Keun-Hwa Jung1, Tae-Beom Ahn, Beom S Jeon. 1. Department of Neurology and Clinical Research Institute, Seoul National University Hospital, Kyung Hee University Hospital, Seoul, South Korea.
Abstract
BACKGROUND: Recognition of Wilson disease (WD) is sometimes difficult because of its diverse manifestations. Peripheral neuropathy is rarely reported in the context of WD. OBJECTIVE: To report an unusual patient with WD whose initial manifestation was peripheral neuropathy. DESIGN: Case report. SETTING: Neurology department in a tertiary referral center. METHOD: Personal observation. RESULT: A 17-year-old man, who was eventually diagnosed with WD, was initially seen with polyneuropathy at least 6 months prior to developing more typical symptoms of WD. Electrophysiological and pathological studies suggested a neuropathy of mixed type. Treatment for WD resulted in clinical and electrophysiological improvement. CONCLUSION: Wilson disease may initially appear as a treatable polyneuropathy.
BACKGROUND: Recognition of Wilson disease (WD) is sometimes difficult because of its diverse manifestations. Peripheral neuropathy is rarely reported in the context of WD. OBJECTIVE: To report an unusual patient with WD whose initial manifestation was peripheral neuropathy. DESIGN: Case report. SETTING: Neurology department in a tertiary referral center. METHOD: Personal observation. RESULT: A 17-year-old man, who was eventually diagnosed with WD, was initially seen with polyneuropathy at least 6 months prior to developing more typical symptoms of WD. Electrophysiological and pathological studies suggested a neuropathy of mixed type. Treatment for WD resulted in clinical and electrophysiological improvement. CONCLUSION:Wilson disease may initially appear as a treatable polyneuropathy.
Authors: F Sedel; C Barnerias; O Dubourg; I Desguerres; O Lyon-Caen; Jean-Marie Saudubray Journal: J Inherit Metab Dis Date: 2007-09-21 Impact factor: 4.982
Authors: Silvio Quick; Ulrike Reuner; Marie Weidauer; Charlotte Hempel; Felix Martin Heidrich; Christoph Mues; Krunoslav Michael Sveric; Karim Ibrahim; Heinz Reichmann; Axel Linke; Uwe Speiser Journal: Orphanet J Rare Dis Date: 2019-01-28 Impact factor: 4.123