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A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
Published on: February 4, 2022
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Diagnostic Approach to Cerebellar Hypoplasia
Andrea Accogli1,2,3, Nassima Addour-Boudrahem4, Myriam Srour5,6,7,8
1Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montreal, Canada.
Cerebellum (London, England)
|February 3, 2021
Summary
Cerebellar hypoplasia (CH) presents diverse features, challenging diagnosis. This review proposes a systematic neuroimaging approach to classify CH patterns, aiding genetic testing and improving prognostication for affected children.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Cerebellar hypoplasia (CH) is a condition characterized by reduced cerebellar volume with preserved shape.
- CH exhibits significant heterogeneity in neuroradiologic findings, genetic causes, clinical presentations, and neurodevelopmental outcomes.
- Traditional classification relies on neuroimaging patterns of cerebellar and associated brain anomalies.
Purpose of the Study:
- To review current literature on cerebellar hypoplasia.
- To propose a systematic neuroimaging-based approach for CH classification.
- To aid clinicians in diagnosis, genetic testing, and prognostication.
Main Methods:
- Literature review of cerebellar hypoplasia.
- Development of a systematic approach to recognize neuroimaging patterns in CH.
- Categorization based on isolated CH, association with cerebrospinal fluid anomalies, brainstem/cerebellar malformations, or brainstem hypoplasia with cortical anomalies/dysplasia.
Main Results:
- Advances in genetic technologies have identified numerous novel CH-associated genes.
- A systematic radiologic pattern recognition approach can guide investigations.
- This approach facilitates more precise diagnosis and improved prognostication of neurodevelopmental outcomes.
Conclusions:
- A structured neuroimaging approach, combined with clinical assessment, is crucial for evaluating children with CH.
- This systematic approach aids in guiding genetic testing and improving diagnostic accuracy.
- Enhanced understanding of CH patterns improves the screening for comorbidities and the prognostication of neurodevelopmental outcomes.
