Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature. (June 2019)

• Record Type: Journal Article
• Authors: Caputi, Luigi; Erbetta, Alessandra; Marucci, Gianluca; Pareyson, Davide; Eoli, Marica; Servida, Maura; Parati, Eugenio; Salsano, Ettore
• Is Part Of: Journal of clinical neuroscience. Volume 64(2019)
• Page Start: 42
• Page End: 44
• Publication Date: 2019-06
• Subjects: Angiitis -- CNS -- Leukoencephalopathy -- Leukodystrophy -- MRI -- Biopsy; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2019.03.021
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: Primary Angiitis of the Central Nervous System may mimic a leukodystrophy. Brain biopsy might be considered in case of diffuse leukoencephalopathies. It is mandatory to get a definite diagnosis when a creeping PACNS is suspected. Abstract: Primary Angiitis of the Central Nervous System (PACNS) is a rare form of idiopathic CNS vasculitis. Neuroimaging is often abnormal and characterized by multifocal brain lesions, but brain biopsy definitely confirms the diagnosis. We report the rare case of a 45-year-old female presenting with symptoms of intracranial hypertension and leukodystrophy-like neuroimaging findings. A comprehensive diagnostic work-up led to the unexpected diagnosis of a definite PACNS which was successfully treated by immunosuppressive treatment. Although rarely, PACNS can present as diffuse leukoencephalopathy on neuroimaging, and mimic even an inherited leukodystrophy. Therefore, in adults with leukodystrophy-like neuroimaging findings, careful examination of clinical and non-clinical features is mandatory to avoid missing the diagnosis of a treatable acquired disease.