Pontocerebellar Hypoplasia: a Pattern Recognition Approach.

We describe magnetic resonance imaging (MRI) findings and offer "checklists" for infratentorial findings (e.g., non-lobulated vermis, dragonfly pattern of the cerebellum, cerebellar cysts, brainstem kinking, longitudinal grooves along the brainstem, flat pons) as well as for supratentorial anomalies (e.g., agenesis of corpus callosum, optic atrophy, simplified gyral pattern, and hypomyelination). The clinical context and laboratory investigations need to be considered as well. We also provide a "checklist" for clinical features. A systematic analysis of imaging and clinical features can assist in narrowing the differential diagnosis and permitting more targeted genetic testing. Some imaging patterns are diagnostic. PMID: 32410094 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32410094?dopt=Abstract

Source: Cerebellum - May 13, 2020 Category: Neuroscience Authors: Rüsch CT, Bölsterli BK, Kottke R, Steinfeld R, Boltshauser E Tags: Cerebellum Source Type: research