Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain

Hereditary neuropathy with liability to pressure palsies is an autosomal dominant disease that presents with focal neurological deficits in the territory of peripheral nerves. The usual cause is a deletion of 1.5 Mb at chromosome 17p11.2.It has been clear from several clinical series that other phen...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Barroso, F.A., Leiguarda, R., Nogués, M.A.
Formato: JOUR
Materias:
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_15220443_v8_n1_p26_Barroso
Aporte de:
Descripción
Sumario:Hereditary neuropathy with liability to pressure palsies is an autosomal dominant disease that presents with focal neurological deficits in the territory of peripheral nerves. The usual cause is a deletion of 1.5 Mb at chromosome 17p11.2.It has been clear from several clinical series that other phenotypes, such as isolated sensory deficits, chronic mononeuropathies, motor sensory neuropathies like CMT1A, polyneuropathy like CIDP, and Davidenkow's syndrome, may also occur in affected families.In this report, the authors present a new family with hereditary neuropathy with liability to pressure palsies (HNPP) in which one of the members suffered recurrent episodes of pain in the territory of peripheral nerve trunks along with generalized conduction nerve abnormalities and the common deletion of 1.5 Mb at 17p12.1.On this basis, the authors propose that HNPP should be considered in the differential diagnosis of painful multiple mononeuropathy. © 2006 Lippincott Williams & Wilkins, Inc.