Canavan Disease:

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. This MRI is of a one and half year old female child from Myagdi, Gandaki Zone, who presented with the history of difficulty in walking for two months duration. The clinical features are thse of severe mental retardation with inability to gain developmental milestones. Hypotonia, head lag and macrocephaly are characteristic of Canavan disease and become apparent after 5-6 months of age. Massive excretion in the urine of N-acetylaspartic acid is the biochemical marker for Canavan disease, which is caused by deficiency of the enzyme aspartoacylase. Computed Tomography (CT) scan of the head or Magnetic Resonance Imaging (MRI) of the brain reveal diffuse white matter degeneration. There is no treatment.