A case of cerebral hypomyelination with spondylo‐epi‐metaphyseal dysplasia1. Issue 1 (13th December 2012)

• Record Type: Journal Article
• Authors: Kimura‐Ohba, Shihoko; Kagitani‐Shimono, Kuriko; Hashimoto, Natsuko; Nabatame, Shin; Okinaga, Takeshi; Murakami, Akira; Miyake, Noriko; Matsumoto, Naomichi; Osaka, Hitoshi; Hojo, Keiko; Tomita, Reiko; Taniike, Masako; Ozono, Keiichi
• Is Part Of: American journal of medical genetics. Volume 161:Issue 1(2013:Jan.)
• Page Start: 203
• Page End: 207
• Publication Date: 2012-12-13
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35686
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>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 <italic>(PLP)‐1</italic> gene or Pelizaeus–Merzbacher‐like disease (PMLD). However, we found neither mutation nor duplication of <italic>PLP‐1</italic>. The patient had severe growth retardation and general skeletal dysplasia compatible with spondylo‐epi‐metaphyseal dysplasia; however the mutation of discoidin domain receptor <italic>(DDR) 2</italic> 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.</p> </abstract>