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Neuropediatrics 2007; 38(2): 64-70
DOI: 10.1055/s-2007-985137
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

N. I. Wolf 1 , 2 , I. Harting 3 , A. M. Innes 4 , S. Patzer 5 , P. Zeitler 6 , A. Schneider 7 , A. Wolff 8 , K. Baier 9 , 10 , J. Zschocke 11 , F. Ebinger 1 , E. Boltshauser 2 , D. Rating 1
  • 1Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany
  • 2Department of Neuropaediatrics, University Children's Hospital, Zurich, Switzerland
  • 3Department of Neuroradiology, University Hospital, Heidelberg, Germany
  • 4Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Calgary, Canada
  • 5Children's Hospital, Hospital St. Elisabeth und St. Barbara, Halle/Saale, Germany
  • 6Sozialpädiatrisches Zentrum, University Children's Hospital, Würzburg, Germany
  • 7Department of Paediatrics, Heidenheim, Hospital Heidenheim, Germany
  • 8Departments of Conservative Dentistry, University Hospital, Heidelberg, Germany
  • 9Department of Paediatric Dentistry, Alberta Children's Hospital, Calgary, Canada
  • 10Paediatric Dentistry, Cambridge and Kitchener, Canada
  • 11Institute of Human Genetics, University Hospital Heidelberg, Germany
Further Information

Publication History

received 11.10.2006

accepted 20.6.2007

Publication Date:
22 August 2007 (online)

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Abstract

We present four children, three of them boys, affected with an identical clinical pattern consisting of early-onset ataxia, delayed dentition, hypomyelination and cerebellar atrophy. Dental radiographs showed variable absence of succedaneous teeth. Proton MR spectroscopy in one child showed elevated white matter myo-inositol. As the clinical and radiological picture in these patients is identical to that of four cases described earlier, we suggest that this disorder with ataxia, delayed dentition and hypomyelination (ADDH) represents a new entity. With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect.

Key words

Ataxia - hypodontia - delayed dentition - hypomyelination - cerebellar atrophy

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Correspondence

Dr. N. I. Wolf

Department of Neuropaediatrics

University Children's Hospital

Im Neuenheimer Feld 150

69120 Heidelberg

Germany

Phone: +49/6221/5639321

Fax: +49/6221/565744

Email: nicole.wolf@med.uni-heidelberg.de