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Hipoplasia ponto cerebelar

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Reporte de caso de niño de 18 meses, con deficiencia de vitamina A e hipoplasia ponto cerebelar

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Hipoplasia ponto cerebelar

  1. 1. Hipoplasia ponto-cerebelar tipo 3 con deficiencia severa de vitamina AMaria José Álvarez O.Grupo de Investigación en discapacidad visual y ceguera2012
  2. 2. Vitamina A• Retinol• Ác. Retinóico, retinaldehído.• VN sangre: 30-100 µg/dL*• Requerimientos diarios adulto: 1000 UI (1gr), Mujeres gestantes 1500 UI• Toxicidad en altas concentraciones.* Harrison’s Internal Medicine 18th ed.
  3. 3. Vitamina A• Importante en varios procesos: - Desarrollo de adecuado sistema inmune - Morfogénesis, crecimiento y ≠ de SNC - Procesos visuales.• 90 millones de niños en edad escolar con deficiencia, 4 millones con manifestaciones clínicas (Xeroftalmia, nictalopía, Manchas de Biot en la esclera, Lesión corneal)
  4. 4. Hipoplasia• Desarrollo Disminuido, retardado, celularidad menor a la normal. Hipoplásico Normal
  5. 5. Hipoplasia Ponto cerebelar• Grupo de desórdenes congénitos del neuro desarrollo. Etiología autosómica recesiva.• Afecta córtex cerebelar, núcleo dentado, pontino y olivas inferiores.
  6. 6. Hipoplasia ponto cerebelar• 1: Pérdida de motoneuronas espinales.• 2: Conserva motoneuronas, distonía, corea.• 3: Atrofia cerebelar, óptica, microcefalia.• 4: Mioclonía, hipertonía muscular.• 5: Hip. olivo ponto cerebelar, convulsión.• 6: Encefalopatía fatal.
  7. 7. Caso• Infante, 18 meses, con hipoplasia ponto cerebelar tipo 3 y deficiencia severa de vitamina A.
  8. 8. • Nacido a término, padres no consanguíneos• Madre no usó sustancias alcohólicas, tóxicas o alucinógenas• Ultrasonido hecho a la 18a Semana de gestación confirma pie equinovaro derecho, posteriormente tratado,
  9. 9. Escala APGAR
  10. 10. Puntaje APGAR• 4 - 1 minuto• 6 - 5 minutos• 8 - 10 minutos• Fue necesaria ventilación con presión positiva.
  11. 11. • Hiperbilirrubinemia (18.8 mg/ dL) tratada con fototerapia
  12. 12. Seguimiento al desarrollo• 6 meses aparecen signos evidentes de retraso en el desarrollo motor, bebé incapaz de rodar.• 14 meses rueda pero no es capaz de sentarse independientemente.
  13. 13. • Reflejo de aprehensión inmaduro.• Comienzo de gestos y sonidos pero no de palabras.• Reflujo GE y constipación frecuente.• Pupilas hiporreactivas, no movimiento de persecución, sin nistagmus.
  14. 14. Percentiles 14 meses
  15. 15. Percentiles 14 meses
  16. 16. Percentiles 14 meses
  17. 17. • Fondo de ojo con palidez de los discos ópticos, atenuación de los vasos retinales en concordancia con atrofia óptica.
  18. 18. • Examen neurológico: -manos empuñadas, pulgares corticales -Reflejos tendinosos exacerbados y clonus sostenido en reflejo aquiliano derecho.
  19. 19. RM 15 meses• Hipoplasia pontocerebelar con atrofia de quiasma óptico.
  20. 20. Discusión• En la hipoplasia ponto cerebelar puede haber diversidad en cuanto a las manifestaciones, ya que puede presentarse hipotonía, microcefalia y episodios convulsivos en menores de 1 año.
  21. 21. • Algunas pruebas genéticas asocian esta entidad al cromosoma 7q11-q21• La clínica del paciente se ajusta en su mayoría a la que se postula en la teoría.• El paciente tuvo cariotipo normal y perfiles metabólicos normales.
  22. 22. • En algunos casos, la deficiencia de vit. A está asociada a síndromes de malabsorción, los cuales tampoco fueron demostrados en el paciente.• Aunque la vitamina A pasa por circulación materno-fetal, la madre tampoco expresaba deficiencias de la misma.
  23. 23. • Embriológicamente el puente y el cerebelo se derivan del rombencéfalo, y crecen a partir de las alas laterales del metencéfalo.• Las placas alares del metencéfalo se diferencian a puente y cerebelo y gradualmente comienzan a crecer y fusionarse.
  24. 24. La diferenciación de los neuroblastosdepende de adecuado suministro de vit. A
  25. 25. Retinaldehído deshidrogenasa II• Retinol Ácido retinóico• Localizada en el cordón espinal y algunos repliegues meníngeos.• Crea gradientes de Ac. retinóico al interior de los neuroblastos y promueve su ≠, al igual que la migración de las neuritas en el desarrollo embrionario.
  26. 26. Retinaldehído deshidrogenasa II• Retinol Ácido retinóico• Localizada en el cordón espinal y algunos repliegues meníngeos.• Crea gradientes de Ac. retinóico al interior de los neuroblastos y promueve su ≠, al igual que la migración de las neuritas en el desarrollo embrionario.
  27. 27. • Como toda enzima, la Aldehído DH hace hipofunción bajo niveles deficientes de sustrato: retinol
  28. 28. Conclusiones• La deficiencia de Vitamina A puede ser multicausal, aunque todas sean diferentes traen como consecuencia un trastorno en el desarrollo de estructuras del SNC, entre otros.• Casos como el de éste paciente incitan a ampliar las investigaciones etiológicas.

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