Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images

Neuroradiology. 2002 May;44(5):418-27. doi: 10.1007/s00234-001-0719-1. Epub 2002 Feb 16.

Abstract

Although they are well documented in autopsy series, the macroscopic features and associated anomalies of schizencephalies have not been described in detail in a large clinical population. To assess the macroscopic findings of schizencephaly and the prevalence of associated findings, we conducted a retrospective MR analysis of a group of patients with schizencephaly. The MR studies of 35 patients with schizencephaly were retrospectively reviewed. The images were examined for the location and size of the schizencephalic cleft, the presence and location of associated polymicrogyria, and the presence, location, and severity of other brain anomalies. A total of 54 schizencephalic clefts were seen in the 35 patients. These clefts were unilateral in 18 (51%) patients and bilateral in 17 (49%) patients; three clefts were identified in two patients. Nine clefts (17%) had fused lips and 45 had separated-lip clefts (83%). Polymicrogyria was present inside 23 clefts (43%), while subependymal heterotopias were present at the cleft orifice in 27 clefts (50%). Polymicrogyria was identified outside the cleft, both adjacent to and remote from the cleft, in 23 patients (66%). Abnormal cerebral white-matter signal intensity was present in seven patients (20%), while white-matter volume diminution was noted in all patients. Ventricular diverticula with mass effect, roofing membranes, remnant floors, and cord-like remnants were present in 12, 1, 11, and 3 patients, respectively. Our results show that the spectrum of macroscopic findings in schizencephaly includes fused-lip and separated-lip clefts, polymicrogyric and non-polymicrogyric cleft linings, cyst-like diverticula and membranous structures, and subependymal heterotopia at the cleft. Concomitant anomalies are polymicrogyria outside the cleft, white-matter diminution, septal and optic pathway anomalies, callosal anomalies and hippocampal anomalies. Unilateral and bilateral clefts occur in a nearly equal frequency in the clinical population, in contrast to the high incidence of bilateral schizencephaly reported in the pathological literature.

MeSH terms

  • Adolescent
  • Adult
  • Brain / abnormalities*
  • Brain / pathology*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging*
  • Male
  • Retrospective Studies