ABSTRACT

Background: Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations in ASPA, a gene encoding the enzyme aspartoacylase. Patients present with macrocephaly, developmental delay, hypotonia, vision impairment and accumulation of N-acetylaspartic acid. Progressive white matter changes occur in the central nervous system. The disorder is often fatal in early childhood, but milder forms exist.

Materials and methods: Case report.

Results: We present the case of a 31-year-old male with mild/juvenile Canavan disease who had severe vision loss due to a retinal degeneration resembling retinitis pigmentosa. Prior to this case, vision loss in Canavan disease had been attributed to optic atrophy based on fundoscopic evidence of optic nerve pallor. Investigations for an alternative cause for our patient’s retinal degeneration were non-revealing.

Conclusion: We wonder if retinal degeneration may not have been previously recognized as a feature of Canavan disease. We highlight findings from animal models of Canavan disease to further support the association between Canavan disease and retinal degeneration.

摘要

背景： Canavan 病是一种常染色体隐性神经退行性疾病，由ASPA突变引起，ASPA是一种编码天冬氨酸酰化酶的基因。患者表现为大头畸形、发育迟缓、肌张力减退、视力障碍和N-乙酰天冬氨酸积聚。中枢神经系统发生进行性白质变化。这种疾病在儿童早期通常是致命的，但也存在较轻的形式。

材料与方法：病例报告。

结果：我们介绍了一名患有轻度/青少年 Canavan 病的 31 岁男性病例，他因类似于视网膜色素变性的视网膜变性而严重视力丧失。在此病例之前，基于视神经苍白的眼底镜证据，Canavan 病的视力丧失被归因于视神经萎缩。对我们患者视网膜变性的其他原因的调查没有揭示。

结论：我们想知道之前是否可能没有将视网膜变性视为 Canavan 病的特征。我们强调了 Canavan 病动物模型的发现，以进一步支持 Canavan 病与视网膜变性之间的关联。