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Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare leukodystrophy of the CNS. We present 2 patients from unrelated families with late-onset HDLS. Patient 1 was a 50-year-old woman who developed blurred speech and difficult dressing at 48 and epilepsy and uroclepsia 1 year later. Patient 2 was a 51-year-old man with a 10-month history of slurred speech and cognitive decline. Both patients had several brain MRI studies that showed persistent patchy hyperintensities on diffusion-weighted imaging images (Figure 1). These imaging findings lead us to perform genetic testing. We identified 2“likely pathogenic” variants of c.2264T>C (p.Leu755Pro) (patient 1) and c.1957T>C (p.Cys653Arg) (patient 2) in the CSF1R gene. Skin biopsy revealed the characteristic swelling of unmyelinated axons (spheroids) (Figure 2). Although brain biopsy is the gold standard for the diagnosis of this condition,1 skin biopsy may be an effective and efficient alternative for diagnosing HDLS.
Footnotes
Submitted and editor reviewed. The handling editor was Editor-in-Chief José G. Merino, MD, MPhil, FAHA, FAAN.
↵* These authors contributed equally to this work.
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- Received July 30, 2022.
- Accepted in final form October 27, 2022.
- © 2022 American Academy of Neurology
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