A case of action myoclonus-renal failure syndrome caused by SCARB2 gene mutation
10.3760/cma.j.cn113694-20220427-00336
- VernacularTitle:SCARB2基因突变致动作性肌阵挛癫痫肾衰竭综合征1例
- Author:
Huan LI
1
;
Huaiqiang HU
;
Feng ZHANG
;
Xiaoling WANG
Author Information
1. 解放军联勤保障部队第九七〇医院神经内科，烟台264010
- Keywords:
Myoclonic epilepsy;
Renal failure syndrome;
SCARB2 gene
- From:
Chinese Journal of Neurology
2022;55(12):1392-1395
- CountryChina
- Language:Chinese
-
Abstract:
The article reported the clinical, electrophysiological, renal pathology and gene mutation characteristics of a patient with action myoclonus-renal failure syndrome (AMRF). The patient was a young male who developed epilepsy at the age of 16 and gradually developed tremor, ataxia, and myoclonic seizures. Brain magnetic resonance imaging was normal. The electrophysiological manifestations of the nerve were symmetrical multiple sensory and motor nerve conduction velocity deceleration, especially the easily embedded site of the nerve. Renal pathology showed focal segmental glomerulosclerosis. A new complex heterozygous mutation of SCARB2 gene c.534_537delinsCT (chr4:7710074) and c.358G>T (chr4:7710217) was detected in the patient and verified by his family. The 2 heterozygous mutations were respectively from the patient′s parents. AMRF is a rare type of epilepsy in adolescents. The early manifestations were myoclonus or abnormal renal function, with great clinical heterogeneity and easy to be misdiagnosed and missed diagnosis. The final diagnosis depends on genetic testing.
