Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature

Canavan disease (CD; MIM 271,900) or spongy degeneration of the central nervous system (CNS) is a lethal, rare autosomal recessive leukodystrophy, first described in 1931 (Canavan in Arch Neurol Psychiatry 25: 299–308, 1931). The clinical presentation includes severe neurologic impairment and macroc...

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Detalles Bibliográficos
Autores principales: Rossler, Leon, Lemburg, Stefan, Weitkämper, Almut, Thiels, Charlotte, Hoffjan, Sabine, Nguyen, Huu Phuc, Lücke, Thomas, Heyer, Christoph M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632335/
https://www.ncbi.nlm.nih.gov/pubmed/35187608
http://dx.doi.org/10.1007/s40477-022-00667-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632335/
https://www.ncbi.nlm.nih.gov/pubmed/35187608
http://dx.doi.org/10.1007/s40477-022-00667-2

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