Metabolic Brain Disease

, Volume 31, Issue 2, pp 475–479 | Cite as

Atypical clinical and radiological course of a patient with Canavan disease

  • Catherine Sarret
  • Odile Boespflug-Tanguy
  • Diana Rodriguez
Short Communication

Abstract

Canavan disease (CD) is a rare metabolic disorder caused by aspartoacylase (ASPA) deficiency. It leads to severe neurological degeneration with spongiform brain degeneration. Accumulation of N-acetylaspartate (NAA) in brain and urine is specific to the disease and guides diagnosis. Magnetic resonance imaging (MRI) usually shows diffuse white matter abnormalities with involvement of the basal ganglia. Mild forms of the disease with a more favorable clinical course and radiological involvement of the basal ganglia without white matter abnormalities have also been reported. Here we report an atypical case of a girl aged nine years with CD. The disease started at the classical age of five months. Classical elevation of NAA in brain and urine was present and genetic analysis identified mutations in the ASPA gene. However, clinical evolution was milder than typical CD, with partial motor impairment and relatively well-preserved cognitive skills. MRI was also atypical with low white matter involvement and unusual topography and evolution of abnormalities in the basal ganglia.

Keywords

Canavan disease Aspartoacylase N-acetyl-aspartate Magnetic resonance imaging 1H magnetic resonance spectroscopy 

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Catherine Sarret
    • 1
    • 2
  • Odile Boespflug-Tanguy
    • 3
    • 4
  • Diana Rodriguez
    • 4
    • 5
    • 6
  1. 1.Image-Guided Clinical Neuroscience and Connectomics (IGCNC), EA7282University of Auvergne, Clermont-Ferrand University HospitalClermont-FerrandFrance
  2. 2.Department of PediatricsClermont-Ferrand University HospitalClermont-FerrandFrance
  3. 3.APHP, Department of Child Neurology and Metabolic Diseases, Leukodystrophies Reference CentreRobert Debré HospitalParisFrance
  4. 4.Inserm U1141 Paris Diderot Sorbonne University – Paris Cité, DHU PROTECT, Robert Debré HospitalParisFrance
  5. 5.APHP, Department of Child NeurologyArmand Trousseau HospitalParisFrance
  6. 6.Sorbonne Universités, UPMC Univ Paris 06ParisFrance

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