Lewis-Sumner syndrome and Tangier disease.
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.
Théaudin
Marie
M
Fédération de Neurologie, Prs Lyon-Caen et Meininger, Hôpital Pitié-Salpêtrière, F-75651 Paris, France. marie.theaudin@bct.aphp.fr.
Couvert
Philippe
P
Fournier
Emmanuel
E
Bouige
Daniel
D
Bruckert
Eric
E
Perrotte
Paul
P
Vaschalde
Yvan
Y
Maisonobe
Thierry
T
Bonnefont-Rousselot
Dominique
D
Carrié
Alain
A
Le Forestier
Nadine
N
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