Abstract

Sialidosis is a rare autosomal recessive hereditary disease caused by NEU1 gene mutations. A 25-year-old woman developed generalized tonic-clonic seizures since teenage, followed by progressive visional decline and limb myoclonus. Her sister had similar presentations. Both patients were products of a consanguineous marriage. Electroencephalography (EEG) revealed extensive paroxysmal spiky beta brush. Somatosensory evoked potentials (SEP) after stimulation of median nerves demonstrated giant SEP and C-reflex support the cortical origin of myoclonus. Genetic tests confirmed that both sisters carried the known pathogenic homozygous mutation of c.544A > G in exon 3 of the NEU1 gene. The diagnosis of sialidosis type 1 was then made. This suggests that neurophysiological abnormalities, especially spiky beta brush on EEG, might facilitate the early diagnosis of sialidosis type 1.

摘要

唾液酸中毒是一种罕见的常染色体隐性遗传病，由NEU1基因突变引起。一名 25 岁的女性从青少年时期开始出现全身强直阵挛发作，随后出现进行性视力下降和肢体肌阵挛。她的姐姐也有类似的介绍。两名患者都是近亲结婚的产物。脑电图 (EEG) 显示广泛的阵发性尖刺 β 刷。刺激正中神经后的体感诱发电位 (SEP) 显示巨大的 SEP 和 C 反射支持肌阵挛的皮质起源。基因检测证实，两姐妹在 NEU1 的外显子 3 中都携带已知的致病性纯合突变 c.544A > G基因。然后诊断为唾液酸沉积症 1 型。这表明神经生理学异常，尤其是脑电图上的尖刺 β 刷，可能有助于早期诊断 1 型唾液酸沉积症。