title: Atypical clinical and radiological course of a patient with Canavan disease.
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.
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), EA7282, University of Auvergne, Clermont-Ferrand University Hospital, 58 rue Montalembert, 63003, Clermont-Ferrand, cedex, France. csarret@chu-clermontferrand.fr.|Department of Pediatrics, Clermont-Ferrand University Hospital, Clermont-Ferrand, France. csarret@chu-clermontferrand.fr.
authors.forename: Catherine
authors.initials: C
authors.lastname: Sarret
authors.affiliation: APHP, Department of Child Neurology and Metabolic Diseases, Leukodystrophies Reference Centre, Robert Debré Hospital, Paris, France.|Inserm U1141 Paris Diderot Sorbonne University - Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France.
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.affiliation: Inserm U1141 Paris Diderot Sorbonne University - Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France.|APHP, Department of Child Neurology, Armand Trousseau Hospital, Paris, France.|Sorbonne Universités, UPMC Univ Paris 06, Paris, France.
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
mesh_terms: D000581:Amidohydrolases / Q000378:metabolism; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D017825:Canavan Disease / Q000175:diagnosis / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase
keywords: 1H magnetic resonance spectroscopy; Aspartoacylase; Canavan disease; Magnetic resonance imaging; N-acetyl-aspartate