Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.
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http://dx.doi.org/10.1002/uog.12567 | DOI Listing |
The origins of resting-state functional MRI (rsfMRI) signal fluctuations remain debated. Recent evidence shows coupling between global cortical rsfMRI signals and cerebrospinal fluid inflow in the fourth ventricle, increasing during sleep and decreasing with Alzheimer's disease (AD) progression, potentially reflecting brain clearance mechanisms. However, the existence of more complex brain-ventricle coupling modes and their relationship to cognitive decline remains unexplored.
View Article and Find Full Text PDFHeliyon
January 2025
Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia.
Introduction: The area postrema, located on the floor of the fourth ventricle, regulates vomiting, fluid balance, osmoregulation, and immunomodulation. First documented in 1896, it has been a subject of scientific interest ever since. Area postrema syndrome (APS) is characterised by intractable nausea, vomiting, or hiccups, typically associated with neuromyelitis optica spectrum disorder (NMOSD).
View Article and Find Full Text PDFBMC Geriatr
January 2025
Department of Neurosurgery, Xijing Hospital, Fourth Military Medical University, Xi'an, 710032, China.
Background: This particular case is a world-first with no previous literature reports on patients presenting with both benign acoustic schwannoma and malignant ependymoma.
Case Presentation: A 60-year-old woman with unexplained right-sided hearing loss that had worsened progressively over 4 years, along with intermittent dizziness that had begun 3 years prior. Our preliminary diagnosis included: (1) Right acoustic neuroma; (2) Ependymoma of the fourth ventricle; and (3) Hydrocephalus.
Introduction Pediatric hemifacial spasm (HFS) is rare, presenting early in infancy, and often fraught with subsequent psychomotor and intellectual deficits. Fourth ventricular hamartoma (FVH) is a rare cause of HFS with only 5 cases reported in literature. While Gamma-knife radiosurgery (GKRS) has been used to treat hypothalamic hamartomas, this is the first case of FVH treated with primary GKRS.
View Article and Find Full Text PDFObjective: Ependymomas, rare neuroglial tumors originating from ependymal cells, can occur in the CNS and typically affect the brain's ventricles or spinal cord. Prognosis is influenced by tumor grade, location, resection extent, and preoperative Karnofsky Performance Status Scale (KPSS) scores. This study evaluates clinical features, treatment outcomes, and factors affecting prognosis in patients with intracranial ependymomas.
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