[Clinical features of GM1 and GM2 gangliosidosis in own observation].

BACKGROUND

Lysosomal enzyme defects leeds to intracellular storage and cause damage in many organs, almost always affects central nervous system. AIM. The aim of the study was to reveal the location and clinical characteristics of gangliosidosis in pediatric neurology.

MATERIAL AND

METHODS

Gangliosidoses GM1 and GM2 (Sandhoff type) was diagnosed in 4 children, aged 1-13 years (mean 4,5 years), 2 girls and 2 boys. GM2 was diagnosed in 3 patients (early childhood in 2, juvenile in 1) and GM1 infantile form in 1, which was 0.024% of hospitalized children in 2007-2008. The diagnosis was made on the basis of blood leukocyte enzyme analyse.

RESULTS

Clinical course of both type infantile gangliosidosis revealed to be similar. Psychomotor deterioration and symptomatic epilepsy were predominant symptoms as well as typical changes of eye fundus like cherry red spot. Juvenile type was less symptomatic, with tremor, dysarthria and ataxia. Neuroimage changes varied and were normal in some, with changes in corpus callosum and with distant changes in white matter and subcortical nuclei in others.

CONCLUSIONS

Gangliosidosis should be suspected in adolescent with tremor, ataxia and dysarthria.