Complete cerebellar agenesis or aplasia is an extremely rare condition with few previously reported cases. We identified a 38-week gestation infant with microcephaly who had complete cerebellar agenesis associated with arrhinecephaly. There was complete lack of the efferent and afferent limbs of the cerebellum, including the nuclei of the basis pontis, the inferior olivary nuclei, ascending spinal and medullary afferents, deep cerebellar nuclei and their afferents, and the red nucleus. Although complete cerebellar agenesis is rare, cerebellar hypoplasia is more common and can be sporadic, asymmetric, or represent clinically, genetically, and pathologically diverse examples of primary cerebellar or vermian hypoplasia.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Surgical treatment of cerebellar pontine angle lipoma combined with trigeminal neuralgia: A case report.
Medicine (Baltimore)
January 2025
Department of Head and Neck Surgery, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.
Rationale: Cerebellar pontine angle lipomas with trigeminal neuralgia are rare. The treatment choice is influenced by whether the pain is caused by the lipoma or the compression of blood vessels. Herein, we aimed to report a case of the disease and provide a reference for its treatment.
View Article and Find Full Text PDFMedial and lateral vestibulospinal projections to the cervical spinal cord of the squirrel monkey.
Front Neurol
January 2025
Oregon Hearing Research Center, Oregon Health & Science University, Portland, OR, United States.
Introduction: The brainstem vestibular nuclei neurons receive synaptic inputs from inner ear acceleration-sensing hair cells, cerebellar output neurons, and ascending signals from spinal proprioceptive-related neurons. The lateral (LVST) and medial (MVST) vestibulospinal (VS) tracts convey their coded signals to the spinal circuits to rapidly counter externally imposed perturbations to facilitate stability and provide a framework for self-generated head movements.
Methods: The present study describes the morphological characteristics of intraaxonally recorded and labeled VS neurons monosynaptically connected to the 8th nerve.
We use our tongue much like our hands: to interact with objects and transport them. For example, we use our hands to sense properties of objects and transport them in the nearby space, and we use our tongue to sense properties of food morsels and transport them through the oral cavity. But what does the cerebellum contribute to control of tongue movements? Here, we trained head-fixed marmosets to make skillful tongue movements to harvest food from small tubes that were placed at sharp angles to their mouth.
View Article and Find Full Text PDFNeurovisual Training With Acoustic Feedback: An Innovative Approach for Nystagmus Rehabilitation.
Arch Rehabil Res Clin Transl
December 2024
Section of Neurorehabilitation, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Nystagmus has various clinical manifestations, including downbeat, upbeat, and torsional types, each associated with distinct neurologic features. Current rehabilitative interventions focusing on fixation training and optical correction often fail to achieve complete resolution. When nystagmus coexists with fragile X-associated tremor/ataxia syndrome (FXTAS), functional impairments worsen, particularly affecting balance.
View Article and Find Full Text PDFSleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!