[Pediatric stress-induced epileptic ataxia syndrome caused by ADPRHL2 gene variation]

M T Xu; F Fang; P Holger; Z M Liu; X T Ren; J W Li; W X Feng; J S Zeng; L J He

doi:10.3760/cma.j.cn112140-20190926-00616

[Pediatric stress-induced epileptic ataxia syndrome caused by ADPRHL2 gene variation]

Zhonghua Er Ke Za Zhi. 2020 Jun 2;58(6):503-505. doi: 10.3760/cma.j.cn112140-20190926-00616.

[Article in Chinese]

Authors

M T Xu¹, F Fang¹, P Holger², Z M Liu¹, X T Ren¹, J W Li¹, W X Feng¹, J S Zeng³, L J He⁴

Affiliations

¹ Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
² Institute of Human Genetics, Technical University of Munich, Munich 85764, Germany.
³ Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
⁴ Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

PMID: 32521964
DOI: 10.3760/cma.j.cn112140-20190926-00616

Abstract

1例ADPRHL2基因变异致应激诱发儿童癫痫-共济失调综合征女性患儿，2岁时于感染后出现发作性步态异常，病情渐进展合并肢体无力，共济失调，周围神经病和小脑萎缩等，4岁9月龄首次入院，4岁11月龄因再次感染病情急剧进展，死于呼吸衰竭。其姐18月龄行走即出现步态异常，早期神经系统表现与患儿类似，13岁感染后出现癫痫和意识障碍等，治疗无效死亡。患儿及其姐ADPRHL2基因均存在c.309-1G>T纯合剪切变异。.

Publication types

Case Reports

MeSH terms

Ataxia / diagnosis
Ataxia / genetics*
Child
Epilepsy / diagnosis*
Epilepsy / genetics
Glycoside Hydrolases
Humans
Stress, Physiological*

Substances

Glycoside Hydrolases
ADPRS protein, human