Skin Biopsy Used for the Diagnosis of Hereditary Diffuse Leukoencephalopathy With Spheroids. (28th March 2023)

• Record Type: Journal Article
• Authors: Song, Chengyuan; Wu, Fengjuan; Liu, Yiming; Wu, Xinwei; Zhao, Yuying
• Is Part Of: Neurology. Volume 100:Number 13(2023)
• Page Start: 629
• Page End: 630
• Publication Date: 2023-03-28
• Subjects: Neurology -- Periodicals; Neurology -- Periodicals; Neurologie -- Périodiques; 616.8
• DOI: 10.1212/WNL.0000000000201684
• Languages: English
• ISSNs: 0028-3878

Abstract

Abstract : 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.