex-linked recessive genes .
• This entity, more correctly known as X-linked
hydrocephalus, has been shown to be caused by a mutation
in the L1 gene.
• CRASH syndrome - corpus callosum hypoplasia, retardation, adducted
thumbs, spastic paraplegia, and hydrocephalus .
• The presence of these malformations helps to explain the intellectual,
cognitive, and motor handicaps even after the hydrocephalus is
compensated by shunting
Aqueductal Gliosis
• A postinfectious noninflammatory process, is usually
secondary to a perinatal infection or hemorrhage.
•With the increasing survival of newborns affected with
bacterial meningitis or intracranial hemorrhage, this condition
has assumed greater importance
• The ependymal lining is permanently destroyed because it is
highly vulnerable to insult and cannot regenerate; the
aqueduct is replaced by multiple ependymal cell clusters and
rosettes of blind tubules.
Aqueductal Gliosis
•Marked fibrillary gliosis of adjacent tissue is evident, and the
occlusion is progressive.
•As with aqueductal stenosis, its onset is insidious.
• Occasionally accompanies neurofibromatosis.
✓Aqueductal stenosis and gliosis have been produced in
experimental animals by intrauterine viral infections, and a
patient has been reported with aqueductal stenosis after
mumps encephalitis
Dandy-Walker Malformation

• Characterized by a triad of
• complete or partial agenesis of the cerebellar vermis,
• cystic dilatation of the fourth ventricle, and
• enlarged posterior fossa with upward displacement of the transverse
sinuses, tentorium, and torcular
• Defect of neural tube closure at the cerebellar level
occurring at approximately 4 weeks' gestation
• Incidence is 1 per 25,000 to 30,000 births, with the condition
having a slight predilection for girls
• Hydrocephalus is not present at birth; it appears by 3
months of age
TREATMENT OF
HYDROCEPHALUS
• Correction of hydrocephalus involves cystoperitoneal,
ventriculoperitoneal, or both kinds of shunts
• Cystoperitoneal shunting, because it avoids the risk of an
entrapped fourth ventricle, is considered by many to be the
best procedure for this condition.

✓ Other conditions that frequently obstruct fourth ventricular

outflow are space-occupying lesions, particularly those
involving the posterior fossa
Absorptive Block within the
Subarachnoid Space


• Of all childhood hydrocephalus, 30% are communicating.

• After the CSF passes through the exit foramina of the fourth
ventricle, it normally traverses the basal cisterns around the
brainstem and midbrain on the way to the cortical
subarachnoid compartment and is absorbed through the
arachnoid villi.
• Meningeal scarring can result from subarachnoid
hemorrhage or bacterial meningitis.
•When this scarring occludes the exits from the cisterns or
involves the arachnoid villi, the CSF circulation is impeded.
Normal-Pressure Hydrocephalus
(Hakim Syndrome)
• Indolently progressive hydrocephalus in which CSF pressure is
within the physiologic range but in which a marked increase in
CSF pulse pressure results in slow ventricular expansion and
progressive white matter damage
•The pathogenesis of NPH, as it is seen in the elderly,
undoubtedly differs from that in infants and children, in whom
the most common cause is communicating hydrocephalus with
incomplete arachnoidal obstruction to CSF drainage.
•Primary events include neonatal intraventricular hemorrhage,
spontaneous subarachnoid hemorrhage, intracranial trauma,
infections, and surgery.
• The clinical presentation in childhood resembles that seen in
adult life->psychomotor retardation, psychotic-like behavior, gait
abnormalities, and sphincter disturbances
Arrested (Compensated)
Hydrocephalus
• Occurs when CSF formation and absorption are in balance and
no more CSF accumulates.
•Milhorat defined arrested hydrocephalus as the surgical or
spontaneous termination of a hydrocephalic condition, with
subsequent return to normal of the pressure gradient across the
cerebral mantle.
• Head circumference is usually near or above the 97th percentile
• Neuroimaging studies, the ventricles are moderately to
markedly dilated. The larger the ventricles, the less likely it is that
ventricular size will further increase.
• On evaluation, these children tend to be clumsy and
uncoordinated, with verbal IQ better than performance IQ. Tone
and deep tendon reflexes are often increased, and optic atrophy,
papilledema, and visual field defects can be present.
Clinical Manifestations


•Four major factors influence the clinical course in

hydrocephalus:
• the time of onset,
• the duration of increased intracranial pressure,
• the rate at which intracranial pressure increases, and
• any preexisting structural lesions.
Clinical Manifestations


• The time when hydrocephalus develops in relation to

closure of the cranial sutures determines whether
enlargement of the head is the presenting sign.
• Before 2 years of age, progressive enlargement of the head
is almost invariably a presenting complaint.
• When hydrocephalus develops after 2 years of age, any
changes in head circumference are overshadowed by other
neurologic manifestations.
Neonatal Period through Infancy (0 to
2 Years)


