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Patchy white matter hyperintensity in ring chromosome 18 syndrome
Author(s) -
Anzai Mai,
AraiIchinoi Natsuko,
Takezawa Yusuke,
Endo Wakaba,
Inui Takehiko,
Sato Ryo,
Kikuchi Atsuo,
Uematsu Mitsugu,
Kure Shigeo,
Haginoya Kazuhiro
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.13043
Subject(s) - hyperintensity , white matter , gliosis , medicine , ring chromosome , pathology , magnetic resonance imaging , myelin , abnormality , chromosome , anatomy , genetics , biology , karyotype , gene , radiology , central nervous system , psychiatry
Ring chromosome 18 syndrome is a chromosomal abnormality in which partial deletions occur at both ends of chromosome 18, that is, distally on the short and long arms. Previously reported brain magnetic resonance imaging (MRI) abnormalities include diffuse hyperintensity in the white matter, which has been regarded as hypomyelination because the gene for myelin basic protein production is located on the long arm of chromosome 18. We report the case of a 14‐year‐old boy with ring chromosome 18 syndrome, whose MRI showed patchy asymmetrical T2 and fluid‐attenuated inversion‐recovery hyperintensities in the deep white matter as well as diffuse hypomyelination. These patchy lesions may indicate demyelination or gliosis rather than hypomyelination. This result differs from previous reports.