A framework for in vivo quantification of regional brain folding in premature neonates.

This paper describes and compares novel approaches to in vivo 3D measurement of brain surface folding in clinically acquired neonatal MR image data, which allows regional folding evaluation. Most of the current measures of folding are not independent of the area of the surface they are derived from. Therefore, applying them to whole-brain surfaces or subregions of different sizes results in differences which may or may not reflect true differences in folding. We address this problem by proposing new measures to quantify gyrification and two approaches to normalize previously defined measures. The method was applied to twelve premature infants (age 28-37 weeks) from which cerebrospinal fluid/gray matter and gray matter/white matter interface surfaces were extracted. Experimental results show that previous folding measures are sensitive to the area of the surface of analysis and that the area-independent measures proposed here provide significant improvements. Such a system provides a tool that facilitates the study of structural development in the neonatal brain within specific functional subregions, which may be critical in identifying later neurological impairment.

Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis: part 2.

Fetal MR imaging is an increasingly available technique used to evaluate the fetal brain and spine. This is made possible by recent advances in technology, such as rapid pulse sequences, parallel imaging, and advances in coil design. This provides a unique opportunity to evaluate processes that cannot be approached by any other current imaging technique, and it affords a unique opportunity for studying in vivo brain development and early diagnosis of congenital abnormalities inadequately visualized or undetectable by prenatal sonography. This 2-part review summarizes some of the latest developments in MR imaging of the fetal brain and spine and its application to prenatal diagnosis. The first part discussed the utility, safety, and technical aspects of fetal MR imaging; the appearance of normal fetal brain development; and the role of fetal MR imaging in the evaluation of fetal ventriculomegaly. In this second part, we focus on additional clinical applications of fetal MR imaging, including suspected abnormalities of the corpus callosum, malformations of cortical development, and spine abnormalities.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

OBJECTIVE: To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS). METHODS: Exonic sequencing and single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage analysis using microsatellite markers on the X-chromosome was performed on a single pedigree. Western blotting evaluated for loss of filamin A (FLNA) protein and Southern blotting assessed for any potential chromosome rearrangement in this region. RESULTS: The authors report two familial cases and nine additional sporadic cases of the EDS-variant form of PH, which is characterized by nodular brain heterotopia, joint hypermobility, and development of aortic dilatation in early adulthood. MRI typically demonstrated bilateral nodular PH, indistinguishable from PH due to FLNA mutations. Exonic sequencing or SSCP analyses of FLNA revealed a 2762 delG single base pair deletion in one affected female. Another affected female harbored a C116 single point mutation, resulting in an A39G change. A third affected female had a 4147 delG single base pair deletion. One pedigree with no detectable exonic mutation demonstrated positive linkage to the FLNA locus Xq28, an affected individual in this family also had no detectable FLNA protein, but no chromosomal rearrangement was detected. CONCLUSION: These results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.

A novel approach to high resolution fetal brain MR imaging.

This paper describes a novel approach to forming high resolution MR images of the human fetal brain. It addresses the key problem of motion of the fetus by proposing a registration refined compounding of multiple sets of orthogonal fast 2D MRI slices, that are currently acquired for clinical studies, into a single high resolution MRI volume. A robust multi-resolution slice alignment is applied iteratively to the data to correct motion of the fetus that occurs between 2D acquisitions. This is combined with an intensity correction step and a super resolution reconstruction step, to form a single high isotropic resolution volume of the fetal brain. Experimental validation on synthetic image data with known motion types and underlying anatomy, together with retrospective application to sets of clinical acquisitions are included. Results indicate the method promises a unique route to acquiring high resolution MRI of the fetal brain in vivo allowing comparable quality to that of neonatal MRI. Such data is highly valuable in allowing a clinically applicable window into the process of normal and abnormal brain development.

Visual recovery from hypoxic cortical blindness during childhood. Computed tomographic and magnetic resonance imaging predictors.

We reviewed the clinical courses and computed tomographic (CT) and magnetic resonance imaging (MRI) scans of 30 infants and children with cortical blindness following hypoxic insults. The degree of injury to the striate and parastriate cortices and the area of the optic radiations were graded from 0 to 4 by a neuroradiologist. Only two children had normal scans of the posterior visual pathway and both had favorable visual outcomes. The visual recovery differed significantly with respect to the age at which the hypoxic insult occurred and CT and MRI abnormalities in the area of the optic radiations, but not with abnormalities in the striate or parastriate cortices. Our results suggest that CT and MRI scanning are helpful in prognosticating the visual potential of children with hypoxic cortical blindness.