We describe a male patient presenting with cerebellar ataxia and behavioural frontotemporal dementia in whom imaging showed cerebellar atrophy. He had significantly low N-acetyl aspartate to creatine (NAA/Cr) area ratio on MR spectroscopy of the cerebellum, primarily affecting the vermis. CT body scan showed extensive abnormal tissue within the mesentery, the retroperitoneum and perinephric areas. PET-CT showed increased tracer uptake within the wall of the aorta suggestive of an aortitis and within the perinephric tissue bilaterally. Biopsy of the perinephric tissue confirmed IgG4 disease. Treatment with steroids and mycophenolate improved his clinical state, but he developed symptoms attributed to pericardiac effusion that necessitated treatment initially with drainage and subsequently with pericardial window. After a course of rituximab, he had an episode of sepsis that did not respond to appropriate treatment and died as a result. Both the imaging findings and neurological presentation with cerebellar ataxia and behavioural frontotemporal dementia are novel in the context of IgG4 disease.

我们描述了一名患有小脑共济失调和行为额颞叶痴呆的男性患者，影像学显示小脑萎缩。在小脑 MR 波谱上，他的 N-乙酰天冬氨酸与肌酸 (NAA/Cr) 面积比明显较低，主要影响蚓部。 CT全身扫描显示肠系膜、腹膜后和肾周区域存在广泛的异常组织。 PET-CT 显示主动脉壁内和双侧肾周组织内示踪剂摄取增加，提示主动脉炎。肾周组织活检证实 IgG4 疾病。类固醇和霉酚酸酯治疗改善了他的临床状态，但他出现了心包积液引起的症状，需要首先进行引流治疗，随后进行心包开窗治疗。经过一个疗程的利妥昔单抗治疗后，他出现了一次败血症，对适当的治疗没有反应，最终死亡。小脑共济失调和行为额颞叶痴呆的影像学表现和神经学表现在 IgG4 疾病中都是新颖的。