Neurophysiolgical implications in sialidosis type 1: a case report

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.

Keywords:

• Sialidosis type 1
• NEU1 gene
• electroencephalography

Acknowledgment

We want to thank the patients who participated in this study.

Disclosure statement

The authors have nothing to disclose.

Additional information

Funding

This study was partly supported by the National Key R&D Program of China (2017YFC0907700).