Vucic Steve, Chong Peter Siao Tick, Cros Didier
Department of Neurophysiology, Bigelow 1256, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.
Muscle Nerve. 2003 Dec;28(6):696-702. doi: 10.1002/mus.10505.
Primary amyloidosis (AL) may be complicated by peripheral neuropathy in 15-35% of cases. We report on four patients with atypical neurological presentations of AL neuropathy, whose diagnoses were delayed due to varied clinical presentations. The clinical presentation included painful sensory neuropathy (two patients), mononeuropathy multiplex (one patient), and primary demyelinating polyneuropathy (one patient). The latter two types of presentation have not been reported previously. The diagnosis was established by fat pad biopsy in two patients, lymph node biopsy in one, and sural nerve biopsy in one. Two patients were treated with high-dose melphalan followed by stem cell rescue, and one was treated with oral melphalan and prednisone. All three cases experienced stabilization of neuropathic symptoms. We report these cases in order to raise awareness of the varied clinical presentation of AL neuropathy.
原发性淀粉样变性（AL）在15%至35%的病例中可能并发周围神经病变。我们报告了4例具有非典型神经表现的AL神经病变患者，其诊断因临床表现各异而延迟。临床表现包括疼痛性感觉神经病变（2例）、多灶性单神经病（1例）和原发性脱髓鞘性多发性神经病变（1例）。后两种表现类型此前未见报道。2例患者通过脂肪垫活检确诊，1例通过淋巴结活检确诊，1例通过腓肠神经活检确诊。2例患者接受了大剂量美法仑治疗并随后进行干细胞救援，1例接受了口服美法仑和泼尼松治疗。所有3例患者的神经病变症状均得到稳定。我们报告这些病例以提高对AL神经病变多样临床表现的认识。
