Abstract
Introduction
Canavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive white matter degeneration, leading to intellectual disability, seizures, and death. This retrospective study aims to describe the full spectrum of magnetic resonance imaging (MRI) findings in a large case series of CD patients.
Materials and methods
MRI findings in 18 patients with confirmed CD were investigated, and the full spectrum of brain abnormalities was compared with the existing literature to provide new insights regarding the brain MRI findings in these patients. All the cases were proven based on genetic study or NAA evaluation in urine or brain.
Results
Imaging analysis showed involvement of the deep and subcortical white matter as well as the globus pallidus in all cases, with sparing of the putamen, caudate, and claustrum. The study provides updates on the imaging characteristics of CD and validates some underreported findings such as the involvement of the lateral thalamus with sparing of the pulvinar, involvement of the internal capsules and corpus callosum, and cystic formation during disease progression.
Conclusion
To our knowledge, this is one of the largest case series of patients with CD which includes a detailed description of the brain MRI findings. The study confirmed many of the previously reported MRI findings but also identified abnormalities that were previously rarely or not described. We speculate that areas of ongoing myelination are particularly vulnerable to changes in CD.
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Acknowledgements
We extend our sincere gratitude to the parents of patients for their invaluable contribution to data collection, even during challenging times. Special thanks are also due to our IT team, Mr. Majid Moazzami, and Mr. Ahmadali Parse, Head of the Anesthesiology team.
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All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional research committee (Clinical Research Adoption Committee) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
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Standard clinical informed consent was obtained at the time of the scan. Informed consent for this specific study was not applicable given the retrospective nature of this research.
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Rahimian, E., D’Arco, F., Sudhakar, S. et al. The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility. Neuroradiology (2024). https://doi.org/10.1007/s00234-024-03388-x
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DOI: https://doi.org/10.1007/s00234-024-03388-x