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Neuroradiology Case of the Week
Case 325
Salman Mirza, DO and P-L Westesson, MD, PhD, DDS
Clinical
Presentation: Patient is a 2-day-old male with prenatal diagnosis of schizencephaly.
Imaging Findings: Non-contrast CT and MR demonstrated markedly enlarged bilateral cerebral clefts with communication between the lateral ventricles and subarachnoid spaces. MR shows the clefts to be lined by gray matter. There is severe atrophy of normal brain parenchyma.
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| Figure 1: Non-contrast CT demonstrates markedly enlarged bilateral cerebral clefts which communicate with the ventricles and subarachnoid space. |
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Figure 2A & B: Axial T2 with contrast (A) and axial FLAIR (B) MR images demonstrate large bilateral clefts lined by gray matter.
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Diagnosis: Severe bilateral open lip schizencephaly
Discussion: Schizencephaly, also called agenetic porencephaly, is used to describe gray-matter lined clefts that transverse the entire hemisphere. As with many malformations, schizencephaly results from both congenital and acquired causes. In certain cases in utero transmantle injury during the second trimester may result in schizencephaly. Other cases are familial and may be associated with gene mutations.
Prognosis depends on whether the schizencephaly is unilateral or bilateral. Approximately 60% are unilateral and 40% are bilateral. Further differentiation includes those with closed lips and those with open lips.
Clinical presentation can be variable. Seizures, hemiparesis, and developmental delay are typical. Severity of the clinical symptoms depends on extent of brain involvement. Patients with unilateral clefts can have epilepsy and mild hemiparesis without significant developmental delay. Those with open lip unilateral cleft typically have mild to moderate developmental delay, along with epilepsy and hemiparesis. Bilateral schizencephaly has more significant clinical symptoms. Patients tend to be severely retarded and there is early onset of epilepsy. One third of these patients have optic nerve hypoplasia. Severe motor anomalies can also be present.
Pathology demonstrates the gray matter lining the clefts associated with schizencephaly to be dysplastic with abnormal cortical lamination. The majority of clefts, whether unilateral or bilateral, are located near the pre- and post-central gyri.
Bilateral schizencephalic clefts are symmetric approximately 80% of the time with their location in primarily in the frontal or parietal regions in 60% to 65% of cases. The remaining are seen in the temporal and parietal region. Open bilateral clefts are seen 60% of the time. The remaining are evenly split between bilateral closed clefts and one open cleft with one closed cleft.
Unilateral schizencephaly again occurs 60% of cases. 65% of the clefts are open lip with the remaining closed. 80% of unilateral clefts occur in the mid to posterior frontal and parietal lobes. The remaining are seen in the temporal and occipital regions.
References:
- Barkovich JA. Pediatric Neuroimaging, 4th Ed. Philadelphia: Lippincott Williams & Wilkins, 2005: 335-337.
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