A comprehensive report on the clinical,pathological,and genetic characteristics of Stormorken syndrome attributed to a STIM1 gene mutation,diagnosed in adulthood
10.3969/j.issn.1002-0152.2025.01.011
- VernacularTitle:成人期确诊STIM1基因突变所致Stormorken综合征1例
- Author:
Lili LIU
1
;
Lin ZHU
1
;
Jun HU
1
;
Wenyuan LUO
1
;
Xuhui CHEN
1
;
Di CHEN
1
;
Juanjuan CHEN
1
Author Information
1. 北京大学深圳医院神经内科(深圳 518036)
- Publication Type:Journal Article
- Keywords:
Stormorken syndrome;
Tubular-aggregate myopathy;
Epilepsy;
Stromal interaction molecule;
Muscle biopsy
- From:
Chinese Journal of Nervous and Mental Diseases
2025;51(1):60-64
- CountryChina
- Language:Chinese
-
Abstract:
To report a case of Stormorken syndrome(STRMK)diagnosed in adulthood and to study its clinical,pathological and genetic characteristics.The individual was a 31-year-old male whose symptoms started from childhood with epilepsy as initial symptom.He gradually developed progressive muscle weakness and atrophy.The patient's clinical data,laboratory results,and imaging studies were collected.A biopsy on the patient's left gastrocnemius muscle was conducted.Simultaneously,whole-exome sequencing on both the patient and his parents was performed.The physical examination of the patient showed short stature,proximal muscle weakness with lower limb predominance,accompanied by joint contracture and scoliosis.Abdominal CT examination revealed asplenia and magnetic resonance image(MRI)showed obvious fat infiltration in the bilateral lower limb muscle.Muscle biopsy was consistent with tubular-aggregate myopathy.Genetic test indicated that the patient had a c.326A>G(p.His109Arg)heterozygous mutation in the stromal interaction molecule 1(STIM1)gene,a known pathogenic mutation.This study further enables neurologists to gain a better understanding of this rare disease.
