1.
Pediatr Neurol
; 45(4): 256-8, 2011 Oct.
Artículo
en Inglés
| MEDLINE
| ID: mdl-21907889
RESUMEN
Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease.