Central nervous system disorders secondary to histiocytoses: neurodegeneration with potential for improvement
-
- M.D., Ph.D. Morimoto Akira
- Division of Pediatrics, Showa Innan General Hospital
-
- M.D., Ph.D. Sakamoto Kenichi
- Department of Pediatrics, Shiga University of Medical Science
-
- M.D. Kudo Ko
- Department of Pediatrics, Hirosaki University School of Medicine
-
- M.D., Ph.D. Shioda Yoko
- Children’s Cancer Center, National Center for Child Health and Development
Bibliographic Information
- Other Title
-
- 組織球症に続発する中枢神経障害：改善が期待できる中枢神経変性症
Abstract
<p>Histiocytoses, including Langerhans cell histiocytosis (LCH) and Erdheim–Chester disease (ECD), are inflammatory myeloid tumors in which monocyte lineage cells aggregate in various organs, causing tissue damage. Most of these tumors harbor oncogenic mutations in mitogen-activated protein kinase (MAPK) pathway genes, typified by BRAFV600E. Some patients with LCH develop bilateral symmetrical cerebellar lesions and brain atrophy several years after diagnosis when the initial symptoms disappear, leading to cerebellar ataxia and higher cerebral dysfunction. A similar neurological disorder has also been reported in ECD. This neurological disorder can be improved with MAPK inhibitors. When patients with this neurological disorder are identified among neurodegeneration of unknown etiology or histiocytosis patients and treated early with MAPK inhibitors, the disorder can be reversible.</p>
Journal
-
- Rinsho Shinkeigaku
-
Rinsho Shinkeigaku 64 (2), 85-92, 2024
Societas Neurologica Japonica