No clasificables

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No clasificables No clasificables Caso 19 Sd. Alexander Estudio inicial, 2a Control a los 2 años

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Caso 19 Sd. Alexander. Estudio inicial, 2a. Control a los 2 años. No clasificables. Caso 19 Sd. Alexander (patrón de herencia desconicido) Varón, 2 a (control 4 a). Retraso psicomotor, mov.espásticos, convusiones, vómitos, alt. Comportamiento. RM: - PowerPoint PPT Presentation

Transcript of No clasificables

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No clasificablesNo clasificables Caso 19

Sd. AlexanderEstudio inicial, 2a

Control a los 2 años

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No clasificablesNo clasificablesCaso 19

Sd. Alexander (patrón de herencia desconicido)

Varón, 2 a (control 4 a). Retraso psicomotor, mov.espásticos, convusiones, vómitos, alt. Comportamiento.

RM:

Alteración difusa y simétrica de la IS de s. blanca de predominio frontal y en tractos posteriores del tronco y de pedunculos cerebelosos.

Alteracion de la señal de los ganglios basales y tálamos.

Espectroscopia:

Disminución del cociente NNA / Cr, elevación del Cho/ Cr y aumento del mI, debidos a desmielinización y degeneración neuroaxonal.

P. Complementarias:

Mutación del gen GFRA.

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Sd. Alexander Mujer, 4 a. Crisis convusivas y retraso del desarrollo psicomotor.

RM:

Afectación predominante de la s. blanca supratentorial frontal bilateral y simétrica.

Difusión:

Clara restricción de la misma asociada en regiones periventriculares frontales.

Espectroscopía:

Presencia de pico anormal de lactatos, disminución NAA/ Cr, aumento de Cho/Cr.

espectroespectro

difusión

FLAIR

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Sd. Aicardi- Gouitères Mujer, 9m. Alt alimentación, irritabilidad,

hipertonía.

RM:

Alt. parcheada de la s.blanca, depósitos Ca en n. basales y tálamos

P.complementarias:

Linfocitosis en el LCR y defecto no

determinado en cromosoma 3p21.

T2

Control al año, FLAIR

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Distrofia muscular

Varón, 7 a.

Distrofia muscular avanzada hereditaria (AR).

RM:Afectación de s. blanca bilateral y simétrica.

Discretos cambios atróficos asociados.

No se ha podido especificar genéticamente subtipo.IRIR

T2T2

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Sd. de hipomielinización periférico y central + hipogonadismo hipogonadotrófico

( ≈Sd. 4H, aunque no se objetiva hipodontia )

Varón, 2 a. Retraso madurativo.

RM:

Afectación de s. blanca de coronas radiadas, de centros semiovales y del cuerpo calloso.

P. complementarias:

Disminución de galactocerebrosidasa y de esfingomielina.

IR

T2

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Sd. CACH Varón, 6 a.

Marcado retraso e hipotonía progresivos.

RM:

Afectación muy extensa y progresiva con

Cavitación aunque sin atrofia cortical.

1º estudio

2º estudio a los 2 a


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