Differential diagnosis of cerebellar atrophy in childhood

Abstract

Starting from the imaging appearance of cerebellar atrophy (CA) we provide checklists for various groups of CA: hereditary CA, postnatally acquired CA, and unilateral CA. We also include a list of disorders with ataxia as symptom, but no evidence of CA on imaging. These checklists may be helpful in the evaluation of differential diagnosis and planning of additional investigations. However, the complete constellation of clinical (including history and neurological examination), imaging, and other information have to be considered. On the basis of a single study distinction between prenatal onset atrophy, postnatal onset atrophy, and cerebellar hypoplasia is not always possible. Apart from rare exceptions, neuroimaging findings of CA are nonspecific. A pattern-recognition approach is suggested, considering isolated (pure) CA, CA and hypomyelination, CA and progressive white matter abnormalities, CA and basal ganglia involvement, and cerebellar cortex hyperintensity.