title: 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.
authors.affiliation: Neonatal Intensive Care Unit, Azienda Ospedaliera Istituti Ospitalieri di Cremona, viale Concordia 1, 26100 Cremona, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Drera
authors.affiliation: Neonatal Intensive Care Unit, Azienda Ospedaliera Istituti Ospitalieri di Cremona, viale Concordia 1, 26100 Cremona, Italy ; Advanced School of Ultrasonography in Pediatrics and Neonatology, Ospedale Papa Giovanni XXIII, Bergamo, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Poggiani
keywords: Aspartoacylase deficiency; Brain ultrasound; Canavan syndrome; Cranial ultrasound; Leukodystrophy; Neonatal hypotonia