Atypical MRI findings in Canavan disease: A patient with a mild course

Yalcinkaya C., Benbir G., Salomons G., Karaarslan E., Rolland M., Jakobs C., ...Daha Fazla

NEUROPEDIATRICS, cilt.36, sa.5, ss.336-339, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 5
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1055/s-2005-872878
  • Dergi Adı: NEUROPEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.336-339
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.