Lewis-Sumner syndrome and Tangier disease.

Détails

ID Serval
serval:BIB_008192F1B71E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Lewis-Sumner syndrome and Tangier disease.
Périodique
Archives of neurology
Auteur(s)
Théaudin M., Couvert P., Fournier E., Bouige D., Bruckert E., Perrotte P., Vaschalde Y., Maisonobe T., Bonnefont-Rousselot D., Carrié A., Le Forestier N.
ISSN
1538-3687 (Electronic)
ISSN-L
0003-9942
Statut éditorial
Publié
Date de publication
07/2008
Peer-reviewed
Oui
Volume
65
Numéro
7
Pages
968-970
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
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.
Case report.
A 15-year-old girl had subacute onset of asymmetric neuropathy with persistent conduction block, resembling Lewis-Sumner syndrome.
Electrophysiologic data in Tangier disease.
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).
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.

Mots-clé
Adolescent, Female, Humans, Neural Conduction/physiology, Peripheral Nervous System Diseases/complications, Peripheral Nervous System Diseases/diagnosis, Peripheral Nervous System Diseases/physiopathology, Syndrome, Tangier Disease/complications, Tangier Disease/diagnosis, Tangier Disease/physiopathology
Pubmed
Web of science
Open Access
Oui
Création de la notice
12/12/2017 18:35
Dernière modification de la notice
20/08/2019 13:22
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