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Background  Focal abnormal signal intensities (FASI) on brain MRI occur commonly in patients with neurofibromatosis type 1 (NF1). The natural history of cerebellar FASI and their correlation with clinical features have not been studied comprehensively. Our aims are to describe the natural history of cerebellar FASI on repeat MRI scans and correlate the findings with the clinical features in children with NF1 and cerebellar FASI.    Method  A retrospective review of 226 brain MRI scans and hospital charts was performed in 50 patients with cerebellar FASI, who were diagnosed with NF1 during their childhood between 1999 and 2008.    Results  Mean age at the end of the study period was 16.1 years. There were 27 males. Mean duration of clinical follow up was 10.1 years. Mean duration between the first and the last MRI was 6.6 years ( n  = 36, SD: 2.8 years). FASI were rarely confined to the cerebellum. The number of FASI was highest in early childhood and decreased significantly on subsequent MRI scans in most brain regions with the exception of the cerebrum, where a fewer number of patients with a smaller number of FASI were seen. Four patterns of change in FASI size over time were determined, none correlated with the clinical features.    Conclusions  In patients with NF1, the natural history of FASI including their number, age at onset, rate of size changes, and resolution if any, varies by brain region. FASI patterns of change over time showed no clinical correlate.

cerebellum and ataxias

Cerebellar radiological abnormalities in children with neurofibromatosis type 1: part 2 - a neuroimaging natural history study with clinical correlations