La maladie de Canavan ou acidurie N-acétyl aspartique: à propos de 1 cas
| Autor: | Ahmed Sahloul Essoussi, N. Kabachi, K. Tlili, I. Chabchoub, L. Boughamoura, M. Yacoub, S. Tilouche, F. Chaabane |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
medicine.medical_specialty
Pathology medicine.diagnostic_test business.industry Leukodystrophy nutritional and metabolic diseases Gangliosidosis medicine.disease Canavan disease Surgery Aspartoacylase Inborn error of metabolism Pediatrics Perinatology and Child Health Magnetic resonance imaging of the brain medicine Sphingolipidosis Megalencephaly business |
| Zdroj: | Archives de Pédiatrie. 14:173-176 |
| ISSN: | 0929-693X |
| DOI: | 10.1016/j.arcped.2006.10.021 |
| Popis: | Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. The authors report a case in a 10-month-old boy who presented with developmental delay and megalencephaly noticeable after 4 months of age. Magnetic resonance imaging of the brain showed diffuse white matter degeneration. The diagnosis of Canavan disease was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry. |
| Databáze: | OpenAIRE |
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