BACKGROUND Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood. RESULTS We report a new presentation of a patient found to have Canavan disease; brain magnetic resonance imaging (MRI) revealed white matter cytotoxic edema, indi...

canavan disease is a rare, autosomal recessive inherited, neurological disorder, classified as a leukodystrophy. the symptoms of canavan disease appear in early infancy and progress rapidly. most infants with canavan disease appear normal early in life. by three to five months of age, macrocephaly, lack of head control, and developmental delays become apparent. developmental delay becomes more ...

Canavan disease is a severe progressive leukodystrophy characterized by swelling and spongy degeneration of the white matter of the brain. It is an autosomal recessive disease found more frequently among Ashkenazi Jews. The clinical features are those of severe mental retardation with inability to gain developmental milestones. Hypotonia, head lag and macrocephaly are characteristic of Canavan ...

Canavan (Van Bogaert-Bertrand) disease is a rare dysmyelinating disorder of the CNS that presents in the first year of life with spasticity, blindness, and megalencephaly [1 , 2] . The origin of this disease has not been definitely established, but it may relate to a deficiency in aspartoacyclase, an enzyme in the myelin synthesis pathway [3] . Without brain biopsy, it may be quite difficult to...

Canavan disease (spongy degeneration of the brain) is a rare lethal neurodegenerative disorder of infancy; fewer than 100 cases have been reported. We describe a series of nine patients with enzymatic defects and clinical features consistent with Canavan disease; in two patients the disease was proved by biopsy. All patients were examined with CT and seven with MR. In every instance, both CT an...

Introduction Canavan disease (CD) is an autosomal recessive leukodystrophy associated with spongy degeneration of the white matter of the brain, leading to mental retardation, megalencephaly and early death {I). Brain histology in CD shows characteristic spongy degeneration of the white matter and astrocytic swelling, while neurons are spared. Aspartoacylase (ASPA) deficiency is the basic defec...

Current evidence suggests that the effects of lithium on metabolic and signaling pathways in the brain may vary depending on the specific clinical condition or disease model. For example, lithium increases levels of cerebral N-acetyl aspartate in patients with bipolar disorder but does not appear to affect N-acetyl aspartate levels in normal human subjects. Conversely, lithium significantly dec...

how to cite this article: shalbafan b. alexander and canavan disease. iran j child neurol. autumn 2014;8;4(suppl.1):20-21.

Canavan disease is caused by mutations in the gene encoding aspartoacylase (ASPA), a deacetylase that catabolizes N-acetylaspartate (NAA). The precise involvement of elevated NAA in the pathogenesis of Canavan disease is an ongoing debate. In the present study, we tested the effects of elevated NAA in the brain during postnatal development. Mice were administered high doses of the hydrophobic m...