Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy - PubMed (original) (raw)
Case Reports
doi: 10.1055/s-2007-985137.
I Harting, A M Innes, S Patzer, P Zeitler, A Schneider, A Wolff, K Baier, J Zschocke, F Ebinger, E Boltshauser, D Rating
Affiliations
- PMID: 17712733
- DOI: 10.1055/s-2007-985137
Case Reports
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy
N I Wolf et al. Neuropediatrics. 2007 Apr.
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.
Comment in
- When neuropediatrics meets odontology.
Bloch-Zupan A. Bloch-Zupan A. Neuropediatrics. 2007 Apr;38(2):57-8. doi: 10.1055/s-2007-985135. Neuropediatrics. 2007. PMID: 17712730 No abstract available.
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