Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia:
A case presented brain calcification and corpus callosum atrophy from over 10 years before the onset of dementia

Miyuki Okamoto, M.D.1), Jun Takeshita, M.D.1), Kazunori Takahashi, M.D.2), Akio Tanaka, M.D., Ph.D.3), Kunihiro Yoshida, M.D., Ph.D.4) and Masaru Kuriyama, M.D., Ph.D.1)

1)Department of Neurology, Brain Attack Center Ota Memorial Hospital
2)Takahashi Neurosurgery Clinic
3)Department of Radiology, Brain Attack Center Ota Memorial Hospital
4)Department of Brain Disease Research, Shinshu University School of Medicine

A 44-year-old man made many mistakes at work over a year. Eleven years prior, he had had medical examination with headache. He presented with symptoms consistent with frontal lobe dysfunction including cognitive decline, and bilateral pyramidal signs. Brain MRI showed cerebral atrophy, localized atrophy of corpus callosum, asymmetrical white matter lesions and multiple cystic lesions. CT images showed bilateral calcifications in the parietal subcortical white matter. Reconstructed sagittal CT images showed bilateral calcifications in the frontal white matter adjacent to the anterior horns of the lateral ventricles, which had a symmetrical "stepping stone appearance" in the frontal pericallosal regions. The brain MRI and CT images performed 11 years prior already showed evidence of similar findings including corpus callosum atrophy, multiple cystic lesions, and calcifications in the parietal subcortical white matter. Similar cystic lesions and calcifications were also observed in the frontal white matter adjacent to the anterior horns of the lateral ventricles However, the changes in the brain associated with atrophy and white matter lesions at this stage were mild. Genetic analysis revealed a novel mutation, p.R782C, in the exon 18 of the colony stimulating factor 1 receptor (CSF1R) gene. The CSF1R gene encodes the colony stimulating factor 1 receptor protein. This mutation was not observed in the patient's parents. Therefore, this mutation is considered to be a de novo mutation. He was diagnosed as having adultonset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Full Text of this Article in Japanese PDF (1901K)

(CLINICA NEUROL, 57: 521|526, 2017)
key words: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), colony stimulating factor 1 receptor (CSF1R), corpus callosum atrophy, "stepping stone appearance" calcification, multiple cystic lesions

(Received: 11-Jun-17)