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Neuropediatrics 2003; 34(4): 215-218
DOI: 10.1055/s-2003-42210
Short Communication

Georg Thieme Verlag Stuttgart · New York

Clinical and Genetic Heterogeneity in Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)

R. Blattner 1 , A. von Moers 2 , P. A. J. Leegwater 3 , F. A. Hanefeld 4 , M. S. Van der Knaap 5 , W. Köhler 6
  • 1Department of Psychiatry, Manchester Royal Infirmary, Oxford Road, Manchester, United Kingdom
  • 2Department of Neuropaediatrics, Charité, Humboldt University, Berlin, Germany
  • 3Departments of Clinical Chemistry and Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands
  • 4Department of Paediatrics and Child Neurology, University of Göttingen, Göttingen, Germany
  • 5Department of Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands
  • 6Department of Neurology, Saxonian State Hospital Hubertusburg, Wermsdorf, Germany
Further Information

Publication History

Received: January 27, 2003

Accepted after Revision: May 16, 2003

Publication Date:
15 September 2003 (online)

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Abstract

Background

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) was recently localized on chromosome 22qtel and 26 different mutations of the gene MLC1 have been found. We report three siblings of non-consanguineous parents who presented with characteristic features of MLC, but did not have MLC1 mutations.

Methods

Clinical, laboratory and neuro-imaging findings of the siblings are described and similar patients with MLC are reviewed.

Results

All three siblings suffered from ataxia, progressive severe tetraparesis, dysarthria, dysphagia and epilepsy. Generalized dystonia occurred in one patient. Mental deterioration progressed more slowly than motor deterioration. The youngest male was the most severely affected and died at the age of 23 years. The two older females are now 34 and 35 years old. Our patients are among the oldest described with this clinical entity. No mutation of the MLC1 gene was found in our siblings and linkage with the MLC1 locus was excluded.

Conclusions

The genetic findings in our patients suggest at least a second gene locus for MLC.

Key words

Genetic heterogeneity - MLC1 locus - megalencephaly - leukoencephalopathy - subcortical cysts

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M. D., MRCPsych R. Blattner

Department of Psychiatry · Rawnsley Building · Manchester Royal Infirmary

Oxford Road

Manchester, M13 9WL

United Kingdom

Email: blattner@regine.fsnet.co.uk