From: Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Patient | MRI before miglustat | Follow-up MRI on miglustat | MRS before miglustat | MRS follow-up on miglustat |
---|---|---|---|---|
Early infantile | ||||
#2 | Slight white matter atrophy | M9: stable | ND | M6: normal |
#3 | Deep WMSA | M12: white matter atrophy affecting the corpus callosum and cortex | Normal | ND |
#4 | Deep WMSA and cortical atrophy | M24: severe WMSA | Low NAA and high Cho | M12–M24: low NAA, normal Cho, high myo-inositol |
#5 | ND | ND | ND | |
#6 | Deep WMSA and minimal atrophy of the cerebellar vermis | M12: stable | Normal | M12: normal |
#7 | Periventricular and oval centre WMSA | M12: thinning of the periventricular white matter | Normal | M12: low NAA, high Cho/NAA ratio |
#8 | Periventricular and subcortical WMSA, and thinning of the corpus callosum and middle cerebellar peduncles | M12: stable | ND | M12: low NAA |
#9 | Diffuse WMSA | M8: diffuse WMSA and slight atrophy | Low NAA, high Cho, high Cho/NAA | M8: stable |
Late infantile | ||||
#10 | Periventricular WMSA | M12–M 48: slowly progressing white matter atrophy | Normal | M12–M48: low NAA, normal Cho |
M54: stable | ||||
#11 | Normal | ND | ND | ND |
#12 | Diffuse WMSA | M12: overall atrophy especially in the cerebellar vermis | Normal | ND |
#13 | Diffuse WMSA | M9: slight cerebellar atrophy | Normal | ND |
#14 | Normal | M18: signs of cortical-subcortical atrophy in the sub- and sus-tentorial regions | Normal | M18: low NAA, high Cho, M24: normal |
#15 | WMSA in the left oval centre, and onset of cerebellar atrophy | ND | NAA/Cr ratio reduced | ND |
#16 | Periventricular WMSA, cortical and cerebellar atrophy | ND | Normal | ND |
#17 | Normal | ND | ND | ND |
Juvenile | ||||
#18 | Periventricular WMSA | M12: stable | ND | M12: normal |
#19 | Posterior periventricular WMSA and slight cortical atrophy | ND | Normal | ND |
#20 | Normal | M18 and M30: slight cortical atrophy | M0: high myo-inositol | M18: high myo-inositol, M30: high Cho/NAA ratio |