Canavan disease
Last reviewed 01/2018
Canavan disease is a severe form of leukodystrophy characterised by a spongy degeneration of the white matter. It is particularly prevalent in Ashkenazi Jews.
The underlying defect is one of aspartoacylase deficiency.
The clinical presentation is of progressive macrocephaly after a relatively normal first few months, with hypotonia, developmental delay and problems with swallowing becoming worse towards death, usually in the first decade of life. There is no treatment other than supportive measures.
Diagnosis is using CT or MRI.