Although suspected corpus callosum abnormality is a common indication for fetal MR imaging, biometric data specific to MR imaging are sparse. We sought to characterize growth in corpus callosum length by EGA with fetal MR imaging. Corpus callosum segments were assessed and overall corpus callosum length was measured and plotted against the EGA for 68 anatomically normal fetal brains ranging in EGA from 18.5 to 37.7 weeks, and linear and polynomial regression models were calculated. The body of the corpus callosum was identified in all fetuses, followed in frequency by the splenium (91.2%), genu (85.3%), and rostrum (32.4%). Measurements of corpus callosum length by MR imaging were in agreement with values established by sonography. A second-degree polynomial function was the best fit for callosal length by EGA. Understanding this normal growth pattern may enhance detection of subtle growth abnormalities.
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http://dx.doi.org/10.3174/ajnr.A2310 | DOI Listing |
Stroke
January 2025
Neurology and Radiology, Massachusetts General Hospital, UNITED STATES.
Cerebral autosomal-dominant arteriopathy, subcortical infarcts, and leukoencephalopathy (CADASIL) is the most prevalent monogenic inherited cause of cerebral small-vessel disease. Despite its prevalence, there is currently no proven therapy to prevent or reverse the progression of the disease. This study aimed to characterize the functional integrity of long white matter tracts in CADASIL transgenic mice, both with and without focal white matter lesions in the corpus callosum added on, utilizing optical resting-state functional connectivity imaging alongside behavioral examinations.
View Article and Find Full Text PDFRinsho Shinkeigaku
January 2025
Department of Neurology, Gifu Prefectural General Medical Center.
A 49-year-old female presented with the primary complaint of hand tremors. Neurological examination on admission revealed signs of cognitive impairment, bulbar palsy, dystonia, cerebellar ataxia, and pyramidal tract disease. T-weighted brain MRI revealed hyperintense signals in the subcortical white matter, basal ganglia, and cerebellar dentate nucleus, with no atrophy of the brainstem or corpus callosum.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFRiga-Fede disease (RFD) is a rare, benign condition marked by traumatic ulceration on the tongue's ventral side in infants. It arises from friction between the tongue and lower incisors during sucking, potentially worsening into a keratinized lesion if the cause is not addressed. This report details the case of a 1-year-6-month-old male with hydrocephalus, cleft palate, corpus callosum dysgenesis, neuropsychomotor developmental delay, and tracheostomy and gastrostomy needs.
View Article and Find Full Text PDFNMR Biomed
March 2025
Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.
Gliomas are highly heterogeneous and often include a nonenhancing component that is hyperintense on T weighted MRI. This can often not be distinguished from secondary gliosis and surrounding edema. We hypothesized that the extent of these T hyperintense areas can more accurately be determined on high-quality 7 T MRI scans.
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