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DOI: 10.1055/s-2007-985137
© Georg Thieme Verlag KG Stuttgart · New York
Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy
Publication History
received 11.10.2006
accepted 20.6.2007
Publication Date:
22 August 2007 (online)
![](https://www.thieme-connect.de/media/neuropediatrics/200702/lookinside/thumbnails/10.1055-s-2007-985137-1.jpg)
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