Brain ultrasound in Canavan disease.

ABSTRACT: 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.

SUBMITTER: Drera B 

PROVIDER: S-EPMC4142129 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature