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In this condition, there is an absence of the Cerebral
Hemispheres, is incompatible with life. The absent
Brain is sometimes replaced by malformed cystic neural
tissue, which may be exposed or covered with skin. Varying
portions of the Brain Stem and Spinal Cord may be missing or
malformed. No diagnostic or therapeutic efforts are helpful,
and these newborns either are stillborn or die within days or
The Cerebral Hemispheres may be large, small, or
asymmetric; the gyri may be absent, unusually large, or
multiple and small. In some cases microscopic sections of the
Brain biopsies may show disorganization of the normal laminar neuronal
arrangement in what otherwise appears to be a normal Brain.
Microcephaly (decreased head size) is often associated
with these defects as well as moderate to severe motor
and mental retardation. Anticonvulsants are often needed to control
seizures. Long term supportive efforts are aimed at maximizing
the capabilities of each affected individual.
This condition is identified by a protrusion of nervous tissue
and meninges through a Skull defect, is associated with
incomplete closure of the Cranial Vault ("Cranium Bifidum").
Encephaloceles usually occur in the midline and protrude from
the Occiput or into the nasal passages but can be present
asymmetrically in the Frontal or Parietal regions. Small
Encephaloceles may resemble Cephalhematomas (blood accumulation or
"clot" beneath the scalp in a newborn), but x-rays show a bony skull
defect at their base. Most Encephaloceles should be repaired.
Even large ones sometimes contain mostly heterotopic nervous
tissue, which can be removed without leaving major functional
disability. When other serious malformations coexist, the
decision to repair may be more difficult. The Hydrocephalus often
associated with Encephalocele requires definition by CT or ultrasound
and, if it is progressive, surgical treatment with a shunt. About 50%
of affected infants have other congenital defects. The prognosis is
good for many of these patients.
This is a cyst or cavity in a Cerebral Hemisphere that
communicates with a Ventricle, may occur pre- or post-natally.
The defect may be caused by a developmental anomaly, inflammatory
disease, or a vascular accident, such as intraventricular hemorrhage
with extension into the Brain substance. The neurological examination
is usually abnormal. Diagnosis is confirmed by CT or
ultrasound. Progressive Hydrocephalus may require a shunt
procedure. While prognosis is variable; a few patients develop only
minor neurological signs and have normal intelligence.
This is an extreme form of Porencephaly in which the
Cerebral Hemispheres are almost totally absent. Usually,
the Cerebellum and Brain Stem are formed normally and the
Basal Ganglia are intact. The meninges, bones, and skin
over the Cranial Vault are normal. Results of neonatal neurological
examination are usually abnormal, but findings are subtle. The infant
fails to develop normally. Externally, the head appears normal, but
when transilluminated, light shines completely through. CT or
ultrasound confirms the diagnosis. Treatment is supportive,
with shunting if head growth is excessive.
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This page last edited on 2/19