Abstract

Canavan disease is an autosomal recessively inherited severe progressive leukodystrophy and is rarely seen in nonJewish communities. It results from the deficiency of the aspartoacylase enzyme. The most common findings are macrocephaly, hypotonia, and neuromotor retardation. Psychomotor development ceases and hyperextension attacks follow in the sixth month. Magnetic Resonance Spectroscopy (MRS) is of high value in the diagnosis of this disease because of its high sensitivity and specificity. Although the disease has no treatment, Magnetic Resonance Imaging (MRI) and MRS are important for confirming the diagnosis and eliminating other disorders

Keywords: Canavan disease, MRI, MRI sequence

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Copyright and license

How to cite

1.
Ünlü HA, Altınbaş NK, Teber S, Derinkuyu BE, Ünlü HA, Güleroğlu NB, et al. Canavan Disease Mri and Mrs Findings: 3 Different Cases. Turk J Pediatr Dis [Internet]. 2013 Dec. 1 [cited 2025 May 25];7(4):201-5. Available from: https://turkjpediatrdis.org/article/view/216