Resumen
Introducción. La neuropatía hereditaria con susceptibilidad a la parálisis por presión (NHPP) es una enfermedad genética que afecta fundamentalmente al componente mielínico de los nervios periféricos. Este estudio pretende describir detalladamente tres casos no emparentados familiarmente, así como realizar una revisión bibliográfica actualizada sobre el tema.
Casos clínicos. Pacientes de 23, 42 y 41 años estudiados por sospecha de neuropatía cubital (casos 1 y 2) y de síndrome del túnel carpiano bilateral (caso 3).
Resultados. Los estudios neurofisiológicos mostraron la existencia de una polineuropatía sensitivo-motora de predominio desmielinizante y mayor intensidad en localizaciones susceptibles al atrapamiento nervioso. El
estudio genético confirmó en todos ellos la existencia de una deleción a nivel del gen PMP22 (cromosoma 17p11.2).
Conclusiones. Esta neuropatía hereditaria puede simular una simple neuropatía compresiva, estando por ello infradiagnosticada. Una anamnesis completa, así como un riguroso estudio neurofisiológico son fundamentales para una orientación diagnóstica adecuada.
Citas
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