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 perivascu-lar 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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: July 23, 1997 / Accepted: October 24, 1997
Rights and permissions
About this article
Cite this article
Kondoh, T., Matsumoto, T., Ochi, M. et al. New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. J Hum Genet 43, 59–61 (1998). https://doi.org/10.1007/s100380050038
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380050038
This article is cited by
-
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype
Journal of Human Genetics (2022)
-
Multi-cystic white matter enlarged Virchow Robin spaces in a 5-year-old boy
Child's Nervous System (2012)
-
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome
Neurogenetics (2007)
-
Treatment of drop episodes in Coffin–Lowry syndrome
Journal of Neurology (2006)
-
Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature
Neuroradiology (2006)