Concurrent occurrence of occipital dysplasia and occipital hypoplasia in two dogs is described in this report. Occipital hypoplasia results in reduced volume of the caudal fossa, leading to overcrowding of the neural structures and, in severe cases, development of syringomyelia. In occipital dysplasia, there is a failure of complete ossification of the supraoccipital bone. When the two conditions occur concurrently, it is possible that syringomyelia may develop more slowly, resulting in presentation with clinical signs in middle to old age. This has implications for screening tests for early detection of syringomyelia, with a view to using the dog for breeding purposes, as dogs with an apparently mild phenotype for occipital hypoplasia/syringomyelia may actually have a more severe genotype.
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http://dx.doi.org/10.1111/j.1748-5827.2006.00048.x | DOI Listing |
Neuroimage Rep
December 2024
Department of Pediatrics, Division of Developmental-Behavioral Pediatrics, Stanford University, Stanford, CA, USA.
Background: Severe neonatal inflammatory conditions in very preterm infants (VPT: <32 weeks gestational age, GA) are linked to adverse neurodevelopmental outcomes. Differences in white matter (WM) microstructure of the corpus callosum (CC) have been observed at age 6 in VPT children with a history of severe neonatal inflammation. The goal of this study was to determine whether these CC differences can be detected at term-equivalent age using diffusion MRI (dMRI), and whether neonatal inflammation is associated with altered WM in additional tracts implicated in the encephalopathy of prematurity.
View Article and Find Full Text PDFJ Child Psychol Psychiatry
November 2024
Department of Radiology, Haukeland University Hospital, Bergen, Norway.
Background: Fifteen million infants annually are born prematurely, placing them at high risk for life-long adverse neurodevelopmental outcomes. Whether brain tissue abnormalities that accompany preterm birth persist into young adulthood and are associated with long-term cognitive or psychiatric outcomes is not known.
Methods: From infancy into young adulthood, we followed a population-based sample of consecutively identified preterm infants and their matched term controls.
J Craniovertebr Junction Spine
September 2024
Department of Neurosurgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Fibrous dysplasia (FD) is a rare skeletal disorder characterized by the replacement of normal bone with fibrous connective tissue, leading to abnormal bone formation. This case report details the successful treatment of a 61-year-old woman with FD at the craniovertebral junction (CVJ). The patient, who had a history of intracranial meningioma and had already been diagnosed with FD, experienced worsening gait disturbance and muscle weakness following a fall.
View Article and Find Full Text PDFGenes (Basel)
October 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Background/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic variants in the gene. Diagnosing KS can be challenging due to its clinical heterogeneity and the rarity of the syndrome.
View Article and Find Full Text PDFEur J Med Res
October 2024
Department of Pathology, Guangdong Sanjiu Brain Hospital, Guangzhou, China.
Purpose: Accurate detection and resection of the epileptogenic zone (EZ) in patients with long-term epilepsy-associated tumors (LEATs) are significantly correlated with favorable seizure prognosis. However, the relationship between tumors and the EZ remains unknown. This study aimed to evaluate the spatial relationship between LEATs and the EZ, as well as the electrophysiological features of LEATs.
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