RESUMEN
We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12 (PMP22 gene duplication). A schwannoma is a benign encapsulated tumor originating from a Schwann cell. A case of hereditary neuropathy with liability to pressure palsies (HNPP) concurrent with schwannoma has been previously reported. Although it seems that the co-occurrence of CMT1A and schwannomas in a family would be the result of independent events, we could not completely ignore the possibility that the coincidence of two diseases might be due to a shared genetic background.
Asunto(s)
Adolescente , Adulto , Femenino , Humanos , Masculino , Enfermedad de Charcot-Marie-Tooth/complicaciones , Cromosomas Humanos Par 17 , Predisposición Genética a la Enfermedad , Imagen por Resonancia Magnética , Neuropatía Mediana/diagnóstico , Proteínas de la Mielina/genética , Neurilemoma/complicaciones , Linaje , Neoplasias del Sistema Nervioso Periférico/diagnóstico , Neoplasias de la Médula Espinal/diagnósticoRESUMEN
The co-occurrence of multiple sclerosis and peripheral demyelinating neuropathy is rare. It has been disputed whether these are pathologically related or coincidental findings. We report a 36-year-old woman who presented with diplopia, right facial palsy and left-sided weakness. Brain magnetic resonance imaging showed a lesion indicative of central demyelinating disease. Nerve conduction studies revealed peripheral multifocal demyelinating neuropathies. We suggest that the central and the peripheral lesions may be continua of a demyelinating process.