【摘要】 报道1例成人期确诊的Stormorken综合征（Stormorken syndrome,STRMK），并研究其临床、病理及基因特点。患者为31岁男性，儿童期起病，以癫痫为首发症状，随后逐渐出现肌无力及肌萎缩。患者体格检查显示身材矮小，下肢近端肌力明显减退，伴有关节挛缩、脊柱侧弯。腹部CT检查提示脾脏缺如；双侧下肢肌肉MRI检查可见明显脂肪浸润。肌肉病理存在微管聚集（tubular-aggregate）现象。基因检测提示患者基质相互作用分子1(stromal interaction molecule 1, STIM1)基因存在c.326A>G(p.His109Arg)杂合突变，为已知致病突变。通过此次病例报道使神经科医生进一步认识该罕见疾病。更多还原

【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.更多还原