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Visual Agnosia Mimicking Memory Impairment: A Case Report of Posterior Cortical Atrophy.
Neuroophthalmology
September 2023
Independent researcher, Mexico City, Mexico.
Vision specialists will benefit from increased awareness of posterior cortical atrophy (PCA) syndrome. Failure to adequately identify the chief complaint as a visual symptom may lead to incorrect diagnosis or diagnostic delay. A previously healthy, 59-year-old woman presented with a 5-year history of 'losing her stuff'.
View Article and Find Full Text PDFOculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.
Eur J Pediatr
June 2023
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Unlabelled: Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. The aim of this study was to explore the neurovisual, cognitive, adaptive, and behavioral profile of children affected by OCA, also evaluating any possible effect of the visual acuity deficit on the clinical profile and genotype-phenotype correlations. Eighteen children (9 males, mean age 84 months ± 41; range 18-181 months) with a molecular confirmed diagnosis of OCA were enrolled in the study.
View Article and Find Full Text PDFNeuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature.
J Neurol Sci
June 2022
Department of Ophthalmology and Vision Sciences, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; Department of Medicine, Division of Neurology, University of Toronto, Ontario, Canada. Electronic address:
Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS as well as its pathophysiology, diagnostic approach, and treatment options.
View Article and Find Full Text PDFCase Report: A Neuro-Ophthalmological Assessment of Vision Loss in a Pediatric Case of McCune-Albright Syndrome.
Front Med (Lausanne)
March 2022
Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.
Patients diagnosed with McCune-Albright Syndrome (MAS) frequently manifest craniofacial fibrous dysplasia (FD). Craniofacial FD can impinge nerve fibers causing visual loss as well as craniofacial pain. Surgical decompression of affected nerves is performed, with variable efficacy, in an attempt to restore function or alleviate symptoms.
View Article and Find Full Text PDFCerebrospinal fluid dynamics in idiopathic intracranial hypertension: a literature review and validation of contemporary findings.
Acta Neurochir (Wien)
December 2021
Neurosurgery KUH NeuroCenter, Kuopio University Hospital, and Faculty of Health Sciences, School of Medicine, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Background: Idiopathic intracranial hypertension (IIH) is a rare disease of unknown aetiology related possibly to disturbed cerebrospinal fluid (CSF) dynamics and characterised by elevated intracranial pressure (ICP) causing optic nerve atrophy if not timely treated. We studied CSF dynamics of the IIH patients based on the available literature and our well-defined cohort.
Method: A literature review was performed from PubMed between 1980 and 2020 in compliance with the PRISMA guideline.
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