Canavan disease (CD) is a rare autosomal recessive inherited disorder caused by a deficiency of aspartoacylase, which leads to defective myelinisation and occurrence of leukodystrophy. Most frequently it occurs in the population of Ashkenazi Jews, while in the Central European non-Jewish population only about 5 % of outbreaks occur. The most common symptoms are progressive spasticity, serious developmental delay, macrocephaly, blindness, and seizures. The features crucial for diagnostics include clinical history, laboratory proof of N-acetyl- L-aspartate (NAA) accumulation in urine, magnetic resonance imaging (MRI) of the brain, and molecular analysis of the genetic mutation. Genetic therapy has already been known and used, while therapy with stem cells and glyceryl triacetate is still in the phase of research. We diagnosed a six-month non- Jewish girl with leukodystrophy suspect symptoms without EEG or clinically expressed epileptic activity. NAA elevation was proved in urine. Brain MRI showed diffused affection of the brain’s white matter. The diagnosis was definitively confirmed by molecular analysis where the 914C>A mutation was found, which is most frequently expressed in the Central European non-Jewish population. The genetic confirmation explained the essence of this serious neurological disorder and allowed for a better determination of prognosis, which is unfavourable. In Central Europe, only symptomatic therapy of epileptic paroxysms has been used, along with rehabilitation. Negotiations leading to the establishment of gene therapy, which has already been used elsewhere, have not yet been initiated in this region, as it is extremely demanding and rare in Central Europe.

Department of Paediatric Neurology Faculty of Medicine Centre for Epilepsies Masaryk University and Faculty Hospital Brno

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