title: Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease).
abstract: Aspartoacylase deficiency is a neurodegenerative disease which typically starts in the first months of life with muscular hypotonia and developmental standstill. One of the first diagnostic procedures in this situation is an ultrasound of the brain. There is little information available about sonographic changes in Canavan disease. We present for the first time an ultrasound follow-up in a proven case of aspartoacylase deficiency from 3 weeks to 22 months. High echogenicity of the white matter was present in the neonatal period. Additional sonographic phenomena resulting in a characteristic pattern were shown in further investigations. The distinctive sonomorphology is compared to a few other cases in the literature. The correlation to the neuropathological course of the white matter changes is discussed. Recognition of the sonographic features in addition to the clinical presentation may contribute to an effective biochemical work-up.
authors.affiliation: Abteilung Pädiatrische Neurologie, Universitäts-Kinderklinik Heidelberg, Heidelberg, Germany. NBreitbach-Faller@ukaachen.de
authors.forename: N
authors.initials: N
authors.lastname: Breitbach-Faller
authors.forename: K
authors.initials: K
authors.lastname: Schrader
authors.forename: D
authors.initials: D
authors.lastname: Rating
authors.forename: R
authors.initials: R
authors.lastname: Wunsch
mesh_terms: D017825:Canavan Disease / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014463:Ultrasonography