Intracranial

Malformations of neuronal migration such as lissencephaly (agyria-pachygyria spectrum) are well-known causes of mental retardation and epilepsy that are often genetic. For example, isolated lissencephaly sequence and Miller-Dieker syndrome are caused by deletions involving a lissencephaly gene in chromosome 17p13.3, while many other malformation syndromes have autosomal recessive inheritance. In this paper, we review evidence supporting the existence of two distinct X-linked malformations of neuronal migration. X-linked lissencephaly and subcortical band heterotopia (XLIS) presents with sporadic or familial mental retardation and epilepsy. The brain malformation varies from classical lissencephaly, which is observed in males, to subcortical band heterotopia, which is observed primarily in females. The XLIS gene is located in chromosome Xq22.3 based on the breakpoint of an X-autosomal translocation. Bilateral periventricular nodular heterotopia (BPNH) usually presents with sporadic or familial epilepsy with normal intelligence, primarily in females, although we have evaluated two boys with BPNH and severe mental retardation. The gene for BPNH has been mapped to chromosome Xq28 based on linkage studies in multiplex families and observation of a subtle structural abnormality in one of the boys with BPNH and severe mental retardation.

It is often possible to predict the gene mutation from careful review of brain imaging studies.

Although computed tomography (CT) remains the most frequently used imaging examination in acute cerebral infarction, its sensitivity for early detection of strokes remains limited. In middle cerebral artery (MCA) strokes less than 6 hours old, loss of definition of the gray-white interface in the lateral margins of the insula ("insular ribbon") was observed. The acute and subacute CT findings in 11 retrospective and 16 prospective patients are presented. Loss of the insular ribbon was detected in 12 of the prospective cases and in all 11 retrospective cases. The insular ribbon is supplied by the insular segment of the MCA and its claustral branches. With cessation of MCA flow, the insular ribbon becomes the region most distal from the anterior and posterior cerebral collateral circulations. Consequently, the insular ribbon effectively becomes a watershed arterial zone. Loss of the insular ribbon is thus a reflection of acute edema due to infarction. Loss of the insular ribbon appears to be another frequent and reliable finding in acute MCA stroke.