Abstract: Canavan's disease is a degenerative disorder characterized by progressive psychomotor retardation, macrocephaly, and spongy degeneration of the brain. Patients typically present in the first 3–4 months of life with hypotonia, macrocephaly, and poor suck and swallow. Progressive macrocephaly and lack of acquisition of milestones is typical, with loss of acquired milestones over time. Magnetic resonance imaging of the brain shows diffuse symmetric involvement of the cerebral white matter. Urine testing shows N-acetyl aspartic aciduria in affected individuals. There is no specific treatment for this disorder except supportive care. Children typically succumb to this disease in the first decade of life.
Publication Year: 2014
Publication Date: 2014-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
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