A comprehensive report on the clinical, pathological, and genetic characteristics of Stormorken syndrome attributed to a STIM1 gene mutation, diagnosed in adulthood
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2025, Vol 51, Issue 1
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.
Authors and Affiliations
Lili LIU, Lin ZHU, Jun HU, Wenyuan LUO, Xuhui CHEN, Di CHEN, Juanjuan. CHEN
Keywords
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- EP ID EP762096
- DOI 10.3969/j.issn.1002-0152.2025.01.011
- Views 7
- Downloads 0
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