脳表ヘモジデリン沈着症のオーバビュー

抄録

Superficial hemosiderosis is a rare neurodegenerative disorders associated with accumulation of hemosiderin on the surface of the brain and spinal cord. The Japanese guideline for the diagnosis and classification of superficial hemosiderosis divided it into three entities, according to the distribution of iron deposition and the clinical symptoms : “classical”, “localized” and “atypical” types. Individuals having classical type are supported by government in terms of medical expenses. Classical type of superficial hemosiderosis shows slowly progressive and irreversible cerebellar ataxia, sensorineural hearing loss, and/or myelopathy. MRI T2*WI or SWI demonstrates characteristic linear low intensity signals along the surface of the brain and spinal cord. In classical cases, it is important to confirm the bleeding lesions including duropathy. However, the appropriate treatment of the lesions does not always produce good clinical recoveries. In individuals of localized type, some of them are associated with cerebral amyloid angiopathy. Pathologically, severe hemosiderin deposits and tissue necrosis are present at the level of cerebellum in classical type. Hemosiderin deposits are also seen at the base of cerebrum, brainstem and spinal cord. The pharmacological treatments including hemostatics, steroids and iron chelators need to be evaluated further.