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DOI: 10.1055/s-2005-872878
Georg Thieme Verlag KG Stuttgart · New York
Atypical MRI Findings in Canavan Disease: A Patient with a Mild Course
Publikationsverlauf
Received: January 13, 2005
Accepted after Revision: September 7, 2005
Publikationsdatum:
11. Oktober 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