Small vessel primary angiitis of the central nervous system: Rapidly progressing disease in a child

Abstract

Primary angiitis of the central nervous system (CNS) is a recently described and rare disease in children. It is confined to the CNS and its etiology is unknown. A 10-year-old boy, previously healthy, presented with fever, headache and focal sei- zures, followed by left hemiparesis and central facial palsy. Brain magnetic resonance imaging (MRI) showed a large parie- tooccipital, cortical and subcortical lesion, hyperintense in T2-weighted/fluid attenuated inversion recovery imaging. Subse- quently, he presented a rapid neurological deterioration by weekly relapses, having several focal seizures, worsening of previous deficits and appearance of new ones on the right hemibody. He became aphasic and developed encephalopathy. Accordingly, MRI showed an extension of the previous lesion and appearance of new ones on the left hemisphere. He was initially treated with broad spectrum antibiotics and later immunoglobulin, methylprednisolone pulses and daily oral prednisolone, without sustained improvement. Etiologic investigations, including infectious or neurometabolic disease and systemic vasculitis were negative. Cerebral angiography was normal. A lesional biopsy confirmed a small vessel primary angiitis of the CNS. Seven wk after symptom onset, he was started on monthly cyclophosphamide (seven pulses) with prednisolone, achieving clinical stabilization. Mycophenolate mophetil was then substituted for cyclosphosphamide for 18 months. During a 2-year follow-up, no new clinical or imaging deterioration has been noted. Motor deficits have improved significantly but severe expression aphasia and cognitive deficit remains. He also developed refractory multifocal epilepsy. Small vessel primary angiitis of the CNS should be considered in a child with rapidly progressing acquired neurologic deterioration, multifocal inflammatory lesions on MRI and normal angiography. Prompt diagnosis and aggressive treatment is crucial for a favorable outcome.