Year: 2012
Type: article
Study design: Case Report
Abstract: We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation.
Source: Brain
DOI: 10.1093/brain/aws162
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funders: Howard Hughes Medical Institute, National Institutes of Health, National Institute on Aging, National Institute of Mental Health, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, National Institute of Biomedical Imaging and Bioengineering, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: Molecular Characterization of Joubert Syndrome, Structural & Metabolic Neuroimaging Biomarkers in Early Alzheimer's Disease, Creating a Pediatric Imaging-Genomics Data Resource, DTI, MRSI, and Volumetry of Cerebellar Injury in Preterm Neonates, Spatiotemporal Brain Imaging: Microscopic and System Level, Mapping Individual Cognitive Differences to Neural Variance and School Readiness, Developmental Mechanisms of Human Structural Brain Defects, Center for the Study of the Neural Bases of Language and Learning, Biomarkers of Autism at 12 months: From Brain Overgrowth to Genes, ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
OpenAlex ID: W2148834510