title: Atypical presentations of primary amyloid neuropathy.
abstract: 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.
authors.affiliation: Department of Neurophysiology, Bigelow 1256, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.
authors.forename: Steve
authors.initials: S
authors.lastname: Vucic
authors.forename: Peter Siao Tick
authors.initials: PS
authors.lastname: Chong
authors.forename: Didier
authors.initials: D
authors.lastname: Cros
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000273:Adipose Tissue / Q000473:pathology; D000368:Aged; D017772:Amyloid Neuropathies / Q000175:diagnosis* / Q000473:pathology; D003711:Demyelinating Diseases / Q000473:pathology; D004576:Electromyography; D005260:Female; D006801:Humans; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D010523:Peripheral Nervous System Diseases / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology