title: A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan. skimura@ped.med.osaka-u.ac.jp
authors.forename: Shihoko
authors.initials: S
authors.lastname: Kimura-Ohba
authors.forename: Kuriko
authors.initials: K
authors.lastname: Kagitani-Shimono
authors.forename: Natsuko
authors.initials: N
authors.lastname: Hashimoto
authors.forename: Shin
authors.initials: S
authors.lastname: Nabatame
authors.forename: Takeshi
authors.initials: T
authors.lastname: Okinaga
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
authors.forename: Keiko
authors.initials: K
authors.lastname: Hojo
authors.forename: Reiko
authors.initials: R
authors.lastname: Tomita
authors.forename: Masako
authors.initials: M
authors.lastname: Taniike
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D026922:Amino Acid Transport Systems, Acidic / Q000172:deficiency / Q000235:genetics; D017920:Antiporters / Q000172:deficiency / Q000235:genetics; D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D000070818:Discoidin Domain Receptors; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D046228:Microarray Analysis; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis / Q000235:genetics; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D011975:Receptors, Mitogen / Q000235:genetics
chemical_list: D026922:Amino Acid Transport Systems, Acidic; D017920:Antiporters; D018991:Myelin Proteolipid Protein; D011975:Receptors, Mitogen; D000070818:Discoidin Domain Receptors; D020794:Receptor Protein-Tyrosine Kinases