Terminology in morphological anomalies of the cerebellum does matter

Abstract

Neuroimaging plays a key role in the diagnostic work-up of morphological abnormalities of the cerebellum. Diagnostic criteria for numerous morphological anomalies of the cerebellum are based on neuroimaging findings. Various morphological patterns have been described on neuroimaging including cerebellar hypoplasia, cerebellar agenesis, pontocerebellar hypoplasia, cerebellar dysplasia, cerebellar dysmorphia, and cerebellar atrophy. These patterns have specific differential diagnoses. The familiarity with the diagnostic criteria is mandatory for a correct diagnosis and a targeted work-up to avoid unnecessary investigations. A correct diagnosis is essential for early therapy, prognosis, and counseling of the affected children and their family.