Charles Raybaud

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission†

Purpose:u2002 Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex and are very frequently associated with epilepsy in both children and adults. A broad spectrum of histopathology has been included in the diagnosis of FCD. An ILAE task force proposes an international consensus classification system to better characterize specific clinicopathological FCD entities.

The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation

There are three telencephalic commissures which are paleocortical (the anterior commissure), archicortical (the hippocampal commissure), and neocortical. In non-placental mammals, the neocortical commissural fibers cross the midline together with the anterior and possibly the hippocampal commissure, across the lamina reuniens (joining plate) in the upper part of the lamina terminalis. In placental mammals, a phylogenetically new feature emerged, which is the corpus callosum: it results from an interhemispheric fusion line with specialized groups of mildline glial cells channeling the commissural axons through the interhemispheric meninges toward the contralateral hemispheres. This concerns the frontal lobe mainly however: commissural fibers from the temporo-occipital neocortex still use the anterior commissure to cross, and the posterior occipito-parietal fibers use the hippocampal commissure, forming the splenium in the process. The anterior callosum and the splenium fuse secondarily to form the complete commissural plate. Given the complexity of the processes involved, commissural ageneses are many and usually associated with other diverse defects. They may be due to a failure of the white matter to develop or to the commissural neurons to form or to migrate, to a global failure of the midline crossing processes or to a selective failure of commissuration affecting specific commissural sites (anterior or hippocampal commissures, anterior callosum), or specific sets of commissural axons (paleocortical, hippocampal, neocortical commissural axons). Severe hemispheric dysplasia may prevent the axons from reaching the midline on one or both sides. Besides the intrinsically neural defects, midline meningeal factors may prevent the commissuration as well (interhemispheric cysts or lipoma). As a consequence, commissural agenesis is a malformative feature, not a malformation by itself. Good knowledge of the modern embryological data may allow for a good understanding of a specific pattern in a given individual patient, paving the way for better clinical correlation and genetic counseling.

In Vivo Mri of Fetal Brain Cellular Migration

The multilayered pattern of the brain parenchyma corresponding to the cellular migrational process is demonstrated in the in vivo MR study of a 23-week-old fetus.

In vivo MRI of the fetal brain

We report MRI of the brain in 45 fetuses; the findings were confirmed by pathological examination or postnatal neuroradiological studies. MRI necessitates medication to eliminate fetal motion; curare was injected into the umbilical cord, and MRI is therefore limited to cases in which umbilical cord puncture is indicated. T1-weighted images were obtained in axial, sagittal and coronal planes; the last of these was generally as the most useful as regards morphology. We demonstrated cerebral malformations (n=13), brain haemorrhage (n=1), a facial angioma (n=1), a facial mass (n=1), hydrocephalus (n=5), unilateral ventricular enlargement (n=1), atrophy (n=4), a porencephalic cyst (n=1) and normal appearances of the brain in 18 cases. Twenty-two of the fetuses were born alive, and the clinical and/or neuroradiological examination confirmed the antenatal findings. The diagnosis was also confirmed in 8 cases in which a neuropathological examination was possible.

Corpus callosotomy in children and the disconnection syndromes: a review

ObjectsDisconnection syndromes following corpus callosotomy represent complex and variably expressed groupings of signs and symptoms affecting motor control, spatial orientation, vision, hearing, and language. Little is known, however, about the functional topography of callosal fiber pathways. In addition, most published case reports and case series of corpus callosotomy seldom report neurological deficits. We sought to categorize these deficits based on surgical anatomy.MethodsWe comprehensively reviewed the literature and described, compiled, and tabulated the most common disconnection syndromes complicating corpus callosotomy. We depict the topography of the cerebral cortex and associated commissural fibers of the corpus callosum through illustrations and diffusion tensor imaging tractography.ConclusionsAnatomical classification of disconnection syndromes will provide great value to neurosurgeons embarking on callosotomy, whether partial or complete. Such information will apply to procedures performed for epilepsy and to procedures where the corpus callosum is sectioned for access to lesions within the ventricular system.

Diffusion tensor imaging and fiber tractography in brain malformations

Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and quantitative information about the micro-architecture of white matter. DTI and its post-processing tool fiber tractography (FT) have been increasingly used in the last decade to investigate the microstructural neuroarchitecture of brain malformations. This article aims to review the use of DTI and FT in the evaluation of a variety of common, well-described brain malformations, in particular by pointing out the additional information that DTI and FT renders compared with conventional MR sequences. In addition, the relevant existing literature is summarized.

Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related Disorders

Joubert syndrome is a rare autosomal recessive disorder characterized by ataxia, developmental delay, and oculomotor and respiratory abnormalities in relation to cerebellar vermian and midbrain dysgenesis. The midbrain dysgenesis is responsible for the molar tooth sign on axial magnetic resonance imaging (MRI). This classic hallmark of Joubert syndrome has been identified in other disorders sharing overlapping clinical and radiologic features with Joubert syndrome. Recent identification of two different genes points to genetic heterogeneity in this group of disorders, now entitled Joubert syndrome and related disorders, making a genetic prenatal diagnosis not readily available. In addition, fetal ultrasonography lacks sensitivity in regard to posterior fossa malformation. Fetal MRI is now acknowledged as the method of choice to delineate posterior fossa malformation in a fetus. The identification of a molar tooth sign has, however, rarely been documented by a fetal brain MRI. We report a case of Joubert syndrome diagnosed prenatally using fetal MRI. We also discuss the etiology of Joubert syndrome in view of the recent genetic advances and murine models of cerebellar dysgenesis. (J Child Neurol 2006;21:320—324; DOI 10.2310/7010.2006.00075).

Prenatal diagnosis of fetal cerebral abnormalities by ultrasonography and magnetic resonance imaging

We found magnetic resonance imaging (MRI) of the fetal brain to be effective in confirming or denying diagnosis of fetal cerebral defects when ultrasonography was inconclusive or incomplete. In this paper we describe 31 cases in which ultrasonographic evidence of fetal brain defects was verified by MRI. MRI was performed after curarization of the fetus. In 21 cases, ultrasonographic evidence was confirmed by histological study of the fetus or postnatal radiological examination. In 10 cases, ultrasonographic diagnosis was denied by MRI and healthy infants were born. In one case of cerebral toxoplasmosis, ultrasonography detected periventricular calcifications but MRI was normal. In 20 cases MRI ascertained or further documented the ultrasonographic findings. However in 4 of these 20 cases autopsy of the fetus was required to determine the exact nature of the lesion.

Congenital spine and spinal cord malformations--pictorial review.

Congenital abnormalities of the spine and spinal cord are referred to as spinal dysraphisms. This article reviews normal embryological development of the spine and spinal cord and the imaging findings of congenital abnormalities of the spine and spinal cord with particular focus on MRI.

Diffusion Tensor Imaging of Commissural and Projection White Matter in Tuberous Sclerosis Complex and Correlation with Tuber Load

BACKGROUND AND PURPOSE: Cortical and white matter changes have been identified outside the MR imaging–visible cortical/subcortical tubers in the tuberous sclerosis complex. The aim of this study was to evaluate DTI changes in the corpus callosum and internal capsules and to correlate the DTI changes with cortical/subcortical tuber load. MATERIALS AND METHODS: Twelve TSC patients and 23 controls underwent MR imaging including DTI. FA, trace, D‖, and D⫠ of genu and splenium of corpus callosum and right and left internal capsules were assessed. The number and volume of cortical/subcortical tubers were correlated with DTI indices of corpus callosum and internal capsules. RESULTS: In the genu and splenium, FA was lower and trace (P < .01) and D⫠ were higher (P < .01), and in the internal capsules, trace was higher (P = .04) in TSC patients compared with controls. The total tuber volume correlated positively with trace of genu (r = 0.77, P < .01) and splenium (r = 0.69, P = .01) and with D⫠ of splenium (r = 0.68, P = .01), and negatively with FA of splenium (r = −0.60, P = .04) of corpus callosum. The left and right hemispheric tuber volume correlated positively with trace of left (r = 0.56, P = .05) and right (r = 0.67, P = .02) internal capsules. CONCLUSIONS: Our findings of reduced FA, elevated trace, and elevated D⫠ in the corpus callosum and internal capsules may be related to abnormalities in myelin. The correlations between tuber volume and DTI indices in corpus callosum and internal capsules suggested that more extensive malformation as demonstrated by larger tuber load was more likely to be associated with more severe DTI changes in the commissural and projection white matter.