Article
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
American journal of medical genetics. Part A - 1 Jan 2013
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
Abstract excerpt
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...
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