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Atypical clinical and radiological course of a patient with Canavan disease
- Source :
- Metabolic Brain Disease, Metabolic Brain Disease, 2016, 31 (2), pp.475-479. ⟨10.1007/s11011-015-9767-9⟩, Metabolic Brain Disease, Springer Verlag, 2016, 31 (2), pp.475-479. ⟨10.1007/s11011-015-9767-9⟩
- Publication Year :
- 2016
- Publisher :
- HAL CCSD, 2016.
-
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.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Pathology
Neurology
Canavan Disease
Disease
Biology
Biochemistry
Amidohydrolases
White matter
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Basal ganglia
medicine
Humans
Child
ComputingMilieux_MISCELLANEOUS
Aspartic Acid
[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics
medicine.diagnostic_test
Metabolic disorder
Brain
Magnetic resonance imaging
medicine.disease
Magnetic Resonance Imaging
Canavan disease
3. Good health
Aspartoacylase
030104 developmental biology
medicine.anatomical_structure
Female
Neurology (clinical)
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 08857490 and 15737365
- Database :
- OpenAIRE
- Journal :
- Metabolic Brain Disease, Metabolic Brain Disease, 2016, 31 (2), pp.475-479. ⟨10.1007/s11011-015-9767-9⟩, Metabolic Brain Disease, Springer Verlag, 2016, 31 (2), pp.475-479. ⟨10.1007/s11011-015-9767-9⟩
- Accession number :
- edsair.doi.dedup.....6b5b988afa025e030e02113ecec4a104