A 31-year-old man with an unremarkable family history presented with progressive motor dysfunction, cognitive impairment, emotional incontinence, dysphagia, dysarthria, and left hemispasticity for 2 years. Results of a neurological examination showed cognitive decline, left-sided facial paralysis, frontal release signs, and asymmetric bilateral spasticity. Atrophy in the splenium of the corpus callosum was observed in the early stage. On magnetic resonance imaging, T2-weighted and fluid-attenuated inversion recovery images showed extensive white matter hyperintensities, predominantly in the subfrontal and parietal lobes and deep white matter; some of these illustrated diffusion-restricted signals (Figure 1) lasting for 1 year. Of note, hyperintense signals on diffusion-weighted imaging (DWI) with corresponding low signals on the apparent diffusion coefficient were also found in bilateral pyramidal tracts extending from the subcortex white matter to the medulla with predominance on the right side, terminating in the contralateral corticospinal tract of the cervical spinal cord (Figure 2) and thoracic spinal cord. Biochemical tests of arylsulfatase A, galactocerebrosidase, glucosidase, galactosidase, fucosidase, metabolic screening, and autoimmune antibodies had normal results. Cerebral spinal fluid analysis, including a cell count, glucose level, protein level, chloride level, oligoclonal bands, and IgG index, as well as virus antibodies for toxoplasmosis, other viruses, rubella, cytomegalovirus, and herpes simplex (TORCH) and paraneoplastic markers, had unremarkable results. Whole-exome sequencing was performed on the patient and showed a de novo c.1907T>A(p.I636N) sequence variance in colony stimulating factor 1 receptor (CSF1R) gene, which was assessed as pathogenic according to the American College of Medical Genetics and Genomics standards and guidelines, leading to the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
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Li S, Zhu Y, Yao M. Spinal Cord Involvement in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. JAMA Neurol. Published online July 13, 2020. doi:10.1001/jamaneurol.2020.2204
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