Primary central nervous system lymphoproliferative disorders comprise a heterogenous group of intracranial disease, predominantly of the high-grade non-Hodgkin's lymphoma type. We report a 56-year-old woman who developed new-onset grand mal seizures and was found to have two small uniformly enhancing dural-based lesions, which were radiologically concerning for meningiomas. Biopsy demonstrated findings consistent with benign, reactive lymphoid tissue. The patient's seizures resolved post-operatively. To our knowledge, this is the first reported patient with intracranial pseudolymphoma presenting as grand mal seizures. This case highlights this rare differential consideration in a patient with symptomatic dural-based lesion.
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http://dx.doi.org/10.1016/j.jocn.2013.06.025 | DOI Listing |
Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme system (GCS), leading to the pathological accumulation of glycine in blood and cerebrospinal fluid (CSF). This case report details a neonate presenting with central apnea, profound hypotonia, and refractory seizures, alongside prenatal findings of polyhydramnios and hiccup-like fetal movements, all strongly suggestive of severe NKH. Diagnostic evaluation confirmed markedly elevated glycine levels in serum and CSF, with a CSF-to-plasma glycine ratio exceeding 0.
View Article and Find Full Text PDFCureus
December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
View Article and Find Full Text PDFIntroduction: COQ4 mutation often leads to a fatal multi-system disease in infants. Recently, it was reported that the biallelic COQ4 variants may be a potential cause of hereditary spastic paraplegia (HSP). This study aims to describe the clinical features and genotype of the COQ4 associated hereditary spastic paraplegia (HSP).
View Article and Find Full Text PDFJ Neuroimmune Pharmacol
January 2025
Pharmacology and Toxicology Department, Faculty of Pharmacy, Mansoura University, Mansoura, 35516, Egypt.
Empagliflozin (EMPA) is one of the sodium/glucose cotransporter 2 (SGLT2) inhibitors that has been recently approved for the treatment of diabetes mellitus type II. Recently, EMPA has shown protective effects in different neurological disorders, besides its antidiabetic activity. Kindling is a relevant model to study epilepsy and neuroplasticity.
View Article and Find Full Text PDFVet Res Commun
January 2025
Department of Veterinary Medicine, University of Perugia, Via San Costanzo, 4, Perugia, 06126, Italy.
This study describes the congenital goiter in an alpaca (Vicugna pacos) fetus aborted in November 2021 with the clinical and pathological findings in the dam that was found dead on the farm three weeks after a miscarriage. The dam was a black coat alpaca bred in the Netherlands, imported in Italy in January 2021, and housed in a farm of central Italy for breeding purposes. Signalment and clinical data on dam and fetus were collected from the farmer and referring veterinarian.
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