ArticleJournal of inherited metabolic disease2015
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.Neuroradiology · 2024Article
- Overview of Neuro-Ophthalmic Findings in Leukodystrophies.Journal of clinical medicine · 2024Article
- Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.Journal of ultrasound · 2023Review
- An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.SAGE open medical case reports · 2023Article
- Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations ofJournal of pediatric genetics · 2022Article
- Imaging Patterns Characterizing Mitochondrial Leukodystrophies.AJNR. American journal of neuroradiology · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 3-year-old boy was admitted with psychomotor delay, spasticity, progressive visual loss, nystagmus, macrocephaly, and epileptic seizures for diagnostics. Cranial magnetic resonance imaging (MRI) revealed leukodystrophy and multicystic changes. Urine excretion of N-acetylaspartic acid was grossly increased, suggesting Canavan disease. Mutation screening of the ASPA gene confirmed this diagnosis. The underlying enzymatic defect causes accumulation of N-acetylaspartic acid and subsequent progressive myelin degeneration with characteristic spongy degeneration of the subcortical white matter, normally only seen histologically. We describe this case to show that spongy degeneration in Canavan disease may also be present macroscopically in the form of multiple beaded periventricular cysts on cranial MRI.
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Registered trials
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