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NEUROLOGY 2005;64:1461-1464
© 2005 American Academy of Neurology
Brief Communications

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

N. I. Wolf, MD, I. Harting, MD, E. Boltshauser, MD, G. Wiegand, MD, M. J. Koch, MD, MDent, T. Schmitt-Mechelke, MD, E. Martin, MD, J. Zschocke, MD, PhD, B. Uhlenberg, MD, G. F. Hoffmann, MD, L. Weber, MD, F. Ebinger, MD and D. Rating, MD

From the Departments of Paediatric Neurology (Drs. Wolf, Ebinger, and Rating), Neuroradiology (Dr. Harting), Conservative Dentistry (Dr. Koch), Human Genetics (Dr. Zschocke), and General Paediatrics, University Hospital Heidelberg (Drs. Hoffmann and Weber), Germany; Departments of Paediatric Neurology (Dr. Boltshauser) and Diagnostic Imaging (Dr. Martin), University Children’s Hospital Zurich, Switzerland; Department of Paediatric Neurology (Dr. Wiegand), Kiel, Germany; Department of Paediatric Neurology (Dr. Schmitt-Mechelke), Children’s Hospital Lucerne, Switzerland; and Department of Neuropaediatrics (Dr. Uhlenberg), Charité Medical School Berlin, Germany.

Address correspondence and reprint requests to Dr. Nicole Wolf, Department of Pediatric Neurology, University Children’s Hospital Heidelberg, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany; e-mail: nicole.wolf{at}med.uni-heidelberg.de

The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the April 26 issue to find the title link for this article.

Received August 30, 2004. Accepted in final form January 14, 2005.




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