Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Presentation
Six months of progressively worsening altered mental status.
Patient Data
There are numerous scattered small and patchy foci that reduce diffusivity about the bilateral periventricular white matter, the centrum semiovale extending into the subcortical zones of the medial perirolandic region, the bilateral posterior body and splenium of the corpus callosum, and the anterior body of the corpus callosum extending to the margin of the genu.
There is extensive, confluent FLAIR hyperintensity throughout the bilateral periventricular
white matter, and centrum semiovale.
There is a small focus on the susceptibility effect along the mid-to-anterior aspect of the left centrum semiovale with a central intermediate T2 signal, without associated abnormal enhancement. This is consistent with a cavernous malformation. There is no surrounding edema to suggest a recent hemorrhage in this region.
Case Discussion
This is a confirmed case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) present, along with incidental findings of a cavum vergae and cavernoma. ALSP is also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), pigmentary orthochromatic leukodystrophy (POLD), or neuroaxonal leukodystrophy.
The patient received a lumbar puncture. CSF analysis showed elevated protein, normal glucose, and a negative autoimmune encephalitis panel. Inpatient EEG showed left frontal slowing and a low-voltage background. Genetic testing revealed the patient had a pathological variant of the CSF1R gene with a replacement of arginine with tryptophan, a missense change associated with autosomal dominant ALSP. The genetic status of family members was currently unknown at the time of the study, but no family history of neurological disease was reported, representing a possible de novo mutation in this patient.
Following the discharge of the patient to an outside care facility, his neurological symptoms continued to deteriorate, including worsening mobility, dysphagia, weight loss, dysarthria, and experiencing a month-long bout of intermittent unresponsiveness concerning seizure-like activity.
Co-author:
Joshua Goldwag
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