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A case report of neuronal intranuclear inclusion disease and literature review.
BMC Neurol
December 2024
Department of Neurology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, 518036, China.
Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease with a characteristic pathological feature of eosinophilic hyaluronan inclusions in the nervous system and internal organs. The identification of GGC-repeat expansions in the Notch 2 N-terminal like C (NOTCH2NLC) gene facilitates the accurate diagnosis of NIID. Due to its rareness and high clinical heterogeneity, the diagnosis of NIID is often delayed or missed.
View Article and Find Full Text PDFA nutritionally compromised infant with severe lactic acidosis and basal ganglia hyperintensities.
J Paediatr Child Health
September 2024
Department of Pediatrics, Government Medical College (GMC), Srinagar, India.
Abnormalities in brain magnetic resonance imaging associated with vigabatrin therapy in an infant with infantile epileptic spasms syndrome.
Clin Toxicol (Phila)
December 2024
Department of Neuroradiology, Unidade Local de Saúde de Santa Maria, Lisboa, Portugal.
Introduction: Vigabatrin, an anticonvulsant drug used for refractory epilepsy and as first-line treatment for infantile epileptic spasms syndrome, can rarely cause brain abnormalities detectable on magnetic resonance imaging. These complications, potentially related to dose, young age, and concomitant high doses of adrenocorticotropic hormone and/or prednisolone, can lead to neurological symptoms. Upon withdrawal or dose reduction, symptoms and imaging changes tend to resolve.
View Article and Find Full Text PDFCerebellar, Hippocampal, and Basal Nuclei Transient Edema with Restricted Diffusion (CHANTER) syndrome is a recently recognized distinct clinicoradiographic pattern of neurologic injury occurring most commonly following polysubstance or opioid abuse. Patients present acutely with unresponsiveness or coma. Magnetic resonance (MR) imaging demonstrates key findings, including bilateral diffusion restriction in the cerebellar cortices and hippocampi and variable diffusion restriction in the basal ganglia.
View Article and Find Full Text PDFCase Report: Diffuse cerebral lymphomatosis with superimposed multifocal primary CNS lymphoma.
Front Radiol
November 2024
Department of Radiology, UC San Diego, San Diego, CA, United States.
Description: Cerebral lymphomatosis (CL) is a rare subtype of primary central nervous system lymphoma (PCNSL). In CL, atypical lymphoid cells diffusely infiltrate the cerebral parenchyma without forming a discrete mass as seen with PCNSL. We report a case of a 66-year-old woman with diffuse CL and superimposed areas of PCNSL.
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