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Neuropediatrics. 2007 Apr;38(2):64-70.

Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.

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Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany.


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.

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