[Canavan disease or N-acetyl aspartic aciduria: a case report].

Abstract

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.

• Authors: L Boughamoura, F Chaabane, S Tilouche, I Chabchoub, N Kabachi, K Tlili, M Yacoub, A-S Essoussi
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 14 Issue 2 Pg. 173-6 (Feb 2007) ISSN: 0929-693X [Print] France
• Vernacular Title: La maladie de Canavan ou acidurie N-acétyl aspartique: à propos de 1 cas.
• PMID: 17196380 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Aspartic Acid
• N-acetylaspartate

Topics

• Aspartic Acid (analogs & derivatives, urine)
• Brain (pathology)
• Canavan Disease (diagnosis)
• Diagnosis, Differential
• Gas Chromatography-Mass Spectrometry
• Humans
• Infant
• Magnetic Resonance Imaging
• Magnetic Resonance Spectroscopy
• Male