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1 paź 2024 · Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspartoacylase deficiency, is a leukodystrophy clinically characterized by megalencephaly, severe mental and neurological deficits, and blindness.
A, CT shows normal-sized ventricles and no sign of atrophy, but there is severe white-matter disease. B, MR image (2000/80 at 1.5 T) verifies severe white-matter disease supratentorially.
1 lip 1990 · The CT and MR findings in Canavan disease are nonspecific and somewhat nonuniform: its preautopsy diagnosis relies primarily on biochemical findings. 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.
Choroba Canavan zwana również leukodystrofią gąbczastą jest rzadkim schorzeniem uwarunkowanym genetycznie. Należy do zwyrodnieniowych chorób ośrodkowego układu nerwowego. Zaliczamy ją do nieuleczalnych schorzeń metabolicznych.
16 wrz 1999 · Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%).
Canavan disease, or spongy degeneration of the CNS, usually presents in early infancy with hypotonia, followed by spasticity, cortical blindness, and megalencephaly [1 , 2]. This is a rapidly progressive illness with a mean survival time of 3 years, although protracted cases do occur [9, 1 0].
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.
