Um desafiante diagnóstico diferencial para Síndrome Pelizaeus-Merzbacher: uma revisão da literatura

Ericks Domiciano  Borges; Nathan Colombo  Alves; Érico Torrieri; Karen Cristina Froio; Priscilla Aparecida Tartari Pereira

doi:10.33448/rsd-v11i13.35315

Autores/as

Ericks Domiciano Borges Faculdades de Dracena, Fundação Dracenense de Educação e Cultura https://orcid.org/0000-0001-6998-7032
Nathan Colombo Alves Faculdades de Dracena, Fundação Dracenense de Educação e Cultura https://orcid.org/0000-0001-7081-8295
Érico Torrieri Faculdades de Dracena, Fundação Dracenense de Educação e Cultura https://orcid.org/0000-0002-5108-7826
Karen Cristina Froio Neuropediatria https://orcid.org/0000-0003-1449-1317
Priscilla Aparecida Tartari Pereira Faculdades de Dracena, Fundação Dracenense de Educação e Cultura https://orcid.org/0000-0002-6659-2163

DOI:

https://doi.org/10.33448/rsd-v11i13.35315

Palabras clave:

Niño; enfermedad desmielinizante; leucodistrofia; Pelizaeus-Merzbacher.

Resumen

En los niños, los trastornos de la sustancia blanca se dividen tradicionalmente en dos categorías principales: leucodistrofia y leucoencefalopatías. Los primeros son el resultado de una deficiencia enzimática hereditaria que provoca una formación anormal, renovación de mielina o destrucción. Por el contrario, las leucoencefalopatías implican la destrucción de la mielina intrínsecamente normal, y el mecanismo de desmielinización se divide principalmente en lisosomal y peroxisomal. En este contexto, el Síndrome de Pelizaeus-Merzbacher (PMD) es una leucodistrofia ligada al cromosoma X, caracterizada por un retraso en el desarrollo neuropsicomotor en niños. Es una enfermedad rara, predominantemente en varones, que compromete el desarrollo y/o mantenimiento de la mielina en el Sistema Nervioso Central (SNC). Por lo tanto, el presente estudio tuvo como objetivo recopilar artículos científicos a través de una revisión narrativa sobre la Enfermedad de Pelizaeus Merzbacher, abordando su clasificación, fisiopatología, signos y síntomas y los desafíos para llegar a su diagnóstico. De esta forma, este estudio aporta nuevas actualizaciones sobre la enfermedad y ayuda a orientar un diagnóstico diferencial, así como a buscar una mejor intervención para los pacientes con Síndrome de Pelizaeus-Merzbacher.

Citas

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Un diagnóstico diferencial desafiante para el síndrome de Pelizaeus-Merzbacher: una revisión de la literatura

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