Alexander disease with periventricular calcification: a novel mutation of the GFAP gene.

[alexander disease]

Alexander disease is a rare neurodegenerative leucoencephalopathy caused by de novo mutations in the GFAP gene . Infantile , juvenile , and adult subtypes have been described and the clinical and radiological phenotypes are broad . Here we report on a single case of juvenile -onset Alexander disease associated with a novel frameshift mutation in the GFAP gene . The 8 -year -old male patient had a relatively mild clinical phenotype characterized by dystonia , intermittent episodes of raised intracranial pressure , and characteristic radiological changes . He also presented with the additional and to our knowledge previously unreported , neuroimaging finding of periventricular calcification . We postulate that in children with leucoencephalopathy and periventricular calcification of undetermined aetiology , the diagnosis of Alexander disease should be considered . If the magnetic resonance imaging findings are compatible with Alexander disease , then DNA analysis of the GFAP gene should be performed even if the full criteria for a neuroradiological diagnosis are not met .