Article
Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene.
Journal of the neurological sciences - 15 Mar 2011
Furukawa Yutaka, Hamaguchi Ayumi, Nozaki Ichiro, Iizuka Takashi, Sasagawa Takeshi, Shima Yosuke, Demura Satoru, Murakami Hideki, Kawahara Norio, Okuyama Torayuki, Iwasa Kazuo, Yamada Masahito
Abstract excerpt
We describe a pair of monozygotic twins with an attenuated form of mucopolysaccharidosis type I (MPS-I). At age 24, they both developed cervical myelopathy as a cardinal manifestation. They each also had mild valve abnormalities and both inguinal and umbilical hernia, however, other characteristi...
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