Hereditary neuropathy with liability to pressure palsy presenting with an acute inflammatory demyelinating polyneuropathy
Autor(es): Degos B, Echaniz-Laguna A, Latour P, Vandenberghe A, Anheim M, Talmant V, Tranchant C
Resumo: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. It is usually caused by a 1.5 Mb deletion of the PMP22 gene (17p11.2). We describe the case of a 31 year-old woman who presented with acute demyelinative peripheral polyneuropathy affecting the four limbs and elevated cerebrospinal fluid protein content a few days after a viral illness. Acute inflammatory demyelinating polyneuropathy (AIDP, Guillain-Barré syndrome) was suspected. However, electrophysiologic examination suggested HNPP and subsequent genetic testing was confirmatory. This case demonstrates that HNPP can present in an acute manner, mimicking AIDP.
Palavras-Chave: Acute inflammatory demyelinating polyneuropathy; Hereditary neuropathy with liability to pressure palsy
Imprenta: Revue Neurologique, v. 160, n. 12, p. 1203-1206, 2004
Identificador do objeto digital: RN-12-2004-160-1-0035-3787-101019-ART11
Descritores: Guillain-Barre Syndrome - Pathogenesis
Data de publicação: 2004
