Two new cases of Walker's lissencephaly are reported. In this disease first described by Walker in 1942 important cerebral malformations and various ocular anomalies are associated. The main cerebral malformations consist of hydrocephalus and agyria, and the ocular anomalies concern the anterior segment as well as the retina which is frequently dysplastic. The originality of our cases is due to the retina which was not dysplastic but showed particular modifications which are discussed. Moreover, in the second case the cerebral cortex was rather microgyric. The aspect of the ocular lesions and of some of the cerebro-meningeal findings bring the authors to discuss the autosomal recessive inheritance proposed by some neuropathologists; these aspects can suggest a possible foetopathy.
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Surg Radiol Anat
January 2025
Department of Neurosurgery, Saitama Sekishinkai Hospital, 2-37-20 Irumagawa, Sayama, Saitama, 350-1305, Japan.
Purpose: To describe a case of short common trunk of the occipital artery (OA) and ascending pharyngeal artery (APA) arising from the internal carotid artery (ICA).
Methods: A 36-year-old woman with a history of surgical resection of a right lateral ventricular meningioma and atheromatous plaque of the right ICA underwent cranial magnetic resonance (MR) imaging and MR angiography of the head and neck region with a 3-Tesla scanner.
Results: MR angiography of the neck region showed a small atheromatous plaque at the origin of the right ICA and an anomalous artery arising from the posteromedial aspect of the right ICA at the distal end of the carotid bulb.
Brain
January 2025
Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA.
Although the pathophysiology of migraine involves a complex ensemble of peripheral and central nervous system changes that remain incompletely understood, the activation and sensitization of the trigeminovascular system is believed to play a major role. However, non-invasive, in vivo neuroimaging studies investigating the underlying neural mechanisms of trigeminal system abnormalities in human migraine patients are limited. Here, we studied 60 patients with migraine (55 females, mean age ± SD: 36.
View Article and Find Full Text PDFPsychoradiology
January 2025
Department of Psychiatry, Xijing Hospital, Fourth Military Military Medical University, Xi'an 710032, China.
J Cell Sci
January 2025
Program in Molecular Medicine, University of Massachusetts Chan Medical School, Suite 213 Biotech II, 373 Plantation Street, Worcester MA 01605, USA.
In humans, inositol polyphosphate-5-phosphatase e (INPP5E) mutations cause retinal degeneration as part of Joubert and MORM syndromes and can also cause non-syndromic blindness. In mice, mutations cause a spectrum of brain, kidney, and other anomalies and prevent the formation of photoreceptor outer segments. To further explore the function of Inpp5e in photoreceptors, we generated conditional and inducible knockouts of mouse Inpp5e where the gene was deleted either during outer segment formation or after outer segments were fully formed.
View Article and Find Full Text PDFJ Transl Med
January 2025
Department of Computer Science, Islamic University of Science and Technology (IUST), Kashmir, 192122, India.
Background: Glioblastoma (GBM) is a highly aggressive brain tumor associated with a poor patient prognosis. The survival rate remains low despite standard therapies, highlighting the urgent need for novel treatment strategies. Advanced imaging techniques, particularly magnetic resonance imaging (MRI), are crucial in assessing GBM.
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