Clinical, neuroradiological, and neurophysiological characteristics of three different types of congenital cerebral hypomyelination

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  • Tanaka Manabu
    Division of Neurology, Saitama Children's Medical Center
  • Asanuma Satoshi
    Division of Otorhinolaryngology, Saitama Children's Medical Center
  • Adachi Nodoka
    Division of Otorhinolaryngology, Saitama Children's Medical Center
  • Sakata Hideaki
    Department of Speech, Language and Hearing Therapy, Faculty of Health Sciences, Mejiro University
  • Kaga Kimitaka
    National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center

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  • 先天性大脳白質形成不全症における ABR，頭部 MRI 所見および臨床経過の検討

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Abstract

  Congenital cerebral hypomyelination is characterized by hypomyelination of the cerebral white matter. Recently, various diseases were identified and classified into a new category. The authors report three cases of different types: Pelizaeus-Merzbacher disease, 18q- syndrome, and 4H syndrome (hypomyelination, hypodontia, and hypogonadotropic hypogonadism). All had different causes, and clinical course and ABR findings were affected by each genetic abnormality.

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