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New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome.

Abstract：

:We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascular leukomalacia. However, these changes could not seen in another patient we examined. Both patients showed normal urinary mucopolysaccharide patterns with chromatographic analysis. The cause of the MRI result is not known, but it could have a heterogeneous origin, and this result could represent an important indication defining one type of CLS.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Kondoh T,Matsumoto T,Ochi M,Sukegawa K,Tsuji Y

doi

10.1007/s100380050038

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

59-61

issue

1

eissn

1434-5161

issn

1435-232X

journal_volume

43

pub_type

杂志文章

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