• Hydrocephalus during this time is usually caused by a major

defect in embryogenesis.
• Chiari malformations with or without spina bifida cystica,
aqueductal stenosis, and aqueductal gliosis account for 80%
of all hydrocephalus in this period and represent 60% of all
hydrocephalus regardless of age
• The remainder of cases are a consequence of intrauterine
infection, anoxic or traumatic perinatal hemorrhage, and
neonatal bacterial or viral meningoencephalitis.
Neonatal Period through
Infancy (0 to 2 Years)
• The head grows at an abnormal rate and is macrocephalic
within 12 months, if not at birth.
• The forehead is disproportionately large, giving an inverted
triangular appearance to the head. The skull is thin, hair can
be sparse, and the sutures are excessively separated. This
results in an accentuated cracked-pot sound on percussion of
the skull. The anterior fontanelle is tense and the scalp veins
are dilated
• A divergent strabismus with the eyeballs rotated downward
is often noted ->”setting-sun sign” is caused by pressure of
the third ventricle's suprapineal recess on the mesencephalic
tectum, causing impairment of the vertical gaze centers.
Early to Late Childhood (2 to
10 Years)

• In this age group, neurologic symptoms caused by
increased intracranial pressure or by focal deficits referable
to the primary lesion tend to appear before any significant
changes in head size.
•The most common causes for hydrocephalus during this
period of life are posterior fossa neoplasms and obstructions
at the aqueduct
Early to Late Childhood (2 to
10 Years)
• The infections most likely to cause hydrocephalus are
tuberculosis and fungal or parasitic infections.
• Hydrocephalus resulting from any one of these agents has
its special features; however, in almost all instances,
increased intracranial pressure produces papilledema,
strabismus, and headache on awakening in the morning that
improves after emesis or upright posture.
Diagnosis


• In infants, the initial diagnosis of hydrocephalus is based on

a head circumference that, regardless of absolute size,
crosses one or more grid lines
•Such infants require prompt diagnostic evaluation, even when overt
neurologic signs are absent.
• Ultrasonography has proven to be invaluable in monitoring
the ventricular system in infants with hydrocephalus
• Although in the past CT scans have proven of value in the
diagnostic evaluation of the infant or child with
hydrocephalus, MRI is the preferred procedure.
Treatment


• The general principles of treatment are surgical correction of

CSF obstruction, reduction of CSF production by drugs or
surgical therapy
•Children older than 3 years of age with stable ventricular size be
monitored if their intellectual performance is within the normal range and
appears stable.
•Children younger than 3 years of age with large ventricles should be
shunted if doubt exists, because the outcome of nontreatment is
uncertain.
Treatment
• Ventriculomegaly after meningitis or in conjunction with
spina bifida cystica does not require a shunting procedure
unless serial imaging studies demonstrate it to be
progressive.
• Once progression has become evident, failure to treat can
result in further compromise of both cognitive function and
fine and gross motor coordination.
• The underlying cause of hydrocephalus and serial
developmental examinations can provide clues to the ultimate
prognosis and contribute to the criteria for the decision to
perform surgery
Prognosis

• Based on studies of the natural course of untreated and
spontaneously arrested hydrocephalus , it is clear that
surgery reduces mortality and limits morbidity.
• Untreated, hydrocephalus has a 50% mortality.
• In one study, 50% of the survivors were exhibited mental
retardation in the illiterate range or worse, and fewer than 10%
were intellectually normal. More than two-thirds of survivors
had major physical handicaps
Hydranencephaly

Pathology
• The greater portions of both the cerebral hemispheres and
the corpus striatum are reduced to membranous sacs
composed of glial tissue covered by intact meninges and
encompassing a cavity filled with clear CSF.
• A type of hydrocephalus that has run its course in utero.
• In other instances, hydranencephaly can be the
consequence of intrauterine infections or other gestational
insults
Clinical Manifestations

• Infants appear healthy at birth or have a somewhat large
head that enlarges progressively.
• Spontaneous and reflex activity is often normal.
• However, failure in the development of cerebrocortical
inhibition results in the persistence and exaggeration of
reflexes, which becomes apparent by the second or third
postnatal week.
Clinical Manifestations

• Over the subsequent weeks, hyper-reflexia, hypertonia,
quadriparesis, and decerebration develop, together with
irritability, infantile spasms, and dysconjugate extraocular
movements.
• Generalized or minor motor seizures also become apparent.
• EEG can be normal at first, but later becomes abnormal.
Diagnosis


• In an infant with an enlarged head or abnormally

accelerating head growth, ultrasonography is mandatory to
exclude severe hydrocephalus and expanding bilateral
porencephalic cysts under increased pressure.
• Most infants with hydranencephaly do not survive beyond
the second year of life; they succumb to intercurrent
infections or to an unexplained deficit of vital function.

Treatment
•No treatment is available for hydranencephaly.
QUIZ
1-6. Enumerate the 6 stages
of Brain Development
QUIZ
MATCHING TYPE: Match the Malformation in
Column A with the Stage of Development in
Column B
COLUMN A COLUMN B
7. Schizencephaly a. Neurulation
8. Band Heterotopia b. Prosencephalic
9. Myelomeningocoele c. Proliferation
10. Hydrocephalus d. Migration