title: Lewis-Sumner syndrome and Tangier disease.
abstract: OBJECTIVE
  To report unusual electrophysiologic data in a patient with Tangier disease in an effort to better understand the pathophysiologic features of the peripheral nerve lesions in this disease.
  
  
  METHODS
  Case report.
  
  
  METHODS
  A 15-year-old girl had subacute onset of asymmetric neuropathy with persistent conduction block, resembling Lewis-Sumner syndrome.
  
  
  METHODS
  Electrophysiologic data in Tangier disease.
  
  
  RESULTS
  After initially unsuccessful treatment with intravenously administered immunoglobulins, the finding of an abnormal lipid profile led to the diagnosis of Tangier disease due to the R587W mutation in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1) (OMIM 9q22-q31).
  
  
  CONCLUSIONS
  Conduction block, which is the electrophysiologic hallmark of focal demyelination, can be present in Tangier disease. It could be induced by focal nerve ischemia or by preferential lipid deposition in the paranodal regions of myelinated Schwann cells. The presence of a conduction block in Tangier disease may lead to a misdiagnosis of dysimmune neuropathy.
authors.affiliation: Fédération de Neurologie, Prs Lyon-Caen et Meininger, Hôpital Pitié-Salpêtrière, F-75651 Paris, France. marie.theaudin@bct.aphp.fr.
authors.forename: Marie
authors.initials: M
authors.lastname: Théaudin
authors.forename: Philippe
authors.initials: P
authors.lastname: Couvert
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Fournier
authors.forename: Daniel
authors.initials: D
authors.lastname: Bouige
authors.forename: Eric
authors.initials: E
authors.lastname: Bruckert
authors.forename: Paul
authors.initials: P
authors.lastname: Perrotte
authors.forename: Yvan
authors.initials: Y
authors.lastname: Vaschalde
authors.forename: Thierry
authors.initials: T
authors.lastname: Maisonobe
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonnefont-Rousselot
authors.forename: Alain
authors.initials: A
authors.lastname: Carrié
authors.forename: Nadine
authors.initials: N
authors.lastname: Le Forestier
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000175:diagnosis* / Q000503:physiopathology; D013577:Syndrome; D013631:Tangier Disease / Q000150:complications* / Q000175:diagnosis* / Q000503:physiopathology