Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
J Clin Neurosci
; 75: 228-231, 2020 May.
Article
en En
| MEDLINE
| ID: mdl-32201027
ABSTRACT
Charcot Marie Tooth (CMT) due to myelin protein zero (MPZ) mutations, may cause a wide variation of phenotypes, depending on the localization of the mutation within the gene. Among the most common phenotypes are an infantile onset disease with extremely slow nerve conduction velocities (CMT1B) and an adult onset phenotype with nerve velocities in the axonal range (CMT2I). We reported a patient with CMT1B (MPZ p.Ser63del mutation) which developed an overlapping immune mediated polyradiculoneuropathy with recurrent episodes of quadriparesis and cranial nerve involvement. We observed reversible conduction block on serial neurophysiologic studies, non-uniform demyelination and good clinical response to prednisone and cyclophosphamide, as evidenced by objective functional recovery. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)-like characteristics have not yet been described associated with a MPZ p.Ser63del mutation. This description adds evidence indicating that a defective structural myelin protein may predispose peripheral nerves to immune attacks.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Polineuropatías
/
Enfermedad de Charcot-Marie-Tooth
/
Proteína P0 de la Mielina
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
J Clin Neurosci
Asunto de la revista:
NEUROLOGIA
Año:
2020
Tipo del documento:
Article