| Autor: |
L, Boughamoura, F, Chaabane, S, Tilouche, I, Chabchoub, N, Kabachi, K, Tlili, M, Yacoub, A-S, Essoussi |
| Jazyk: |
francouzština |
| Rok vydání: |
2006 |
| Předmět: |
|
| Zdroj: |
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 14(2) |
| ISSN: |
0929-693X |
| 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 |
| Externí odkaz: |
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