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J Hum Genet. 1998;43(1):59-61.

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

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  • 1Department of Pediatrics, Nagasaki University School of Medicine, Japan.


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.

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