Corpus Callosum Atrophy in Patients with Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids: An MRI-based Study

Michiaki Kinoshita, Yasufumi Kondo, Kunihiro Yoshida, Kazuhiro Fukushima, Ken-ichi Hoshi, Keisuke Ishizawa, Nobuo Araki, Ikuru Yazawa, Yukihiko Washimi, Banyu Saitoh, Jun-ichi Kira, Shu-ichi Ikeda
2014 Internal medicine (Tokyo. 1992)  
Objective Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is an adult-onset white matter disease that presents clinically with cognitive, mental and motor dysfunction. Several autopsy reports have indicated that the corpus callosum (CC), the largest bundle of white matter, is severely affected in patients with HDLS. The aim of this study was to evaluate corpus callosum atrophy (CCA) quantitatively in HDLS patients. Methods We assessed CCA in six genetically-proven HDLS
more » ... atients (HDLS group), in comparison with that observed in 20 patients with vascular dementia (VaD group) and 24 age-matched patients without organic central nervous system (CNS) disease (non-CNS group). Using midsagittal MR images, five measurements of the CC were obtained: the width of the rostrum (aa'), body (bb') and splenium (cc'), the anterior to posterior length (ab) and the maximum height (cd). Next, the corpus callosum index (CCI) was calculated as (aa' + bb' + cc')/ab. Results All HDLS patients had white matter lesions in the CC and frontoparietal lobes on the initial MRI scans. Compared with that observed in the VaD and age-matched non-CNS groups, the CCI was significantly decreased in the HDLS group (with VaD group, p<0.01; with non-CNS group, p<0.01). Conclusion This study showed significant atrophy of the CC in all HDLS patients on the initial MRI scans obtained 6-36 months after onset. We propose that the early appearance of CCA, frequently accompanied by high-intensity in the genu and/or splenium, on T2 images is an important diagnostic clue to HDLS. Key words: hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS), colony stimulating factor 1 receptor (CSF1R), white matter lesions (WMLs), corpus callosum atrophy (CCA), corpus callosum index (CCI)
doi:10.2169/internalmedicine.53.0863 pmid:24390523 fatcat:p6fts2lhw5fy3f6a6qnnladmxi