How to Cite this Article: Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K. 2012. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. Am J Med Genet Part A 161A:203–207.
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia†
Article first published online: 13 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 203–207, January 2013
How to Cite
Kimura-Ohba, S., Kagitani-Shimono, K., Hashimoto, N., Nabatame, S., Okinaga, T., Murakami, A., Miyake, N., Matsumoto, N., Osaka, H., Hojo, K., Tomita, R., Taniike, M. and Ozono, K. (2013), A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. Am. J. Med. Genet., 161: 203–207. doi: 10.1002/ajmg.a.35686
- Issue published online: 22 DEC 2012
- Article first published online: 13 DEC 2012
- Manuscript Accepted: 7 SEP 2012
- Manuscript Received: 14 AUG 2011
- Pelizaeus–Merzbacher disease;
- cerebral hypomyelination;
- spondylo-epi-metaphyseal dysplasia
We reported on a male patient with rare leukoencephalopathy and skeletal abnormalities. The condition was first noticed as a developmental delay, nystagmus and ataxia at 1 year of age. At 4 years of age, he was diagnosed as hypomyelination with skeletal abnormalities from clinical features, brain magnetic resonance imaging (MRI) and skeletal X-rays. His brain MRI revealed diffuse hypomyelination. These findings suggested the classical type of Pelizaeus–Merzbacher disease (PMD) caused by proteolipid protein (PLP)-1 gene or Pelizaeus–Merzbacher-like disease (PMLD). However, we found neither mutation nor duplication of PLP-1. The patient had severe growth retardation and general skeletal dysplasia compatible with spondylo-epi-metaphyseal dysplasia; however the mutation of discoidin domain receptor (DDR) 2 gene was absent. The co-morbidity of hypomyelination with skeletal abnormalities is rare. We performed array CGH and no causal copy number variation was recognized. Alternatively, this condition may have been caused by a mutation of the gene encoding a molecule that functions in both cerebral myelination and skeletal development. © 2012 Wiley Periodicals, Inc.