Brain ultrasound in Canavan disease.

[canavan disease]

Canavan disease (MIM 271900 ) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034 ) and characterized by a clinical onset at 3 -5 months of life , macrocephaly and poor head control , weak cry and suck , development regression and hypotonia . Here , we report cranial ultrasound findings at birth and at 4 months of age in a patient affected with Canavan disease . The comparison of our sonographic data with few other cases in literature allows us to suggest a characteristic pattern in Canavan disease .