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Marie Théaudin, MD; Philippe Couvert, MD, PhD; Emmanuel Fournier, PhD; Daniel Bouige, PhD; Eric Bruckert, MD; Paul Perrotte, MD; Yvan Vaschalde, MD; Thierry Maisonobe, MD; Dominique Bonnefont-Rousselot, PhD; Alain Carrié, MD, PhD; Nadine Le Forestier, MD

Arch Neurol. 2008;65(7):968-970.

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.

Design  Case report.

Patient  A 15-year-old girl had subacute onset of asymmetric neuropathy with persistent conduction block, resembling Lewis-Sumner syndrome.

Main Outcome Measures  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.

Author Affiliations: Fédération de Neurologie (Drs Théaudin and Le Forestier), Fédération de Neurophysiologie Clinique (Drs Théaudin, Fournier, Maisonobe, and Le Forestier), Service de Biochimie Endocrinienne et Oncologique (Drs Couvert and Carrié), Service d’Endocrinologie-Métabolisme (Dr Bruckert), Laboratoire de Biochimie des Lipides (Dr Bonnefont-Rousselot), and Unité de Recherche sur les Dyslipoprotéinémies et l’Atherosclérose (Drs Couvert, Bruckert, and Bonnefont-Rousselot), Hôpital Pitié-Salpêtrière, Paris; Laboratoire de Biochimie-Endocrinologie (Dr Bouige) and Service de Neurologie, Centre Hospitalier du Havre, Hôpital J. Monod (Drs Perrotte and Vaschalde), Le Havre, France.

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