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目的报道1例导致青年脑卒中的不完全型Wolfram综合征病例。方法收集1例诊断为不完全型Wolfram综合征病例的临床资料,结合文献复习回顾性分析Wolfram综合征的临床、影像学特征。结果本病例为38岁,男性,因血尿入院,既往有糖尿病病史,住院过程中突然出现言语不清、右侧肢体无力,头颅CT及MRI均示颅内多发梗死病灶。给予扩容治疗后,症状改善。患者少年时期出现尿崩症表现,后出现尿道症状,并有感音性耳聋,符合不完全型Wolfram综合征。Wolfram综合征的神经系统表现多以共济失调、脑干萎缩表现为主。本患者无上述表现,而以血管病损害为主,无视力障碍。影像学表现为右侧枕叶、左侧基底节区、左侧颞叶梗死灶。未见视神经、脑干和小脑萎缩,未见垂体萎缩表现,与文献报道不同。结论以神经系统病变表现为脑卒中发作的Wolfram综合征,少见报道。青年起病的脑卒中病例,除考虑常见危险因素外,代谢性疾病和少见遗传病也可能是危险因素之一。
Objective To report a case of incomplete Wolfram syndrome that causes young stroke. Methods One case of Wolfram syndrome diagnosed as incomplete clinical data was collected. Combined with literature review, retrospective analysis of clinical and imaging features of Wolfram syndrome. Results The case was 38 years old. The male had a history of diabetes mellitus due to hematuria admitted to the hospital. Sudden speechlessness and weakness of the right limb during hospitalization showed multiple intracranial infarction lesions on CT and MRI. After dilation and treatment, the symptoms improved. Patients with juvenile onset of diabetes insipidus, urethral symptoms, and sensory deafness, in line with incomplete Wolfram syndrome. The nervous system of Wolfram syndrome mostly showed ataxia and brain stem atrophy. The patients without the above performance, and vascular disease damage, no visual impairment. Imaging findings for the right occipital, left basal ganglia, left temporal lobe infarction. No optic nerve, brainstem and cerebellar atrophy, no pituitary atrophy, and reported in the literature is different. Conclusion The Wolfram syndrome, a neurological disorder characterized by stroke, is seldom reported. In addition to common risk factors, metabolic diseases and rare genetic diseases may also be one of the risk factors for young onset stroke patients.