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A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children
- Source :
- Applied Sciences, Vol 11, Iss 2333, p 2333 (2021), Applied Sciences, Volume 11, Issue 5
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- Background: Cerebellar atrophy is a neuroradiological definition that categorizes conditions heterogeneous for clinical findings, disease course, and genetic defect. Most of the papers proposing a diagnostic workup for pediatric ataxias are based on neuroradiology or on the literature and experimental knowledge, with a poor participation of clinics in the process of disease definition. Our study aims to offer a different perspective on the way we approach cerebellar atrophy in developmental age, building a clinical-based diagnostic workup to guide molecular diagnosis. Methods: we recruited 52 patients with pediatric-onset cerebellar atrophy and definite disease categorization. Children underwent brain MRI, neurophysiological exams, metabolic investigations, and muscle biopsy with respiratory chain complex study. Single-gene sequencing, next-generation sequencing NGS panels, whole-exome sequencing (WES), and disease-specific techniques have been used to reach genetic confirmation. Results: Brain MRI is the main method of diagnosis, followed by tests on muscle biopsy and peripheral nervous system study. Other exams (e.g., metabolic investigations or evoked potentials) may be useful to narrow the list of diagnostic possibilities. Conclusions: We propose a diagnostic approach to cerebellar atrophy in children based on clinical findings, and support the evidence that a precise phenotypic definition may lead to the formulation of a definite diagnosis or otherwise guide the back phenotyping process derived from large molecular data.
- Subjects :
- Pediatrics
medicine.medical_specialty
pediatric ataxias
Disease
lcsh:Technology
Disease course
lcsh:Chemistry
03 medical and health sciences
0302 clinical medicine
cerebellar atrophy
medicine
General Materials Science
Instrumentation
lcsh:QH301-705.5
Neuroradiology
Fluid Flow and Transfer Processes
0303 health sciences
Muscle biopsy
medicine.diagnostic_test
Developmental age
business.industry
lcsh:T
Process Chemistry and Technology
030305 genetics & heredity
Respiratory chain complex
General Engineering
lcsh:QC1-999
Computer Science Applications
Disease definition
lcsh:Biology (General)
lcsh:QD1-999
lcsh:TA1-2040
genetic ataxias
Cerebellar atrophy
business
lcsh:Engineering (General). Civil engineering (General)
030217 neurology & neurosurgery
lcsh:Physics
Subjects
Details
- Language :
- English
- ISSN :
- 20763417
- Volume :
- 11
- Issue :
- 2333
- Database :
- OpenAIRE
- Journal :
- Applied Sciences
- Accession number :
- edsair.doi.dedup.....d6e8bf70b2941d7e7d39967daa7bde9e