Alexander disease: early presence of cerebral MRI criteria.

[alexander disease]

Alexander disease is a rare neurodegenerative disorder . Its most frequent subtype , the infantile form , is characterized by an early onset and a rapid neurological deterioration during the first months of life . Since the publication of cerebral radiological criteria in 2001 , the disease has often been recognized by magnetic resonance imaging (MRI ) findings . We report the case of a girl who at the age of 3 months presented with partial seizures and a normal neurological examination . MRI revealed the presence of a periventricular rim , extensive frontal white matter abnormalities , abnormalities of the basal ganglia and thalami and contrast enhancement involving optic chiasm , fornix , hypothalamus and mamillary bodies , corresponding to four of the five reported MRI criteria for Alexander disease . Additional MRI abnormalities not described so far were also observed . The diagnosis was confirmed by genetic analysis . This case illustrates that diagnostic MRI abnormalities of Alexander disease may be present at a very young age , long before the appearance of characteristic clinical signs . Early diagnosis by MRI allows prompt counselling of families .