Neuropediatrics 2003; 34(2): 96-99
DOI: 10.1055/s-2003-39601
Short Communication

Georg Thieme Verlag Stuttgart · New York

Ultrasound Findings in Follow-Up Investigations in a Case of Aspartoacylase Deficiency (Canavan Disease)

N. Breitbach-Faller 1 , K. Schrader 1 , D. Rating 1 , R. Wunsch 2
  • 1Abteilung Pädiatrische Neurologie, Universitäts-Kinderklinik Heidelberg, Heidelberg, Germany
  • 2Abteilung Pädiatrische Radiologie, Universitäts-Kinderklinik Heidelberg, Heidelberg, Germany
Further Information

Publication History

Received: April 30, 2002

Accepted after Revision: January 16, 2003

Publication Date:
30 May 2003 (online)

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 weeeks 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.

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N. Breitbach-Faller

Sozialpädiatrisches Zentrum der Universitäts-Kinderklinik Aachen

Kullenhofstraße 50

52074 Aachen

Germany

Email: NBreitbach-Faller@ukaachen.de