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Neuropediatrics 2005; 36(5): 336-339
DOI: 10.1055/s-2005-872878
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Atypical MRI Findings in Canavan Disease: A Patient with a Mild Course

C. Yalcinkaya1 , G. Benbir1 , G. S. Salomons2 , E. Karaarslan3 , M. O. Rolland4 , C. Jakobs2 , M. S. van der Knaap5
  • 1Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
  • 2Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
  • 3Department of Radiology, VKV American Hospital, Istanbul, Turkey
  • 4Department of Pediatric Biochemistry, Debrousse Hospital, Lyon, France
  • 5Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Further Information

Publication History

Received: January 13, 2005

Accepted after Revision: September 7, 2005

Publication Date:
11 October 2005 (online)

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Abstract

Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas, with bilateral involvement of the globus pallidus. Proton magnetic resonance spectroscopy of the brain shows an increase in the concentration of N-acetylaspartic acid (NAA). The altered NAA metabolism has been traced to mutations in the gene encoding ASPA, located on chromosome 17 (17p13-ter). We present here a patient with a mild form of Canavan disease confirmed with the absent ASPA activity, atypical MRI findings, related to compound heterozygosity for a missense mutation, p.Tyr288Cys, and the known pan-European mutation, the p.Ala305Glu.

Key words

Canavan disease - MRI - mild course - mutations

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Prof. Dr. Cengiz Yalcinkaya

Division of Child Neurology
Neurology Department
Cerrahpasa Medical School
Istanbul University

34098 Istanbul

Turkey

Email: cyalcin@ideefixe.com

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