Ariadne A Nichol, Angeline B Ngo, Meshari Alharthi, Kari Hird, Mallory Owen, Sophia Raefsky, Jennifer H Yang
{"title":"A Novel Radiographic and Genetic Variant of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Case Report.","authors":"Ariadne A Nichol, Angeline B Ngo, Meshari Alharthi, Kari Hird, Mallory Owen, Sophia Raefsky, Jennifer H Yang","doi":"10.1177/19418744251377118","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The differential for acute onset progressive leukoencephalopathy in adults is broad. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare genetic white matter disorder with typical onset around 40 years. Variability in clinical presentation can often lead to misdiagnosis with other neurodegenerative disorders, underscoring the importance of taking a detailed medical history, obtaining comprehensive diagnostic evaluations, and considering timely genetic testing.</p><p><strong>Case presentation: </strong>A 53-year-old woman with a medical history of systemic lupus erythematosus and marginal zone B-cell lymphoma in remission presented with subacute onset fatigue, confusion, and slurred speech following SARS-CoV2 infection. Diagnostic testing was unremarkable except for elevated CSF interleukin-6, tumor necrosis factor, and myelin basic protein levels. The patient was diagnosed with presumed post-infectious encephalitis. Over the next 2 months, the patient's clinical syndrome progressed to include bradykinesia, hypophonia, dysphagia and resting tremor. Pathology and genetic testing revealed a rare diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).</p><p><strong>Conclusions: </strong>This case illustrates a stepwise process for constructing a comprehensive differential diagnosis for acute onset of progressive leukoencephalopathy and a general management strategy. We also report a novel radiographic finding and genetic variant in the <i>CSF1R</i> gene associated with ALSP.</p>","PeriodicalId":46355,"journal":{"name":"Neurohospitalist","volume":" ","pages":"19418744251377118"},"PeriodicalIF":0.7000,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420650/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurohospitalist","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/19418744251377118","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: The differential for acute onset progressive leukoencephalopathy in adults is broad. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare genetic white matter disorder with typical onset around 40 years. Variability in clinical presentation can often lead to misdiagnosis with other neurodegenerative disorders, underscoring the importance of taking a detailed medical history, obtaining comprehensive diagnostic evaluations, and considering timely genetic testing.
Case presentation: A 53-year-old woman with a medical history of systemic lupus erythematosus and marginal zone B-cell lymphoma in remission presented with subacute onset fatigue, confusion, and slurred speech following SARS-CoV2 infection. Diagnostic testing was unremarkable except for elevated CSF interleukin-6, tumor necrosis factor, and myelin basic protein levels. The patient was diagnosed with presumed post-infectious encephalitis. Over the next 2 months, the patient's clinical syndrome progressed to include bradykinesia, hypophonia, dysphagia and resting tremor. Pathology and genetic testing revealed a rare diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Conclusions: This case illustrates a stepwise process for constructing a comprehensive differential diagnosis for acute onset of progressive leukoencephalopathy and a general management strategy. We also report a novel radiographic finding and genetic variant in the CSF1R gene associated with ALSP.