Diagnosis

Open lip schizencephaly

Findings

As included in Discussion

Discussion

Schizencephaly refers to a type of migrational anomaly in which a cleft a extends from the ependyma of the ventricle to the pial surface. The clefts are lined by gray matter and are filled with cerebrospinal fluid. Open lip schizencephaly refers to clefts where the walls are separated and is associated with a worse prognosis than closed lip schizencephaly in which the walls are in apposition. Patients typically present with intractable seizures and developmental delay. The generally accepted pathogenesis of schizencephaly is via early in-utero vascular insult. Associations include other migrational anomalies, dysgenesis of the corpus callosum and septo-optic dysplasia. Patients with schizencephaly may also have varying degrees of microcephaly (abnormally small head), mental retardation, hemiparesis or quadriparesis (partial or complete paralysis), and reduced muscle tone (hypotonicity). Most patients have seizures. Some may have hydrocephalus.

Treatment for individuals with schizencephaly generally consists of physical therapy, treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt (a surgically implanted tube that diverts fluid from one pathway to another).

Barkovich AJ, Kjos BO. Schizencephaly: correlation of clinical findings with MR characteristics. AJNR, Jan-Feb 1992; 13(1):p85-94.

Klingensmith WC, Cioffi-Ragan DT. Schizencephaly: diagnosis and progression in utero. Radiology, Jun 1986; 159(3):p617-8.