Hypoplasia of the corpus callosum in Niemann-Pick type C disease

Abstract

In two unrelated patients with Niemann-Pick type C disease MRI showed symmetrical cerebral and cerebellar atrophy and hypoplasia of the corpus callosum. T2-weighted images in one showed high signal areas in the posterior white matter.

Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease

“…Treatment with cholesterol lowering agents caused the disappearance of the lipid peak at 13 and 19 months. Our results are not consistent with previous findings 43. We found regionally reduced NA/Cre and increased Cho/Cre but no abnormal lipid peaks in any of the ROIs of our patients.…”

“…43 Our MRI findings suggest that cerebral and cerebellar atrophy and white matter abnormalities, although non-specific, are often present in NP-C. The significant correlation between brain atrophy and clinical score scales increases the value of MRI in evaluating patients with NP-C.…”

Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C

“…Abnormalities in cerebellar structure have been reported as abnormal in single patients and small series, with findings including volume loss [20,21], and reduced magnetisation transfer ratio [22]. We have previously shown, using a voxel-based approach, that cerebellar volume loss (particularly in anteromedial regions) is demonstrable on MRI scanning in adult NPC sufferers, and accompanies significant subcortical volume loss in regions such as the thalamus, striatum and hippocampus [23].…”

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

“…Alterations in the intensity of T2-weighted imaging have been commonly reported in adult NPC, [7][8][9][10] and T2 changes have been reported in the corpus callosum. 7 Reduction of callosal size has been reported in series of pediatric 11,12 and adult patients.…”

“…7 Reduction of callosal size has been reported in series of pediatric 11,12 and adult patients. 9,[13][14][15] DTI studies in NPC show marked reductions in fractional anisotropy in the callosum in particular, among other long association tracts, in both children 11 and adults. 16 However, given that the callosum is topographically organized with different callosal regions connecting different contralateral regions of cerebral cortex, 17 it is unclear whether these changes occur globally across the callosum or are restricted to specific regions carrying homotopic fibers from discrete cortical regions.…”