title: Peripheral neuropathy associated with alpha 1-antitrypsin deficiency.
abstract: Peripheral neuropathy associated with alpha 1-antitrypsin deficiency is an uncommon condition. Several recent studies have investigated the possible roles of serum proteinase inhibitors in inflammatory neuropathies, such as multiple sclerosis, Landry-Guillain-Barré syndrome, and various chronic inflammatory demyelinating peripheral neuropathies. We present a case in which alpha 1-antitrypsin deficiency (proteinase inhibitor ZZ phenotype) was diagnosed in a young white man with clinical signs and symptoms of peripheral neuropathy and a history of Landry-Guillain-Barré syndrome. We wish to emphasize the importance of serum protein electrophoresis in the diagnostic workup of patients presenting with the clinical manifestations of peripheral neuropathy.
authors.affiliation: Department of Laboratory Medicine, Yale-New Haven Hospital, Conn.
authors.forename: W G
authors.initials: WG
authors.lastname: Frederick
authors.forename: R
authors.initials: R
authors.lastname: Enriquez
authors.forename: M J
authors.initials: MJ
authors.lastname: Bookbinder
mesh_terms: D000328:Adult; D001706:Biopsy; D001798:Blood Proteins / Q000032:analysis; D004586:Electrophoresis; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D009460:Neurologic Examination; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000175:diagnosis; D011129:Polyradiculoneuropathy / Q000150:complications; D013497:Sural Nerve / Q000473:pathology; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D001798:Blood Proteins