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The Full Spectrum of Mri Findings in 18 Patients With Canavan Disease: New Insights Into the Areas of Selective Susceptibility Publisher Pubmed



Rahimian E1 ; Darco F2 ; Sudhakar S2 ; Tahsini MR1 ; Azin N3 ; Morovvati M1 ; Karimzadeh P4 ; Farahvash MA1
Authors
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Authors Affiliations
  1. 1. Haghighat medical imaging research center, Haghighat medical imaging center, E Janbazan St, PFJW+269, Tehran, Iran
  2. 2. Radiology Department, Neuroradiology Unit, Great Ormond Street Hospital, London, United Kingdom
  3. 3. Radiology department, school of medicine, Isfahan university of medical sciences, Isfahan, Iran
  4. 4. Department of Pediatric Neurology, School of Medicine, Mofid Children’s Hospital, Tehran, Iran

Source: Neuroradiology Published:2024


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. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024.