From the Department of Neurology (F.J.S.J., C.K.), and Abramson Cancer Center, Department of Medicine (A.D.C.), University of Pennsylvania, Philadelphia.
Neurology. 2024 Oct 8;103(7):e209879. doi: 10.1212/WNL.0000000000209879. Epub 2024 Sep 5.
Approaching patients with paraproteinemic neuropathies can be challenging for the practicing neurologist, and a well-defined strategy considering specific etiologies is necessary to arrive at the correct diagnosis. In this case, a 49-year-old man presented with a 2-year history of progressive upper then lower extremity numbness, weakness, gait instability, and tremors. His examination was marked by proximal and distal symmetric upper and lower extremity weakness, large more than small-fiber sensory loss, prominent sensory ataxia, action and postural tremors, and globally absent deep tendon reflexes. His workup was notable for a chronic demyelinating sensorimotor polyradiculoneuropathy and a monoclonal immunoglobulin (Ig) M kappa gammopathy. This case highlights the approach to a patient with a rare subtype of IgM paraproteinemic neuropathy with a review of the differential diagnoses, red flag features of co-occurring hematologic disorders, and guided workup. We further discuss typical features of this rare diagnosis and therapeutic options.
对于临床神经科医生来说,处理伴有副蛋白血症的神经病变患者具有挑战性,需要制定明确的策略考虑特定病因,以做出正确的诊断。本例中,一名 49 岁男性因进行性上肢然后下肢麻木、无力、步态不稳和震颤就诊,病史 2 年。他的检查表现为近端和远端对称的上下肢无力、大纤维比小纤维感觉丧失更明显、明显的感觉性共济失调、动作性和姿势性震颤以及普遍缺乏深部腱反射。他的检查结果显示慢性脱髓鞘感觉运动性多神经根神经病和单克隆免疫球蛋白(Ig)M kappa 丙种球蛋白病。本例强调了对伴有罕见 IgM 副蛋白血症性神经病的患者的处理方法,并复习了鉴别诊断、同时存在血液系统疾病的警示特征以及有针对性的检查。我们进一步讨论了这一罕见诊断的典型特征和治疗选择。