Clinical features and genetic analysis of SGCE myoclonic-dystonia in 1 case with the age of onset at 1.5 years old

  • 牟常华,王纪文,周昀箐,等
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  • Shanghai Children’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, National Children’s Medical Center, Shanghai, 200127, China

Online published: 2020-09-17

Abstract

Objective To explore the clinical and genetic characteristics of myoclonic-dystonia syndrome (MDS) caused by SGCE gene mutation. Method The clinical data of myoclonic-dystonia in a child was retrospectively analyzed and the related literature was reviewed. Results A 3-year-old boy had onset at 1.5 years old. The main clinical manifestations were paroxysmal limb twitch, walking instability, posture disorder and dyskinesia, and there were no abnormalities in intelligence, language and emotion. Repeated cranial magnetic resonance imaging, electroencephalogram and hematuria metabolism screening showed no abnormality. A splicing mutation of c.1037+1G>A in SGCE gene was found by whole exon sequencing. It’s a new mutation and had not been reported at home and abroad. The diagnosis of SGCE myoclonic-dystonia was confirmed, and the treatment with zonisamide was effective. Conclusion The newly discovered c.1037+1G>A mutation of the SGCE gene can cause myoclonus-dystonia, and zonisamide is the first choice.

Cite this article

牟常华,王纪文,周昀箐,等 . Clinical features and genetic analysis of SGCE myoclonic-dystonia in 1 case with the age of onset at 1.5 years old[J]. Journal of Clinical Pediatrics, 2020 , 38(9) : 700 . DOI: 10.3969/j.issn.1000-3606.2020.09.014

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