Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria.
Pediatr Neurol. 2011 Oct;45(4):256-8. doi: 10.1016/j.pediatrneurol.2011.06.011.
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.
Canavan 病是一种常染色体隐性遗传性脑白质营养不良，由天冬氨酸酰基酶缺乏引起，在阿什肯纳兹犹太裔儿童中较为常见。我们报告了一例非犹太裔女性婴儿，她在 6 个月大时出现进行性大头畸形和发育迟缓。天冬氨酸酰基酶基因的序列分析显示存在已知突变和外显子 2 中的突变 c.432G>A 的复合杂合性，该突变尚未在 Canavan 病中描述。
