Central nervous system injury in utero: selected entities

Abstract

This report discusses the syndrome of amnionic bands, anencephaly, schizencephaly and hydranencephaly, four entities whose pathogenesis includes significant injury to the fetus in utero.

Schizencephaly revisited

“…In spite of using best quality imaging, a cleft can still be overlooked and a dimple or ‘nipple’ on the ventricular surface may be the only indicator of trans-mantle abnormality on MR imaging. I have noted another definition of schizencepahly that does not require a cleft to be present [ 10 – 12 ], and recent editions of Barkovich and Raybaud’s textbook acknowledge ‘…transmantle heterotopia may be an extreme closed lip schizencephaly’ [ 8 ]. Those differences in definition of schizencephaly can cause confusion when attempting to sub-classify types of schizencephaly, hence my attempt to produce the unifying system shown in Fig.…”

“…In contrast, the definition of schizencephaly recently put forward by Naidich et al includes a trans-mantle column of dysplastic grey matter extending from the ependyma to the pia without a CSF cleft [10]. Those authors reference supportive evidence from the publications of Yakovlev and Wadsworth [11, 12] and specimens housed in the Yakovlev-Haalem collection at the Armed Forces Institute of Pathology, Washington, DC.…”

“…There is a range of opinion about the definition of schizencephaly; specifically, some authorities consider a CSF-containing cleft running from the pial to the ependymal surfaces to be the sine qua non of schizencephaly [ 7 – 9 ]. In contrast, the definition of schizencephaly recently put forward by Naidich et al includes a trans-mantle column of dysplastic grey matter extending from the ependyma to the pia without a CSF cleft [ 10 ]. Those authors reference supportive evidence from the publications of Yakovlev and Wadsworth [ 11 , 12 ] and specimens housed in the Yakovlev-Haalem collection at the Armed Forces Institute of Pathology, Washington, DC.…”

Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course

“…Septo-optic dysplasia refers to a heterogeneous group of disorders that invariably include optic nerve and/or optic chiasma hypoplasia, accompanied by either the absence or dysgenesis of the septum pellucidum [4] , [5] , [6] , as well as hypothalamic-pituitary insufficiency. SOD-Plus, which exhibits the classic triad of findings in addition to other evidence of cortical malformation, is currently believed to primarily be a genetic disorder that affects multiple stages of cortical development, as opposed to being caused by an acquired etiology — like infection, infarction or hemorrhage — often implicated in isolated SOD [32] , [33] , [34] or schizencephaly alone [35] , [36] , [37] . Indeed, only a small percentage of isolated SOD cases are believed to have a predominantly genetic basis [35] , [38] .…”

Findings and differential diagnosis of fetal intracranial haemorrhage and fetal ischaemic brain injury: what is the role of fetal MRI?

“…MRI shows complete destruction of the brain parenchyma perfused by the carotid arteries (Figures 9 and 10). 54,55 Schizencephaly is an abnormal cleft within the brain parenchyma lined with grey matter. The cleft can be closed or open; only open lip schizencephaly has been detected with confidence on fetal imaging.…”