Background And Purpose: Cerebellar atrophy is considered the most prominent neuroradiologic finding in Marinesco-Sjögren syndrome (MSS). Our purpose was to investigate this neuroradiologic feature in a series of patients with MSS.
Methods: Five patients with MSS (age range, 5-19 years) underwent native MR imaging of the brain. The findings were assessed with particular attention to the cerebellum and the supratentorial structures.
Results: Only two patients had slight cerebellar atrophy; the cerebellum was normal in size and configuration in the other patients. Additional supratentorial findings were present in some of the patients, with an apparently small anterior pituitary gland in two and the absence of the posterior pituitary bright spot in three of the patients.
Conclusion: Cerebellar atrophy is not an obligatory finding in MSS, and almost normal cranial MR imaging results are compatible with the diagnosis. Morphologic changes of the pituitary gland seem to be common in patients with MSS and are not associated with endocrine dysfunction.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7975805 | PMC |
Publication Analysis
Top Keywords
Similar Publications
Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome).
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
Neuroprotective Effects of VEGF-B in a Murine Model of Aggressive Neuronal Loss with Childhood Onset.
Int J Mol Sci
January 2025
Laboratory of Neuronal Plasticity and Neurorepair, Institute of Neuroscience of Castile and Leon (INCyL), Universidad de Salamanca, 37007 Salamanca, Spain.
In recent decades, the scientific community has faced a major challenge in the search for new therapies that can slow down or alleviate the process of neuronal death that accompanies neurodegenerative diseases. This study aimed to identify an effective therapy using neurotrophic factors to delay the rapid and aggressive cerebellar degeneration experienced by the Purkinje Cell Degeneration (PCD) mouse, a model of childhood-onset neurodegeneration with cerebellar atrophy (CONDCA). Initially, we analyzed the changes in the expression of several neurotrophic factors related to the degenerative process itself, identifying changes in insulin-like growth factor 1 (IGF-1) and Vascular Endothelial Growth Factor B (VEGF-B) in the affected animals.
View Article and Find Full Text PDFAtrophy of cerebellum Crus I indicates poor outcome of cochlear implantation in the elderly.
Sci Rep
January 2025
Department of Otorhinolaryngology, Yonsei University College of Medicine, 50, Yonsei-Ro, Seodaemun-Gu, Seoul, 03722, Republic of Korea.
Cochlear implantation (CI) is a highly effective treatment for profound hearing loss in elderly individuals, including those with ARHL. However, factors influencing the success of CI in the elderly population are not fully understood. Hence, we sought to investigate the association of regional cerebellar gray matter volume with effectiveness of CI in the elderly.
View Article and Find Full Text PDFEffectiveness of Cerebellar Tonsillectomy Treatment for Revision Chiari Malformation Surgery: a series of 63 patients.
World Neurosurg
January 2025
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University; Spine Center, China International Neuroscience Institute (CHINA-INI); Research Center of Spine and Spinal Cord, Beijing Institute of Brain Disorders, Capital Medical University; Lab of Spinal Cord Injury and Functional Reconstruction, China International Neuroscience Institute (CHINA-INI); National Center for Neurological Disorders, Beijing, CHINA. Electronic address:
Background: Revision surgery for patients with persistent, recurrent, or progressive syringomyelia following foramen magnum decompression (FMD) for Chiari malformation I-syringomyelia (CM-SM) is not uncommon and presents both strategic and technical challenges.
Methods: We conducted a retrospective study including all patients who underwent revision Cerebellar Tonsillectomy (CTL) for CM-SM between 2003 and 2023. Additionally, we performed uni- and multivariate analyses to identify possible factors contributing to failed CTL outcomes.
Repeated transcranial magnetic stimulation on the bilateral cerebellum to improve symptoms of ataxia with multiple system atrophy: a prospective, randomized, sham-controlled pilot study.
Neurol Sci
January 2025
Department of Neurology, Baotou Central Hospital, Baotou, Inner Mongolia, China.
Objectives: Ataxia is a common symptom in patients with Cerebellar subtype of Multiple system atrophy (MSA-C), but effective treatments remain elusive. The present study aims to investigate whether repetitive transcranial magnetic stimulation (rTMS) over the bilateral cerebellum could relieve ataxia in patients with MSA-C.
Patients And Methods: This is a single-center, randomized and double-blind trial.
Want 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!