Case 317: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

HomeRadiologyVol. 308, No. 3 PreviousNext Diagnosis PleaseCase 317Case 317: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented GliaPokhraj Prakashchandra Suthar, Miral Jhaveri, Mustafa Mafraji Pokhraj Prakashchandra Suthar, Miral Jhaveri, Mustafa Mafraji Author AffiliationsFrom the Department of Diagnostic Radiology and Nuclear Medicine, Rush University Medical Center, 1653 W Congress Pkwy, Chicago, IL 60612.Address correspondence to M.M. (email: [email protected]).Pokhraj Prakashchandra SutharMiral JhaveriMustafa Mafraji Published Online:Sep 26 2023https://doi.org/10.1148/radiol.220790See erratumMoreSectionsFull textPDF ToolsAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookXLinked In AbstractAn incomplete version of this article appeared online. An additional winner, Taro Shimono, MD, PhD, was announced on March 26, 2024.HistoryA 44-year-old previously healthy man with a 9-month history of progressive cognitive decline, depression, urinary incontinence, and inability to perform tasks of daily living presented to the emergency department with worsening cognitive and neuropsychiatric symptoms. He had become more distressed, and his family noticed him departing the house without closing doors, leaving water faucets running, and sending his children to school on Sundays. History taken from the patient's wife revealed that his brother had passed away in his late 30s after a slowly progressing functional and cognitive decline over the course of 5 years. No further detailed family history could be obtained. The review of systems was negative; he had no prior medical, psychiatric, or surgical history; and he denied any history of recent travel, camping, hiking, or vaccination. The patient was not taking any dietary supplements, nor was he taking any over-the-counter or prescription medication.Examination revealed vital signs were within normal limits. Neurocognitive assessment revealed a conscious, coherent, and alert patient with impaired memory and concentration. He showed poor attention, depressed mood, and restricted affect. He was unable to spell the word world forward, nor was he able to understand a request to spell it backward. The rest of the physical and neurologic examination revealed no abnormalities. Extensive laboratory work-up was conducted and included the following: toxicology screening; screening for HIV-1, HIV-2, and syphilis treponemal antibodies; COVID-19 polymerase chain reaction; and measurement of B1 and B12 levels. The results of screening were negative. Cerebrospinal fluid (CSF) assays, including CSF oligoclonal bands and CSF flow cytometry, revealed values within normal limits.CT of the brain without intravenous contrast material was performed in the emergency department to rule out acute intracranial abnormality. Multiplanar multisequence MRI of the brain without and with intravenous contrast material was ordered for further assessment. CT images of chest, abdomen, and pelvis were unremarkable (images not shown).References1. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011;44(2):200–205. Crossref, Medline, Google Scholar2. Lynch DS, Jaunmuktane Z, Sheerin UM, et al. Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. J Neurol Neurosurg Psychiatry 2016;87(5):512–519. 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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical and imaging characteristics. Neuroradiol J 2019;32(2):139–142. Crossref, Medline, Google ScholarArticle HistoryReceived: Apr 2 2022Revision requested: May 10 2022Revision received: July 27 2022Accepted: Aug 3 2022Published online: Sept 26 2023 FiguresReferencesRelatedDetailsCited ByNeuroimaging of CSF1R-related DisorderJarosław Dulski, ,Erik H. Middlebrooks, ,Zbigniew K. 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