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An intracranial odyssey: pediatric ganglioneuroma arising from the trigeminal ganglion: a case report and review of the literature.
J Med Case Rep
December 2024
Research Committee Member, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Ganglioneuroma is a rare benign tumor that can originate from the sympathetic nerves, and this case describes the second instance of such a tumor arising from the fifth cranial nerve in a pediatric patient.
- A 7-year-old boy presented with left-sided facial symptoms and seizures, and imaging revealed a significant lesion near the fifth nerve, which was confirmed to be a ganglioneuroma through histopathological analysis.
- Surgical removal of the tumor was performed successfully using a specific approach, highlighting the importance of considering ganglioneuroma in similar clinical scenarios involving lesions in the brain's Meckel's cave area.
Hypophysitis and central nervous system involvement in association with Sjögren's syndrome along with hypoparathyroidism: a case report.
BMC Neurol
September 2024
Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Article Synopsis
- * The patient experienced various symptoms such as seizures, vomiting, and blurred vision, and was diagnosed with conditions like hypophysitis and hypoparathyroidism, ultimately recovering after corticosteroid treatment.
- * The case emphasizes the importance of long-term monitoring for patients with autoimmune diseases, as they can develop multiple conditions simultaneously, requiring ongoing treatment and care.
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
Int J Mol Sci
March 2024
Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 16-year-old boy harbouring a novel mutation who presented neuroradiological features suggestive of enhanced type I interferon signalling. We describe five years of follow-up and review the current literature on -related leukoencephalopathy.
View Article and Find Full Text PDFThe clinical and genetic spectrum of primary familial brain calcification.
J Neurol
June 2023
Department of Neuroscience, University of Padua, Via Niccolò Giustiniani, 5, 35128, Padua, Italy.
Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood-brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration. Seven causative genes have been discovered so far, of which four with dominant (SLC20A2, PDGFB, PDGFRB, XPR1) and three with recessive inheritance (MYORG, JAM2, CMPK2).
View Article and Find Full Text PDFA case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic variants.
Radiol Case Rep
March 2023
Division of Child Neurology, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Article Synopsis
- Leukoencephalopathy with calcifications and cysts is a rare genetic disorder that leads to brain issues, including calcifications, white matter disease, and cysts, and its progression varies among patients.
- A case study of a 3-month-old girl highlighted the disorder's rapid progression, marked by seizures and significant brain abnormalities detected through CT and MRI scans, ultimately leading to severe developmental delays by age 4.
- The case underscores that conventional whole-exome sequencing might not identify all variants, suggesting that careful neuroimaging is critical for diagnosis and understanding the disease's clinical features.
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