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Schizencephaly

Schizencephaly is a type of Cephalic disorder. This is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly is a form of porencephaly. more...

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Individuals with clefts in both hemispheres, or bilateral clefts, are often developmentally delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in one hemisphere) may be weak on one side of the body and may have average or near-average intelligence. Patients with schizencephaly may also have varying degrees of microcephaly, mental retardation, hemiparesis (weakness or paralysis affecting one side of the body), or quadriparesis (weakness or paralysis affecting all four extremities), and may have reduced muscle tone (hypotonia). Most patients have seizures and some may have hydrocephalus.

In schizencephaly, the neurons border the edge of the cleft implying a very early disruption in development. There is now a genetic origin for one type of schizencephaly. Causes of this type may include environmental exposures during pregnancy such as medication taken by the mother, exposure to toxins, or a vascular insult. Often there are associated heterotopias (isolated islands of neurons) which indicate a failure of migration of the neurons to their final position in the brain.

Treatment for individuals with schizencephaly generally consists of physical therapy, treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt.

The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the degree of neurological deficit.

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A complement to ultrasound: MRI helps spot fetal CNS problems
From OB/GYN News, 8/15/04 by Doug Brunk

PHOENIX, ARIZ. -- Clinicians "can learn a lot" by using magnetic resonance imaging in conjunction with ultrasound to diagnose central nervous system abnormalities, Dr. Deborah Levine said at the annual meeting of the American Institute of Ultrasound in Medicine.

MRI can offer additional information concerning anatomical details that are important for counseling patients, said Dr. Levine, director of obstetric and gynecologic ultrasound in the department of radiology at Beth Israel Deaconess Medical Center, Boston.

For example, in a case of ventriculomegaly, MRI can help clinicians examine regions of porencephaly. But Dr. Levine was quick to point out that clinicians should be cautious in counseling patients about what MRI might be showing. "We don't know the natural history of all of these abnormalities," she said. "Although we will tell patients that we'd rather not have porencephaly, we can't tell them what it means when there's a focal area of porencephaly [other than] that the prognosis will be worse than if we hadn't seen it."

She discussed the case of a 26-week-old fetus with a large arachnoid cyst that was referred to her clinic to check for possible schizencephaly. Ultrasound showed "what looked like a very large cyst pushing the ventricles [in the brain] aside," she said. MRI revealed that the arachnoid cyst went across the midline of the brain and elevated both cerebral hemispheres, "but it clearly did not communicate with the ventricles."

A sagittal view on MRI showed a "mass effect" that the cyst was having on the pons and the midbrain. "But the question is, what do you do with that information?" Dr. Levine asked. "For this fetus, we counseled the patients that we were concerned about how the baby would do at birth. Would it be able to breathe? Would it be able to feed normally because of all this mass effect?"

She and her associates took follow-up MRI images of the child's head at 4 and 12 months of age. The arachnoid cyst stayed the same size; the child never needed surgery and was asymptomatic.

She added that using MRI has helped her to identify intratentorial hematomas that had previously been misdiagnosed as arachnoid cysts based on ultrasound exams alone. The key diagnostic difference between the two is that "arachnoid cysts hug the brain and intratentorial hematomas hug the bone," Dr. Levine said.

BY DOUG BRUNK

San Diego Bureau

COPYRIGHT 2004 International Medical News Group
COPYRIGHT 2004 Gale Group

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